[ { "record_id": "MONDO:0030890", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030890", "0030890", "mim:619909", "619909" ] }, { "record_id": "MONDO:0030890", "record_type": "disease", "section": "disease_name", "phraselist": [ "pontocerebellar", "hypoplasia", "iia", "17", "pontocerebellar hypoplasia", "iia 17", "hypoplasia iia", "pontocerebellar hypoplasia iia", "hypoplasia iia 17", "pontocerebellar hypoplasia iia 17", "pch17", "hypoplasia 17", "pontocerebellar hypoplasia 17" ] }, { "record_id": "MONDO:0030890", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030890", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h4q3", "q9h4q3 1", "prd13_human", "np_067633", "glycoprotein", "prdm13", "cdidhh", "mu", "mb", "20.220", "mu mb", "mb 20.220", "mu mb 20.220", "pch17", "pfm10" ] }, { "record_id": "MONDO:0030890", "record_type": "disease", "section": "proteins", "phraselist": [ "pr", "domain", "zinc", "finger", "protein", "13", "pr domain", "domain zinc", "zinc finger", "finger protein", "protein 13", "pr domain zinc", "domain zinc finger", "zinc finger protein", "finger protein 13", "pr domain zinc finger", "domain zinc finger protein", "zinc finger protein 13", "pr domain zinc finger protein", "domain zinc finger protein 13", "2.1.1.", "domain 13", "pr domain 13", "containing", "domain containing", "containing 13", "pr domain containing", "domain containing 13", "pr domain containing 13", "containing protein", "domain containing protein", "containing protein 13", "pr domain containing protein", "domain containing protein 13", "pr domain containing protein 13" ] }, { "record_id": "MONDO:0030893", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030893", "0030893", "mim:619147", "619147" ] }, { "record_id": "MONDO:0030893", "record_type": "disease", "section": "disease_name", "phraselist": [ "leukoencephalopathy", "progressive", "infantile", "onset", "with", "or", "without", "deafness", "infantile onset", "with or", "or without", "without deafness", "leukoencephalopathy progressive", "progressive infantile", "onset with", "with or without", "or without deafness", "progressive infantile onset", "infantile onset with", "onset with or", "with or without deafness", "leukoencephalopathy progressive infantile", "infantile onset with or", "onset with or without", "lepid" ] }, { "record_id": "MONDO:0030893", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030893", "record_type": "disease", "section": "proteins", "phraselist": [ "q15046", "q15046 1", "syk_human", "np_001123561", "glycoprotein", "kars1", "cmtrib", "deaple", "dfnb89", "kars2", "kars", "kiaa0070", "krs", "lepid" ] }, { "record_id": "MONDO:0030893", "record_type": "disease", "section": "proteins", "phraselist": [ "lysine", "trna", "ligase", "trna ligase", "lysine trna", "lysine trna ligase", "2.7.7.", "6.1.1.6", "lysrs", "lysyl", "synthetase", "lysyl trna", "trna synthetase", "lysyl trna synthetase", "isoform", "ligase isoform", "isoform 1", "trna ligase isoform", "ligase isoform 1", "trna ligase isoform 1", "lysine trna ligase isoform" ] }, { "record_id": "MONDO:0030897", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030897", "0030897", "mim:619149", "619149" ] }, { "record_id": "MONDO:0030897", "record_type": "disease", "section": "disease_name", "phraselist": [ "lessel", "kreienkamp", "syndrome", "lessel kreienkamp", "kreienkamp syndrome", "lessel kreienkamp syndrome", "leskres" ] }, { "record_id": "MONDO:0030897", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030897", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ukv8", "q9ukv8 1", "ago2_human", "np_001158095", "glycoprotein", "ago2", "casc7", "eif2c2", "leskres", "linc00980", "ppd", "q10" ] }, { "record_id": "MONDO:0030897", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "argonaute", "protein argonaute", "argonaute 2", "protein argonaute 2", "3.1.26.n2", "risc", "catalytic", "component", "argonaute risc", "risc catalytic", "catalytic component", "component 2", "argonaute risc catalytic", "risc catalytic component", "catalytic component 2", "argonaute risc catalytic component", "risc catalytic component 2", "argonaute risc catalytic component 2", "argonaute2", "eukaryotic", "translation", "initiation", "factor", "2c", "eukaryotic translation", "translation initiation", "initiation factor", "factor 2c", "2c 2", "eukaryotic translation initiation", "translation initiation factor", "initiation factor 2c", "factor 2c 2", "eukaryotic translation initiation factor", "translation initiation factor 2c", "initiation factor 2c 2", "eukaryotic translation initiation factor 2c", "translation initiation factor 2c 2", "paz", "piwi", "domain", "paz piwi", "piwi domain", "domain protein", "paz piwi domain", "piwi domain protein", "paz piwi domain protein", "ppd", "slicer", "protein slicer", "2 risc", "argonaute 2 risc", "2 risc catalytic", "argonaute 2 risc catalytic", "2 risc catalytic component", "cancer", "susceptibility", "candidate", "non", "coding", "cancer susceptibility", "susceptibility candidate", "candidate 7", "non protein", "protein coding", "cancer susceptibility candidate", "susceptibility candidate 7", "7 non", "non protein coding", "cancer susceptibility candidate 7", "candidate 7 non", "7 non protein", "susceptibility candidate 7 non", "candidate 7 non protein", "7 non protein coding", "eif", "eif 2c", "eif 2c 2", "eif2c", "eif2c 2", "hago2", "long", "intergenic", "rna", "980", "long intergenic", "intergenic non", "coding rna", "rna 980", "long intergenic non", "intergenic non protein", "protein coding rna", "coding rna 980", "long intergenic non protein", "intergenic non protein coding", "non protein coding rna", "protein coding rna 980", "long intergenic non protein coding", "intergenic non protein coding rna", "non protein coding rna 980", "isoform", "2 isoform", "isoform 2", "argonaute 2 isoform", "2 isoform 2", "protein argonaute 2 isoform", "argonaute 2 isoform 2", "protein argonaute 2 isoform 2" ] }, { "record_id": "MONDO:0030898", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030898", "0030898", "mim:619164", "619164" ] }, { "record_id": "MONDO:0030898", "record_type": "disease", "section": "disease_name", "phraselist": [ "immunodeficiency", "76", "immunodeficiency 76", "imd76", "combined", "due", "to", "fcho1", "deficiency", "combined immunodeficiency", "immunodeficiency due", "due to", "to fcho1", "fcho1 deficiency", "combined immunodeficiency due", "immunodeficiency due to", "due to fcho1", "to fcho1 deficiency", "combined immunodeficiency due to", "immunodeficiency due to fcho1", "due to fcho1 deficiency", "combined immunodeficiency due to fcho1", "immunodeficiency due to fcho1 deficiency" ] }, { "record_id": "MONDO:0030898", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030898", "record_type": "disease", "section": "proteins", "phraselist": [ "o14526", "o14526 1", "fcho1_human", "np_001154829", "glycoprotein", "fcho1", "imd76", "kiaa0290" ] }, { "record_id": "MONDO:0030898", "record_type": "disease", "section": "proteins", "phraselist": [ "bar", "domain", "only", "protein", "f bar", "bar domain", "domain only", "only protein", "protein 1", "f bar domain", "bar domain only", "domain only protein", "only protein 1", "f bar domain only", "bar domain only protein", "domain only protein 1", "f bar domain only protein", "bar domain only protein 1", "isoform", "1 isoform", "isoform a", "protein 1 isoform", "1 isoform a", "only protein 1 isoform", "protein 1 isoform a", "domain only protein 1 isoform", "only protein 1 isoform a", "fch", "fch domain", "only 1", "fch domain only", "domain only 1", "fch domain only 1", "fch domain only protein", "fch domain only protein 1" ] }, { "record_id": "MONDO:0030899", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030899", "0030899", "mim:619165", "619165" ] }, { "record_id": "MONDO:0030899", "record_type": "disease", "section": "disease_name", "phraselist": [ "oculocutaneous", "albinism", "type", "oculocutaneous albinism", "albinism type", "type 8", "oculocutaneous albinism type", "albinism type 8", "oculocutaneous albinism type 8", "oca8", "viii", "type viii", "albinism type viii", "oculocutaneous albinism type viii", "albinism oculocutaneous", "oculocutaneous 8", "albinism oculocutaneous 8" ] }, { "record_id": "MONDO:0030899", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030899", "record_type": "disease", "section": "proteins", "phraselist": [ "p40126", "p40126 1", "tyrp2_human", "np_001123361", "glycoprotein", "dct", "oca8", "trp", "trp 2", "tyrp2" ] }, { "record_id": "MONDO:0030899", "record_type": "disease", "section": "proteins", "phraselist": [ "dopachrome", "tautomerase", "l dopachrome", "dopachrome tautomerase", "l dopachrome tautomerase", "5.3.3.12", "dct", "dt", "delta", "isomerase", "dopachrome delta", "delta isomerase", "l dopachrome delta", "dopachrome delta isomerase", "l dopachrome delta isomerase", "dopachrome isomerase", "l dopachrome isomerase", "isoform", "precursor", "tautomerase isoform", "isoform 2", "2 precursor", "dopachrome tautomerase isoform", "tautomerase isoform 2", "isoform 2 precursor", "l dopachrome tautomerase isoform", "dopachrome tautomerase isoform 2", "tautomerase isoform 2 precursor", "l dopachrome tautomerase isoform 2", "dopachrome tautomerase isoform 2 precursor", "trp", "trp 2", "trp2", "tyrosinase", "related", "protein", "tyrosinase related", "related protein", "protein 2", "tyrosinase related protein", "related protein 2", "tyrosinase related protein 2", "tyrosine", "tyrosine related", "tautomerase dopachrome", "isomerase tyrosine", "tyrosine related protein", "dopachrome tautomerase dopachrome", "tautomerase dopachrome delta", "delta isomerase tyrosine", "isomerase tyrosine related", "tyrosine related protein 2", "dopachrome tautomerase dopachrome delta", "tautomerase dopachrome delta isomerase", "dopachrome delta isomerase tyrosine", "delta isomerase tyrosine related", "isomerase tyrosine related protein" ] }, { "record_id": "MONDO:0030900", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030900", "0030900", "mim:619150", "619150" ] }, { "record_id": "MONDO:0030900", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "paroxysmal", "dyskinesia", "or", "seizures", "intellectual developmental", "developmental disorder", "disorder with", "with paroxysmal", "paroxysmal dyskinesia", "dyskinesia or", "or seizures", "intellectual developmental disorder", "developmental disorder with", "disorder with paroxysmal", "with paroxysmal dyskinesia", "paroxysmal dyskinesia or", "dyskinesia or seizures", "intellectual developmental disorder with", "developmental disorder with paroxysmal", "disorder with paroxysmal dyskinesia", "with paroxysmal dyskinesia or", "paroxysmal dyskinesia or seizures", "intellectual developmental disorder with paroxysmal", "developmental disorder with paroxysmal dyskinesia", "disorder with paroxysmal dyskinesia or", "with paroxysmal dyskinesia or seizures", "iddpads" ] }, { "record_id": "MONDO:0030900", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030900", "record_type": "disease", "section": "proteins", "phraselist": [ "o00408", "o00408 1", "pde2a_human", "np_001137311", "glycoprotein", "pde2a", "cgs", "pde", "cgs pde", "iddpads", "pde2a1", "ped2a4", "cgspde" ] }, { "record_id": "MONDO:0030900", "record_type": "disease", "section": "proteins", "phraselist": [ "cgmp", "dependent", "3'", "5'", "cyclic", "phosphodiesterase", "cgmp dependent", "dependent 3'", "3' 5'", "5' cyclic", "cyclic phosphodiesterase", "cgmp dependent 3'", "dependent 3' 5'", "3' 5' cyclic", "5' cyclic phosphodiesterase", "cgmp dependent 3' 5'", "dependent 3' 5' cyclic", "3' 5' cyclic phosphodiesterase", "cgmp dependent 3' 5' cyclic", "dependent 3' 5' cyclic phosphodiesterase", "3.1.4.17", "cgs", "pde", "cgs pde", "gmp", "stimulated", "cyclic gmp", "gmp stimulated", "stimulated phosphodiesterase", "cyclic gmp stimulated", "gmp stimulated phosphodiesterase", "cyclic gmp stimulated phosphodiesterase", "isoform", "pde2a2", "phosphodiesterase isoform", "isoform pde2a2", "cyclic phosphodiesterase isoform", "phosphodiesterase isoform pde2a2", "5' cyclic phosphodiesterase isoform", "cyclic phosphodiesterase isoform pde2a2", "3' 5' cyclic phosphodiesterase isoform", "5' cyclic phosphodiesterase isoform pde2a2", "cgmp stimulated", "phosphodiesterase 1", "cgmp stimulated phosphodiesterase", "stimulated phosphodiesterase 1", "cgmp stimulated phosphodiesterase 1", "phosphodiesterase 2", "stimulated phosphodiesterase 2", "cgmp stimulated phosphodiesterase 2", "phosphodiesterase 4", "stimulated phosphodiesterase 4", "cgmp stimulated phosphodiesterase 4", "cgspde", "2a", "phosphodiesterase 2a", "2a cgmp", "phosphodiesterase 2a cgmp", "2a cgmp stimulated", "phosphodiesterase 2a cgmp stimulated" ] }, { "record_id": "MONDO:0030902", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030902", "0030902", "mim:619170", "619170" ] }, { "record_id": "MONDO:0030902", "record_type": "disease", "section": "disease_name", "phraselist": [ "mitochondrial", "complex", "deficiency", "nuclear", "type", "36", "mitochondrial complex", "complex i", "i deficiency", "nuclear type", "type 36", "mitochondrial complex i", "complex i deficiency", "deficiency nuclear", "nuclear type 36", "mitochondrial complex i deficiency", "i deficiency nuclear", "deficiency nuclear type", "complex i deficiency nuclear", "i deficiency nuclear type", "deficiency nuclear type 36", "mc1dn36", "complex 1", "1 deficiency", "mitochondrial complex 1", "complex 1 deficiency", "mitochondrial complex 1 deficiency", "1 deficiency nuclear", "complex 1 deficiency nuclear", "1 deficiency nuclear type" ] }, { "record_id": "MONDO:0030902", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030902", "record_type": "disease", "section": "proteins", "phraselist": [ "o95298", "o95298 1", "nduc2_human", "np_001190983", "ndufc2", "b14.5b", "ci", "ci b14.5b", "hlc", "hlc 1", "hlc1", "mc1dn36", "nadhdh2" ] }, { "record_id": "MONDO:0030902", "record_type": "disease", "section": "proteins", "phraselist": [ "nadh", "dehydrogenase", "ubiquinone", "subunit", "c2", "nadh dehydrogenase", "1 subunit", "subunit c2", "dehydrogenase ubiquinone", "ubiquinone 1", "1 subunit c2", "nadh dehydrogenase ubiquinone", "ubiquinone 1 subunit", "dehydrogenase ubiquinone 1", "ubiquinone 1 subunit c2", "ci", "b14.5b", "ci b14.5b", "complex", "complex i", "i b14.5b", "complex i b14.5b", "hlc", "hlc 1", "human", "lung", "cancer", "oncogene", "protein", "human lung", "lung cancer", "cancer oncogene", "oncogene 1", "1 protein", "human lung cancer", "lung cancer oncogene", "cancer oncogene 1", "oncogene 1 protein", "human lung cancer oncogene", "lung cancer oncogene 1", "cancer oncogene 1 protein", "human lung cancer oncogene 1", "lung cancer oncogene 1 protein", "subcomplex", "unknown", "14.5kda", "subcomplex unknown", "1 subcomplex", "unknown 2", "2 14.5kda", "1 subcomplex unknown", "subcomplex unknown 2", "ubiquinone 1 subcomplex", "unknown 2 14.5kda", "isoform", "c2 isoform", "isoform 2", "subunit c2 isoform", "c2 isoform 2", "1 subunit c2 isoform", "subunit c2 isoform 2", "1 subunit c2 isoform 2", "oxidoreductase", "nadh ubiquinone", "ubiquinone oxidoreductase", "oxidoreductase subunit", "subunit b14.5b", "nadh ubiquinone oxidoreductase", "ubiquinone oxidoreductase subunit", "oxidoreductase subunit b14.5b", "nadh ubiquinone oxidoreductase subunit", "ubiquinone oxidoreductase subunit b14.5b", "nadh ubiquinone oxidoreductase subunit b14.5b", "i subunit", "complex i subunit", "i subunit b14.5b", "complex i subunit b14.5b" ] }, { "record_id": "MONDO:0030903", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030903", "0030903", "mim:619172", "619172" ] }, { "record_id": "MONDO:0030903", "record_type": "disease", "section": "disease_name", "phraselist": [ "hermansky", "pudlak", "syndrome", "11", "hermansky pudlak", "pudlak syndrome", "syndrome 11", "hermansky pudlak syndrome", "pudlak syndrome 11", "hermansky pudlak syndrome 11", "hps11" ] }, { "record_id": "MONDO:0030903", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030903", "record_type": "disease", "section": "proteins", "phraselist": [ "q8tdh9", "q8tdh9 1", "bl1s5_human", "np_001186251", "glycoprotein", "bloc1s5", "blos5", "hps11", "muted", "mu" ] }, { "record_id": "MONDO:0030903", "record_type": "disease", "section": "proteins", "phraselist": [ "biogenesis", "of", "lysosome", "related", "organelles", "complex", "subunit", "biogenesis of", "of lysosome", "lysosome related", "related organelles", "organelles complex", "complex 1", "1 subunit", "subunit 5", "biogenesis of lysosome", "of lysosome related", "lysosome related organelles", "related organelles complex", "organelles complex 1", "complex 1 subunit", "1 subunit 5", "biogenesis of lysosome related", "of lysosome related organelles", "lysosome related organelles complex", "related organelles complex 1", "organelles complex 1 subunit", "complex 1 subunit 5", "biogenesis of lysosome related organelles", "of lysosome related organelles complex", "lysosome related organelles complex 1", "related organelles complex 1 subunit", "organelles complex 1 subunit 5", "bloc", "bloc 1", "bloc 1 subunit", "bloc 1 subunit 5", "protein", "muted", "homolog", "protein muted", "muted homolog", "protein muted homolog", "lysosomal", "of lysosomal", "lysosomal organelles", "biogenesis of lysosomal", "of lysosomal organelles", "lysosomal organelles complex", "5 muted", "biogenesis of lysosomal organelles", "of lysosomal organelles complex", "lysosomal organelles complex 1", "subunit 5 muted", "biogenesis of lysosomal organelles complex", "of lysosomal organelles complex 1", "isoform", "5 isoform", "isoform 2", "subunit 5 isoform", "5 isoform 2", "1 subunit 5 isoform", "subunit 5 isoform 2", "complex 1 subunit 5 isoform", "1 subunit 5 isoform 2" ] }, { "record_id": "MONDO:0030925", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030925", "0030925", "mim:619176", "619176" ] }, { "record_id": "MONDO:0030925", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte", "maturation", "defect", "10", "oocyte maturation", "maturation defect", "defect 10", "oocyte maturation defect", "maturation defect 10", "oocyte maturation defect 10", "oomd10", "oocyte/zygote/embryo", "arrest", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 10", "oocyte/zygote/embryo maturation arrest", "maturation arrest 10", "oocyte/zygote/embryo maturation arrest 10" ] }, { "record_id": "MONDO:0030925", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030925", "record_type": "disease", "section": "proteins", "phraselist": [ "q7z4m0", "q7z4m0 1", "re114_human", "np_001035826", "rec114", "c15orf60", "ct147", "oomd10", "ozema10" ] }, { "record_id": "MONDO:0030925", "record_type": "disease", "section": "proteins", "phraselist": [ "meiotic", "recombination", "protein", "rec114", "meiotic recombination", "recombination protein", "protein rec114", "meiotic recombination protein", "recombination protein rec114", "meiotic recombination protein rec114", "isoform", "rec114 isoform", "isoform 1", "protein rec114 isoform", "rec114 isoform 1", "recombination protein rec114 isoform", "protein rec114 isoform 1", "meiotic recombination protein rec114 isoform", "recombination protein rec114 isoform 1", "like", "rec114 like", "protein rec114 like", "recombination protein rec114 like", "meiotic recombination protein rec114 like" ] }, { "record_id": "MONDO:0030930", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030930", "0030930", "mim:619157", "619157" ] }, { "record_id": "MONDO:0030930", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "or", "without", "early", "onset", "generalized", "epilepsy", "neurodevelopmental disorder", "disorder with", "with or", "or without", "without early", "early onset", "onset generalized", "generalized epilepsy", "neurodevelopmental disorder with", "disorder with or", "with or without", "or without early", "without early onset", "early onset generalized", "onset generalized epilepsy", "neurodevelopmental disorder with or", "disorder with or without", "with or without early", "or without early onset", "without early onset generalized", "early onset generalized epilepsy", "neurodevelopmental disorder with or without", "disorder with or without early", "with or without early onset", "or without early onset generalized", "without early onset generalized epilepsy", "nedege" ] }, { "record_id": "MONDO:0030930", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030930", "record_type": "disease", "section": "proteins", "phraselist": [ "q8nfp9", "q8nfp9 1", "nbea_human", "np_001191126", "glycoprotein", "nbea", "bcl8b", "kiaa1544", "lyst2", "nedege" ] }, { "record_id": "MONDO:0030930", "record_type": "disease", "section": "proteins", "phraselist": [ "neurobeachin", "lysosomal", "trafficking", "regulator", "lysosomal trafficking", "trafficking regulator", "regulator 2", "lysosomal trafficking regulator", "trafficking regulator 2", "lysosomal trafficking regulator 2", "protein", "bcl8b", "protein bcl8b", "isoform", "neurobeachin isoform", "isoform 2", "neurobeachin isoform 2" ] }, { "record_id": "MONDO:0030933", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030933", "0030933", "mim:619185", "619185" ] }, { "record_id": "MONDO:0030933", "record_type": "disease", "section": "disease_name", "phraselist": [ "joubert", "syndrome", "37", "joubert syndrome", "syndrome 37", "joubert syndrome 37", "jbts37" ] }, { "record_id": "MONDO:0030933", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030933", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y4f4", "q9y4f4 1", "tgrm1_human", "np_055906", "glycoprotein", "togaram1", "fam179b", "jbts37", "kiaa0423" ] }, { "record_id": "MONDO:0030933", "record_type": "disease", "section": "proteins", "phraselist": [ "tog", "array", "regulator", "of", "axonemal", "microtubules", "protein", "tog array", "array regulator", "regulator of", "of axonemal", "axonemal microtubules", "microtubules protein", "protein 1", "tog array regulator", "array regulator of", "regulator of axonemal", "of axonemal microtubules", "axonemal microtubules protein", "microtubules protein 1", "tog array regulator of", "array regulator of axonemal", "regulator of axonemal microtubules", "of axonemal microtubules protein", "axonemal microtubules protein 1", "tog array regulator of axonemal", "array regulator of axonemal microtubules", "regulator of axonemal microtubules protein", "of axonemal microtubules protein 1", "crescerin", "crescerin 1", "fam179b", "protein fam179b", "isoform", "1 isoform", "isoform 2", "protein 1 isoform", "1 isoform 2", "microtubules protein 1 isoform", "protein 1 isoform 2", "axonemal microtubules protein 1 isoform", "microtubules protein 1 isoform 2", "family", "with", "sequence", "similarity", "179", "member", "family with", "with sequence", "sequence similarity", "similarity 179", "179 member", "member b", "family with sequence", "with sequence similarity", "sequence similarity 179", "similarity 179 member", "179 member b", "family with sequence similarity", "with sequence similarity 179", "sequence similarity 179 member", "similarity 179 member b", "family with sequence similarity 179", "with sequence similarity 179 member", "sequence similarity 179 member b" ] }, { "record_id": "MONDO:0030935", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030935", "0030935", "mim:619166", "619166" ] }, { "record_id": "MONDO:0030935", "record_type": "disease", "section": "disease_name", "phraselist": [ "mitochondrial", "complex", "deficiency", "nuclear", "type", "mitochondrial complex", "complex 2", "2 deficiency", "nuclear type", "type 2", "mitochondrial complex 2", "complex 2 deficiency", "deficiency nuclear", "nuclear type 2", "mitochondrial complex 2 deficiency", "2 deficiency nuclear", "deficiency nuclear type", "complex 2 deficiency nuclear", "2 deficiency nuclear type", "deficiency nuclear type 2", "mc2dn2", "ii", "complex ii", "ii deficiency", "mitochondrial complex ii", "complex ii deficiency", "mitochondrial complex ii deficiency", "ii deficiency nuclear", "complex ii deficiency nuclear", "ii deficiency nuclear type" ] }, { "record_id": "MONDO:0030935", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030935", "record_type": "disease", "section": "proteins", "phraselist": [ "a6nfy7", "a6nfy7 1", "sdhf1_human", "np_001036096", "sdhaf1", "lyrm8", "mc2dn2" ] }, { "record_id": "MONDO:0030935", "record_type": "disease", "section": "proteins", "phraselist": [ "succinate", "dehydrogenase", "assembly", "factor", "mitochondrial", "succinate dehydrogenase", "dehydrogenase assembly", "assembly factor", "factor 1", "succinate dehydrogenase assembly", "dehydrogenase assembly factor", "assembly factor 1", "1 mitochondrial", "succinate dehydrogenase assembly factor", "dehydrogenase assembly factor 1", "factor 1 mitochondrial", "succinate dehydrogenase assembly factor 1", "assembly factor 1 mitochondrial", "lyr", "motif", "containing", "lyr motif", "motif containing", "containing 8", "lyr motif containing", "motif containing 8", "lyr motif containing 8", "protein", "containing protein", "protein 8", "motif containing protein", "containing protein 8", "lyr motif containing protein", "motif containing protein 8", "lyr motif containing protein 8", "sdh", "sdh assembly", "sdh assembly factor", "sdh assembly factor 1", "sdhaf1" ] }, { "record_id": "MONDO:0030936", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030936", "0030936", "mim:619191", "619191" ] }, { "record_id": "MONDO:0030936", "record_type": "disease", "section": "disease_name", "phraselist": [ "epilepsy", "progressive", "myoclonic", "12", "progressive myoclonic", "epilepsy progressive", "myoclonic 12", "epilepsy progressive myoclonic", "progressive myoclonic 12", "epm12", "epilepsy progressive myoclonic 12" ] }, { "record_id": "MONDO:0030936", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030936", "record_type": "disease", "section": "proteins", "phraselist": [ "q96cw6", "q96cw6 1", "s7a6o_human", "np_115554", "glycoprotein", "slc7a6os", "epm12", "iwr1" ] }, { "record_id": "MONDO:0030936", "record_type": "disease", "section": "proteins", "phraselist": [ "probable", "rna", "polymerase", "ii", "nuclear", "localization", "protein", "slc7a6os", "probable rna", "rna polymerase", "polymerase ii", "ii nuclear", "nuclear localization", "localization protein", "protein slc7a6os", "probable rna polymerase", "rna polymerase ii", "polymerase ii nuclear", "ii nuclear localization", "nuclear localization protein", "localization protein slc7a6os", "probable rna polymerase ii", "rna polymerase ii nuclear", "polymerase ii nuclear localization", "ii nuclear localization protein", "nuclear localization protein slc7a6os", "probable rna polymerase ii nuclear", "rna polymerase ii nuclear localization", "polymerase ii nuclear localization protein", "ii nuclear localization protein slc7a6os", "adams", "proteinase", "related", "adams proteinase", "proteinase related", "related protein", "adams proteinase related", "proteinase related protein", "adams proteinase related protein", "solute", "carrier", "family", "member", "opposite", "strand", "transcript", "solute carrier", "carrier family", "family 7", "7 member", "member 6", "6 opposite", "opposite strand", "strand transcript", "solute carrier family", "carrier family 7", "family 7 member", "7 member 6", "member 6 opposite", "6 opposite strand", "opposite strand transcript", "solute carrier family 7", "carrier family 7 member", "family 7 member 6", "7 member 6 opposite", "member 6 opposite strand", "6 opposite strand transcript", "solute carrier family 7 member", "carrier family 7 member 6", "family 7 member 6 opposite", "7 member 6 opposite strand", "member 6 opposite strand transcript" ] }, { "record_id": "MONDO:0030937", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030937", "0030937", "mim:619167", "619167" ] }, { "record_id": "MONDO:0030937", "record_type": "disease", "section": "disease_name", "phraselist": [ "mitochondrial", "complex", "deficiency", "nuclear", "type", "mitochondrial complex", "complex 2", "2 deficiency", "nuclear type", "type 3", "mitochondrial complex 2", "complex 2 deficiency", "deficiency nuclear", "nuclear type 3", "mitochondrial complex 2 deficiency", "2 deficiency nuclear", "deficiency nuclear type", "complex 2 deficiency nuclear", "2 deficiency nuclear type", "deficiency nuclear type 3", "mc2dn3", "sdhd", "related", "ii", "sdhd related", "related nuclear", "type mitochondrial", "complex ii", "ii deficiency", "sdhd related nuclear", "related nuclear type", "nuclear type mitochondrial", "type mitochondrial complex", "mitochondrial complex ii", "complex ii deficiency", "sdhd related nuclear type", "related nuclear type mitochondrial", "nuclear type mitochondrial complex", "type mitochondrial complex ii", "mitochondrial complex ii deficiency", "sdhd related nuclear type mitochondrial", "related nuclear type mitochondrial complex", "nuclear type mitochondrial complex ii", "type mitochondrial complex ii deficiency", "ii deficiency nuclear", "complex ii deficiency nuclear", "ii deficiency nuclear type" ] }, { "record_id": "MONDO:0030937", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030937", "record_type": "disease", "section": "proteins", "phraselist": [ "o14521", "o14521 1", "dhsd_human", "np_001263432", "glycoprotein", "sdhd", "cbt1", "cii", "cii 4", "cws3", "mc2dn3", "pgl1", "pgl", "ppgl1", "qps3", "sdh4", "cybs" ] }, { "record_id": "MONDO:0030937", "record_type": "disease", "section": "proteins", "phraselist": [ "succinate", "dehydrogenase", "ubiquinone", "cytochrome", "small", "subunit", "mitochondrial", "succinate dehydrogenase", "cytochrome b", "b small", "small subunit", "dehydrogenase ubiquinone", "ubiquinone cytochrome", "cytochrome b small", "b small subunit", "subunit mitochondrial", "succinate dehydrogenase ubiquinone", "ubiquinone cytochrome b", "cytochrome b small subunit", "small subunit mitochondrial", "dehydrogenase ubiquinone cytochrome", "ubiquinone cytochrome b small", "b small subunit mitochondrial", "cii", "cii 4", "cybs", "malate", "quinone", "malate dehydrogenase", "dehydrogenase quinone", "quinone cytochrome", "malate dehydrogenase quinone", "quinone cytochrome b", "dehydrogenase quinone cytochrome", "quinone cytochrome b small", "qps3", "complex", "dehydrogenase complex", "complex subunit", "subunit d", "succinate dehydrogenase complex", "dehydrogenase complex subunit", "complex subunit d", "succinate dehydrogenase complex subunit", "dehydrogenase complex subunit d", "succinate dehydrogenase complex subunit d", "oxidoreductase", "succinate ubiquinone", "ubiquinone oxidoreductase", "oxidoreductase cytochrome", "succinate ubiquinone oxidoreductase", "ubiquinone oxidoreductase cytochrome", "oxidoreductase cytochrome b", "succinate ubiquinone oxidoreductase cytochrome", "ubiquinone oxidoreductase cytochrome b", "oxidoreductase cytochrome b small", "succinate ubiquinone oxidoreductase cytochrome b", "ubiquinone oxidoreductase cytochrome b small", "oxidoreductase cytochrome b small subunit", "reductase", "membrane", "anchor", "ubiquinone reductase", "reductase membrane", "membrane anchor", "anchor subunit", "succinate ubiquinone reductase", "ubiquinone reductase membrane", "reductase membrane anchor", "membrane anchor subunit", "succinate ubiquinone reductase membrane", "ubiquinone reductase membrane anchor", "reductase membrane anchor subunit", "succinate ubiquinone reductase membrane anchor", "ubiquinone reductase membrane anchor subunit", "isoform", "precursor", "mitochondrial isoform", "isoform b", "b precursor", "mitochondrial isoform b", "isoform b precursor", "subunit mitochondrial isoform", "mitochondrial isoform b precursor", "small subunit mitochondrial isoform", "subunit mitochondrial isoform b", "integral", "protein", "d integral", "integral membrane", "membrane protein", "subunit d integral", "d integral membrane", "integral membrane protein", "complex subunit d integral", "subunit d integral membrane", "d integral membrane protein", "dehydrogenase complex subunit d integral", "complex subunit d integral membrane", "subunit d integral membrane protein" ] }, { "record_id": "MONDO:0030941", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030941", "0030941", "mim:619209", "619209" ] }, { "record_id": "MONDO:0030941", "record_type": "disease", "section": "disease_name", "phraselist": [ "erythrokeratodermia", "variabilis", "et", "progressiva", "erythrokeratodermia variabilis", "variabilis et", "et progressiva", "progressiva 7", "erythrokeratodermia variabilis et", "variabilis et progressiva", "et progressiva 7", "erythrokeratodermia variabilis et progressiva", "variabilis et progressiva 7", "erythrokeratodermia variabilis et progressiva 7", "ekvp7" ] }, { "record_id": "MONDO:0030941", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030941", "record_type": "disease", "section": "proteins", "phraselist": [ "q96fx8", "q96fx8 1", "perp_human", "np_071404", "perp", "ekvp7", "kcp1", "krtcap1", "olms2", "pigpc1", "thw", "dj496h19.1" ] }, { "record_id": "MONDO:0030941", "record_type": "disease", "section": "proteins", "phraselist": [ "p53", "apoptosis", "effector", "related", "to", "pmp", "22", "p53 apoptosis", "apoptosis effector", "effector related", "related to", "to pmp", "pmp 22", "p53 apoptosis effector", "apoptosis effector related", "effector related to", "related to pmp", "to pmp 22", "p53 apoptosis effector related", "apoptosis effector related to", "effector related to pmp", "related to pmp 22", "p53 apoptosis effector related to", "apoptosis effector related to pmp", "effector related to pmp 22", "1110017a08rik", "kcp", "kcp 1", "keratinocyte", "associated", "protein", "keratinocyte associated", "associated protein", "protein 1", "keratinocyte associated protein", "associated protein 1", "keratinocyte associated protein 1", "induced", "pigpc1", "p53 induced", "induced protein", "protein pigpc1", "p53 induced protein", "induced protein pigpc1", "p53 induced protein pigpc1", "perp", "tp53", "tp53 apoptosis", "perp tp53", "tp53 apoptosis effector", "perp tp53 apoptosis", "perp tp53 apoptosis effector", "transmembrane", "thw", "transmembrane protein", "protein thw", "transmembrane protein thw", "keratinocytes", "keratinocytes associated", "keratinocytes associated protein", "keratinocytes associated protein 1" ] }, { "record_id": "MONDO:0030961", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030961", "0030961", "mim:619208", "619208" ] }, { "record_id": "MONDO:0030961", "record_type": "disease", "section": "disease_name", "phraselist": [ "olmsted", "syndrome", "olmsted syndrome", "syndrome 2", "olmsted syndrome 2", "olms2", "palmoplantar", "keratoderma", "mutilating", "with", "periorificial", "keratotic", "plaques", "palmoplantar keratoderma", "with periorificial", "periorificial keratotic", "keratotic plaques", "plaques 2", "keratoderma mutilating", "mutilating with", "with periorificial keratotic", "periorificial keratotic plaques", "keratotic plaques 2", "palmoplantar keratoderma mutilating", "mutilating with periorificial", "with periorificial keratotic plaques", "periorificial keratotic plaques 2", "keratoderma mutilating with", "mutilating with periorificial keratotic", "with periorificial keratotic plaques 2" ] }, { "record_id": "MONDO:0030961", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030961", "record_type": "disease", "section": "proteins", "phraselist": [ "q96fx8", "q96fx8 1", "perp_human", "np_071404", "perp", "ekvp7", "kcp1", "krtcap1", "olms2", "pigpc1", "thw", "dj496h19.1" ] }, { "record_id": "MONDO:0030961", "record_type": "disease", "section": "proteins", "phraselist": [ "p53", "apoptosis", "effector", "related", "to", "pmp", "22", "p53 apoptosis", "apoptosis effector", "effector related", "related to", "to pmp", "pmp 22", "p53 apoptosis effector", "apoptosis effector related", "effector related to", "related to pmp", "to pmp 22", "p53 apoptosis effector related", "apoptosis effector related to", "effector related to pmp", "related to pmp 22", "p53 apoptosis effector related to", "apoptosis effector related to pmp", "effector related to pmp 22", "1110017a08rik", "kcp", "kcp 1", "keratinocyte", "associated", "protein", "keratinocyte associated", "associated protein", "protein 1", "keratinocyte associated protein", "associated protein 1", "keratinocyte associated protein 1", "induced", "pigpc1", "p53 induced", "induced protein", "protein pigpc1", "p53 induced protein", "induced protein pigpc1", "p53 induced protein pigpc1", "perp", "tp53", "tp53 apoptosis", "perp tp53", "tp53 apoptosis effector", "perp tp53 apoptosis", "perp tp53 apoptosis effector", "transmembrane", "thw", "transmembrane protein", "protein thw", "transmembrane protein thw", "keratinocytes", "keratinocytes associated", "keratinocytes associated protein", "keratinocytes associated protein 1" ] }, { "record_id": "MONDO:0030963", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030963", "0030963", "mim:619189", "619189" ] }, { "record_id": "MONDO:0030963", "record_type": "disease", "section": "disease_name", "phraselist": [ "li", "campeau", "syndrome", "li campeau", "campeau syndrome", "li campeau syndrome", "licas" ] }, { "record_id": "MONDO:0030963", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030963", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n806", "q8n806 1", "ubr7_human", "np_786924", "glycoprotein", "ubr7", "c14orf130", "licas" ] }, { "record_id": "MONDO:0030963", "record_type": "disease", "section": "proteins", "phraselist": [ "putative", "e3", "ubiquitin", "protein", "ligase", "ubr7", "putative e3", "e3 ubiquitin", "ubiquitin protein", "protein ligase", "ligase ubr7", "putative e3 ubiquitin", "e3 ubiquitin protein", "ubiquitin protein ligase", "protein ligase ubr7", "putative e3 ubiquitin protein", "e3 ubiquitin protein ligase", "ubiquitin protein ligase ubr7", "putative e3 ubiquitin protein ligase", "e3 ubiquitin protein ligase ubr7", "2.3.2.27", "recognin", "n recognin", "recognin 7", "n recognin 7", "ring", "type", "transferase", "ring type", "type e3", "ubiquitin transferase", "transferase ubr7", "ring type e3", "type e3 ubiquitin", "e3 ubiquitin transferase", "ubiquitin transferase ubr7", "ring type e3 ubiquitin", "type e3 ubiquitin transferase", "e3 ubiquitin transferase ubr7", "ring type e3 ubiquitin transferase", "type e3 ubiquitin transferase ubr7", "component", "ligase e3", "e3 component", "component n", "protein ligase e3", "ligase e3 component", "e3 component n", "component n recognin", "7 putative", "ubiquitin protein ligase e3", "protein ligase e3 component", "ligase e3 component n", "e3 component n recognin", "component n recognin 7", "recognin 7 putative", "ubiquitin protein ligase e3 component", "protein ligase e3 component n", "ligase e3 component n recognin", "e3 component n recognin 7", "n recognin 7 putative" ] }, { "record_id": "MONDO:0030966", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030966", "0030966", "mim:619194", "619194" ] }, { "record_id": "MONDO:0030966", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurofacioskeletal", "syndrome", "with", "or", "without", "renal", "agenesis", "neurofacioskeletal syndrome", "syndrome with", "with or", "or without", "without renal", "renal agenesis", "neurofacioskeletal syndrome with", "syndrome with or", "with or without", "or without renal", "without renal agenesis", "neurofacioskeletal syndrome with or", "syndrome with or without", "with or without renal", "or without renal agenesis", "neurofacioskeletal syndrome with or without", "syndrome with or without renal", "with or without renal agenesis", "nfsra", "neurodevelopmental", "disorder", "corpus", "callosum", "craniofacial", "dysmorphism", "and", "skeletal", "anomalies", "neurodevelopmental disorder", "disorder with", "with corpus", "corpus callosum", "callosum agenesis", "craniofacial dysmorphism", "and skeletal", "skeletal anomalies", "neurodevelopmental disorder with", "disorder with corpus", "with corpus callosum", "corpus callosum agenesis", "agenesis craniofacial", "dysmorphism and", "and skeletal anomalies", "anomalies with", "neurodevelopmental disorder with corpus", "disorder with corpus callosum", "with corpus callosum agenesis", "callosum agenesis craniofacial", "agenesis craniofacial dysmorphism", "craniofacial dysmorphism and", "dysmorphism and skeletal", "skeletal anomalies with", "anomalies with or", "neurodevelopmental disorder with corpus callosum", "disorder with corpus callosum agenesis", "corpus callosum agenesis craniofacial", "callosum agenesis craniofacial dysmorphism", "craniofacial dysmorphism and skeletal", "dysmorphism and skeletal anomalies", "and skeletal anomalies with", "skeletal anomalies with or", "anomalies with or without" ] }, { "record_id": "MONDO:0030966", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030966", "record_type": "disease", "section": "proteins", "phraselist": [ "q7lga3", "q7lga3 1", "hs2st_human", "np_001127964", "glycoprotein", "hs2st1", "ost", "2 ost", "hs2st", "kiaa0448", "nfsra", "dj604k5.2" ] }, { "record_id": "MONDO:0030966", "record_type": "disease", "section": "proteins", "phraselist": [ "heparan", "sulfate", "sulfotransferase", "heparan sulfate", "sulfate 2", "2 o", "o sulfotransferase", "sulfotransferase 1", "heparan sulfate 2", "sulfate 2 o", "2 o sulfotransferase", "o sulfotransferase 1", "heparan sulfate 2 o", "sulfate 2 o sulfotransferase", "2 o sulfotransferase 1", "heparan sulfate 2 o sulfotransferase", "sulfate 2 o sulfotransferase 1", "ost", "2 ost", "2.8.2.", "2ost", "hs", "hs 2", "hs 2 o", "hs 2 o sulfotransferase", "2 sulfotransferase", "sulfate 2 sulfotransferase", "heparan sulfate 2 sulfotransferase", "isoform", "1 isoform", "isoform 2", "sulfotransferase 1 isoform", "1 isoform 2", "o sulfotransferase 1 isoform", "sulfotransferase 1 isoform 2", "2 o sulfotransferase 1 isoform", "o sulfotransferase 1 isoform 2" ] }, { "record_id": "MONDO:0030967", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030967", "0030967", "mim:619196", "619196" ] }, { "record_id": "MONDO:0030967", "record_type": "disease", "section": "disease_name", "phraselist": [ "deafness", "congenital", "and", "adult", "onset", "progressive", "leukoencephalopathy", "and adult", "adult onset", "onset progressive", "progressive leukoencephalopathy", "deafness congenital", "congenital and", "and adult onset", "adult onset progressive", "onset progressive leukoencephalopathy", "congenital and adult", "and adult onset progressive", "adult onset progressive leukoencephalopathy", "deafness congenital and", "congenital and adult onset", "and adult onset progressive leukoencephalopathy", "deaple" ] }, { "record_id": "MONDO:0030967", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030967", "record_type": "disease", "section": "proteins", "phraselist": [ "q15046", "q15046 1", "syk_human", "np_001123561", "glycoprotein", "kars1", "cmtrib", "deaple", "dfnb89", "kars2", "kars", "kiaa0070", "krs", "lepid" ] }, { "record_id": "MONDO:0030967", "record_type": "disease", "section": "proteins", "phraselist": [ "lysine", "trna", "ligase", "trna ligase", "lysine trna", "lysine trna ligase", "2.7.7.", "6.1.1.6", "lysrs", "lysyl", "synthetase", "lysyl trna", "trna synthetase", "lysyl trna synthetase", "isoform", "ligase isoform", "isoform 1", "trna ligase isoform", "ligase isoform 1", "trna ligase isoform 1", "lysine trna ligase isoform" ] }, { "record_id": "MONDO:0030971", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030971", "0030971", "mim:619220", "619220" ] }, { "record_id": "MONDO:0030971", "record_type": "disease", "section": "disease_name", "phraselist": [ "immunodeficiency", "78", "with", "autoimmunity", "and", "developmental", "delay", "immunodeficiency 78", "78 with", "with autoimmunity", "autoimmunity and", "and developmental", "developmental delay", "immunodeficiency 78 with", "78 with autoimmunity", "with autoimmunity and", "autoimmunity and developmental", "and developmental delay", "immunodeficiency 78 with autoimmunity", "78 with autoimmunity and", "with autoimmunity and developmental", "autoimmunity and developmental delay", "immunodeficiency 78 with autoimmunity and", "78 with autoimmunity and developmental", "with autoimmunity and developmental delay", "imd78", "tpp2", "deficiency", "tpp2 deficiency" ] }, { "record_id": "MONDO:0030971", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030971", "record_type": "disease", "section": "proteins", "phraselist": [ "p29144", "p29144 1", "tpp2_human", "np_003282", "glycoprotein", "tpp2", "imd78", "tpp", "tpp 2", "ii", "tpp ii", "tppii" ] }, { "record_id": "MONDO:0030971", "record_type": "disease", "section": "proteins", "phraselist": [ "tripeptidyl", "peptidase", "tripeptidyl peptidase", "peptidase 2", "tripeptidyl peptidase 2", "3.4.14.10", "tpp", "tpp 2", "ii", "tpp ii", "aminopeptidase", "tripeptidyl aminopeptidase", "peptidase ii", "tripeptidyl peptidase ii", "isoform", "2 isoform", "isoform 1", "peptidase 2 isoform", "2 isoform 1", "tripeptidyl peptidase 2 isoform", "peptidase 2 isoform 1", "tripeptidyl peptidase 2 isoform 1" ] }, { "record_id": "MONDO:0030973", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030973", "0030973", "mim:619223", "619223" ] }, { "record_id": "MONDO:0030973", "record_type": "disease", "section": "disease_name", "phraselist": [ "immunodeficiency", "77", "immunodeficiency 77", "imd77" ] }, { "record_id": "MONDO:0030973", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030973", "record_type": "disease", "section": "proteins", "phraselist": [ "q2m385", "q2m385 1", "mpeg1_human", "np_001034485", "glycoprotein", "mpeg1", "imd77", "mpg1", "mps", "mps 1", "mps1", "mpg", "mpg 1", "p 2", "p2" ] }, { "record_id": "MONDO:0030973", "record_type": "disease", "section": "proteins", "phraselist": [ "macrophage", "expressed", "gene", "protein", "macrophage expressed", "expressed gene", "gene 1", "1 protein", "macrophage expressed gene", "expressed gene 1", "gene 1 protein", "macrophage expressed gene 1", "expressed gene 1 protein", "macrophage expressed gene 1 protein", "macrophage gene", "macrophage gene 1", "macrophage gene 1 protein", "mpg", "mpg 1", "p 2", "perforin", "perforin 2", "proliferation", "speci", "fi", "macrophage proliferation", "proliferation speci", "speci fi", "fi c", "c gene", "macrophage proliferation speci", "proliferation speci fi", "speci fi c", "fi c gene", "c gene 1", "macrophage proliferation speci fi", "proliferation speci fi c", "speci fi c gene", "fi c gene 1", "macrophage proliferation speci fi c", "proliferation speci fi c gene", "speci fi c gene 1", "precursor", "protein precursor", "1 protein precursor", "gene 1 protein precursor", "expressed gene 1 protein precursor" ] }, { "record_id": "MONDO:0030974", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030974", "0030974", "mim:619224", "619224" ] }, { "record_id": "MONDO:0030974", "record_type": "disease", "section": "disease_name", "phraselist": [ "mitochondrial", "complex", "deficiency", "nuclear", "type", "mitochondrial complex", "complex 2", "2 deficiency", "nuclear type", "type 4", "mitochondrial complex 2", "complex 2 deficiency", "deficiency nuclear", "nuclear type 4", "mitochondrial complex 2 deficiency", "2 deficiency nuclear", "deficiency nuclear type", "complex 2 deficiency nuclear", "2 deficiency nuclear type", "deficiency nuclear type 4", "mc2dn4", "sdhb", "related", "mitocondrial", "ii", "sdhb related", "related nuclear", "type mitocondrial", "mitocondrial complex", "complex ii", "ii deficiency", "sdhb related nuclear", "related nuclear type", "nuclear type mitocondrial", "type mitocondrial complex", "mitocondrial complex ii", "complex ii deficiency", "sdhb related nuclear type", "related nuclear type mitocondrial", "nuclear type mitocondrial complex", "type mitocondrial complex ii", "mitocondrial complex ii deficiency", "sdhb related nuclear type mitocondrial", "related nuclear type mitocondrial complex", "nuclear type mitocondrial complex ii", "type mitocondrial complex ii deficiency", "mitochondrial complex ii", "mitochondrial complex ii deficiency", "ii deficiency nuclear", "complex ii deficiency nuclear", "ii deficiency nuclear type" ] }, { "record_id": "MONDO:0030974", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030974", "record_type": "disease", "section": "proteins", "phraselist": [ "p21912", "p21912 1", "sdhb_human", "np_002991", "glycoprotein", "sdhb", "cws2", "ip", "mc2dn4", "pgl4", "ppgl4", "sdh1", "sdh2", "sdhip", "sdh" ] }, { "record_id": "MONDO:0030974", "record_type": "disease", "section": "proteins", "phraselist": [ "succinate", "dehydrogenase", "ubiquinone", "iron", "sulfur", "subunit", "mitochondrial", "succinate dehydrogenase", "iron sulfur", "sulfur subunit", "dehydrogenase ubiquinone", "ubiquinone iron", "iron sulfur subunit", "subunit mitochondrial", "succinate dehydrogenase ubiquinone", "ubiquinone iron sulfur", "sulfur subunit mitochondrial", "dehydrogenase ubiquinone iron", "ubiquinone iron sulfur subunit", "iron sulfur subunit mitochondrial", "1.1.5.", "1.3.5.1", "ip", "of", "complex", "ii", "subunit of", "of complex", "complex ii", "sulfur subunit of", "subunit of complex", "of complex ii", "iron sulfur subunit of", "sulfur subunit of complex", "subunit of complex ii", "iron sulfur subunit of complex", "sulfur subunit of complex ii", "malate", "quinone", "malate dehydrogenase", "dehydrogenase quinone", "quinone iron", "malate dehydrogenase quinone", "quinone iron sulfur", "dehydrogenase quinone iron", "quinone iron sulfur subunit", "isoform", "precursor", "mitochondrial isoform", "isoform 1", "1 precursor", "mitochondrial isoform 1", "isoform 1 precursor", "subunit mitochondrial isoform", "mitochondrial isoform 1 precursor", "sulfur subunit mitochondrial isoform", "subunit mitochondrial isoform 1", "dehydrogenase complex", "subunit b", "succinate dehydrogenase complex", "complex subunit", "b iron", "sulfur ip", "dehydrogenase complex subunit", "complex subunit b", "subunit b iron", "b iron sulfur", "iron sulfur ip", "succinate dehydrogenase complex subunit", "dehydrogenase complex subunit b", "subunit b iron sulfur" ] }, { "record_id": "MONDO:0030975", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030975", "0030975", "mim:619938", "619938" ] }, { "record_id": "MONDO:0030975", "record_type": "disease", "section": "disease_name", "phraselist": [ "premature", "ovarian", "failure", "20", "premature ovarian", "ovarian failure", "failure 20", "premature ovarian failure", "ovarian failure 20", "premature ovarian failure 20", "pof20" ] }, { "record_id": "MONDO:0030975", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030975", "record_type": "disease", "section": "proteins", "phraselist": [ "o15457", "o15457 1", "msh4_human", "np_002431", "glycoprotein", "msh4", "asg", "pof20", "spgf2" ] }, { "record_id": "MONDO:0030975", "record_type": "disease", "section": "proteins", "phraselist": [ "muts", "protein", "homolog", "muts protein", "protein homolog", "homolog 4", "muts protein homolog", "protein homolog 4", "muts protein homolog 4", "hmsh4" ] }, { "record_id": "MONDO:0030976", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030976", "0030976", "mim:619215", "619215" ] }, { "record_id": "MONDO:0030976", "record_type": "disease", "section": "disease_name", "phraselist": [ "oculomotor", "abducens", "synkinesis", "oculomotor abducens", "abducens synkinesis", "oculomotor abducens synkinesis", "ocabsn" ] }, { "record_id": "MONDO:0030976", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030976", "record_type": "disease", "section": "proteins", "phraselist": [ "p25106", "p25106 1", "ackr3_human", "np_064707", "glycoprotein", "ackr3", "cmkor1", "cxc", "r7", "cxc r7", "cxcr", "cxcr 7", "cxcr7", "gpr159", "rdc", "rdc 1", "rdc1" ] }, { "record_id": "MONDO:0030976", "record_type": "disease", "section": "proteins", "phraselist": [ "atypical", "chemokine", "receptor", "atypical chemokine", "chemokine receptor", "receptor 3", "atypical chemokine receptor", "chemokine receptor 3", "atypical chemokine receptor 3", "type", "c x", "x c", "c chemokine", "receptor type", "type 7", "c x c", "x c chemokine", "c chemokine receptor", "chemokine receptor type", "receptor type 7", "c x c chemokine", "x c chemokine receptor", "c chemokine receptor type", "chemokine receptor type 7", "c x c chemokine receptor", "x c chemokine receptor type", "c chemokine receptor type 7", "cxc", "r7", "cxc r7", "cxcr", "cxcr 7", "orphan", "chemokine orphan", "orphan receptor", "receptor 1", "chemokine orphan receptor", "orphan receptor 1", "chemokine orphan receptor 1", "protein", "coupled", "159", "g protein", "protein coupled", "coupled receptor", "receptor 159", "g protein coupled", "protein coupled receptor", "coupled receptor 159", "g protein coupled receptor", "protein coupled receptor 159", "g protein coupled receptor 159", "rdc1", "homolog", "receptor rdc1", "rdc1 homolog", "coupled receptor rdc1", "receptor rdc1 homolog", "protein coupled receptor rdc1", "coupled receptor rdc1 homolog", "g protein coupled receptor rdc1", "protein coupled receptor rdc1 homolog", "rdc", "rdc 1", "motif", "c motif", "receptor 7", "chemokine c", "x c motif", "motif receptor", "chemokine c x", "c x c motif", "c motif receptor", "motif receptor 7", "chemokine c x c", "x c motif receptor", "c motif receptor 7" ] }, { "record_id": "MONDO:0030978", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030978", "0030978", "mim:619217", "619217" ] }, { "record_id": "MONDO:0030978", "record_type": "disease", "section": "disease_name", "phraselist": [ "endove", "syndrome", "limb", "only", "type", "endove syndrome", "limb only", "only type", "syndrome limb", "limb only type", "endove syndrome limb", "syndrome limb only", "endove syndrome limb only", "syndrome limb only type", "endovesl", "mesomelia", "of", "lower", "extremities", "with", "hand", "and", "foot", "anomalies", "mesomelia of", "of lower", "lower extremities", "extremities with", "with hand", "hand and", "and foot", "foot anomalies", "mesomelia of lower", "of lower extremities", "lower extremities with", "extremities with hand", "with hand and", "hand and foot", "and foot anomalies", "mesomelia of lower extremities", "of lower extremities with", "lower extremities with hand", "extremities with hand and", "with hand and foot", "hand and foot anomalies", "mesomelia of lower extremities with", "of lower extremities with hand", "lower extremities with hand and", "extremities with hand and foot", "with hand and foot anomalies" ] }, { "record_id": "MONDO:0030978", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030978", "record_type": "disease", "section": "proteins", "phraselist": [ "q05925", "q05925 1", "hme1_human", "np_001417", "glycoprotein", "en1", "endoveslb" ] }, { "record_id": "MONDO:0030978", "record_type": "disease", "section": "proteins", "phraselist": [ "homeobox", "protein", "engrailed", "homeobox protein", "protein engrailed", "engrailed 1", "homeobox protein engrailed", "protein engrailed 1", "homeobox protein engrailed 1", "en", "protein en", "en 1", "homeobox protein en", "protein en 1", "homeobox protein en 1", "hu", "hu en", "hu en 1", "homolog", "engrailed homolog", "homolog 1", "engrailed homolog 1" ] }, { "record_id": "MONDO:0030979", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030979", "0030979", "mim:619218", "619218" ] }, { "record_id": "MONDO:0030979", "record_type": "disease", "section": "disease_name", "phraselist": [ "endove", "syndrome", "limb", "brain", "type", "endove syndrome", "limb brain", "brain type", "syndrome limb", "limb brain type", "endove syndrome limb", "syndrome limb brain", "endove syndrome limb brain", "syndrome limb brain type", "endoveslb", "mesomelia", "of", "lower", "extremities", "with", "hand", "foot", "and", "anomalies", "mesomelia of", "of lower", "lower extremities", "extremities with", "with hand", "and brain", "brain anomalies", "mesomelia of lower", "of lower extremities", "lower extremities with", "extremities with hand", "hand foot", "foot and", "and brain anomalies", "mesomelia of lower extremities", "of lower extremities with", "lower extremities with hand", "with hand foot", "foot and brain", "mesomelia of lower extremities with", "of lower extremities with hand", "extremities with hand foot", "hand foot and", "foot and brain anomalies" ] }, { "record_id": "MONDO:0030979", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030979", "record_type": "disease", "section": "proteins", "phraselist": [ "q05925", "q05925 1", "hme1_human", "np_001417", "glycoprotein", "en1", "endoveslb" ] }, { "record_id": "MONDO:0030979", "record_type": "disease", "section": "proteins", "phraselist": [ "homeobox", "protein", "engrailed", "homeobox protein", "protein engrailed", "engrailed 1", "homeobox protein engrailed", "protein engrailed 1", "homeobox protein engrailed 1", "en", "protein en", "en 1", "homeobox protein en", "protein en 1", "homeobox protein en 1", "hu", "hu en", "hu en 1", "homolog", "engrailed homolog", "homolog 1", "engrailed homolog 1" ] }, { "record_id": "MONDO:0030982", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030982", "0030982", "mim:619221", "619221" ] }, { "record_id": "MONDO:0030982", "record_type": "disease", "section": "disease_name", "phraselist": [ "sulfide", "quinone", "oxidoreductase", "deficiency", "sulfide quinone", "quinone oxidoreductase", "oxidoreductase deficiency", "sulfide quinone oxidoreductase", "quinone oxidoreductase deficiency", "sulfide quinone oxidoreductase deficiency", "sqord", "sulfide:quinone", "sulfide:quinone oxidoreductase", "sulfide:quinone oxidoreductase deficiency" ] }, { "record_id": "MONDO:0030982", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030982", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y6n5", "q9y6n5 1", "sqor_human", "np_001258142", "glycoprotein", "sqor", "cgi", "44", "cgi 44", "pro1975", "sqrdl", "sqr" ] }, { "record_id": "MONDO:0030982", "record_type": "disease", "section": "proteins", "phraselist": [ "sulfide:quinone", "oxidoreductase", "mitochondrial", "sulfide:quinone oxidoreductase", "oxidoreductase mitochondrial", "sulfide:quinone oxidoreductase mitochondrial", "1.8.5.8", "sqor", "sulfide", "dehydrogenase", "like", "sulfide dehydrogenase", "dehydrogenase like", "sulfide dehydrogenase like", "quinone", "sulfide quinone", "quinone oxidoreductase", "sulfide quinone oxidoreductase", "reductase", "quinone reductase", "reductase like", "sulfide quinone reductase", "quinone reductase like", "sulfide quinone reductase like" ] }, { "record_id": "MONDO:0030983", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030983", "0030983", "mim:619947", "619947" ] }, { "record_id": "MONDO:0030983", "record_type": "disease", "section": "disease_name", "phraselist": [ "waardenburg", "syndrome", "2f", "waardenburg syndrome", "syndrome 2f", "waardenburg syndrome 2f", "ws2f" ] }, { "record_id": "MONDO:0030983", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030983", "record_type": "disease", "section": "proteins", "phraselist": [ "p21583", "p21583 1", "scf_human", "np_000890", "glycoprotein", "kitlg", "dcua", "dfna69", "fph2", "fphh", "kl", "kl 1", "kitl", "mgf", "scf", "sf", "shep7", "slf", "ws2f" ] }, { "record_id": "MONDO:0030983", "record_type": "disease", "section": "proteins", "phraselist": [ "kit", "ligand", "kit ligand", "mgf", "mast", "cell", "growth", "factor", "mast cell", "cell growth", "growth factor", "mast cell growth", "cell growth factor", "mast cell growth factor", "scf", "stem", "stem cell", "cell factor", "stem cell factor", "c kit", "c kit ligand", "familial", "progressive", "hyperpigmentation", "familial progressive", "progressive hyperpigmentation", "hyperpigmentation 2", "familial progressive hyperpigmentation", "progressive hyperpigmentation 2", "familial progressive hyperpigmentation 2", "isoform", "precursor", "ligand isoform", "isoform b", "b precursor", "kit ligand isoform", "ligand isoform b", "isoform b precursor", "kit ligand isoform b", "ligand isoform b precursor", "kit ligand isoform b precursor", "steel", "steel factor" ] }, { "record_id": "MONDO:0030986", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030986", "0030986", "mim:619226", "619226" ] }, { "record_id": "MONDO:0030986", "record_type": "disease", "section": "disease_name", "phraselist": [ "blistering", "acantholytic", "of", "oral", "and", "laryngeal", "mucosa", "of oral", "oral and", "and laryngeal", "laryngeal mucosa", "blistering acantholytic", "acantholytic of", "of oral and", "oral and laryngeal", "and laryngeal mucosa", "acantholytic of oral", "of oral and laryngeal", "oral and laryngeal mucosa", "blistering acantholytic of", "acantholytic of oral and", "of oral and laryngeal mucosa", "abolm" ] }, { "record_id": "MONDO:0030986", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030986", "record_type": "disease", "section": "proteins", "phraselist": [ "p32926", "p32926 1", "dsg3_human", "np_001935", "glycoprotein", "dsg3", "abolm", "cdhf6", "pva" ] }, { "record_id": "MONDO:0030986", "record_type": "disease", "section": "proteins", "phraselist": [ "desmoglein", "desmoglein 3", "130", "kda", "pemphigus", "vulgaris", "antigen", "130 kda", "kda pemphigus", "pemphigus vulgaris", "vulgaris antigen", "130 kda pemphigus", "kda pemphigus vulgaris", "pemphigus vulgaris antigen", "130 kda pemphigus vulgaris", "kda pemphigus vulgaris antigen", "130 kda pemphigus vulgaris antigen", "cadherin", "family", "member", "cadherin family", "family member", "member 6", "cadherin family member", "family member 6", "cadherin family member 6", "pva", "preproprotein", "3 preproprotein", "desmoglein 3 preproprotein" ] }, { "record_id": "MONDO:0030987", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030987", "0030987", "mim:619227", "619227" ] }, { "record_id": "MONDO:0030987", "record_type": "disease", "section": "disease_name", "phraselist": [ "vertebral", "cardiac", "tracheoesophageal", "renal", "and", "limb", "defects", "and limb", "limb defects", "vertebral cardiac", "cardiac tracheoesophageal", "tracheoesophageal renal", "renal and", "and limb defects", "renal and limb", "vertebral cardiac tracheoesophageal", "cardiac tracheoesophageal renal", "tracheoesophageal renal and", "renal and limb defects", "vcterl", "syndrome", "vcterl syndrome" ] }, { "record_id": "MONDO:0030987", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030987", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y2w2", "q9y2w2 1", "wbp11_human", "np_057396", "glycoprotein", "wbp11", "bug13", "npwbp", "ppp1r165", "sipp1", "snp70", "vcterl", "vctrl", "wbp", "11", "wbp 11" ] }, { "record_id": "MONDO:0030987", "record_type": "disease", "section": "proteins", "phraselist": [ "ww", "domain", "binding", "protein", "11", "ww domain", "domain binding", "binding protein", "protein 11", "ww domain binding", "domain binding protein", "binding protein 11", "ww domain binding protein", "domain binding protein 11", "ww domain binding protein 11", "npw38", "npwbp", "npw38 binding", "protein npwbp", "npw38 binding protein", "binding protein npwbp", "npw38 binding protein npwbp", "sh3", "snp70", "sh3 domain", "protein snp70", "sh3 domain binding", "binding protein snp70", "sh3 domain binding protein", "domain binding protein snp70", "sh3 domain binding protein snp70", "splicing", "factor", "that", "interacts", "with", "pqbp", "and", "pp1", "splicing factor", "factor that", "that interacts", "interacts with", "with pqbp", "pqbp 1", "1 and", "and pp1", "splicing factor that", "factor that interacts", "that interacts with", "interacts with pqbp", "with pqbp 1", "pqbp 1 and", "1 and pp1", "splicing factor that interacts", "factor that interacts with", "that interacts with pqbp", "interacts with pqbp 1", "with pqbp 1 and", "pqbp 1 and pp1", "splicing factor that interacts with", "factor that interacts with pqbp", "that interacts with pqbp 1", "interacts with pqbp 1 and", "with pqbp 1 and pp1", "wbp", "wbp 11", "phosphatase", "regulatory", "subunit", "165", "protein phosphatase", "phosphatase 1", "regulatory subunit", "subunit 165", "protein phosphatase 1", "1 regulatory", "regulatory subunit 165", "phosphatase 1 regulatory", "1 regulatory subunit", "protein phosphatase 1 regulatory", "phosphatase 1 regulatory subunit", "1 regulatory subunit 165", "pqbp1", "interacting", "pqbp1 and", "pp1 interacting", "factor pqbp1", "pqbp1 and pp1", "and pp1 interacting", "splicing factor pqbp1", "factor pqbp1 and", "pqbp1 and pp1 interacting", "splicing factor pqbp1 and", "factor pqbp1 and pp1" ] }, { "record_id": "MONDO:0030988", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030988", "0030988", "mim:619228", "619228" ] }, { "record_id": "MONDO:0030988", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "delay", "with", "dysmorphic", "facies", "and", "dental", "anomalies", "developmental delay", "delay with", "with dysmorphic", "dysmorphic facies", "facies and", "and dental", "dental anomalies", "developmental delay with", "delay with dysmorphic", "with dysmorphic facies", "dysmorphic facies and", "facies and dental", "and dental anomalies", "developmental delay with dysmorphic", "delay with dysmorphic facies", "with dysmorphic facies and", "dysmorphic facies and dental", "facies and dental anomalies", "developmental delay with dysmorphic facies", "delay with dysmorphic facies and", "with dysmorphic facies and dental", "dysmorphic facies and dental anomalies", "defda" ] }, { "record_id": "MONDO:0030988", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030988", "record_type": "disease", "section": "proteins", "phraselist": [ "q01826", "q01826 1", "satb1_human", "np_001124482", "glycoprotein", "satb1", "defda", "dhdbv", "ktzsl" ] }, { "record_id": "MONDO:0030988", "record_type": "disease", "section": "proteins", "phraselist": [ "dna", "binding", "protein", "satb1", "dna binding", "binding protein", "protein satb1", "dna binding protein", "binding protein satb1", "dna binding protein satb1", "isoform", "satb1 isoform", "isoform 1", "protein satb1 isoform", "satb1 isoform 1", "binding protein satb1 isoform", "protein satb1 isoform 1", "dna binding protein satb1 isoform", "binding protein satb1 isoform 1", "special", "at", "rich", "sequence", "special at", "at rich", "rich sequence", "sequence binding", "protein 1", "special at rich", "at rich sequence", "rich sequence binding", "sequence binding protein", "binding protein 1", "special at rich sequence", "at rich sequence binding", "rich sequence binding protein", "sequence binding protein 1", "special at rich sequence binding", "at rich sequence binding protein", "rich sequence binding protein 1", "binds", "to", "nuclear", "matrix/scaffold", "associating", "binds to", "to nuclear", "nuclear matrix/scaffold", "matrix/scaffold associating", "associating dna", "1 binds", "binds to nuclear", "to nuclear matrix/scaffold", "nuclear matrix/scaffold associating", "matrix/scaffold associating dna", "protein 1 binds", "1 binds to", "binds to nuclear matrix/scaffold", "to nuclear matrix/scaffold associating", "nuclear matrix/scaffold associating dna", "binding protein 1 binds", "protein 1 binds to", "1 binds to nuclear", "binds to nuclear matrix/scaffold associating", "to nuclear matrix/scaffold associating dna" ] }, { "record_id": "MONDO:0030990", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030990", "0030990", "mim:619229", "619229" ] }, { "record_id": "MONDO:0030990", "record_type": "disease", "section": "disease_name", "phraselist": [ "kohlschutter", "tonz", "syndrome", "like", "kohlschutter tonz", "tonz syndrome", "syndrome like", "kohlschutter tonz syndrome", "tonz syndrome like", "kohlschutter tonz syndrome like", "ktzsl", "den", "hoed", "de", "boer", "voisin", "den hoed", "hoed de", "de boer", "boer voisin", "voisin syndrome", "den hoed de", "hoed de boer", "de boer voisin", "boer voisin syndrome", "den hoed de boer", "hoed de boer voisin", "de boer voisin syndrome", "den hoed de boer voisin", "hoed de boer voisin syndrome" ] }, { "record_id": "MONDO:0030990", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030990", "record_type": "disease", "section": "proteins", "phraselist": [ "q01826", "q01826 1", "satb1_human", "np_001124482", "glycoprotein", "satb1", "defda", "dhdbv", "ktzsl" ] }, { "record_id": "MONDO:0030990", "record_type": "disease", "section": "proteins", "phraselist": [ "dna", "binding", "protein", "satb1", "dna binding", "binding protein", "protein satb1", "dna binding protein", "binding protein satb1", "dna binding protein satb1", "isoform", "satb1 isoform", "isoform 1", "protein satb1 isoform", "satb1 isoform 1", "binding protein satb1 isoform", "protein satb1 isoform 1", "dna binding protein satb1 isoform", "binding protein satb1 isoform 1", "special", "at", "rich", "sequence", "special at", "at rich", "rich sequence", "sequence binding", "protein 1", "special at rich", "at rich sequence", "rich sequence binding", "sequence binding protein", "binding protein 1", "special at rich sequence", "at rich sequence binding", "rich sequence binding protein", "sequence binding protein 1", "special at rich sequence binding", "at rich sequence binding protein", "rich sequence binding protein 1", "binds", "to", "nuclear", "matrix/scaffold", "associating", "binds to", "to nuclear", "nuclear matrix/scaffold", "matrix/scaffold associating", "associating dna", "1 binds", "binds to nuclear", "to nuclear matrix/scaffold", "nuclear matrix/scaffold associating", "matrix/scaffold associating dna", "protein 1 binds", "1 binds to", "binds to nuclear matrix/scaffold", "to nuclear matrix/scaffold associating", "nuclear matrix/scaffold associating dna", "binding protein 1 binds", "protein 1 binds to", "1 binds to nuclear", "binds to nuclear matrix/scaffold associating", "to nuclear matrix/scaffold associating dna" ] }, { "record_id": "MONDO:0030992", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030992", "0030992", "mim:619234", "619234" ] }, { "record_id": "MONDO:0030992", "record_type": "disease", "section": "disease_name", "phraselist": [ "short", "stature", "oligodontia", "dysmorphic", "facies", "and", "motor", "delay", "short stature", "dysmorphic facies", "and motor", "motor delay", "stature oligodontia", "oligodontia dysmorphic", "facies and", "and motor delay", "short stature oligodontia", "oligodontia dysmorphic facies", "dysmorphic facies and", "facies and motor", "stature oligodontia dysmorphic", "dysmorphic facies and motor", "facies and motor delay", "sofm" ] }, { "record_id": "MONDO:0030992", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030992", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bt43", "q9bt43 1", "rpc7l_human", "np_001317614", "polr3gl", "rpc32hom", "sofm", "flj32422" ] }, { "record_id": "MONDO:0030992", "record_type": "disease", "section": "proteins", "phraselist": [ "dna", "directed", "rna", "polymerase", "iii", "subunit", "rpc7", "like", "dna directed", "directed rna", "rna polymerase", "polymerase iii", "iii subunit", "subunit rpc7", "rpc7 like", "dna directed rna", "directed rna polymerase", "rna polymerase iii", "polymerase iii subunit", "iii subunit rpc7", "subunit rpc7 like", "dna directed rna polymerase", "directed rna polymerase iii", "rna polymerase iii subunit", "polymerase iii subunit rpc7", "iii subunit rpc7 like", "dna directed rna polymerase iii", "directed rna polymerase iii subunit", "rna polymerase iii subunit rpc7", "polymerase iii subunit rpc7 like", "subunit g", "g like", "iii subunit g", "subunit g like", "polymerase iii subunit g", "iii subunit g like", "rna polymerase iii subunit g", "polymerase iii subunit g like", "isoform", "like isoform", "isoform 2", "rpc7 like isoform", "like isoform 2", "subunit rpc7 like isoform", "rpc7 like isoform 2", "iii subunit rpc7 like isoform", "subunit rpc7 like isoform 2", "32", "kda", "beta", "iii 32", "32 kda", "kda beta", "beta subunit", "polymerase iii 32", "iii 32 kda", "32 kda beta", "kda beta subunit", "rna polymerase iii 32", "polymerase iii 32 kda", "iii 32 kda beta", "32 kda beta subunit", "rna polymerase iii 32 kda", "polymerase iii 32 kda beta", "iii 32 kda beta subunit", "c7", "subunit c7", "c7 like", "iii subunit c7", "subunit c7 like", "polymerase iii subunit c7", "iii subunit c7 like", "rna polymerase iii subunit c7", "polymerase iii subunit c7 like", "rpc32", "rpc32 beta", "protein", "rpc32 like", "like protein", "rpc32 like protein", "alternative", "alternative rna", "subunit 32", "alternative rna polymerase", "iii subunit 32", "alternative rna polymerase iii", "polymerase iii subunit 32", "alternative rna polymerase iii subunit", "rna polymerase iii subunit 32", "polypeptide", "32kd", "polypeptide g", "polymerase rna", "rna iii", "iii dna", "directed polypeptide", "g 32kd", "32kd like", "iii dna directed", "dna directed polypeptide", "directed polypeptide g", "polypeptide g 32kd", "polymerase rna iii", "rna iii dna", "dna directed polypeptide g", "g 32kd like", "rna iii subunit", "rna iii subunit g" ] }, { "record_id": "MONDO:0030993", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030993", "0030993", "mim:619950", "619950" ] }, { "record_id": "MONDO:0030993", "record_type": "disease", "section": "disease_name", "phraselist": [ "tessadori", "van", "haaften", "neurodevelopmental", "syndrome", "tessadori van", "van haaften", "haaften neurodevelopmental", "neurodevelopmental syndrome", "syndrome 3", "tessadori van haaften", "van haaften neurodevelopmental", "haaften neurodevelopmental syndrome", "neurodevelopmental syndrome 3", "tessadori van haaften neurodevelopmental", "van haaften neurodevelopmental syndrome", "haaften neurodevelopmental syndrome 3", "tessadori van haaften neurodevelopmental syndrome", "van haaften neurodevelopmental syndrome 3", "tevaned3", "bicknell", "tessadori bicknell", "bicknell van", "tessadori bicknell van", "bicknell van haaften", "tessadori bicknell van haaften", "bicknell van haaften neurodevelopmental", "tessadori bicknell van haaften neurodevelopmental", "bicknell van haaften neurodevelopmental syndrome" ] }, { "record_id": "MONDO:0030993", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030993", "record_type": "disease", "section": "proteins", "phraselist": [ "p62805", "p62805 1", "h4_human", "np_001029249", "glycoprotein", "h4c11", "h4c12", "h4c13", "h4c14", "h4c15", "h4c16", "h4c1", "h4c2", "h4c3", "h4c4", "h4c5", "h4c6", "h4c8", "h4c9", "h4", "16", "h4 16", "h4/o", "h4f2", "h4fa", "h4fb", "h4fc", "h4fd", "h4fe", "h4fg", "h4fh", "h4fi", "h4fj", "h4fk", "h4fm", "h4fn", "h4fo", "hist1h4a", "hist1h4b", "hist1h4c", "hist1h4d", "hist1h4e", "hist1h4f", "hist1h4h", "hist1h4i", "hist1h4j", "hist1h4k", "hist1h4l", "hist2h4a", "hist2h4b", "hist2h4", "hist4h4" ] }, { "record_id": "MONDO:0030993", "record_type": "disease", "section": "proteins", "phraselist": [ "histone", "h4", "histone h4", "h4b", "histone 2", "2 h4b", "histone 2 h4b", "cluster", "family", "member", "histone cluster", "cluster 2", "2 h4", "h4 family", "family member", "member b", "histone cluster 2", "cluster 2 h4", "2 h4 family", "h4 family member", "family member b", "histone cluster 2 h4", "cluster 2 h4 family", "2 h4 family member", "h4 family member b", "histone cluster 2 h4 family", "cluster 2 h4 family member", "2 h4 family member b", "cluster 2 h4b", "histone cluster 2 h4b" ] }, { "record_id": "MONDO:0030995", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030995", "0030995", "mim:619243", "619243" ] }, { "record_id": "MONDO:0030995", "record_type": "disease", "section": "disease_name", "phraselist": [ "global", "developmental", "delay", "with", "speech", "and", "behavioral", "abnormalities", "global developmental", "developmental delay", "delay with", "with speech", "speech and", "and behavioral", "behavioral abnormalities", "global developmental delay", "developmental delay with", "delay with speech", "with speech and", "speech and behavioral", "and behavioral abnormalities", "global developmental delay with", "developmental delay with speech", "delay with speech and", "with speech and behavioral", "speech and behavioral abnormalities", "global developmental delay with speech", "developmental delay with speech and", "delay with speech and behavioral", "with speech and behavioral abnormalities", "gdsba" ] }, { "record_id": "MONDO:0030995", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030995", "record_type": "disease", "section": "proteins", "phraselist": [ "q9upq9", "q9upq9 3", "tnr6b_human", "np_001020014", "glycoprotein", "tnrc6b", "gdsba", "kiaa1093" ] }, { "record_id": "MONDO:0030995", "record_type": "disease", "section": "proteins", "phraselist": [ "trinucleotide", "repeat", "containing", "gene", "6b", "protein", "trinucleotide repeat", "repeat containing", "containing gene", "gene 6b", "6b protein", "trinucleotide repeat containing", "repeat containing gene", "containing gene 6b", "gene 6b protein", "trinucleotide repeat containing gene", "repeat containing gene 6b", "containing gene 6b protein", "trinucleotide repeat containing gene 6b", "repeat containing gene 6b protein", "containing 6b", "repeat containing 6b", "trinucleotide repeat containing 6b", "isoform", "protein isoform", "isoform 3", "6b protein isoform", "protein isoform 3", "gene 6b protein isoform", "6b protein isoform 3", "containing gene 6b protein isoform", "gene 6b protein isoform 3" ] }, { "record_id": "MONDO:0030996", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030996", "0030996", "mim:619271", "619271" ] }, { "record_id": "MONDO:0030996", "record_type": "disease", "section": "disease_name", "phraselist": [ "bleeding", "disorder", "platelet", "type", "24", "bleeding disorder", "platelet type", "disorder platelet", "type 24", "bleeding disorder platelet", "disorder platelet type", "platelet type 24", "bleeding disorder platelet type", "bdplt24", "glanzmann", "thrombasthenia", "like", "with", "macrothrombocytopenia", "glanzmann thrombasthenia", "thrombasthenia like", "like with", "with macrothrombocytopenia", "macrothrombocytopenia 2", "glanzmann thrombasthenia like", "thrombasthenia like with", "like with macrothrombocytopenia", "with macrothrombocytopenia 2", "glanzmann thrombasthenia like with", "thrombasthenia like with macrothrombocytopenia", "like with macrothrombocytopenia 2", "glanzmann thrombasthenia like with macrothrombocytopenia", "thrombasthenia like with macrothrombocytopenia 2", "autosomal", "dominant", "autosomal dominant", "24 autosomal", "24 autosomal dominant", "type 24 autosomal" ] }, { "record_id": "MONDO:0030996", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030996", "record_type": "disease", "section": "proteins", "phraselist": [ "p05106", "p05106 1", "itb3_human", "np_000203", "glycoprotein", "itgb3", "bdplt16", "bdplt24", "bdplt2", "cd61", "fmait1", "gp3a", "gpiiia", "gt2", "gt" ] }, { "record_id": "MONDO:0030996", "record_type": "disease", "section": "proteins", "phraselist": [ "integrin", "beta", "integrin beta", "beta 3", "integrin beta 3", "gpiiia", "platelet", "membrane", "glycoprotein", "iiia", "platelet membrane", "membrane glycoprotein", "glycoprotein iiia", "platelet membrane glycoprotein", "membrane glycoprotein iiia", "platelet membrane glycoprotein iiia", "chain", "beta chain", "integrin beta chain", "chain beta", "beta chain beta", "chain beta 3", "integrin beta chain beta", "beta chain beta 3", "precursor", "3 precursor", "beta 3 precursor", "integrin beta 3 precursor", "antigen", "cd61", "platelet glycoprotein", "antigen cd61", "3 platelet", "platelet glycoprotein iiia", "iiia antigen", "beta 3 platelet", "3 platelet glycoprotein", "glycoprotein iiia antigen", "iiia antigen cd61", "beta 3 platelet glycoprotein", "3 platelet glycoprotein iiia", "platelet glycoprotein iiia antigen", "glycoprotein iiia antigen cd61" ] }, { "record_id": "MONDO:0030997", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030997", "0030997", "mim:619272", "619272" ] }, { "record_id": "MONDO:0030997", "record_type": "disease", "section": "disease_name", "phraselist": [ "mitochondrial", "complex", "deficiency", "nuclear", "type", "37", "mitochondrial complex", "complex i", "i deficiency", "nuclear type", "type 37", "mitochondrial complex i", "complex i deficiency", "deficiency nuclear", "nuclear type 37", "mitochondrial complex i deficiency", "i deficiency nuclear", "deficiency nuclear type", "complex i deficiency nuclear", "i deficiency nuclear type", "deficiency nuclear type 37", "mc1dn37", "complex 1", "1 deficiency", "mitochondrial complex 1", "complex 1 deficiency", "mitochondrial complex 1 deficiency", "1 deficiency nuclear", "complex 1 deficiency nuclear", "1 deficiency nuclear type" ] }, { "record_id": "MONDO:0030997", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030997", "record_type": "disease", "section": "proteins", "phraselist": [ "p51970", "p51970 1", "ndua8_human", "np_055037", "glycoprotein", "ndufa8", "ci", "19kd", "ci 19kd", "pgiv", "ci pgiv", "mc1dn37" ] }, { "record_id": "MONDO:0030997", "record_type": "disease", "section": "proteins", "phraselist": [ "nadh", "dehydrogenase", "ubiquinone", "alpha", "subcomplex", "subunit", "nadh dehydrogenase", "1 alpha", "alpha subcomplex", "subcomplex subunit", "subunit 8", "dehydrogenase ubiquinone", "ubiquinone 1", "1 alpha subcomplex", "alpha subcomplex subunit", "subcomplex subunit 8", "nadh dehydrogenase ubiquinone", "ubiquinone 1 alpha", "1 alpha subcomplex subunit", "alpha subcomplex subunit 8", "dehydrogenase ubiquinone 1", "ubiquinone 1 alpha subcomplex", "1 alpha subcomplex subunit 8", "ci", "19kd", "ci 19kd", "pgiv", "ci pgiv", "complex", "complex i", "i 19kd", "complex i 19kd", "i pgiv", "complex i pgiv", "19kda", "subcomplex 8", "8 19kda", "alpha subcomplex 8", "1 alpha subcomplex 8", "subcomplex 8 19kda", "isoform", "8 isoform", "isoform 1", "subunit 8 isoform", "8 isoform 1", "subcomplex subunit 8 isoform", "subunit 8 isoform 1", "alpha subcomplex subunit 8 isoform", "subcomplex subunit 8 isoform 1", "oxidoreductase", "19", "kda", "nadh ubiquinone", "ubiquinone oxidoreductase", "oxidoreductase 19", "19 kda", "kda subunit", "nadh ubiquinone oxidoreductase", "ubiquinone oxidoreductase 19", "oxidoreductase 19 kda", "19 kda subunit", "nadh ubiquinone oxidoreductase 19", "ubiquinone oxidoreductase 19 kda", "oxidoreductase 19 kda subunit", "nadh ubiquinone oxidoreductase 19 kda", "ubiquinone oxidoreductase 19 kda subunit", "nadh:ubiquinone", "nadh:ubiquinone oxidoreductase", "oxidoreductase pgiv", "pgiv subunit", "nadh:ubiquinone oxidoreductase pgiv", "oxidoreductase pgiv subunit", "nadh:ubiquinone oxidoreductase pgiv subunit" ] }, { "record_id": "MONDO:0030999", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0030999", "0030999", "mim:619244", "619244" ] }, { "record_id": "MONDO:0030999", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "cerebral", "atrophy", "and", "variable", "facial", "dysmorphism", "neurodevelopmental disorder", "disorder with", "with cerebral", "cerebral atrophy", "atrophy and", "and variable", "variable facial", "facial dysmorphism", "neurodevelopmental disorder with", "disorder with cerebral", "with cerebral atrophy", "cerebral atrophy and", "atrophy and variable", "and variable facial", "variable facial dysmorphism", "neurodevelopmental disorder with cerebral", "disorder with cerebral atrophy", "with cerebral atrophy and", "cerebral atrophy and variable", "atrophy and variable facial", "and variable facial dysmorphism", "neurodevelopmental disorder with cerebral atrophy", "disorder with cerebral atrophy and", "with cerebral atrophy and variable", "cerebral atrophy and variable facial", "atrophy and variable facial dysmorphism", "nedcafd" ] }, { "record_id": "MONDO:0030999", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0030999", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n0z6", "q8n0z6 1", "ttc5_human", "np_612385", "glycoprotein", "ttc5", "nedcafd", "strap" ] }, { "record_id": "MONDO:0030999", "record_type": "disease", "section": "proteins", "phraselist": [ "tetratricopeptide", "repeat", "protein", "tetratricopeptide repeat", "repeat protein", "protein 5", "tetratricopeptide repeat protein", "repeat protein 5", "tetratricopeptide repeat protein 5", "strap", "protein strap", "stress", "responsive", "activator", "of", "p300", "stress responsive", "responsive activator", "activator of", "of p300", "stress responsive activator", "responsive activator of", "activator of p300", "stress responsive activator of", "responsive activator of p300", "stress responsive activator of p300", "tpr", "tpr repeat", "tpr repeat protein", "tpr repeat protein 5" ] }, { "record_id": "MONDO:0031000", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0031000", "0031000", "mim:619951", "619951" ] }, { "record_id": "MONDO:0031000", "record_type": "disease", "section": "disease_name", "phraselist": [ "tessadori", "van", "haaften", "neurodevelopmental", "syndrome", "tessadori van", "van haaften", "haaften neurodevelopmental", "neurodevelopmental syndrome", "syndrome 4", "tessadori van haaften", "van haaften neurodevelopmental", "haaften neurodevelopmental syndrome", "neurodevelopmental syndrome 4", "tessadori van haaften neurodevelopmental", "van haaften neurodevelopmental syndrome", "haaften neurodevelopmental syndrome 4", "tessadori van haaften neurodevelopmental syndrome", "van haaften neurodevelopmental syndrome 4", "tevaned4", "bicknell", "tessadori bicknell", "bicknell van", "tessadori bicknell van", "bicknell van haaften", "tessadori bicknell van haaften", "bicknell van haaften neurodevelopmental", "tessadori bicknell van haaften neurodevelopmental", "bicknell van haaften neurodevelopmental syndrome" ] }, { "record_id": "MONDO:0031000", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0031000", "record_type": "disease", "section": "proteins", "phraselist": [ "p62805", "p62805 1", "h4_human", "np_001029249", "glycoprotein", "h4c11", "h4c12", "h4c13", "h4c14", "h4c15", "h4c16", "h4c1", "h4c2", "h4c3", "h4c4", "h4c5", "h4c6", "h4c8", "h4c9", "h4", "16", "h4 16", "h4/o", "h4f2", "h4fa", "h4fb", "h4fc", "h4fd", "h4fe", "h4fg", "h4fh", "h4fi", "h4fj", "h4fk", "h4fm", "h4fn", "h4fo", "hist1h4a", "hist1h4b", "hist1h4c", "hist1h4d", "hist1h4e", "hist1h4f", "hist1h4h", "hist1h4i", "hist1h4j", "hist1h4k", "hist1h4l", "hist2h4a", "hist2h4b", "hist2h4", "hist4h4" ] }, { "record_id": "MONDO:0031000", "record_type": "disease", "section": "proteins", "phraselist": [ "histone", "h4", "histone h4", "h4b", "histone 2", "2 h4b", "histone 2 h4b", "cluster", "family", "member", "histone cluster", "cluster 2", "2 h4", "h4 family", "family member", "member b", "histone cluster 2", "cluster 2 h4", "2 h4 family", "h4 family member", "family member b", "histone cluster 2 h4", "cluster 2 h4 family", "2 h4 family member", "h4 family member b", "histone cluster 2 h4 family", "cluster 2 h4 family member", "2 h4 family member b", "cluster 2 h4b", "histone cluster 2 h4b" ] }, { "record_id": "MONDO:0031001", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0031001", "0031001", "mim:619248", "619248" ] }, { "record_id": "MONDO:0031001", "record_type": "disease", "section": "disease_name", "phraselist": [ "vitreoretinopathy", "with", "phalangeal", "epiphyseal", "dysplasia", "vitreoretinopathy with", "with phalangeal", "phalangeal epiphyseal", "epiphyseal dysplasia", "vitreoretinopathy with phalangeal", "with phalangeal epiphyseal", "phalangeal epiphyseal dysplasia", "vitreoretinopathy with phalangeal epiphyseal", "with phalangeal epiphyseal dysplasia", "vitreoretinopathy with phalangeal epiphyseal dysplasia", "vped" ] }, { "record_id": "MONDO:0031001", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0031001", "record_type": "disease", "section": "proteins", "phraselist": [ "p02458", "p02458 2", "co2a1_human", "np_001835", "glycoprotein", "col2a1", "acg2", "anfh1", "anfh", "aom", "col11a3", "edmmd", "lcpd", "oscdp", "plsdt", "sedc", "sedstn", "semdstwk", "smdalg", "stl1", "vped" ] }, { "record_id": "MONDO:0031001", "record_type": "disease", "section": "proteins", "phraselist": [ "collagen", "alpha", "ii", "chain", "collagen alpha", "alpha 1", "1 ii", "collagen alpha 1", "alpha 1 ii", "ii chain", "collagen alpha 1 ii", "1 ii chain", "alpha 1 ii chain", "type", "1 type", "type ii", "ii collagen", "alpha 1 type", "1 type ii", "type ii collagen", "alpha 1 type ii", "1 type ii collagen", "alpha 1 type ii collagen", "arthroophthalmopathy", "progressive", "stickler", "syndrome", "stickler syndrome", "arthroophthalmopathy progressive", "progressive stickler", "progressive stickler syndrome", "arthroophthalmopathy progressive stickler", "cartilage", "cartilage collagen", "chondrocalcin", "polypeptide", "collagen ii", "1 polypeptide", "ii alpha", "alpha 1 polypeptide", "collagen ii alpha", "ii alpha 1", "collagen ii alpha 1", "ii alpha 1 polypeptide", "isoform", "precursor", "chain isoform", "isoform 1", "1 precursor", "chain isoform 1", "isoform 1 precursor", "ii chain isoform", "chain isoform 1 precursor", "1 ii chain isoform", "ii chain isoform 1", "collagen type", "collagen type ii", "type ii alpha", "type ii alpha 1" ] }, { "record_id": "MONDO:0031002", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0031002", "0031002", "mim:619255", "619255" ] }, { "record_id": "MONDO:0031002", "record_type": "disease", "section": "disease_name", "phraselist": [ "baralle", "macken", "syndrome", "baralle macken", "macken syndrome", "baralle macken syndrome", "barmacs", "neurodevelopmental", "disorder", "with", "cataracts", "and", "variable", "microcephaly", "neurodevelopmental disorder", "disorder with", "with cataracts", "cataracts and", "and variable", "variable microcephaly", "neurodevelopmental disorder with", "disorder with cataracts", "with cataracts and", "cataracts and variable", "and variable microcephaly", "neurodevelopmental disorder with cataracts", "disorder with cataracts and", "with cataracts and variable", "cataracts and variable microcephaly", "neurodevelopmental disorder with cataracts and", "disorder with cataracts and variable", "with cataracts and variable microcephaly" ] }, { "record_id": "MONDO:0031002", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0031002", "record_type": "disease", "section": "proteins", "phraselist": [ "p53618", "p53618 1", "copb_human", "np_001137533", "glycoprotein", "copb1", "barmacs", "copb", "mstp026" ] }, { "record_id": "MONDO:0031002", "record_type": "disease", "section": "proteins", "phraselist": [ "coatomer", "subunit", "beta", "coatomer subunit", "subunit beta", "coatomer subunit beta", "cop", "beta cop", "coat", "protein", "beta coat", "coat protein", "beta coat protein", "copi", "complex", "copi coat", "coat complex", "complex subunit", "beta 1", "copi coat complex", "coat complex subunit", "complex subunit beta", "subunit beta 1", "copi coat complex subunit", "coat complex subunit beta", "complex subunit beta 1", "copi coat complex subunit beta", "coat complex subunit beta 1", "coatomer protein", "protein complex", "coatomer protein complex", "protein complex subunit", "coatomer protein complex subunit", "protein complex subunit beta", "coatomer protein complex subunit beta", "protein complex subunit beta 1" ] }, { "record_id": "MONDO:0031006", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0031006", "0031006", "mim:619259", "619259" ] }, { "record_id": "MONDO:0031006", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodegeneration", "with", "ataxia", "and", "late", "onset", "optic", "atrophy", "neurodegeneration with", "with ataxia", "ataxia and", "and late", "late onset", "onset optic", "optic atrophy", "neurodegeneration with ataxia", "with ataxia and", "ataxia and late", "and late onset", "late onset optic", "onset optic atrophy", "neurodegeneration with ataxia and", "with ataxia and late", "ataxia and late onset", "and late onset optic", "late onset optic atrophy", "neurodegeneration with ataxia and late", "with ataxia and late onset", "ataxia and late onset optic", "and late onset optic atrophy", "ndaxoa" ] }, { "record_id": "MONDO:0031006", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0031006", "record_type": "disease", "section": "proteins", "phraselist": [ "p31040", "p31040 1", "sdha_human", "np_001281261", "glycoprotein", "sdha", "cmd1gg", "fp", "mc2dn1", "ndaxoa", "pgl5", "ppgl5", "sdh1", "sdh2", "sdhf" ] }, { "record_id": "MONDO:0031006", "record_type": "disease", "section": "proteins", "phraselist": [ "succinate", "dehydrogenase", "ubiquinone", "flavoprotein", "subunit", "mitochondrial", "succinate dehydrogenase", "flavoprotein subunit", "dehydrogenase ubiquinone", "ubiquinone flavoprotein", "subunit mitochondrial", "succinate dehydrogenase ubiquinone", "ubiquinone flavoprotein subunit", "flavoprotein subunit mitochondrial", "dehydrogenase ubiquinone flavoprotein", "1.1.5.", "1.3.5.1", "of", "complex", "ii", "subunit of", "of complex", "complex ii", "flavoprotein subunit of", "subunit of complex", "of complex ii", "flavoprotein subunit of complex", "subunit of complex ii", "flavoprotein subunit of complex ii", "fp", "malate", "quinone", "malate dehydrogenase", "dehydrogenase quinone", "quinone flavoprotein", "malate dehydrogenase quinone", "quinone flavoprotein subunit", "dehydrogenase quinone flavoprotein", "isoform", "mitochondrial isoform", "isoform 2", "mitochondrial isoform 2", "subunit mitochondrial isoform", "flavoprotein subunit mitochondrial isoform", "subunit mitochondrial isoform 2", "dehydrogenase complex", "subunit a", "succinate dehydrogenase complex", "complex subunit", "a flavoprotein", "flavoprotein fp", "dehydrogenase complex subunit", "complex subunit a", "subunit a flavoprotein", "succinate dehydrogenase complex subunit", "dehydrogenase complex subunit a", "a flavoprotein fp" ] }, { "record_id": "MONDO:0031009", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0031009", "0031009", "mim:619267", "619267" ] }, { "record_id": "MONDO:0031009", "record_type": "disease", "section": "disease_name", "phraselist": [ "glanzmann", "thrombasthenia", "glanzmann thrombasthenia", "thrombasthenia 2", "glanzmann thrombasthenia 2", "gt2", "bleeding", "disorder", "platelet", "type", "23", "bleeding disorder", "platelet type", "disorder platelet", "type 23", "bleeding disorder platelet", "disorder platelet type", "platelet type 23", "bleeding disorder platelet type" ] }, { "record_id": "MONDO:0031009", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0031009", "record_type": "disease", "section": "proteins", "phraselist": [ "p05106", "p05106 1", "itb3_human", "np_000203", "glycoprotein", "itgb3", "bdplt16", "bdplt24", "bdplt2", "cd61", "fmait1", "gp3a", "gpiiia", "gt2", "gt" ] }, { "record_id": "MONDO:0031009", "record_type": "disease", "section": "proteins", "phraselist": [ "integrin", "beta", "integrin beta", "beta 3", "integrin beta 3", "gpiiia", "platelet", "membrane", "glycoprotein", "iiia", "platelet membrane", "membrane glycoprotein", "glycoprotein iiia", "platelet membrane glycoprotein", "membrane glycoprotein iiia", "platelet membrane glycoprotein iiia", "chain", "beta chain", "integrin beta chain", "chain beta", "beta chain beta", "chain beta 3", "integrin beta chain beta", "beta chain beta 3", "precursor", "3 precursor", "beta 3 precursor", "integrin beta 3 precursor", "antigen", "cd61", "platelet glycoprotein", "antigen cd61", "3 platelet", "platelet glycoprotein iiia", "iiia antigen", "beta 3 platelet", "3 platelet glycoprotein", "glycoprotein iiia antigen", "iiia antigen cd61", "beta 3 platelet glycoprotein", "3 platelet glycoprotein iiia", "platelet glycoprotein iiia antigen", "glycoprotein iiia antigen cd61" ] }, { "record_id": "MONDO:0031010", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0031010", "0031010", "mim:619269", "619269" ] }, { "record_id": "MONDO:0031010", "record_type": "disease", "section": "disease_name", "phraselist": [ "odontochondrodysplasia", "with", "hearing", "loss", "and", "diabetes", "odontochondrodysplasia 2", "2 with", "with hearing", "hearing loss", "loss and", "and diabetes", "odontochondrodysplasia 2 with", "2 with hearing", "with hearing loss", "hearing loss and", "loss and diabetes", "odontochondrodysplasia 2 with hearing", "2 with hearing loss", "with hearing loss and", "hearing loss and diabetes", "odontochondrodysplasia 2 with hearing loss", "2 with hearing loss and", "with hearing loss and diabetes", "odcd2", "ondontochondrodysplasia", "ondontochondrodysplasia 2", "ondontochondrodysplasia 2 with", "ondontochondrodysplasia 2 with hearing", "ondontochondrodysplasia 2 with hearing loss" ] }, { "record_id": "MONDO:0031010", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0031010", "record_type": "disease", "section": "proteins", "phraselist": [ "q5jra6", "q5jra6 1", "tgo1_human", "np_001287796", "glycoprotein", "mia3", "d320", "kiaa0268", "odcd2", "pro20088", "tango1", "tango", "unq6077" ] }, { "record_id": "MONDO:0031010", "record_type": "disease", "section": "proteins", "phraselist": [ "transport", "and", "golgi", "organization", "protein", "homolog", "transport and", "and golgi", "golgi organization", "organization protein", "protein 1", "1 homolog", "transport and golgi", "and golgi organization", "golgi organization protein", "organization protein 1", "protein 1 homolog", "transport and golgi organization", "and golgi organization protein", "golgi organization protein 1", "organization protein 1 homolog", "transport and golgi organization protein", "and golgi organization protein 1", "golgi organization protein 1 homolog", "c219", "reactive", "peptide", "c219 reactive", "reactive peptide", "c219 reactive peptide", "d320", "mia", "family", "member", "er", "export", "factor", "mia family", "family member", "member 3", "er export", "export factor", "mia family member", "family member 3", "3 er", "er export factor", "mia family member 3", "member 3 er", "3 er export", "family member 3 er", "member 3 er export", "3 er export factor", "melanoma", "inhibitory", "activity", "melanoma inhibitory", "inhibitory activity", "activity protein", "protein 3", "melanoma inhibitory activity", "inhibitory activity protein", "activity protein 3", "melanoma inhibitory activity protein", "inhibitory activity protein 3", "melanoma inhibitory activity protein 3", "tango1", "activity family", "inhibitory activity family", "melanoma inhibitory activity family", "activity family member", "inhibitory activity family member", "activity family member 3", "isoform", "homolog isoform", "isoform 2", "1 homolog isoform", "homolog isoform 2", "protein 1 homolog isoform", "1 homolog isoform 2", "organization protein 1 homolog isoform", "protein 1 homolog isoform 2" ] }, { "record_id": "MONDO:0031011", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0031011", "0031011", "mim:619264", "619264" ] }, { "record_id": "MONDO:0031011", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "dysmorphic", "facies", "and", "variable", "seizures", "neurodevelopmental disorder", "disorder with", "with dysmorphic", "dysmorphic facies", "facies and", "and variable", "variable seizures", "neurodevelopmental disorder with", "disorder with dysmorphic", "with dysmorphic facies", "dysmorphic facies and", "facies and variable", "and variable seizures", "neurodevelopmental disorder with dysmorphic", "disorder with dysmorphic facies", "with dysmorphic facies and", "dysmorphic facies and variable", "facies and variable seizures", "neurodevelopmental disorder with dysmorphic facies", "disorder with dysmorphic facies and", "with dysmorphic facies and variable", "dysmorphic facies and variable seizures", "neddfas" ] }, { "record_id": "MONDO:0031011", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0031011", "record_type": "disease", "section": "proteins", "phraselist": [ "q5ucc4", "q5ucc4 1", "emc10_human", "np_778233", "glycoprotein", "emc10", "c19orf63", "hsm1", "hss1", "inm02", "neddfas", "pro1556" ] }, { "record_id": "MONDO:0031011", "record_type": "disease", "section": "proteins", "phraselist": [ "er", "membrane", "protein", "complex", "subunit", "10", "er membrane", "membrane protein", "protein complex", "complex subunit", "subunit 10", "er membrane protein", "membrane protein complex", "protein complex subunit", "complex subunit 10", "er membrane protein complex", "membrane protein complex subunit", "protein complex subunit 10", "er membrane protein complex subunit", "membrane protein complex subunit 10", "isoform", "precursor", "10 isoform", "isoform 1", "1 precursor", "subunit 10 isoform", "10 isoform 1", "isoform 1 precursor", "complex subunit 10 isoform", "subunit 10 isoform 1", "10 isoform 1 precursor", "protein complex subunit 10 isoform", "complex subunit 10 isoform 1", "subunit 10 isoform 1 precursor", "hematopoietic", "signal", "peptide", "containing", "domain", "hematopoietic signal", "signal peptide", "peptide containing", "containing membrane", "membrane domain", "domain containing", "containing protein", "protein 1", "hematopoietic signal peptide", "signal peptide containing", "peptide containing membrane", "containing membrane domain", "membrane domain containing", "domain containing protein", "containing protein 1", "hematopoietic signal peptide containing", "signal peptide containing membrane", "peptide containing membrane domain", "containing membrane domain containing", "membrane domain containing protein", "domain containing protein 1", "hematopoietic signal peptide containing membrane", "signal peptide containing membrane domain", "peptide containing membrane domain containing", "containing membrane domain containing protein", "membrane domain containing protein 1", "upf0510", "inm02", "upf0510 protein", "protein inm02", "upf0510 protein inm02", "containing 1", "domain containing 1", "membrane domain containing 1", "containing membrane domain containing 1", "secreted", "containing secreted", "secreted 1", "peptide containing secreted", "containing secreted 1", "signal peptide containing secreted", "peptide containing secreted 1", "hematopoietic signal peptide containing secreted", "signal peptide containing secreted 1" ] }, { "record_id": "MONDO:0031040", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0031040", "0031040", "mim:620010", "620010" ] }, { "record_id": "MONDO:0031040", "record_type": "disease", "section": "disease_name", "phraselist": [ "cholestasis", "progressive", "familial", "intrahepatic", "12", "progressive familial", "familial intrahepatic", "cholestasis progressive", "progressive familial intrahepatic", "intrahepatic 12", "cholestasis progressive familial", "familial intrahepatic 12", "cholestasis progressive familial intrahepatic", "progressive familial intrahepatic 12", "pfic12", "isolated", "low", "ggt", "isolated low", "low ggt", "cholestasis isolated", "isolated low ggt", "cholestasis isolated low", "cholestasis isolated low ggt" ] }, { "record_id": "MONDO:0031040", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0031040", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h267", "q9h267 1", "vp33b_human", "np_001276078", "glycoprotein", "vps33b", "kdidar", "pfic12" ] }, { "record_id": "MONDO:0031040", "record_type": "disease", "section": "proteins", "phraselist": [ "vacuolar", "protein", "sorting", "associated", "33b", "vacuolar protein", "protein sorting", "sorting associated", "associated protein", "protein 33b", "vacuolar protein sorting", "protein sorting associated", "sorting associated protein", "associated protein 33b", "vacuolar protein sorting associated", "protein sorting associated protein", "sorting associated protein 33b", "vacuolar protein sorting associated protein", "protein sorting associated protein 33b", "hvps33b", "33", "homolog", "sorting 33", "33 homolog", "homolog b", "protein sorting 33", "sorting 33 homolog", "33 homolog b", "vacuolar protein sorting 33", "protein sorting 33 homolog", "sorting 33 homolog b", "vacuolar protein sorting 33 homolog", "protein sorting 33 homolog b", "like", "33 like", "like protein", "protein b", "sorting 33 like", "33 like protein", "like protein b", "protein sorting 33 like", "sorting 33 like protein", "33 like protein b", "vacuolar protein sorting 33 like", "protein sorting 33 like protein", "sorting 33 like protein b", "isoform", "33b isoform", "isoform 3", "protein 33b isoform", "33b isoform 3", "associated protein 33b isoform", "protein 33b isoform 3", "sorting associated protein 33b isoform", "associated protein 33b isoform 3" ] }, { "record_id": "MONDO:0031045", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0031045", "0031045", "mim:620019", "620019" ] }, { "record_id": "MONDO:0031045", "record_type": "disease", "section": "disease_name", "phraselist": [ "arthrogryposis", "distal", "iia", "11", "iia 11", "arthrogryposis distal", "distal iia", "distal iia 11", "arthrogryposis distal iia", "da11", "distal 11", "arthrogryposis distal 11" ] }, { "record_id": "MONDO:0031045", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0031045", "record_type": "disease", "section": "proteins", "phraselist": [ "p08581", "p08581 1", "met_human", "np_000236", "glycoprotein", "met", "auts9", "da11", "dfnb97", "hgfr", "rccp2", "c met" ] }, { "record_id": "MONDO:0031045", "record_type": "disease", "section": "proteins", "phraselist": [ "hepatocyte", "growth", "factor", "receptor", "hepatocyte growth", "growth factor", "factor receptor", "hepatocyte growth factor", "growth factor receptor", "hepatocyte growth factor receptor", "2.7.10.1", "hgf", "hgf receptor", "hgf/sf", "hgf/sf receptor", "proto", "oncogene", "met", "proto oncogene", "oncogene c", "c met", "proto oncogene c", "oncogene c met", "proto oncogene c met", "sf", "sf receptor", "scatter", "scatter factor", "scatter factor receptor", "tyrosine", "protein", "kinase", "tyrosine protein", "protein kinase", "kinase met", "tyrosine protein kinase", "protein kinase met", "tyrosine protein kinase met", "isoform", "preproprotein", "receptor isoform", "isoform b", "b preproprotein", "factor receptor isoform", "receptor isoform b", "isoform b preproprotein", "growth factor receptor isoform", "factor receptor isoform b", "receptor isoform b preproprotein", "hepatocyte growth factor receptor isoform", "growth factor receptor isoform b", "factor receptor isoform b preproprotein" ] }, { "record_id": "MONDO:0031047", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0031047", "0031047", "mim:620022", "620022" ] }, { "record_id": "MONDO:0031047", "record_type": "disease", "section": "disease_name", "phraselist": [ "stickler", "syndrome", "type", "stickler syndrome", "type 6", "syndrome type", "stickler syndrome type", "syndrome type 6", "stickler syndrome type 6", "stl6", "vi", "type vi", "syndrome type vi", "stickler syndrome type vi", "syndrome 6", "stickler syndrome 6" ] }, { "record_id": "MONDO:0031047", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0031047", "record_type": "disease", "section": "proteins", "phraselist": [ "q14050", "q14050 1", "co9a3_human", "np_001844", "glycoprotein", "col9a3", "dj885l7.4.1", "edm3", "idd", "med", "stl6" ] }, { "record_id": "MONDO:0031047", "record_type": "disease", "section": "proteins", "phraselist": [ "collagen", "alpha", "ix", "chain", "collagen alpha", "alpha 3", "3 ix", "collagen alpha 3", "alpha 3 ix", "ix chain", "collagen alpha 3 ix", "3 ix chain", "alpha 3 ix chain", "polypeptide", "collagen ix", "3 polypeptide", "ix alpha", "alpha 3 polypeptide", "collagen ix alpha", "ix alpha 3", "collagen ix alpha 3", "ix alpha 3 polypeptide", "precursor", "chain precursor", "ix chain precursor", "3 ix chain precursor", "type", "proteoglycan", "collagen type", "type ix", "ix proteoglycan", "collagen type ix", "type ix proteoglycan", "collagen type ix proteoglycan", "type ix alpha", "type ix alpha 3" ] }, { "record_id": "MONDO:0031054", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0031054", "0031054", "mim:620032", "620032" ] }, { "record_id": "MONDO:0031054", "record_type": "disease", "section": "disease_name", "phraselist": [ "ciliary", "dyskinesia", "primary", "48", "without", "situs", "inversus", "ciliary dyskinesia", "without situs", "situs inversus", "dyskinesia primary", "primary 48", "48 without", "without situs inversus", "ciliary dyskinesia primary", "48 without situs", "dyskinesia primary 48", "primary 48 without", "48 without situs inversus", "cild48" ] }, { "record_id": "MONDO:0031054", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0031054", "record_type": "disease", "section": "proteins", "phraselist": [ "p56597", "p56597 1", "ndk5_human", "np_003542", "nme5", "cild48", "ndk5", "nm23", "h5", "nm23 h5", "nm23h5", "rsph23" ] }, { "record_id": "MONDO:0031054", "record_type": "disease", "section": "proteins", "phraselist": [ "nucleoside", "diphosphate", "kinase", "nucleoside diphosphate", "diphosphate kinase", "kinase 5", "nucleoside diphosphate kinase", "diphosphate kinase 5", "nucleoside diphosphate kinase 5", "3'", "5'", "exonuclease", "nme5", "3' 5'", "5' exonuclease", "exonuclease nme5", "3' 5' exonuclease", "5' exonuclease nme5", "3' 5' exonuclease nme5", "3.1.11.", "ipia", "beta", "ipia beta", "inhibitor", "of", "p53", "induced", "apoptosis", "inhibitor of", "of p53", "p53 induced", "induced apoptosis", "apoptosis beta", "inhibitor of p53", "of p53 induced", "p53 induced apoptosis", "induced apoptosis beta", "inhibitor of p53 induced", "of p53 induced apoptosis", "p53 induced apoptosis beta", "inhibitor of p53 induced apoptosis", "of p53 induced apoptosis beta", "ndk", "ndk h", "h 5", "ndk h 5", "ndk5", "ndp", "homolog", "ndp kinase", "kinase homolog", "homolog 5", "ndp kinase homolog", "kinase homolog 5", "ndp kinase homolog 5", "putative", "dna", "putative 3'", "5' dna", "dna exonuclease", "exonuclease ndk5", "putative 3' 5'", "3' 5' dna", "5' dna exonuclease", "dna exonuclease ndk5", "putative 3' 5' dna", "3' 5' dna exonuclease", "5' dna exonuclease ndk5", "putative 3' 5' dna exonuclease", "3' 5' dna exonuclease ndk5", "radial", "spoke", "head", "protein", "23", "radial spoke", "spoke head", "head protein", "protein 23", "23 homolog", "radial spoke head", "spoke head protein", "head protein 23", "protein 23 homolog", "radial spoke head protein", "spoke head protein 23", "head protein 23 homolog", "radial spoke head protein 23", "spoke head protein 23 homolog", "testis", "specific", "nm23", "testis specific", "specific nm23", "nm23 homolog", "testis specific nm23", "specific nm23 homolog", "testis specific nm23 homolog", "h5", "nm23 h5", "non", "metastatic", "cells", "expressed", "in", "non metastatic", "metastatic cells", "cells 5", "5 protein", "protein expressed", "expressed in", "non metastatic cells", "metastatic cells 5", "cells 5 protein", "5 protein expressed", "protein expressed in", "non metastatic cells 5", "metastatic cells 5 protein", "cells 5 protein expressed", "5 protein expressed in", "non metastatic cells 5 protein", "metastatic cells 5 protein expressed", "cells 5 protein expressed in", "in nucleoside", "expressed in nucleoside", "in nucleoside diphosphate", "protein expressed in nucleoside", "expressed in nucleoside diphosphate", "in nucleoside diphosphate kinase", "diphosphate kinase homolog", "nucleoside diphosphate kinase homolog", "diphosphate kinase homolog 5", "nucleoside diphosphate kinase homolog 5", "spoke 23", "radial spoke 23", "spoke 23 homolog", "radial spoke 23 homolog" ] }, { "record_id": "MONDO:0031068", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0031068", "0031068", "mim:620068", "620068" ] }, { "record_id": "MONDO:0031068", "record_type": "disease", "section": "disease_name", "phraselist": [ "charcot", "marie", "tooth", "disease", "axonal", "iia", "2ii", "charcot marie", "marie tooth", "tooth disease", "iia 2ii", "charcot marie tooth", "marie tooth disease", "disease axonal", "axonal iia", "charcot marie tooth disease", "tooth disease axonal", "axonal iia 2ii", "marie tooth disease axonal", "disease axonal iia", "cmt2ii", "neuropathy", "tooth neuropathy", "marie tooth neuropathy", "neuropathy iia", "charcot marie tooth neuropathy", "tooth neuropathy iia", "neuropathy iia 2ii", "marie tooth neuropathy iia", "tooth neuropathy iia 2ii", "type", "type 2ii", "axonal type", "axonal type 2ii", "disease axonal type" ] }, { "record_id": "MONDO:0031068", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0031068", "record_type": "disease", "section": "proteins", "phraselist": [ "q9uhw9", "q9uhw9 1", "s12a6_human", "np_001035959", "glycoprotein", "slc12a6", "accpn", "cmt2ii", "kcc3a", "kcc3b", "kcc3" ] }, { "record_id": "MONDO:0031068", "record_type": "disease", "section": "proteins", "phraselist": [ "solute", "carrier", "family", "12", "member", "solute carrier", "carrier family", "family 12", "12 member", "member 6", "solute carrier family", "carrier family 12", "family 12 member", "12 member 6", "solute carrier family 12", "carrier family 12 member", "family 12 member 6", "solute carrier family 12 member", "carrier family 12 member 6", "electroneutral", "potassium", "chloride", "cotransporter", "electroneutral potassium", "potassium chloride", "chloride cotransporter", "cotransporter 3", "electroneutral potassium chloride", "potassium chloride cotransporter", "chloride cotransporter 3", "electroneutral potassium chloride cotransporter", "potassium chloride cotransporter 3", "electroneutral potassium chloride cotransporter 3", "cl", "k cl", "cl cotransporter", "k cl cotransporter", "cl cotransporter 3", "k cl cotransporter 3", "kcc3a", "s3", "cotransporter kcc3a", "kcc3a s3", "chloride cotransporter kcc3a", "cotransporter kcc3a s3", "potassium chloride cotransporter kcc3a", "chloride cotransporter kcc3a s3", "potassium chloride cotransporter kcc3a s3", "transporter", "3a", "chloride transporter", "transporter 3a", "potassium chloride transporter", "chloride transporter 3a", "potassium chloride transporter 3a", "3b", "transporter 3b", "chloride transporter 3b", "potassium chloride transporter 3b", "potassium/chloride", "potassium/chloride transporter", "12 potassium/chloride", "family 12 potassium/chloride", "12 potassium/chloride transporter", "transporter member", "carrier family 12 potassium/chloride", "family 12 potassium/chloride transporter", "potassium/chloride transporter member", "transporter member 6", "transporters", "potassium/chloride transporters", "12 potassium/chloride transporters", "transporters member", "family 12 potassium/chloride transporters", "potassium/chloride transporters member", "transporters member 6", "isoform", "6 isoform", "isoform c", "member 6 isoform", "6 isoform c", "12 member 6 isoform", "member 6 isoform c", "family 12 member 6 isoform", "12 member 6 isoform c" ] }, { "record_id": "MONDO:0031071", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0031071", "0031071", "mim:620072", "620072" ] }, { "record_id": "MONDO:0031071", "record_type": "disease", "section": "disease_name", "phraselist": [ "diamond", "blackfan", "anemia", "21", "diamond blackfan", "blackfan anemia", "anemia 21", "diamond blackfan anemia", "blackfan anemia 21", "diamond blackfan anemia 21", "dba21", "anaemia", "blackfan anaemia", "anaemia 21", "diamond blackfan anaemia", "blackfan anaemia 21", "diamond blackfan anaemia 21" ] }, { "record_id": "MONDO:0031071", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0031071", "record_type": "disease", "section": "proteins", "phraselist": [ "q7z4q2", "q7z4q2 1", "heat3_human", "np_891552", "glycoprotein", "heatr3", "dba21", "syo1", "hssyo1" ] }, { "record_id": "MONDO:0031071", "record_type": "disease", "section": "proteins", "phraselist": [ "heat", "repeat", "containing", "protein", "heat repeat", "repeat containing", "containing protein", "protein 3", "heat repeat containing", "repeat containing protein", "containing protein 3", "heat repeat containing protein", "repeat containing protein 3", "heat repeat containing protein 3", "isoform", "3 isoform", "isoform a", "protein 3 isoform", "3 isoform a", "containing protein 3 isoform", "protein 3 isoform a", "repeat containing protein 3 isoform", "containing protein 3 isoform a", "symportin", "syo1", "symportin syo1", "hssyo1", "symportin 1" ] }, { "record_id": "MONDO:0031481", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0031481", "0031481", "mim:614231", "614231" ] }, { "record_id": "MONDO:0031481", "record_type": "disease", "section": "disease_name", "phraselist": [ "microcephaly", "epilepsy", "and", "diabetes", "syndrome", "and diabetes", "diabetes syndrome", "syndrome 1", "microcephaly epilepsy", "epilepsy and", "and diabetes syndrome", "diabetes syndrome 1", "epilepsy and diabetes", "and diabetes syndrome 1", "microcephaly epilepsy and", "epilepsy and diabetes syndrome", "meds1", "primary", "permanent", "neonatal", "primary microcephaly", "epilepsy permanent", "permanent neonatal", "neonatal diabetes", "primary microcephaly epilepsy", "microcephaly epilepsy permanent", "epilepsy permanent neonatal", "permanent neonatal diabetes", "neonatal diabetes syndrome", "primary microcephaly epilepsy permanent", "microcephaly epilepsy permanent neonatal", "epilepsy permanent neonatal diabetes", "permanent neonatal diabetes syndrome", "primary microcephaly epilepsy permanent neonatal", "microcephaly epilepsy permanent neonatal diabetes", "epilepsy permanent neonatal diabetes syndrome" ] }, { "record_id": "MONDO:0031481", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0031481", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y5u9", "q9y5u9 1", "ir3ip_human", "np_057181", "ier3ip1", "hspc039", "meds", "pro2309" ] }, { "record_id": "MONDO:0031481", "record_type": "disease", "section": "proteins", "phraselist": [ "immediate", "early", "response", "interacting", "protein", "immediate early", "early response", "response 3", "3 interacting", "interacting protein", "protein 1", "immediate early response", "early response 3", "response 3 interacting", "3 interacting protein", "interacting protein 1", "immediate early response 3", "early response 3 interacting", "response 3 interacting protein", "3 interacting protein 1", "immediate early response 3 interacting", "early response 3 interacting protein", "response 3 interacting protein 1" ] }, { "record_id": "MONDO:0032564", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032564", "0032564", "mim:618154", "618154" ] }, { "record_id": "MONDO:0032564", "record_type": "disease", "section": "disease_name", "phraselist": [ "hennekam", "lymphangiectasia", "lymphedema", "syndrome", "hennekam lymphangiectasia", "lymphangiectasia lymphedema", "lymphedema syndrome", "syndrome 3", "hennekam lymphangiectasia lymphedema", "lymphangiectasia lymphedema syndrome", "lymphedema syndrome 3", "hennekam lymphangiectasia lymphedema syndrome", "lymphangiectasia lymphedema syndrome 3", "hennekam lymphangiectasia lymphedema syndrome 3", "hklls3" ] }, { "record_id": "MONDO:0032564", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032564", "record_type": "disease", "section": "proteins", "phraselist": [ "o15072", "o15072 1", "ats3_human", "np_055058", "glycoprotein", "adamts3", "adamts", "adamts 4", "hklls3", "kiaa0366" ] }, { "record_id": "MONDO:0032564", "record_type": "disease", "section": "proteins", "phraselist": [ "disintegrin", "and", "metalloproteinase", "with", "thrombospondin", "motifs", "a disintegrin", "disintegrin and", "and metalloproteinase", "metalloproteinase with", "with thrombospondin", "thrombospondin motifs", "motifs 3", "a disintegrin and", "disintegrin and metalloproteinase", "and metalloproteinase with", "metalloproteinase with thrombospondin", "with thrombospondin motifs", "thrombospondin motifs 3", "a disintegrin and metalloproteinase", "disintegrin and metalloproteinase with", "and metalloproteinase with thrombospondin", "metalloproteinase with thrombospondin motifs", "with thrombospondin motifs 3", "a disintegrin and metalloproteinase with", "disintegrin and metalloproteinase with thrombospondin", "and metalloproteinase with thrombospondin motifs", "metalloproteinase with thrombospondin motifs 3", "3.4.24.", "preproprotein", "3 preproprotein", "motifs 3 preproprotein", "thrombospondin motifs 3 preproprotein", "with thrombospondin motifs 3 preproprotein", "adam", "ts", "adam ts", "ts 3", "adam ts 3", "ts3", "adam ts3", "adamts", "adamts 3", "pc", "ii", "np", "pc ii", "ii np", "pc ii np", "procollagen", "proteinase", "procollagen ii", "ii n", "n proteinase", "procollagen ii n", "ii n proteinase", "procollagen ii n proteinase", "amino", "propeptide", "processing", "enzyme", "ii amino", "amino propeptide", "propeptide processing", "processing enzyme", "procollagen ii amino", "ii amino propeptide", "amino propeptide processing", "propeptide processing enzyme", "procollagen ii amino propeptide", "ii amino propeptide processing", "amino propeptide processing enzyme", "procollagen ii amino propeptide processing", "ii amino propeptide processing enzyme", "like", "metalloprotease", "reprolysin", "type", "motif", "disintegrin like", "like and", "and metalloprotease", "reprolysin type", "thrombospondin type", "type 1", "1 motif", "a disintegrin like", "disintegrin like and", "like and metalloprotease", "metalloprotease reprolysin", "type with", "with thrombospondin type", "thrombospondin type 1", "type 1 motif", "motif 3", "a disintegrin like and", "disintegrin like and metalloprotease", "and metalloprotease reprolysin", "metalloprotease reprolysin type", "reprolysin type with", "type with thrombospondin", "with thrombospondin type 1", "thrombospondin type 1 motif", "1 motif 3", "a disintegrin like and metalloprotease", "like and metalloprotease reprolysin", "and metalloprotease reprolysin type", "reprolysin type with thrombospondin", "type with thrombospondin type", "with thrombospondin type 1 motif", "type 1 motif 3", "zinc", "metalloendopeptidase", "zinc metalloendopeptidase" ] }, { "record_id": "MONDO:0032565", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032565", "0032565", "mim:618155", "618155" ] }, { "record_id": "MONDO:0032565", "record_type": "disease", "section": "disease_name", "phraselist": [ "ophthalmoplegia", "external", "with", "rib", "and", "vertebral", "anomalies", "with rib", "rib and", "and vertebral", "vertebral anomalies", "ophthalmoplegia external", "external with", "with rib and", "rib and vertebral", "and vertebral anomalies", "external with rib", "with rib and vertebral", "rib and vertebral anomalies", "ophthalmoplegia external with", "external with rib and", "with rib and vertebral anomalies", "eorva" ] }, { "record_id": "MONDO:0032565", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032565", "record_type": "disease", "section": "proteins", "phraselist": [ "p13349", "p13349 1", "myf5_human", "np_005584", "glycoprotein", "myf5", "bhlhc2", "eorva" ] }, { "record_id": "MONDO:0032565", "record_type": "disease", "section": "proteins", "phraselist": [ "myogenic", "factor", "myogenic factor", "factor 5", "myogenic factor 5", "class", "basic", "helix", "loop", "protein", "class c", "c basic", "basic helix", "helix loop", "loop helix", "helix protein", "protein 2", "class c basic", "c basic helix", "basic helix loop", "helix loop helix", "loop helix protein", "helix protein 2", "class c basic helix", "c basic helix loop", "basic helix loop helix", "helix loop helix protein", "loop helix protein 2", "class c basic helix loop", "c basic helix loop helix", "basic helix loop helix protein", "helix loop helix protein 2", "myf", "myf 5", "bhlhc2" ] }, { "record_id": "MONDO:0032566", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032566", "0032566", "mim:618156", "618156" ] }, { "record_id": "MONDO:0032566", "record_type": "disease", "section": "disease_name", "phraselist": [ "squalene", "synthase", "deficiency", "squalene synthase", "synthase deficiency", "squalene synthase deficiency", "sqsd" ] }, { "record_id": "MONDO:0032566", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032566", "record_type": "disease", "section": "proteins", "phraselist": [ "p37268", "p37268 1", "fdft_human", "np_001274671", "glycoprotein", "fdft1", "dgpt", "erg9", "sqsd", "sqs", "ss" ] }, { "record_id": "MONDO:0032566", "record_type": "disease", "section": "proteins", "phraselist": [ "squalene", "synthase", "squalene synthase", "2.5.1.21", "fpp:fpp", "farnesyltransferase", "fpp:fpp farnesyltransferase", "farnesyl", "diphosphate", "farnesyl diphosphate", "diphosphate farnesyltransferase", "farnesyltransferase 1", "farnesyl diphosphate farnesyltransferase", "diphosphate farnesyltransferase 1", "farnesyl diphosphate farnesyltransferase 1", "sqs", "ss", "presqualene", "di", "presqualene di", "di diphosphate", "diphosphate synthase", "presqualene di diphosphate", "di diphosphate synthase", "presqualene di diphosphate synthase", "isoform", "synthase isoform", "isoform 1", "squalene synthase isoform", "synthase isoform 1", "squalene synthase isoform 1", "synthetase", "squalene synthetase" ] }, { "record_id": "MONDO:0032568", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032568", "0032568", "mim:618158", "618158" ] }, { "record_id": "MONDO:0032568", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "macrocephaly", "seizures", "and", "speech", "delay", "intellectual developmental", "developmental disorder", "disorder with", "with macrocephaly", "and speech", "speech delay", "intellectual developmental disorder", "developmental disorder with", "disorder with macrocephaly", "macrocephaly seizures", "seizures and", "and speech delay", "intellectual developmental disorder with", "developmental disorder with macrocephaly", "with macrocephaly seizures", "seizures and speech", "intellectual developmental disorder with macrocephaly", "disorder with macrocephaly seizures", "macrocephaly seizures and", "seizures and speech delay", "iddmssd" ] }, { "record_id": "MONDO:0032568", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032568", "record_type": "disease", "section": "proteins", "phraselist": [ "q13153", "q13153 1", "pak1_human", "np_001122092", "glycoprotein", "pak1", "iddmssd", "pakalpha", "alpha", "pak", "alpha pak", "p65", "p65 pak" ] }, { "record_id": "MONDO:0032568", "record_type": "disease", "section": "proteins", "phraselist": [ "serine/threonine", "protein", "kinase", "pak", "serine/threonine protein", "protein kinase", "kinase pak", "pak 1", "serine/threonine protein kinase", "protein kinase pak", "kinase pak 1", "serine/threonine protein kinase pak", "protein kinase pak 1", "serine/threonine protein kinase pak 1", "2.7.11.1", "alpha", "alpha pak", "p21", "cdc42/rac", "activated", "p21 protein", "activated kinase", "kinase 1", "protein cdc42/rac", "cdc42/rac activated", "activated kinase 1", "p21 protein cdc42/rac", "cdc42/rac activated kinase", "protein cdc42/rac activated", "cdc42/rac activated kinase 1", "p21 activated", "p21 activated kinase", "p21 activated kinase 1", "p21/cdc42/rac1", "ste20", "homolog", "yeast", "p21/cdc42/rac1 activated", "ste20 homolog", "p21/cdc42/rac1 activated kinase", "1 ste20", "homolog yeast", "p21/cdc42/rac1 activated kinase 1", "kinase 1 ste20", "1 ste20 homolog", "ste20 homolog yeast", "activated kinase 1 ste20", "kinase 1 ste20 homolog", "related", "yeast ste20", "ste20 related", "1 yeast", "yeast ste20 related", "kinase 1 yeast", "1 yeast ste20", "activated kinase 1 yeast", "kinase 1 yeast ste20", "1 yeast ste20 related", "p65", "p65 pak", "isoform", "1 isoform", "isoform 1", "pak 1 isoform", "1 isoform 1", "kinase pak 1 isoform", "pak 1 isoform 1", "protein kinase pak 1 isoform", "kinase pak 1 isoform 1" ] }, { "record_id": "MONDO:0032570", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032570", "0032570", "mim:618161", "618161" ] }, { "record_id": "MONDO:0032570", "record_type": "disease", "section": "disease_name", "phraselist": [ "joubert", "syndrome", "35", "joubert syndrome", "syndrome 35", "joubert syndrome 35", "jbts35" ] }, { "record_id": "MONDO:0032570", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032570", "record_type": "disease", "section": "proteins", "phraselist": [ "p36405", "p36405 1", "arl3_human", "np_004302", "glycoprotein", "arl3", "arfl3", "jbts35", "rp83" ] }, { "record_id": "MONDO:0032570", "record_type": "disease", "section": "proteins", "phraselist": [ "adp", "ribosylation", "factor", "like", "protein", "adp ribosylation", "ribosylation factor", "factor like", "like protein", "protein 3", "adp ribosylation factor", "ribosylation factor like", "factor like protein", "like protein 3", "adp ribosylation factor like", "ribosylation factor like protein", "factor like protein 3", "adp ribosylation factor like protein", "ribosylation factor like protein 3", "gtpase", "like gtpase", "gtpase 3", "factor like gtpase", "like gtpase 3", "ribosylation factor like gtpase", "factor like gtpase 3", "adp ribosylation factor like gtpase", "ribosylation factor like gtpase 3", "like 3", "factor like 3", "ribosylation factor like 3", "adp ribosylation factor like 3", "arf", "arf like", "arf like 3" ] }, { "record_id": "MONDO:0032571", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032571", "0032571", "mim:618162", "618162" ] }, { "record_id": "MONDO:0032571", "record_type": "disease", "section": "disease_name", "phraselist": [ "spondyloepimetaphyseal", "dysplasia", "krakow", "type", "spondyloepimetaphyseal dysplasia", "krakow type", "dysplasia krakow", "spondyloepimetaphyseal dysplasia krakow", "dysplasia krakow type", "spondyloepimetaphyseal dysplasia krakow type", "semdk" ] }, { "record_id": "MONDO:0032571", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032571", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y2k2", "q9y2k2 5", "sik3_human", "np_001268678", "glycoprotein", "sik3", "kiaa0999", "l19", "qsk", "semdk", "sik", "sik 3" ] }, { "record_id": "MONDO:0032571", "record_type": "disease", "section": "proteins", "phraselist": [ "serine/threonine", "protein", "kinase", "sik3", "serine/threonine protein", "protein kinase", "kinase sik3", "serine/threonine protein kinase", "protein kinase sik3", "serine/threonine protein kinase sik3", "2.7.11.1", "sik", "sik 3", "salt", "inducible", "salt inducible", "inducible kinase", "kinase 3", "salt inducible kinase", "inducible kinase 3", "salt inducible kinase 3", "qsk", "kinase qsk", "protein kinase qsk", "serine/threonine protein kinase qsk", "isoform", "sik3 isoform", "isoform 3", "kinase sik3 isoform", "sik3 isoform 3", "protein kinase sik3 isoform", "kinase sik3 isoform 3", "serine/threonine protein kinase sik3 isoform", "protein kinase sik3 isoform 3" ] }, { "record_id": "MONDO:0032572", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032572", "0032572", "mim:618164", "618164" ] }, { "record_id": "MONDO:0032572", "record_type": "disease", "section": "disease_name", "phraselist": [ "cardiac", "facial", "and", "digital", "anomalies", "with", "developmental", "delay", "and digital", "digital anomalies", "anomalies with", "with developmental", "developmental delay", "cardiac facial", "facial and", "and digital anomalies", "digital anomalies with", "anomalies with developmental", "with developmental delay", "facial and digital", "and digital anomalies with", "digital anomalies with developmental", "anomalies with developmental delay", "cardiac facial and", "facial and digital anomalies", "and digital anomalies with developmental", "digital anomalies with developmental delay", "cafdadd", "traf7", "associated", "heart", "defect", "dysmorphism", "motor", "speech", "syndrome", "traf7 associated", "associated heart", "heart defect", "defect digital", "anomalies facial", "facial dysmorphism", "dysmorphism motor", "motor and", "and speech", "speech delay", "delay syndrome", "traf7 associated heart", "associated heart defect", "heart defect digital", "defect digital anomalies", "digital anomalies facial", "anomalies facial dysmorphism", "facial dysmorphism motor", "dysmorphism motor and", "motor and speech", "and speech delay", "speech delay syndrome", "traf7 associated heart defect", "associated heart defect digital", "heart defect digital anomalies", "defect digital anomalies facial", "digital anomalies facial dysmorphism", "anomalies facial dysmorphism motor", "facial dysmorphism motor and", "dysmorphism motor and speech", "motor and speech delay", "and speech delay syndrome", "traf7 associated heart defect digital", "associated heart defect digital anomalies", "heart defect digital anomalies facial", "defect digital anomalies facial dysmorphism", "digital anomalies facial dysmorphism motor", "anomalies facial dysmorphism motor and", "facial dysmorphism motor and speech", "dysmorphism motor and speech delay", "motor and speech delay syndrome" ] }, { "record_id": "MONDO:0032572", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032572", "record_type": "disease", "section": "proteins", "phraselist": [ "q6q0c0", "q6q0c0 1", "traf7_human", "np_115647", "glycoprotein", "traf7", "cafdadd", "rfwd1", "rnf119" ] }, { "record_id": "MONDO:0032572", "record_type": "disease", "section": "proteins", "phraselist": [ "e3", "ubiquitin", "protein", "ligase", "traf7", "e3 ubiquitin", "ubiquitin protein", "protein ligase", "ligase traf7", "e3 ubiquitin protein", "ubiquitin protein ligase", "protein ligase traf7", "e3 ubiquitin protein ligase", "ubiquitin protein ligase traf7", "e3 ubiquitin protein ligase traf7", "2.3.2.", "2.3.2.27", "ring", "finger", "and", "wd", "repeat", "containing", "ring finger", "finger and", "and wd", "wd repeat", "repeat containing", "containing protein", "protein 1", "ring finger and", "finger and wd", "and wd repeat", "wd repeat containing", "repeat containing protein", "containing protein 1", "ring finger and wd", "finger and wd repeat", "and wd repeat containing", "wd repeat containing protein", "repeat containing protein 1", "ring finger and wd repeat", "finger and wd repeat containing", "and wd repeat containing protein", "wd repeat containing protein 1", "119", "finger protein", "protein 119", "ring finger protein", "finger protein 119", "ring finger protein 119", "type", "transferase", "ring type", "type e3", "ubiquitin transferase", "transferase traf7", "ring type e3", "type e3 ubiquitin", "e3 ubiquitin transferase", "ubiquitin transferase traf7", "ring type e3 ubiquitin", "type e3 ubiquitin transferase", "e3 ubiquitin transferase traf7", "ring type e3 ubiquitin transferase", "type e3 ubiquitin transferase traf7", "tnf", "receptor", "associated", "factor", "tnf receptor", "receptor associated", "associated factor", "factor 7", "tnf receptor associated", "receptor associated factor", "associated factor 7", "7 e3", "tnf receptor associated factor", "receptor associated factor 7", "factor 7 e3", "7 e3 ubiquitin", "tnf receptor associated factor 7", "associated factor 7 e3", "factor 7 e3 ubiquitin", "7 e3 ubiquitin protein", "domain", "repeat domain", "domain 1", "wd repeat domain", "repeat domain 1", "and wd repeat domain", "wd repeat domain 1", "finger and wd repeat domain", "and wd repeat domain 1" ] }, { "record_id": "MONDO:0032573", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032573", "0032573", "mim:618165", "618165" ] }, { "record_id": "MONDO:0032573", "record_type": "disease", "section": "disease_name", "phraselist": [ "bone", "marrow", "failure", "syndrome", "bone marrow", "marrow failure", "failure syndrome", "syndrome 5", "bone marrow failure", "marrow failure syndrome", "failure syndrome 5", "bone marrow failure syndrome", "marrow failure syndrome 5", "bone marrow failure syndrome 5", "bmfs5" ] }, { "record_id": "MONDO:0032573", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032573", "record_type": "disease", "section": "proteins", "phraselist": [ "p04637", "p04637 1", "p53_human", "np_000537", "glycoprotein", "tp53", "bcc7", "bmfs5", "lfs1", "p53", "trp53" ] }, { "record_id": "MONDO:0032573", "record_type": "disease", "section": "proteins", "phraselist": [ "cellular", "tumor", "antigen", "p53", "cellular tumor", "tumor antigen", "antigen p53", "cellular tumor antigen", "tumor antigen p53", "cellular tumor antigen p53", "ny", "co", "13", "antigen ny", "ny co", "co 13", "antigen ny co", "ny co 13", "antigen ny co 13", "phosphoprotein", "phosphoprotein p53", "suppressor", "tumor suppressor", "suppressor p53", "tumor suppressor p53", "isoform", "p53 isoform", "isoform a", "antigen p53 isoform", "p53 isoform a", "tumor antigen p53 isoform", "antigen p53 isoform a", "cellular tumor antigen p53 isoform", "tumor antigen p53 isoform a", "mutant", "protein", "53", "mutant tumor", "tumor protein", "protein 53", "mutant tumor protein", "tumor protein 53", "mutant tumor protein 53", "transformation", "related", "transformation related", "related protein", "transformation related protein", "related protein 53", "transformation related protein 53", "supressor", "tumor supressor", "supressor p53", "tumor supressor p53" ] }, { "record_id": "MONDO:0032574", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032574", "0032574", "mim:618167", "618167" ] }, { "record_id": "MONDO:0032574", "record_type": "disease", "section": "disease_name", "phraselist": [ "osteochondrodysplasia", "brachydactyly", "and", "overlapping", "malformed", "digits", "and overlapping", "overlapping malformed", "malformed digits", "osteochondrodysplasia brachydactyly", "brachydactyly and", "and overlapping malformed", "overlapping malformed digits", "brachydactyly and overlapping", "and overlapping malformed digits", "osteochondrodysplasia brachydactyly and", "brachydactyly and overlapping malformed", "ocbmd" ] }, { "record_id": "MONDO:0032574", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032574", "record_type": "disease", "section": "proteins", "phraselist": [ "q9npf2", "q9npf2 1", "chstb_human", "np_001167453", "glycoprotein", "chst11", "c4st", "c4st 1", "c4st1", "hsa269537", "ocbmd" ] }, { "record_id": "MONDO:0032574", "record_type": "disease", "section": "proteins", "phraselist": [ "carbohydrate", "sulfotransferase", "11", "carbohydrate sulfotransferase", "sulfotransferase 11", "carbohydrate sulfotransferase 11", "2.8.2.5", "c4s", "c4s 1", "c4st", "c4st 1", "c4st1", "chondroitin", "chondroitin 4", "4 o", "o sulfotransferase", "sulfotransferase 1", "chondroitin 4 o", "4 o sulfotransferase", "o sulfotransferase 1", "chondroitin 4 o sulfotransferase", "4 o sulfotransferase 1", "chondroitin 4 o sulfotransferase 1", "4 sulfotransferase", "chondroitin 4 sulfotransferase", "4 sulfotransferase 1", "chondroitin 4 sulfotransferase 1", "igh/chst11", "fusion", "igh/chst11 fusion", "carbohydrate chondroitin", "carbohydrate chondroitin 4", "4 sulfotransferase 11", "chondroitin 4 sulfotransferase 11", "isoform", "11 isoform", "isoform 2", "sulfotransferase 11 isoform", "11 isoform 2", "carbohydrate sulfotransferase 11 isoform", "sulfotransferase 11 isoform 2", "carbohydrate sulfotransferase 11 isoform 2" ] }, { "record_id": "MONDO:0032575", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032575", "0032575", "mim:618168", "618168" ] }, { "record_id": "MONDO:0032575", "record_type": "disease", "section": "disease_name", "phraselist": [ "diarrhea", "diarrhea 9", "diar9" ] }, { "record_id": "MONDO:0032575", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032575", "record_type": "disease", "section": "proteins", "phraselist": [ "q93097", "q93097 1", "wnt2b_human", "np_004176", "glycoprotein", "wnt2b", "wnt13" ] }, { "record_id": "MONDO:0032575", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "wnt", "2b", "protein wnt", "wnt 2b", "protein wnt 2b", "13", "wnt 13", "protein wnt 13", "xwnt2", "xenopus", "homolog", "of", "homolog of", "xwnt2 xenopus", "xenopus homolog", "xenopus homolog of", "xwnt2 xenopus homolog", "isoform", "2b1", "2b isoform", "isoform wnt", "wnt 2b1", "wnt 2b isoform", "2b isoform wnt", "isoform wnt 2b1", "protein wnt 2b isoform", "wnt 2b isoform wnt", "2b isoform wnt 2b1", "protein wnt 2b isoform wnt", "wnt 2b isoform wnt 2b1", "wingless", "type", "mmtv", "integration", "site", "family", "member", "wingless type", "type mmtv", "mmtv integration", "integration site", "site family", "member 13", "wingless type mmtv", "type mmtv integration", "mmtv integration site", "integration site family", "family member", "wingless type mmtv integration", "type mmtv integration site", "mmtv integration site family", "site family member", "family member 13", "wingless type mmtv integration site", "type mmtv integration site family", "integration site family member", "site family member 13", "member 2b", "family member 2b", "site family member 2b" ] }, { "record_id": "MONDO:0032579", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032579", "0032579", "mim:618175", "618175" ] }, { "record_id": "MONDO:0032579", "record_type": "disease", "section": "disease_name", "phraselist": [ "warburg", "cinotti", "syndrome", "warburg cinotti", "cinotti syndrome", "warburg cinotti syndrome", "wrcn" ] }, { "record_id": "MONDO:0032579", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032579", "record_type": "disease", "section": "proteins", "phraselist": [ "q16832", "q16832 1", "ddr2_human", "np_001014796", "glycoprotein", "ddr2", "ddr2 n", "mig20a", "ntrkr3", "tkt", "tyro10", "wrcn" ] }, { "record_id": "MONDO:0032579", "record_type": "disease", "section": "proteins", "phraselist": [ "discoidin", "domain", "containing", "receptor", "discoidin domain", "domain containing", "containing receptor", "receptor 2", "discoidin domain containing", "domain containing receptor", "containing receptor 2", "discoidin domain containing receptor", "domain containing receptor 2", "discoidin domain containing receptor 2", "2.7.10.1", "cd167", "antigen", "like", "family", "member", "cd167 antigen", "antigen like", "like family", "family member", "member b", "cd167 antigen like", "antigen like family", "like family member", "family member b", "cd167 antigen like family", "antigen like family member", "like family member b", "cd167 antigen like family member", "antigen like family member b", "domain receptor", "discoidin domain receptor", "domain receptor 2", "discoidin domain receptor 2", "tyrosine", "kinase", "receptor tyrosine", "tyrosine kinase", "kinase 2", "containing receptor tyrosine", "receptor tyrosine kinase", "tyrosine kinase 2", "domain containing receptor tyrosine", "containing receptor tyrosine kinase", "receptor tyrosine kinase 2", "discoidin domain containing receptor tyrosine", "domain containing receptor tyrosine kinase", "containing receptor tyrosine kinase 2", "neurotrophic", "related", "neurotrophic tyrosine", "receptor related", "related 3", "neurotrophic tyrosine kinase", "kinase receptor", "receptor related 3", "tyrosine kinase receptor", "kinase receptor related", "neurotrophic tyrosine kinase receptor", "tyrosine kinase receptor related", "kinase receptor related 3", "protein", "tkt", "receptor protein", "protein tyrosine", "kinase tkt", "receptor protein tyrosine", "protein tyrosine kinase", "tyrosine kinase tkt", "receptor protein tyrosine kinase", "protein tyrosine kinase tkt", "receptor protein tyrosine kinase tkt", "tyro10", "tyrosine protein", "protein kinase", "kinase tyro10", "tyrosine protein kinase", "protein kinase tyro10", "tyrosine protein kinase tyro10", "cell", "migration", "inducing", "20", "cell migration", "migration inducing", "inducing protein", "protein 20", "cell migration inducing", "migration inducing protein", "inducing protein 20", "cell migration inducing protein", "migration inducing protein 20", "cell migration inducing protein 20", "receptor family", "member 2", "domain receptor family", "discoidin domain receptor family", "receptor family member", "family member 2", "domain receptor family member", "receptor family member 2", "precursor", "2 precursor", "receptor 2 precursor", "containing receptor 2 precursor", "domain containing receptor 2 precursor", "hydroxyaryl", "hydroxyaryl protein", "hydroxyaryl protein kinase", "gene", "16", "inducing gene", "gene 16", "16 protein", "migration inducing gene", "inducing gene 16", "gene 16 protein", "migration inducing gene 16", "inducing gene 16 protein", "migration inducing gene 16 protein", "neurotrophic tyrosine kinase receptor related", "tyrosine kinase receptor related 3" ] }, { "record_id": "MONDO:0032586", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032586", "0032586", "mim:618183", "618183" ] }, { "record_id": "MONDO:0032586", "record_type": "disease", "section": "disease_name", "phraselist": [ "diarrhea", "10", "protein", "losing", "enteropathy", "type", "diarrhea 10", "protein losing", "losing enteropathy", "enteropathy type", "10 protein", "protein losing enteropathy", "losing enteropathy type", "diarrhea 10 protein", "10 protein losing", "protein losing enteropathy type", "diarrhea 10 protein losing", "10 protein losing enteropathy", "diar10" ] }, { "record_id": "MONDO:0032586", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032586", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bx97", "q9bx97 1", "plvap_human", "np_112600", "glycoprotein", "plvap", "diar10", "fels", "pv", "pv 1", "pv1", "gp68" ] }, { "record_id": "MONDO:0032586", "record_type": "disease", "section": "proteins", "phraselist": [ "plasmalemma", "vesicle", "associated", "protein", "plasmalemma vesicle", "vesicle associated", "associated protein", "plasmalemma vesicle associated", "vesicle associated protein", "plasmalemma vesicle associated protein", "fenestrated", "endothelial", "linked", "structure", "fenestrated endothelial", "endothelial linked", "linked structure", "structure protein", "fenestrated endothelial linked", "endothelial linked structure", "linked structure protein", "fenestrated endothelial linked structure", "endothelial linked structure protein", "fenestrated endothelial linked structure protein", "pv", "pv 1", "1 protein", "pv 1 protein", "vesicle protein", "protein 1", "plasmalemma vesicle protein", "vesicle protein 1", "plasmalemma vesicle protein 1" ] }, { "record_id": "MONDO:0032591", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032591", "0032591", "mim:618188", "618188" ] }, { "record_id": "MONDO:0032591", "record_type": "disease", "section": "disease_name", "phraselist": [ "hyperparathyroidism", "transient", "neonatal", "transient neonatal", "hyperparathyroidism transient", "hyperparathyroidism transient neonatal", "hrpttn" ] }, { "record_id": "MONDO:0032591", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032591", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h1d0", "q9h1d0 1", "trpv6_human", "np_061116", "glycoprotein", "trpv6", "abp/zf", "cat1", "catl", "ecac2", "hrpttn", "hsa277909", "lp6728", "zfab" ] }, { "record_id": "MONDO:0032591", "record_type": "disease", "section": "proteins", "phraselist": [ "transient", "receptor", "potential", "cation", "channel", "subfamily", "member", "transient receptor", "receptor potential", "potential cation", "cation channel", "channel subfamily", "subfamily v", "v member", "member 6", "transient receptor potential", "receptor potential cation", "potential cation channel", "cation channel subfamily", "channel subfamily v", "subfamily v member", "v member 6", "transient receptor potential cation", "receptor potential cation channel", "potential cation channel subfamily", "cation channel subfamily v", "channel subfamily v member", "subfamily v member 6", "transient receptor potential cation channel", "receptor potential cation channel subfamily", "potential cation channel subfamily v", "cation channel subfamily v member", "channel subfamily v member 6", "alu", "binding", "protein", "with", "zinc", "finger", "domain", "alu binding", "binding protein", "protein with", "with zinc", "zinc finger", "finger domain", "alu binding protein", "binding protein with", "protein with zinc", "with zinc finger", "zinc finger domain", "alu binding protein with", "binding protein with zinc", "protein with zinc finger", "with zinc finger domain", "alu binding protein with zinc", "binding protein with zinc finger", "protein with zinc finger domain", "cat", "cat l", "like", "cat like", "cat1", "calcium", "transport", "calcium transport", "transport protein", "protein 1", "calcium transport protein", "transport protein 1", "calcium transport protein 1", "ecac2", "epithelial", "epithelial calcium", "calcium channel", "channel 2", "epithelial calcium channel", "calcium channel 2", "epithelial calcium channel 2", "trpv6", "transporter", "calcium transporter", "transporter like", "like protein", "calcium transporter like", "transporter like protein", "calcium transporter like protein", "apical", "membrane", "transporter/channel", "epithelial apical", "apical membrane", "membrane calcium", "calcium transporter/channel", "transporter/channel cat1", "epithelial apical membrane", "apical membrane calcium", "membrane calcium transporter/channel", "calcium transporter/channel cat1", "epithelial apical membrane calcium", "apical membrane calcium transporter/channel", "membrane calcium transporter/channel cat1", "epithelial apical membrane calcium transporter/channel", "apical membrane calcium transporter/channel cat1" ] }, { "record_id": "MONDO:0032594", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032594", "0032594", "mim:618195", "618195" ] }, { "record_id": "MONDO:0032594", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "and", "retinitis", "pigmentosa", "iddrp", "intellectual developmental", "developmental disorder", "disorder and", "and retinitis", "retinitis pigmentosa", "intellectual developmental disorder", "developmental disorder and", "disorder and retinitis", "and retinitis pigmentosa", "pigmentosa iddrp", "intellectual developmental disorder and", "developmental disorder and retinitis", "disorder and retinitis pigmentosa", "retinitis pigmentosa iddrp", "intellectual developmental disorder and retinitis", "developmental disorder and retinitis pigmentosa", "and retinitis pigmentosa iddrp" ] }, { "record_id": "MONDO:0032594", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032594", "record_type": "disease", "section": "proteins", "phraselist": [ "q9by12", "q9by12 1", "scape_human", "np_001139395", "glycoprotein", "scaper", "iddrp", "kiaa1454", "mstp063", "znf291", "zfp291" ] }, { "record_id": "MONDO:0032594", "record_type": "disease", "section": "proteins", "phraselist": [ "phase", "cyclin", "associated", "protein", "in", "the", "endoplasmic", "reticulum", "s phase", "phase cyclin", "cyclin a", "a associated", "associated protein", "protein in", "in the", "the endoplasmic", "endoplasmic reticulum", "s phase cyclin", "phase cyclin a", "cyclin a associated", "a associated protein", "associated protein in", "protein in the", "in the endoplasmic", "the endoplasmic reticulum", "s phase cyclin a", "phase cyclin a associated", "cyclin a associated protein", "a associated protein in", "associated protein in the", "protein in the endoplasmic", "in the endoplasmic reticulum", "s phase cyclin a associated", "phase cyclin a associated protein", "cyclin a associated protein in", "a associated protein in the", "associated protein in the endoplasmic", "protein in the endoplasmic reticulum", "er", "the er", "in the er", "protein in the er", "associated protein in the er", "isoform", "reticulum isoform", "isoform b", "endoplasmic reticulum isoform", "reticulum isoform b", "the endoplasmic reticulum isoform", "endoplasmic reticulum isoform b", "in the endoplasmic reticulum isoform", "the endoplasmic reticulum isoform b", "zinc", "finger", "291", "zinc finger", "finger protein", "protein 291", "zinc finger protein", "finger protein 291", "zinc finger protein 291" ] }, { "record_id": "MONDO:0032596", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032596", "0032596", "mim:618197", "618197" ] }, { "record_id": "MONDO:0032596", "record_type": "disease", "section": "disease_name", "phraselist": [ "myasthenic", "syndrome", "congenital", "23", "presynaptic", "myasthenic syndrome", "syndrome congenital", "congenital 23", "23 presynaptic", "myasthenic syndrome congenital", "syndrome congenital 23", "congenital 23 presynaptic", "cms23" ] }, { "record_id": "MONDO:0032596", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032596", "record_type": "disease", "section": "proteins", "phraselist": [ "p53007", "p53007 1", "txtp_human", "np_005975", "glycoprotein", "slc25a1", "cic", "cms23", "ctp", "d2l2ad", "sea", "slc20a3" ] }, { "record_id": "MONDO:0032596", "record_type": "disease", "section": "proteins", "phraselist": [ "tricarboxylate", "transport", "protein", "mitochondrial", "tricarboxylate transport", "transport protein", "tricarboxylate transport protein", "protein mitochondrial", "transport protein mitochondrial", "tricarboxylate transport protein mitochondrial", "cic", "ctp", "citrate", "citrate transport", "citrate transport protein", "carrier", "mitochondrial citrate", "citrate carrier", "mitochondrial citrate carrier", "solute", "family", "25", "member", "solute carrier", "carrier family", "family 25", "25 member", "member 1", "solute carrier family", "carrier family 25", "family 25 member", "25 member 1", "solute carrier family 25", "carrier family 25 member", "family 25 member 1", "solute carrier family 25 member", "carrier family 25 member 1", "tricarboxylate carrier", "carrier protein", "tricarboxylate carrier protein", "isocitrate", "citrate isocitrate", "isocitrate carrier", "citrate isocitrate carrier", "transporter", "citrate transporter", "transporter member", "citrate transporter member", "transporter member 1", "20", "family 20", "member 3", "carrier family 20", "20 mitochondrial", "mitochondrial citrate transporter", "solute carrier family 20", "family 20 mitochondrial", "20 mitochondrial citrate", "carrier family 20 mitochondrial", "family 20 mitochondrial citrate", "20 mitochondrial citrate transporter", "transporter member 3", "mitochondrial carrier", "25 mitochondrial", "family 25 mitochondrial", "25 mitochondrial carrier", "carrier family 25 mitochondrial", "family 25 mitochondrial carrier", "isoform", "precursor", "mitochondrial isoform", "isoform a", "a precursor", "mitochondrial isoform a", "isoform a precursor", "protein mitochondrial isoform", "mitochondrial isoform a precursor", "transport protein mitochondrial isoform", "protein mitochondrial isoform a" ] }, { "record_id": "MONDO:0032597", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032597", "0032597", "mim:618198", "618198" ] }, { "record_id": "MONDO:0032597", "record_type": "disease", "section": "disease_name", "phraselist": [ "myasthenic", "syndrome", "congenital", "24", "presynaptic", "myasthenic syndrome", "syndrome congenital", "congenital 24", "24 presynaptic", "myasthenic syndrome congenital", "syndrome congenital 24", "congenital 24 presynaptic", "cms24" ] }, { "record_id": "MONDO:0032597", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032597", "record_type": "disease", "section": "proteins", "phraselist": [ "b2rty4", "b2rty4 1", "myo9a_human", "np_008832", "glycoprotein", "myo9a", "cms24", "myr7" ] }, { "record_id": "MONDO:0032597", "record_type": "disease", "section": "proteins", "phraselist": [ "unconventional", "myosin", "ixa", "unconventional myosin", "myosin ixa", "unconventional myosin ixa", "9a", "myosin 9a", "unconventional myosin 9a" ] }, { "record_id": "MONDO:0032601", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032601", "0032601", "mim:618213", "618213" ] }, { "record_id": "MONDO:0032601", "record_type": "disease", "section": "disease_name", "phraselist": [ "inflammatory", "bowel", "disease", "immunodeficiency", "and", "encephalopathy", "inflammatory bowel", "bowel disease", "and encephalopathy", "inflammatory bowel disease", "disease immunodeficiency", "immunodeficiency and", "bowel disease immunodeficiency", "immunodeficiency and encephalopathy", "inflammatory bowel disease immunodeficiency", "disease immunodeficiency and", "ibdimde" ] }, { "record_id": "MONDO:0032601", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032601", "record_type": "disease", "section": "proteins", "phraselist": [ "p01137", "p01137 1", "tgfb1_human", "np_000651", "glycoprotein", "tgfb1", "caend1", "ced", "dpd1", "ibdimde", "lap", "tgf", "beta1", "tgf beta1", "tgfb", "tgfbeta" ] }, { "record_id": "MONDO:0032601", "record_type": "disease", "section": "proteins", "phraselist": [ "transforming", "growth", "factor", "beta", "proprotein", "transforming growth", "growth factor", "factor beta", "beta 1", "1 proprotein", "transforming growth factor", "growth factor beta", "factor beta 1", "beta 1 proprotein", "transforming growth factor beta", "growth factor beta 1", "factor beta 1 proprotein", "transforming growth factor beta 1", "growth factor beta 1 proprotein", "tgf", "tgf beta", "tgf beta 1", "latency", "associated", "peptide", "latency associated", "associated peptide", "latency associated peptide", "prepro", "prepro transforming", "prepro transforming growth", "prepro transforming growth factor", "prepro transforming growth factor beta", "preproprotein", "proprotein preproprotein", "1 proprotein preproprotein", "beta 1 proprotein preproprotein", "factor beta 1 proprotein preproprotein", "beta1", "factor beta1", "growth factor beta1", "transforming growth factor beta1" ] }, { "record_id": "MONDO:0032603", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032603", "0032603", "mim:618219", "618219" ] }, { "record_id": "MONDO:0032603", "record_type": "disease", "section": "disease_name", "phraselist": [ "polydactyly", "postaxial", "type", "a9", "type a9", "polydactyly postaxial", "postaxial type", "postaxial type a9", "polydactyly postaxial type", "papa9", "postaxial a9", "polydactyly postaxial a9" ] }, { "record_id": "MONDO:0032603", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032603", "record_type": "disease", "section": "proteins", "phraselist": [ "a1xbs5", "a1xbs5 1", "cbar1_human", "np_001269963", "cibar1", "barmr1", "fam92a1", "fam92a", "papa9" ] }, { "record_id": "MONDO:0032603", "record_type": "disease", "section": "proteins", "phraselist": [ "cby1", "interacting", "bar", "domain", "containing", "protein", "cby1 interacting", "interacting bar", "bar domain", "domain containing", "containing protein", "protein 1", "cby1 interacting bar", "interacting bar domain", "bar domain containing", "domain containing protein", "containing protein 1", "cby1 interacting bar domain", "interacting bar domain containing", "bar domain containing protein", "domain containing protein 1", "cby1 interacting bar domain containing", "interacting bar domain containing protein", "bar domain containing protein 1", "isoform", "1 isoform", "isoform 2", "protein 1 isoform", "1 isoform 2", "containing protein 1 isoform", "protein 1 isoform 2", "domain containing protein 1 isoform", "containing protein 1 isoform 2", "family", "with", "sequence", "similarity", "92", "member", "a1", "family with", "with sequence", "sequence similarity", "similarity 92", "92 member", "member a1", "family with sequence", "with sequence similarity", "sequence similarity 92", "similarity 92 member", "92 member a1", "family with sequence similarity", "with sequence similarity 92", "sequence similarity 92 member", "similarity 92 member a1", "family with sequence similarity 92", "with sequence similarity 92 member", "sequence similarity 92 member a1", "fam92a1", "protein fam92a1" ] }, { "record_id": "MONDO:0032614", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032614", "0032614", "mim:618231", "618231" ] }, { "record_id": "MONDO:0032614", "record_type": "disease", "section": "disease_name", "phraselist": [ "epidermodysplasia", "verruciformis", "susceptibility", "to", "epidermodysplasia verruciformis", "susceptibility to", "verruciformis susceptibility", "to 2", "epidermodysplasia verruciformis susceptibility", "verruciformis susceptibility to", "susceptibility to 2", "epidermodysplasia verruciformis susceptibility to", "verruciformis 2", "epidermodysplasia verruciformis 2", "ev2" ] }, { "record_id": "MONDO:0032614", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032614", "record_type": "disease", "section": "proteins", "phraselist": [ "q8iu68", "q8iu68 1", "tmc8_human", "np_689681", "glycoprotein", "tmc8", "ev2", "ever2", "evin2" ] }, { "record_id": "MONDO:0032614", "record_type": "disease", "section": "proteins", "phraselist": [ "transmembrane", "channel", "like", "protein", "transmembrane channel", "channel like", "like protein", "protein 8", "transmembrane channel like", "channel like protein", "like protein 8", "transmembrane channel like protein", "channel like protein 8", "transmembrane channel like protein 8", "epidermodysplasia", "verruciformis", "epidermodysplasia verruciformis", "verruciformis protein", "protein 2", "epidermodysplasia verruciformis protein", "verruciformis protein 2", "epidermodysplasia verruciformis protein 2", "verruciformis 2", "epidermodysplasia verruciformis 2" ] }, { "record_id": "MONDO:0032642", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032642", "0032642", "mim:618265", "618265" ] }, { "record_id": "MONDO:0032642", "record_type": "disease", "section": "disease_name", "phraselist": [ "arthrogryposis", "cleft", "palate", "craniosynostosis", "and", "impaired", "intellectual", "development", "cleft palate", "and impaired", "impaired intellectual", "intellectual development", "arthrogryposis cleft", "palate craniosynostosis", "craniosynostosis and", "and impaired intellectual", "impaired intellectual development", "arthrogryposis cleft palate", "cleft palate craniosynostosis", "craniosynostosis and impaired", "and impaired intellectual development", "palate craniosynostosis and", "craniosynostosis and impaired intellectual", "acciid" ] }, { "record_id": "MONDO:0032642", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032642", "record_type": "disease", "section": "proteins", "phraselist": [ "q08209", "q08209 1", "pp2ba_human", "np_000935", "glycoprotein", "ppp3ca", "acciid", "calna1", "calna", "caln", "cna1", "cna", "dee91", "iecee1", "iecee", "ppp2b" ] }, { "record_id": "MONDO:0032642", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "phosphatase", "catalytic", "subunit", "alpha", "protein phosphatase", "phosphatase 3", "3 catalytic", "catalytic subunit", "subunit alpha", "protein phosphatase 3", "phosphatase 3 catalytic", "3 catalytic subunit", "catalytic subunit alpha", "protein phosphatase 3 catalytic", "phosphatase 3 catalytic subunit", "3 catalytic subunit alpha", "protein phosphatase 3 catalytic subunit", "phosphatase 3 catalytic subunit alpha", "3.1.3.16", "cam", "prp", "cam prp", "prp catalytic", "cam prp catalytic", "prp catalytic subunit", "cam prp catalytic subunit", "cna", "cna alpha", "calcineurin", "calcineurin a", "a alpha", "calcineurin a alpha", "calmodulin", "dependent", "isoform", "calmodulin dependent", "dependent calcineurin", "a subunit", "alpha isoform", "calmodulin dependent calcineurin", "dependent calcineurin a", "calcineurin a subunit", "a subunit alpha", "subunit alpha isoform", "calmodulin dependent calcineurin a", "dependent calcineurin a subunit", "calcineurin a subunit alpha", "a subunit alpha isoform", "calmodulin dependent calcineurin a subunit", "dependent calcineurin a subunit alpha", "calcineurin a subunit alpha isoform", "serine/threonine", "2b", "serine/threonine protein", "phosphatase 2b", "2b catalytic", "serine/threonine protein phosphatase", "protein phosphatase 2b", "phosphatase 2b catalytic", "2b catalytic subunit", "serine/threonine protein phosphatase 2b", "protein phosphatase 2b catalytic", "phosphatase 2b catalytic subunit", "2b catalytic subunit alpha", "catalytic subunit alpha isoform", "serine/threonine protein phosphatase 2b catalytic", "protein phosphatase 2b catalytic subunit", "phosphatase 2b catalytic subunit alpha", "2b catalytic subunit alpha isoform", "isoform 1", "alpha isoform 1", "subunit alpha isoform 1", "3 catalytic subunit alpha isoform", "catalytic subunit alpha isoform 1", "isozyme", "alpha isozyme", "subunit alpha isozyme", "catalytic subunit alpha isozyme", "3 catalytic subunit alpha isozyme" ] }, { "record_id": "MONDO:0032644", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032644", "0032644", "mim:618267", "618267" ] }, { "record_id": "MONDO:0032644", "record_type": "disease", "section": "disease_name", "phraselist": [ "epidermodysplasia", "verruciformis", "susceptibility", "to", "epidermodysplasia verruciformis", "susceptibility to", "verruciformis susceptibility", "to 3", "epidermodysplasia verruciformis susceptibility", "verruciformis susceptibility to", "susceptibility to 3", "epidermodysplasia verruciformis susceptibility to", "verruciformis 3", "epidermodysplasia verruciformis 3", "ev3" ] }, { "record_id": "MONDO:0032644", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032644", "record_type": "disease", "section": "proteins", "phraselist": [ "q99828", "q99828 1", "cib1_human", "np_001264693", "cib1", "cibp", "cib", "ev3", "kip1", "kip", "prkdcip", "sip2", "28", "sip2 28" ] }, { "record_id": "MONDO:0032644", "record_type": "disease", "section": "proteins", "phraselist": [ "calcium", "and", "integrin", "binding", "protein", "calcium and", "and integrin", "integrin binding", "binding protein", "protein 1", "calcium and integrin", "and integrin binding", "integrin binding protein", "binding protein 1", "calcium and integrin binding", "and integrin binding protein", "integrin binding protein 1", "calcium and integrin binding protein", "and integrin binding protein 1", "cibp", "cib", "calmyrin", "dna", "pk", "interaction", "dna pk", "pk interaction", "interaction protein", "dna pk interaction", "pk interaction protein", "dna pk interaction protein", "pkcs", "interacting", "dna pkcs", "pkcs interacting", "interacting protein", "dna pkcs interacting", "pkcs interacting protein", "dna pkcs interacting protein", "dependent", "kinase", "dna dependent", "dependent protein", "protein kinase", "kinase interacting", "dna dependent protein", "dependent protein kinase", "protein kinase interacting", "kinase interacting protein", "dna dependent protein kinase", "dependent protein kinase interacting", "protein kinase interacting protein", "dna dependent protein kinase interacting", "dependent protein kinase interacting protein", "kip", "sip2", "28", "sip2 28", "snk", "snk interacting", "protein 2", "2 28", "snk interacting protein", "interacting protein 2", "protein 2 28", "snk interacting protein 2", "interacting protein 2 28", "snk interacting protein 2 28", "binding 1", "integrin binding 1", "1 calmyrin", "and integrin binding 1", "binding 1 calmyrin", "calcium and integrin binding 1", "integrin binding 1 calmyrin", "isoform", "1 isoform", "isoform a", "protein 1 isoform", "1 isoform a", "binding protein 1 isoform", "protein 1 isoform a", "integrin binding protein 1 isoform", "binding protein 1 isoform a", "testicular", "secretory", "li", "testicular secretory", "secretory protein", "protein li", "li 9", "testicular secretory protein", "secretory protein li", "protein li 9", "testicular secretory protein li", "secretory protein li 9", "testicular secretory protein li 9" ] }, { "record_id": "MONDO:0032645", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032645", "0032645", "mim:618268", "618268" ] }, { "record_id": "MONDO:0032645", "record_type": "disease", "section": "disease_name", "phraselist": [ "trichohepatoneurodevelopmental", "syndrome", "trichohepatoneurodevelopmental syndrome", "thns" ] }, { "record_id": "MONDO:0032645", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032645", "record_type": "disease", "section": "proteins", "phraselist": [ "q96a33", "q96a33 1", "ccd47_human", "np_064583", "glycoprotein", "ccdc47", "gk001", "mstp041", "psec0077", "thns" ] }, { "record_id": "MONDO:0032645", "record_type": "disease", "section": "proteins", "phraselist": [ "pat", "complex", "subunit", "ccdc47", "pat complex", "complex subunit", "subunit ccdc47", "pat complex subunit", "complex subunit ccdc47", "pat complex subunit ccdc47", "calumin", "coiled", "coil", "domain", "containing", "protein", "47", "coiled coil", "coil domain", "domain containing", "containing protein", "protein 47", "coiled coil domain", "coil domain containing", "domain containing protein", "containing protein 47", "coiled coil domain containing", "coil domain containing protein", "domain containing protein 47", "coiled coil domain containing protein", "coil domain containing protein 47", "isoform", "precursor", "ccdc47 isoform", "isoform 1", "1 precursor", "subunit ccdc47 isoform", "ccdc47 isoform 1", "isoform 1 precursor", "complex subunit ccdc47 isoform", "subunit ccdc47 isoform 1", "ccdc47 isoform 1 precursor", "pat complex subunit ccdc47 isoform", "complex subunit ccdc47 isoform 1", "subunit ccdc47 isoform 1 precursor" ] }, { "record_id": "MONDO:0032646", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032646", "0032646", "mim:618270", "618270" ] }, { "record_id": "MONDO:0032646", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "anomalies", "of", "kidney", "and", "urinary", "tract", "congenital anomalies", "anomalies of", "of kidney", "kidney and", "and urinary", "urinary tract", "tract 3", "congenital anomalies of", "anomalies of kidney", "of kidney and", "kidney and urinary", "and urinary tract", "urinary tract 3", "congenital anomalies of kidney", "anomalies of kidney and", "of kidney and urinary", "kidney and urinary tract", "and urinary tract 3", "congenital anomalies of kidney and", "anomalies of kidney and urinary", "of kidney and urinary tract", "kidney and urinary tract 3", "cakut3" ] }, { "record_id": "MONDO:0032650", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032650", "0032650", "mim:618276", "618276" ] }, { "record_id": "MONDO:0032650", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodegeneration", "childhood", "onset", "with", "cerebellar", "atrophy", "childhood onset", "with cerebellar", "cerebellar atrophy", "neurodegeneration childhood", "onset with", "with cerebellar atrophy", "neurodegeneration childhood onset", "childhood onset with", "onset with cerebellar", "childhood onset with cerebellar", "onset with cerebellar atrophy", "condca" ] }, { "record_id": "MONDO:0032650", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032650", "record_type": "disease", "section": "proteins", "phraselist": [ "q9upw5", "q9upw5 1", "cbpc1_human", "np_001273644", "glycoprotein", "agtpbp1", "ccp1", "condca", "kiaa1035", "nna1" ] }, { "record_id": "MONDO:0032650", "record_type": "disease", "section": "proteins", "phraselist": [ "cytosolic", "carboxypeptidase", "cytosolic carboxypeptidase", "carboxypeptidase 1", "cytosolic carboxypeptidase 1", "3.4.17.", "3.4.17.24", "atp/gtp", "binding", "protein", "atp/gtp binding", "binding protein", "protein 1", "atp/gtp binding protein", "binding protein 1", "atp/gtp binding protein 1", "nervous", "system", "nuclear", "induced", "by", "axotomy", "homolog", "nervous system", "system nuclear", "nuclear protein", "protein induced", "induced by", "by axotomy", "axotomy protein", "1 homolog", "nervous system nuclear", "system nuclear protein", "nuclear protein induced", "protein induced by", "induced by axotomy", "by axotomy protein", "axotomy protein 1", "protein 1 homolog", "nervous system nuclear protein", "system nuclear protein induced", "nuclear protein induced by", "protein induced by axotomy", "induced by axotomy protein", "by axotomy protein 1", "axotomy protein 1 homolog", "nervous system nuclear protein induced", "system nuclear protein induced by", "nuclear protein induced by axotomy", "protein induced by axotomy protein", "induced by axotomy protein 1", "by axotomy protein 1 homolog", "deglutamylase", "ccp1", "protein deglutamylase", "deglutamylase ccp1", "protein deglutamylase ccp1", "tubulin", "carboxypeptidase tubulin", "isoform", "1 isoform", "isoform a", "carboxypeptidase 1 isoform", "1 isoform a", "cytosolic carboxypeptidase 1 isoform", "carboxypeptidase 1 isoform a", "cytosolic carboxypeptidase 1 isoform a", "soluble", "soluble carboxypeptidase", "tubulinyl", "tyr", "tubulinyl tyr", "tyr carboxypeptidase", "tubulinyl tyr carboxypeptidase", "tyrosine", "tyrosine carboxypeptidase" ] }, { "record_id": "MONDO:0032651", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032651", "0032651", "mim:618278", "618278" ] }, { "record_id": "MONDO:0032651", "record_type": "disease", "section": "disease_name", "phraselist": [ "fibrosis", "neurodegeneration", "and", "cerebral", "angiomatosis", "and cerebral", "cerebral angiomatosis", "fibrosis neurodegeneration", "neurodegeneration and", "and cerebral angiomatosis", "neurodegeneration and cerebral", "fibrosis neurodegeneration and", "neurodegeneration and cerebral angiomatosis", "finca", "syndrome", "finca syndrome", "neurodegeneration cerebral", "angiomatosis syndrome", "fibrosis neurodegeneration cerebral", "neurodegeneration cerebral angiomatosis", "cerebral angiomatosis syndrome", "fibrosis neurodegeneration cerebral angiomatosis", "neurodegeneration cerebral angiomatosis syndrome", "fibrosis neurodegeneration cerebral angiomatosis syndrome" ] }, { "record_id": "MONDO:0032651", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032651", "record_type": "disease", "section": "proteins", "phraselist": [ "q8nbf2", "q8nbf2 1", "nhlc2_human", "np_940916", "glycoprotein", "nhlrc2", "finca" ] }, { "record_id": "MONDO:0032651", "record_type": "disease", "section": "proteins", "phraselist": [ "nhl", "repeat", "containing", "protein", "nhl repeat", "repeat containing", "containing protein", "protein 2", "nhl repeat containing", "repeat containing protein", "containing protein 2", "nhl repeat containing protein", "repeat containing protein 2", "nhl repeat containing protein 2", "1200003g01rik", "novel", "domain", "novel nhl", "repeat domain", "domain containing", "novel nhl repeat", "nhl repeat domain", "repeat domain containing", "domain containing protein", "novel nhl repeat domain", "nhl repeat domain containing", "repeat domain containing protein", "novel nhl repeat domain containing", "nhl repeat domain containing protein" ] }, { "record_id": "MONDO:0032653", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032653", "0032653", "mim:618280", "618280" ] }, { "record_id": "MONDO:0032653", "record_type": "disease", "section": "disease_name", "phraselist": [ "cardiac", "urogenital", "syndrome", "cardiac urogenital", "urogenital syndrome", "cardiac urogenital syndrome", "cugs" ] }, { "record_id": "MONDO:0032653", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032653", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y2g1", "q9y2g1 1", "myrf_human", "np_001120864", "glycoprotein", "myrf", "11orf9", "c11orf9", "cugs", "kiaa0954", "mmerv", "mrf", "nno1", "ndt80", "pqn", "47", "pqn 47" ] }, { "record_id": "MONDO:0032653", "record_type": "disease", "section": "proteins", "phraselist": [ "myelin", "regulatory", "factor", "myelin regulatory", "regulatory factor", "myelin regulatory factor", "3.4.", "3.4. .", "gene", "myelin gene", "gene regulatory", "myelin gene regulatory", "gene regulatory factor", "myelin gene regulatory factor", "isoform", "precursor", "factor isoform", "isoform 2", "2 precursor", "regulatory factor isoform", "factor isoform 2", "isoform 2 precursor", "myelin regulatory factor isoform", "regulatory factor isoform 2", "factor isoform 2 precursor", "myelin regulatory factor isoform 2", "regulatory factor isoform 2 precursor" ] }, { "record_id": "MONDO:0032656", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032656", "0032656", "mim:618284", "618284" ] }, { "record_id": "MONDO:0032656", "record_type": "disease", "section": "disease_name", "phraselist": [ "microcephaly", "cataracts", "impaired", "intellectual", "development", "and", "dystonia", "with", "abnormal", "striatum", "impaired intellectual", "intellectual development", "and dystonia", "dystonia with", "with abnormal", "abnormal striatum", "microcephaly cataracts", "cataracts impaired", "impaired intellectual development", "development and", "and dystonia with", "dystonia with abnormal", "with abnormal striatum", "cataracts impaired intellectual", "intellectual development and", "development and dystonia", "and dystonia with abnormal", "dystonia with abnormal striatum", "microcephaly cataracts impaired", "cataracts impaired intellectual development", "impaired intellectual development and", "intellectual development and dystonia", "development and dystonia with", "and dystonia with abnormal striatum", "mcidds" ] }, { "record_id": "MONDO:0032656", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032656", "record_type": "disease", "section": "proteins", "phraselist": [ "p22459", "p22459 1", "kcna4_human", "np_002224", "glycoprotein", "kcna4", "hbk4", "hk1", "hpcn2", "hukii", "kcna4l", "kcna8", "kv1.4", "mcidds", "pcn2" ] }, { "record_id": "MONDO:0032656", "record_type": "disease", "section": "proteins", "phraselist": [ "potassium", "voltage", "gated", "channel", "subfamily", "member", "potassium voltage", "voltage gated", "gated channel", "channel subfamily", "subfamily a", "a member", "member 4", "potassium voltage gated", "voltage gated channel", "gated channel subfamily", "channel subfamily a", "subfamily a member", "a member 4", "potassium voltage gated channel", "voltage gated channel subfamily", "gated channel subfamily a", "channel subfamily a member", "subfamily a member 4", "potassium voltage gated channel subfamily", "voltage gated channel subfamily a", "gated channel subfamily a member", "channel subfamily a member 4", "hpcn2", "hukii", "gated k", "k +", "channel hukii", "voltage gated k", "gated k +", "+ channel", "voltage gated k +", "k + channel", "+ channel hukii", "gated k + channel", "k + channel hukii", "hbk4", "gated potassium", "potassium channel", "channel hbk4", "voltage gated potassium", "gated potassium channel", "potassium channel hbk4", "voltage gated potassium channel", "gated potassium channel hbk4", "voltage gated potassium channel hbk4", "hk1", "channel hk1", "potassium channel hk1", "gated potassium channel hk1", "voltage gated potassium channel hk1", "subunit", "kv1.4", "channel subunit", "subunit kv1.4", "potassium channel subunit", "channel subunit kv1.4", "gated potassium channel subunit", "potassium channel subunit kv1.4", "voltage gated potassium channel subunit", "gated potassium channel subunit kv1.4", "cardiac", "cardiac potassium", "cardiac potassium channel", "fetal", "skeletal", "muscle", "fetal skeletal", "skeletal muscle", "muscle potassium", "fetal skeletal muscle", "skeletal muscle potassium", "muscle potassium channel", "fetal skeletal muscle potassium", "skeletal muscle potassium channel", "fetal skeletal muscle potassium channel", "channel 2", "potassium channel 2", "shaker", "related", "gated shaker", "shaker related", "related subfamily", "channel voltage", "voltage gated shaker", "gated shaker related", "shaker related subfamily", "related subfamily a", "potassium channel voltage", "channel voltage gated", "voltage gated shaker related", "gated shaker related subfamily", "shaker related subfamily a", "potassium channel voltage gated", "channel voltage gated shaker", "voltage gated shaker related subfamily", "gated shaker related subfamily a", "related subfamily a member", "rapidly", "inactivating", "rapidly inactivating", "inactivating potassium", "rapidly inactivating potassium", "inactivating potassium channel", "rapidly inactivating potassium channel", "related potassium", "channel kv1.4", "shaker related potassium", "related potassium channel", "potassium channel kv1.4", "shaker related potassium channel", "related potassium channel kv1.4", "shaker related potassium channel kv1.4", "type", "type a", "a potassium", "type a potassium", "a potassium channel", "type a potassium channel" ] }, { "record_id": "MONDO:0032658", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032658", "0032658", "mim:618286", "618286" ] }, { "record_id": "MONDO:0032658", "record_type": "disease", "section": "disease_name", "phraselist": [ "macrocephaly", "acquired", "with", "impaired", "intellectual", "development", "with impaired", "impaired intellectual", "intellectual development", "macrocephaly acquired", "acquired with", "with impaired intellectual", "impaired intellectual development", "acquired with impaired", "with impaired intellectual development", "macrocephaly acquired with", "acquired with impaired intellectual", "macid" ] }, { "record_id": "MONDO:0032658", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032658", "record_type": "disease", "section": "proteins", "phraselist": [ "o00712", "o00712 1", "nfib_human", "np_001177667", "glycoprotein", "nfib", "ctf", "hmgic/nfib", "macid", "nf", "i/b", "nf i/b", "nf1", "nf1 b", "nfi", "nfi b", "red", "nfi red", "nfib2", "nfib3" ] }, { "record_id": "MONDO:0032658", "record_type": "disease", "section": "proteins", "phraselist": [ "nuclear", "factor", "type", "nuclear factor", "factor 1", "1 b", "b type", "nuclear factor 1", "factor 1 b", "1 b type", "nuclear factor 1 b", "factor 1 b type", "nuclear factor 1 b type", "ccaat", "box", "binding", "transcription", "ccaat box", "box binding", "binding transcription", "transcription factor", "ccaat box binding", "box binding transcription", "binding transcription factor", "ccaat box binding transcription", "box binding transcription factor", "ccaat box binding transcription factor", "ctf", "nf", "i/b", "nf i/b", "nf1", "nf1 b", "nfi", "nfi b", "1/b", "factor 1/b", "nuclear factor 1/b", "factor i/b", "nuclear factor i/b", "tggca", "protein", "tggca binding", "binding protein", "tggca binding protein", "isoform", "type isoform", "isoform 2", "b type isoform", "type isoform 2", "1 b type isoform", "b type isoform 2", "factor 1 b type isoform", "1 b type isoform 2" ] }, { "record_id": "MONDO:0032659", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032659", "0032659", "mim:618287", "618287" ] }, { "record_id": "MONDO:0032659", "record_type": "disease", "section": "disease_name", "phraselist": [ "mucocutaneous", "ulceration", "chronic", "mucocutaneous ulceration", "ulceration chronic", "mucocutaneous ulceration chronic", "cmcu", "autoinflammatory", "disease", "familial", "behcet", "like", "autoinflammatory disease", "behcet like", "like 3", "disease familial", "familial behcet", "behcet like 3", "autoinflammatory disease familial", "familial behcet like", "disease familial behcet", "familial behcet like 3" ] }, { "record_id": "MONDO:0032659", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032659", "record_type": "disease", "section": "proteins", "phraselist": [ "q04206", "q04206 1", "tf65_human", "np_001138610", "glycoprotein", "rela", "aif3bl3", "cmcu", "nfkb3", "p65" ] }, { "record_id": "MONDO:0032659", "record_type": "disease", "section": "proteins", "phraselist": [ "transcription", "factor", "p65", "transcription factor", "factor p65", "transcription factor p65", "nf", "kappa", "p65delta3", "nf kappa", "kappa b", "b p65delta3", "nf kappa b", "kappa b p65delta3", "nf kappa b p65delta3", "b transcription", "kappa b transcription", "b transcription factor", "nf kappa b transcription", "kappa b transcription factor", "b transcription factor p65", "nf kappa b transcription factor", "kappa b transcription factor p65", "nuclear", "subunit", "nuclear factor", "factor nf", "b p65", "p65 subunit", "nuclear factor nf", "factor nf kappa", "kappa b p65", "b p65 subunit", "nuclear factor nf kappa", "factor nf kappa b", "nf kappa b p65", "kappa b p65 subunit", "nuclear factor nf kappa b", "factor nf kappa b p65", "nf kappa b p65 subunit", "of", "light", "polypeptide", "gene", "enhancer", "in", "cells", "factor of", "of kappa", "kappa light", "light polypeptide", "polypeptide gene", "gene enhancer", "enhancer in", "in b", "b cells", "cells 3", "nuclear factor of", "factor of kappa", "of kappa light", "kappa light polypeptide", "light polypeptide gene", "polypeptide gene enhancer", "gene enhancer in", "enhancer in b", "in b cells", "b cells 3", "nuclear factor of kappa", "factor of kappa light", "of kappa light polypeptide", "kappa light polypeptide gene", "light polypeptide gene enhancer", "polypeptide gene enhancer in", "gene enhancer in b", "enhancer in b cells", "in b cells 3", "nuclear factor of kappa light", "factor of kappa light polypeptide", "of kappa light polypeptide gene", "kappa light polypeptide gene enhancer", "light polypeptide gene enhancer in", "polypeptide gene enhancer in b", "gene enhancer in b cells", "enhancer in b cells 3", "iso5", "isoform", "delta", "10", "p65 iso5", "iso5 isoform", "isoform delta", "delta 10", "p65 iso5 isoform", "iso5 isoform delta", "isoform delta 10", "p65 iso5 isoform delta", "iso5 isoform delta 10", "p65 iso5 isoform delta 10", "6/7", "delta 6/7", "isoform delta 6/7", "iso5 isoform delta 6/7", "p65 iso5 isoform delta 6/7", "p65 isoform", "isoform 2", "factor p65 isoform", "p65 isoform 2", "transcription factor p65 isoform", "factor p65 isoform 2", "transcription factor p65 isoform 2", "rel", "avian", "reticuloendotheliosis", "viral", "oncogene", "homolog", "v rel", "rel avian", "avian reticuloendotheliosis", "reticuloendotheliosis viral", "viral oncogene", "oncogene homolog", "homolog a", "v rel avian", "rel avian reticuloendotheliosis", "avian reticuloendotheliosis viral", "reticuloendotheliosis viral oncogene", "viral oncogene homolog", "oncogene homolog a", "v rel avian reticuloendotheliosis", "rel avian reticuloendotheliosis viral", "avian reticuloendotheliosis viral oncogene", "reticuloendotheliosis viral oncogene homolog", "viral oncogene homolog a", "v rel avian reticuloendotheliosis viral", "rel avian reticuloendotheliosis viral oncogene", "avian reticuloendotheliosis viral oncogene homolog", "reticuloendotheliosis viral oncogene homolog a" ] }, { "record_id": "MONDO:0032661", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032661", "0032661", "mim:618292", "618292" ] }, { "record_id": "MONDO:0032661", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "impaired", "intellectual", "development", "hypotonia", "and", "ataxia", "neurodevelopmental disorder", "disorder with", "with impaired", "impaired intellectual", "intellectual development", "and ataxia", "neurodevelopmental disorder with", "disorder with impaired", "with impaired intellectual", "impaired intellectual development", "development hypotonia", "hypotonia and", "neurodevelopmental disorder with impaired", "disorder with impaired intellectual", "with impaired intellectual development", "intellectual development hypotonia", "hypotonia and ataxia", "neurodevelopmental disorder with impaired intellectual", "disorder with impaired intellectual development", "impaired intellectual development hypotonia", "development hypotonia and", "nedidha" ] }, { "record_id": "MONDO:0032661", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032661", "record_type": "disease", "section": "proteins", "phraselist": [ "q8izd9", "q8izd9 1", "dock3_human", "np_004938", "glycoprotein", "dock3", "kiaa0299", "moca", "nedidha", "pbp" ] }, { "record_id": "MONDO:0032661", "record_type": "disease", "section": "proteins", "phraselist": [ "dedicator", "of", "cytokinesis", "protein", "dedicator of", "of cytokinesis", "cytokinesis protein", "protein 3", "dedicator of cytokinesis", "of cytokinesis protein", "cytokinesis protein 3", "dedicator of cytokinesis protein", "of cytokinesis protein 3", "dedicator of cytokinesis protein 3", "modifier", "cell", "adhesion", "modifier of", "of cell", "cell adhesion", "modifier of cell", "of cell adhesion", "modifier of cell adhesion", "pbp", "ps", "binding", "ps binding", "binding protein", "ps binding protein", "presenilin", "presenilin binding", "presenilin binding protein" ] }, { "record_id": "MONDO:0032672", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032672", "0032672", "mim:618316", "618316" ] }, { "record_id": "MONDO:0032672", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "cardiac", "defects", "and", "dysmorphic", "facies", "intellectual developmental", "developmental disorder", "disorder with", "with cardiac", "cardiac defects", "defects and", "and dysmorphic", "dysmorphic facies", "intellectual developmental disorder", "developmental disorder with", "disorder with cardiac", "with cardiac defects", "cardiac defects and", "defects and dysmorphic", "and dysmorphic facies", "intellectual developmental disorder with", "developmental disorder with cardiac", "disorder with cardiac defects", "with cardiac defects and", "cardiac defects and dysmorphic", "defects and dysmorphic facies", "intellectual developmental disorder with cardiac", "developmental disorder with cardiac defects", "disorder with cardiac defects and", "with cardiac defects and dysmorphic", "cardiac defects and dysmorphic facies", "tmem94", "associated", "congenital", "heart", "defect", "facial", "dysmorphism", "delay", "syndrome", "tmem94 associated", "associated congenital", "congenital heart", "heart defect", "defect facial", "facial dysmorphism", "dysmorphism developmental", "developmental delay", "delay syndrome", "tmem94 associated congenital", "associated congenital heart", "congenital heart defect", "heart defect facial", "defect facial dysmorphism", "facial dysmorphism developmental", "dysmorphism developmental delay", "developmental delay syndrome", "tmem94 associated congenital heart", "associated congenital heart defect", "congenital heart defect facial", "heart defect facial dysmorphism", "defect facial dysmorphism developmental", "facial dysmorphism developmental delay", "dysmorphism developmental delay syndrome", "tmem94 associated congenital heart defect", "associated congenital heart defect facial", "congenital heart defect facial dysmorphism", "heart defect facial dysmorphism developmental", "defect facial dysmorphism developmental delay", "facial dysmorphism developmental delay syndrome", "iddcdf" ] }, { "record_id": "MONDO:0032672", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032672", "record_type": "disease", "section": "proteins", "phraselist": [ "q12767", "q12767 1", "tmm94_human", "np_001308077", "glycoprotein", "tmem94", "erma", "iddcdf", "kiaa0195" ] }, { "record_id": "MONDO:0032672", "record_type": "disease", "section": "proteins", "phraselist": [ "transmembrane", "protein", "94", "transmembrane protein", "protein 94", "transmembrane protein 94", "er", "mg2+", "atpase", "er mg2+", "mg2+ atpase", "er mg2+ atpase", "endoplasmic", "reticulum", "magnesium", "endoplasmic reticulum", "reticulum magnesium", "magnesium atpase", "endoplasmic reticulum magnesium", "reticulum magnesium atpase", "endoplasmic reticulum magnesium atpase", "transporting", "type", "magnesium transporting", "transporting p", "p type", "type atpase", "reticulum magnesium transporting", "magnesium transporting p", "transporting p type", "p type atpase", "endoplasmic reticulum magnesium transporting", "reticulum magnesium transporting p", "magnesium transporting p type", "transporting p type atpase", "endoplasmic reticulum magnesium transporting p", "reticulum magnesium transporting p type", "magnesium transporting p type atpase", "isoform", "94 isoform", "isoform 2", "protein 94 isoform", "94 isoform 2", "transmembrane protein 94 isoform", "protein 94 isoform 2", "transmembrane protein 94 isoform 2" ] }, { "record_id": "MONDO:0032673", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032673", "0032673", "mim:618317", "618317" ] }, { "record_id": "MONDO:0032673", "record_type": "disease", "section": "disease_name", "phraselist": [ "basal", "ganglia", "calcification", "idiopathic", "autosomal", "recessive", "basal ganglia", "ganglia calcification", "autosomal recessive", "basal ganglia calcification", "calcification idiopathic", "idiopathic 7", "7 autosomal", "ganglia calcification idiopathic", "7 autosomal recessive", "basal ganglia calcification idiopathic", "calcification idiopathic 7", "idiopathic 7 autosomal", "ibgc7" ] }, { "record_id": "MONDO:0032673", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032673", "record_type": "disease", "section": "proteins", "phraselist": [ "q6nsj0", "q6nsj0 1", "myorg_human", "np_065753", "glycoprotein", "myorg", "ibgc7", "kiaa1161", "net37" ] }, { "record_id": "MONDO:0032673", "record_type": "disease", "section": "proteins", "phraselist": [ "alpha", "galactosidase", "myorg", "alpha galactosidase", "galactosidase myorg", "alpha galactosidase myorg", "3.2.1.22", "myogenesis", "regulating", "glycosidase", "myogenesis regulating", "regulating glycosidase", "myogenesis regulating glycosidase", "nuclear", "envelope", "transmembrane", "protein", "37", "nuclear envelope", "envelope transmembrane", "transmembrane protein", "protein 37", "nuclear envelope transmembrane", "envelope transmembrane protein", "transmembrane protein 37", "nuclear envelope transmembrane protein", "envelope transmembrane protein 37", "nuclear envelope transmembrane protein 37", "putative", "glycosidase putative", "regulating glycosidase putative", "myogenesis regulating glycosidase putative" ] }, { "record_id": "MONDO:0032675", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032675", "0032675", "mim:618323", "618323" ] }, { "record_id": "MONDO:0032675", "record_type": "disease", "section": "disease_name", "phraselist": [ "myasthenic", "syndrome", "congenital", "25", "presynaptic", "myasthenic syndrome", "syndrome congenital", "congenital 25", "25 presynaptic", "myasthenic syndrome congenital", "syndrome congenital 25", "congenital 25 presynaptic", "cms25" ] }, { "record_id": "MONDO:0032675", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032675", "record_type": "disease", "section": "proteins", "phraselist": [ "p23763", "p23763 1", "vamp1_human", "np_055046", "vamp1", "cms25", "sax1", "spax1", "syb1", "vamp", "vamp 1" ] }, { "record_id": "MONDO:0032675", "record_type": "disease", "section": "proteins", "phraselist": [ "vesicle", "associated", "membrane", "protein", "vesicle associated", "associated membrane", "membrane protein", "protein 1", "vesicle associated membrane", "associated membrane protein", "membrane protein 1", "vesicle associated membrane protein", "associated membrane protein 1", "vesicle associated membrane protein 1", "synaptobrevin", "synaptobrevin 1", "vamp", "vamp 1", "spastic", "ataxia", "autosomal", "dominant", "spastic ataxia", "ataxia 1", "autosomal dominant", "spastic ataxia 1", "1 autosomal", "ataxia 1 autosomal", "1 autosomal dominant", "spastic ataxia 1 autosomal", "ataxia 1 autosomal dominant", "1 synaptobrevin", "protein 1 synaptobrevin", "1 synaptobrevin 1", "membrane protein 1 synaptobrevin", "protein 1 synaptobrevin 1", "isoform", "1 isoform", "isoform 1", "protein 1 isoform", "1 isoform 1", "membrane protein 1 isoform", "protein 1 isoform 1", "associated membrane protein 1 isoform", "membrane protein 1 isoform 1" ] }, { "record_id": "MONDO:0032680", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032680", "0032680", "mim:618330", "618330" ] }, { "record_id": "MONDO:0032680", "record_type": "disease", "section": "disease_name", "phraselist": [ "global", "developmental", "delay", "with", "or", "without", "impaired", "intellectual", "development", "global developmental", "developmental delay", "delay with", "with or", "or without", "without impaired", "impaired intellectual", "intellectual development", "global developmental delay", "developmental delay with", "delay with or", "with or without", "or without impaired", "without impaired intellectual", "impaired intellectual development", "global developmental delay with", "developmental delay with or", "delay with or without", "with or without impaired", "or without impaired intellectual", "without impaired intellectual development", "global developmental delay with or", "developmental delay with or without", "delay with or without impaired", "with or without impaired intellectual", "or without impaired intellectual development", "gddi", "neurodevelopmental", "disorder", "and", "motor", "speech", "neurodevelopmental disorder", "disorder with", "with developmental", "delay and", "and with", "without motor", "motor or", "or speech", "speech delay", "neurodevelopmental disorder with", "disorder with developmental", "with developmental delay", "developmental delay and", "delay and with", "and with or", "or without motor", "without motor or", "motor or speech", "or speech delay", "neurodevelopmental disorder with developmental", "disorder with developmental delay", "with developmental delay and", "developmental delay and with", "delay and with or", "and with or without", "with or without motor", "or without motor or", "without motor or speech", "motor or speech delay", "neurodevelopmental disorder with developmental delay", "disorder with developmental delay and", "with developmental delay and with", "developmental delay and with or", "delay and with or without", "and with or without motor", "with or without motor or", "or without motor or speech", "without motor or speech delay" ] }, { "record_id": "MONDO:0032680", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032680", "record_type": "disease", "section": "proteins", "phraselist": [ "p39880", "p39880 1", "cux1_human", "np_001189473", "glycoprotein", "cux1", "casp", "cdp/cut", "cdp1", "cdp", "coy1", "cutl1", "cux", "clox", "cux/cdp", "gddi", "golim6", "neddms", "nbla10317", "p100", "p110", "p200", "p75" ] }, { "record_id": "MONDO:0032680", "record_type": "disease", "section": "proteins", "phraselist": [ "homeobox", "protein", "cut", "like", "homeobox protein", "protein cut", "cut like", "like 1", "homeobox protein cut", "protein cut like", "cut like 1", "homeobox protein cut like", "protein cut like 1", "homeobox protein cut like 1", "ccaat", "displacement", "ccaat displacement", "displacement protein", "ccaat displacement protein", "cdp/cux", "p200", "cdp/cux p200", "cdp", "cux1", "gene", "alternatively", "spliced", "product", "cux1 gene", "gene alternatively", "alternatively spliced", "spliced product", "cux1 gene alternatively", "gene alternatively spliced", "alternatively spliced product", "cux1 gene alternatively spliced", "gene alternatively spliced product", "cux1 gene alternatively spliced product", "cux", "protein cux", "cux 1", "homeobox protein cux", "protein cux 1", "homeobox protein cux 1", "homolog", "cut homolog", "golgi", "integral", "membrane", "golgi integral", "integral membrane", "membrane protein", "protein 6", "golgi integral membrane", "integral membrane protein", "membrane protein 6", "golgi integral membrane protein", "integral membrane protein 6", "golgi integral membrane protein 6", "mutant", "mutant cux1", "casp", "isoform", "protein casp", "casp isoform", "isoform e", "protein casp isoform", "casp isoform e", "protein casp isoform e", "putative", "of", "nbla10317", "putative protein", "protein product", "product of", "of nbla10317", "putative protein product", "protein product of", "product of nbla10317", "putative protein product of", "protein product of nbla10317", "putative protein product of nbla10317" ] }, { "record_id": "MONDO:0032681", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032681", "0032681", "mim:618331", "618331" ] }, { "record_id": "MONDO:0032681", "record_type": "disease", "section": "disease_name", "phraselist": [ "encephalopathy", "progressive", "early", "onset", "with", "episodic", "rhabdomyolysis", "early onset", "with episodic", "episodic rhabdomyolysis", "encephalopathy progressive", "progressive early", "onset with", "with episodic rhabdomyolysis", "progressive early onset", "early onset with", "onset with episodic", "encephalopathy progressive early", "early onset with episodic", "onset with episodic rhabdomyolysis", "peerb" ] }, { "record_id": "MONDO:0032681", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032681", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ul33", "q9ul33 1", "tpc2l_human", "np_001305453", "trappc2l", "hspc126", "hspc176", "perrb" ] }, { "record_id": "MONDO:0032681", "record_type": "disease", "section": "proteins", "phraselist": [ "trafficking", "protein", "particle", "complex", "subunit", "like", "trafficking protein", "protein particle", "particle complex", "complex subunit", "subunit 2", "2 like", "like protein", "trafficking protein particle", "protein particle complex", "particle complex subunit", "complex subunit 2", "subunit 2 like", "2 like protein", "trafficking protein particle complex", "protein particle complex subunit", "particle complex subunit 2", "complex subunit 2 like", "subunit 2 like protein", "trafficking protein particle complex subunit", "protein particle complex subunit 2", "particle complex subunit 2 like", "complex subunit 2 like protein", "hematopoietic", "stem/progenitor", "cells", "176", "hematopoietic stem/progenitor", "stem/progenitor cells", "cells 176", "hematopoietic stem/progenitor cells", "stem/progenitor cells 176", "hematopoietic stem/progenitor cells 176", "complex 2", "particle complex 2", "complex 2 like", "protein particle complex 2", "particle complex 2 like", "trafficking protein particle complex 2", "protein particle complex 2 like", "isoform", "protein isoform", "isoform 1", "like protein isoform", "protein isoform 1", "2 like protein isoform", "like protein isoform 1", "subunit 2 like protein isoform", "2 like protein isoform 1" ] }, { "record_id": "MONDO:0032684", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032684", "0032684", "mim:618336", "618336" ] }, { "record_id": "MONDO:0032684", "record_type": "disease", "section": "disease_name", "phraselist": [ "intrauterine", "growth", "retardation", "metaphyseal", "dysplasia", "adrenal", "hypoplasia", "congenita", "genital", "anomalies", "and", "immunodeficiency", "intrauterine growth", "growth retardation", "metaphyseal dysplasia", "adrenal hypoplasia", "hypoplasia congenita", "genital anomalies", "and immunodeficiency", "intrauterine growth retardation", "retardation metaphyseal", "dysplasia adrenal", "adrenal hypoplasia congenita", "congenita genital", "anomalies and", "growth retardation metaphyseal", "retardation metaphyseal dysplasia", "metaphyseal dysplasia adrenal", "dysplasia adrenal hypoplasia", "hypoplasia congenita genital", "congenita genital anomalies", "genital anomalies and", "anomalies and immunodeficiency", "intrauterine growth retardation metaphyseal", "growth retardation metaphyseal dysplasia", "metaphyseal dysplasia adrenal hypoplasia", "dysplasia adrenal hypoplasia congenita", "adrenal hypoplasia congenita genital", "hypoplasia congenita genital anomalies", "genital anomalies and immunodeficiency", "image", "syndrome", "image i", "i syndrome", "image i syndrome", "imagei" ] }, { "record_id": "MONDO:0032684", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032684", "record_type": "disease", "section": "proteins", "phraselist": [ "q07864", "q07864 1", "dpoe1_human", "np_006222", "glycoprotein", "pole", "crcs12", "fils", "imagei", "pole1" ] }, { "record_id": "MONDO:0032684", "record_type": "disease", "section": "proteins", "phraselist": [ "dna", "polymerase", "epsilon", "catalytic", "subunit", "dna polymerase", "polymerase epsilon", "epsilon catalytic", "catalytic subunit", "subunit a", "dna polymerase epsilon", "polymerase epsilon catalytic", "epsilon catalytic subunit", "catalytic subunit a", "dna polymerase epsilon catalytic", "polymerase epsilon catalytic subunit", "epsilon catalytic subunit a", "dna polymerase epsilon catalytic subunit", "polymerase epsilon catalytic subunit a", "2.7.7.7", "3'", "5'", "exodeoxyribonuclease", "3' 5'", "5' exodeoxyribonuclease", "3' 5' exodeoxyribonuclease", "3.1.11.", "ii", "polymerase ii", "ii subunit", "dna polymerase ii", "polymerase ii subunit", "ii subunit a", "dna polymerase ii subunit", "polymerase ii subunit a", "dna polymerase ii subunit a", "protein", "subunit protein", "catalytic subunit protein", "epsilon catalytic subunit protein", "polymerase epsilon catalytic subunit protein", "directed", "dna directed", "polymerase dna", "polymerase dna directed", "directed epsilon", "dna directed epsilon", "dna epsilon", "polymerase dna epsilon", "dna epsilon catalytic" ] }, { "record_id": "MONDO:0032688", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032688", "0032688", "mim:618343", "618343" ] }, { "record_id": "MONDO:0032688", "record_type": "disease", "section": "disease_name", "phraselist": [ "polymicrogyria", "with", "or", "without", "vascular", "type", "ehlers", "danlos", "syndrome", "polymicrogyria with", "with or", "or without", "without vascular", "vascular type", "type ehlers", "ehlers danlos", "danlos syndrome", "polymicrogyria with or", "with or without", "or without vascular", "without vascular type", "vascular type ehlers", "type ehlers danlos", "ehlers danlos syndrome", "polymicrogyria with or without", "with or without vascular", "or without vascular type", "without vascular type ehlers", "vascular type ehlers danlos", "type ehlers danlos syndrome", "polymicrogyria with or without vascular", "with or without vascular type", "or without vascular type ehlers", "without vascular type ehlers danlos", "vascular type ehlers danlos syndrome", "eds", "type eds", "vascular type eds", "without vascular type eds", "or without vascular type eds", "vascular ehlers", "danlos polymicrogyria", "polymicrogyria syndrome", "vascular ehlers danlos", "ehlers danlos polymicrogyria", "danlos polymicrogyria syndrome", "vascular ehlers danlos polymicrogyria", "ehlers danlos polymicrogyria syndrome", "vascular ehlers danlos polymicrogyria syndrome", "pmgedsv" ] }, { "record_id": "MONDO:0032688", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032688", "record_type": "disease", "section": "proteins", "phraselist": [ "p02461", "p02461 1", "co3a1_human", "np_000081", "glycoprotein", "col3a1", "eds4a", "edsvasc", "pmgedsv" ] }, { "record_id": "MONDO:0032688", "record_type": "disease", "section": "proteins", "phraselist": [ "collagen", "alpha", "iii", "chain", "collagen alpha", "alpha 1", "1 iii", "collagen alpha 1", "alpha 1 iii", "iii chain", "collagen alpha 1 iii", "1 iii chain", "alpha 1 iii chain", "ehlers", "danlos", "syndrome", "type", "iv", "autosomal", "dominant", "ehlers danlos", "danlos syndrome", "syndrome type", "type iv", "autosomal dominant", "ehlers danlos syndrome", "danlos syndrome type", "syndrome type iv", "iv autosomal", "ehlers danlos syndrome type", "danlos syndrome type iv", "type iv autosomal", "iv autosomal dominant", "ehlers danlos syndrome type iv", "syndrome type iv autosomal", "type iv autosomal dominant", "1 type", "type iii", "iii collagen", "alpha 1 type", "1 type iii", "type iii collagen", "alpha 1 type iii", "1 type iii collagen", "alpha 1 type iii collagen", "alpha1", "alpha1 iii", "alpha1 iii collagen", "preproprotein", "chain preproprotein", "iii chain preproprotein", "1 iii chain preproprotein", "fetal", "collagen fetal", "collagen type", "iii alpha", "collagen type iii", "type iii alpha", "iii alpha 1", "type iii alpha 1" ] }, { "record_id": "MONDO:0032691", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032691", "0032691", "mim:618347", "618347" ] }, { "record_id": "MONDO:0032691", "record_type": "disease", "section": "disease_name", "phraselist": [ "galloway", "mowat", "syndrome", "galloway mowat", "mowat syndrome", "syndrome 6", "galloway mowat syndrome", "mowat syndrome 6", "galloway mowat syndrome 6", "gamos6" ] }, { "record_id": "MONDO:0032692", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032692", "0032692", "mim:618348", "618348" ] }, { "record_id": "MONDO:0032692", "record_type": "disease", "section": "disease_name", "phraselist": [ "galloway", "mowat", "syndrome", "galloway mowat", "mowat syndrome", "syndrome 7", "galloway mowat syndrome", "mowat syndrome 7", "galloway mowat syndrome 7", "gamos7" ] }, { "record_id": "MONDO:0032693", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032693", "0032693", "mim:618349", "618349" ] }, { "record_id": "MONDO:0032693", "record_type": "disease", "section": "disease_name", "phraselist": [ "galloway", "mowat", "syndrome", "galloway mowat", "mowat syndrome", "syndrome 8", "galloway mowat syndrome", "mowat syndrome 8", "galloway mowat syndrome 8", "gamos8" ] }, { "record_id": "MONDO:0032696", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032696", "0032696", "mim:618353", "618353" ] }, { "record_id": "MONDO:0032696", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte", "maturation", "defect", "oocyte maturation", "maturation defect", "defect 6", "oocyte maturation defect", "maturation defect 6", "oocyte maturation defect 6", "oomd6", "oocyte/zygote/embryo", "arrest", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 6", "oocyte/zygote/embryo maturation arrest", "maturation arrest 6", "oocyte/zygote/embryo maturation arrest 6" ] }, { "record_id": "MONDO:0032696", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032696", "record_type": "disease", "section": "proteins", "phraselist": [ "q05996", "q05996 1", "zp2_human", "np_003451", "glycoprotein", "zp2", "oomd6", "ozema6", "zpa", "zp", "zp 2" ] }, { "record_id": "MONDO:0032696", "record_type": "disease", "section": "proteins", "phraselist": [ "zona", "pellucida", "sperm", "binding", "protein", "zona pellucida", "pellucida sperm", "sperm binding", "binding protein", "protein 2", "zona pellucida sperm", "pellucida sperm binding", "sperm binding protein", "binding protein 2", "zona pellucida sperm binding", "pellucida sperm binding protein", "sperm binding protein 2", "zona pellucida sperm binding protein", "pellucida sperm binding protein 2", "glycoprotein", "pellucida glycoprotein", "glycoprotein 2", "zona pellucida glycoprotein", "pellucida glycoprotein 2", "zona pellucida glycoprotein 2", "pellucida protein", "protein a", "zona pellucida protein", "pellucida protein a", "zona pellucida protein a", "zp", "zp 2", "pellucida 2", "zona pellucida 2", "receptor", "sperm receptor", "2 sperm", "glycoprotein 2 sperm", "2 sperm receptor", "pellucida glycoprotein 2 sperm", "glycoprotein 2 sperm receptor", "zp2", "glycoprotein zp2", "pellucida glycoprotein zp2", "zona pellucida glycoprotein zp2", "isoform", "preproprotein", "2 isoform", "isoform 1", "1 preproprotein", "protein 2 isoform", "2 isoform 1", "isoform 1 preproprotein", "binding protein 2 isoform", "protein 2 isoform 1", "2 isoform 1 preproprotein", "sperm binding protein 2 isoform", "binding protein 2 isoform 1", "protein 2 isoform 1 preproprotein" ] }, { "record_id": "MONDO:0032697", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032697", "0032697", "mim:618354", "618354" ] }, { "record_id": "MONDO:0032697", "record_type": "disease", "section": "disease_name", "phraselist": [ "houge", "janssens", "syndrome", "houge janssens", "janssens syndrome", "syndrome 3", "houge janssens syndrome", "janssens syndrome 3", "houge janssens syndrome 3", "nedlba", "neurodevelopmental", "disorder", "and", "language", "delay", "with", "or", "without", "structural", "brain", "abnormalities", "neurodevelopmental disorder", "disorder and", "and language", "language delay", "delay with", "with or", "or without", "without structural", "structural brain", "brain abnormalities", "neurodevelopmental disorder and", "disorder and language", "and language delay", "language delay with", "delay with or", "with or without", "or without structural", "without structural brain", "structural brain abnormalities", "neurodevelopmental disorder and language", "disorder and language delay", "and language delay with", "language delay with or", "delay with or without", "with or without structural", "or without structural brain", "without structural brain abnormalities", "neurodevelopmental disorder and language delay", "disorder and language delay with", "and language delay with or", "language delay with or without", "delay with or without structural", "with or without structural brain", "or without structural brain abnormalities" ] }, { "record_id": "MONDO:0032697", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032697", "record_type": "disease", "section": "proteins", "phraselist": [ "p67775", "p67775 1", "pp2aa_human", "np_002706", "glycoprotein", "ppp2ca", "hjs3", "nedlba", "pp2ac", "pp2ca", "pp2calpha", "rp", "rp c" ] }, { "record_id": "MONDO:0032697", "record_type": "disease", "section": "proteins", "phraselist": [ "serine/threonine", "protein", "phosphatase", "2a", "catalytic", "subunit", "alpha", "isoform", "serine/threonine protein", "protein phosphatase", "phosphatase 2a", "2a catalytic", "catalytic subunit", "subunit alpha", "alpha isoform", "serine/threonine protein phosphatase", "protein phosphatase 2a", "phosphatase 2a catalytic", "2a catalytic subunit", "catalytic subunit alpha", "subunit alpha isoform", "serine/threonine protein phosphatase 2a", "protein phosphatase 2a catalytic", "phosphatase 2a catalytic subunit", "2a catalytic subunit alpha", "catalytic subunit alpha isoform", "serine/threonine protein phosphatase 2a catalytic", "protein phosphatase 2a catalytic subunit", "phosphatase 2a catalytic subunit alpha", "2a catalytic subunit alpha isoform", "3.1.3.16", "pp2a", "pp2a alpha", "rp", "rp c", "replication", "replication protein", "protein c", "replication protein c", "isozyme", "phosphatase 2", "alpha isozyme", "protein phosphatase 2", "2 catalytic", "phosphatase 2 catalytic", "2 catalytic subunit", "subunit alpha isozyme", "protein phosphatase 2 catalytic", "phosphatase 2 catalytic subunit", "catalytic subunit alpha isozyme", "isoform isoform", "isoform 1", "alpha isoform isoform", "isoform isoform 1", "subunit alpha isoform isoform", "alpha isoform isoform 1", "catalytic subunit alpha isoform isoform", "subunit alpha isoform isoform 1" ] }, { "record_id": "MONDO:0032698", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032698", "0032698", "mim:618356", "618356" ] }, { "record_id": "MONDO:0032698", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "central", "and", "peripheral", "motor", "dysfunction", "neurodevelopmental disorder", "disorder with", "with central", "central and", "and peripheral", "peripheral motor", "motor dysfunction", "neurodevelopmental disorder with", "disorder with central", "with central and", "central and peripheral", "and peripheral motor", "peripheral motor dysfunction", "neurodevelopmental disorder with central", "disorder with central and", "with central and peripheral", "central and peripheral motor", "and peripheral motor dysfunction", "neurodevelopmental disorder with central and", "disorder with central and peripheral", "with central and peripheral motor", "central and peripheral motor dysfunction", "nedcpmd" ] }, { "record_id": "MONDO:0032698", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032698", "record_type": "disease", "section": "proteins", "phraselist": [ "o94856", "o94856 1", "nfasc_human", "np_001005388", "glycoprotein", "nfasc", "kiaa0756", "nedcpmd", "nf", "nrcaml" ] }, { "record_id": "MONDO:0032698", "record_type": "disease", "section": "proteins", "phraselist": [ "neurofascin", "homolog", "neurofascin homolog", "isoform", "precursor", "neurofascin isoform", "isoform 1", "1 precursor", "neurofascin isoform 1", "isoform 1 precursor", "neurofascin isoform 1 precursor" ] }, { "record_id": "MONDO:0032703", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032703", "0032703", "mim:618363", "618363" ] }, { "record_id": "MONDO:0032703", "record_type": "disease", "section": "disease_name", "phraselist": [ "short", "stature", "amelogenesis", "imperfecta", "and", "skeletal", "dysplasia", "with", "scoliosis", "short stature", "amelogenesis imperfecta", "and skeletal", "skeletal dysplasia", "dysplasia with", "with scoliosis", "stature amelogenesis", "imperfecta and", "and skeletal dysplasia", "skeletal dysplasia with", "dysplasia with scoliosis", "short stature amelogenesis", "stature amelogenesis imperfecta", "amelogenesis imperfecta and", "imperfecta and skeletal", "and skeletal dysplasia with", "skeletal dysplasia with scoliosis", "short stature amelogenesis imperfecta", "amelogenesis imperfecta and skeletal", "imperfecta and skeletal dysplasia", "and skeletal dysplasia with scoliosis", "ssasks" ] }, { "record_id": "MONDO:0032703", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032703", "record_type": "disease", "section": "proteins", "phraselist": [ "q0ge19", "q0ge19 2", "ntcp7_human", "np_001025169", "slc10a7", "c4orf13", "p7", "psec0051", "ssasks" ] }, { "record_id": "MONDO:0032703", "record_type": "disease", "section": "proteins", "phraselist": [ "sodium/bile", "acid", "cotransporter", "sodium/bile acid", "acid cotransporter", "cotransporter 7", "sodium/bile acid cotransporter", "acid cotransporter 7", "sodium/bile acid cotransporter 7", "na", "/bile", "na +", "+ /bile", "/bile acid", "na + /bile", "+ /bile acid", "/bile acid cotransporter", "na + /bile acid", "+ /bile acid cotransporter", "/bile acid cotransporter 7", "na + /bile acid cotransporter", "+ /bile acid cotransporter 7", "sbf", "domain", "containing", "protein", "sbf domain", "domain containing", "containing protein", "sbf domain containing", "domain containing protein", "sbf domain containing protein", "solute", "carrier", "family", "10", "member", "solute carrier", "carrier family", "family 10", "10 member", "member 7", "solute carrier family", "carrier family 10", "family 10 member", "10 member 7", "solute carrier family 10", "carrier family 10 member", "family 10 member 7", "solute carrier family 10 member", "carrier family 10 member 7", "isoform", "7 isoform", "isoform b", "cotransporter 7 isoform", "7 isoform b", "acid cotransporter 7 isoform", "cotransporter 7 isoform b", "sodium/bile acid cotransporter 7 isoform", "acid cotransporter 7 isoform b", "cotransporter family", "10 sodium/bile", "acid cotransporter family", "family 10 sodium/bile", "10 sodium/bile acid", "sodium/bile acid cotransporter family", "family member", "carrier family 10 sodium/bile", "family 10 sodium/bile acid", "10 sodium/bile acid cotransporter", "cotransporter family member", "family member 7" ] }, { "record_id": "MONDO:0032705", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032705", "0032705", "mim:618367", "618367" ] }, { "record_id": "MONDO:0032705", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "epilepsy", "and", "hypomyelination", "neurodevelopmental disorder", "disorder with", "with microcephaly", "and hypomyelination", "neurodevelopmental disorder with", "disorder with microcephaly", "microcephaly epilepsy", "epilepsy and", "neurodevelopmental disorder with microcephaly", "with microcephaly epilepsy", "epilepsy and hypomyelination", "disorder with microcephaly epilepsy", "microcephaly epilepsy and", "10", "methenyltetrahydrofolate", "synthetase", "deficiency", "5 10", "10 methenyltetrahydrofolate", "methenyltetrahydrofolate synthetase", "synthetase deficiency", "5 10 methenyltetrahydrofolate", "10 methenyltetrahydrofolate synthetase", "methenyltetrahydrofolate synthetase deficiency", "5 10 methenyltetrahydrofolate synthetase", "10 methenyltetrahydrofolate synthetase deficiency", "5 10 methenyltetrahydrofolate synthetase deficiency", "mthfs", "related", "developmental", "delay", "short", "stature", "syndrome", "mthfs related", "related developmental", "developmental delay", "delay microcephaly", "microcephaly short", "short stature", "stature epilepsy", "epilepsy syndrome", "mthfs related developmental", "related developmental delay", "developmental delay microcephaly", "delay microcephaly short", "microcephaly short stature", "short stature epilepsy", "stature epilepsy syndrome", "mthfs related developmental delay", "related developmental delay microcephaly", "developmental delay microcephaly short", "delay microcephaly short stature", "microcephaly short stature epilepsy", "short stature epilepsy syndrome", "mthfs related developmental delay microcephaly", "related developmental delay microcephaly short", "developmental delay microcephaly short stature", "delay microcephaly short stature epilepsy", "microcephaly short stature epilepsy syndrome", "nedmehm" ] }, { "record_id": "MONDO:0032705", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032705", "record_type": "disease", "section": "proteins", "phraselist": [ "p49914", "p49914 1", "mthfs_human", "np_001186687", "mthfs", "hst19268", "nedmehm" ] }, { "record_id": "MONDO:0032705", "record_type": "disease", "section": "proteins", "phraselist": [ "formyltetrahydrofolate", "cyclo", "ligase", "5 formyltetrahydrofolate", "formyltetrahydrofolate cyclo", "cyclo ligase", "5 formyltetrahydrofolate cyclo", "formyltetrahydrofolate cyclo ligase", "5 formyltetrahydrofolate cyclo ligase", "10", "methenyl", "tetrahydrofolate", "synthetase", "5 10", "10 methenyl", "methenyl tetrahydrofolate", "tetrahydrofolate synthetase", "5 10 methenyl", "10 methenyl tetrahydrofolate", "methenyl tetrahydrofolate synthetase", "5 10 methenyl tetrahydrofolate", "10 methenyl tetrahydrofolate synthetase", "5 10 methenyl tetrahydrofolate synthetase", "methenyltetrahydrofolate", "10 methenyltetrahydrofolate", "methenyltetrahydrofolate synthetase", "5 10 methenyltetrahydrofolate", "10 methenyltetrahydrofolate synthetase", "synthetase 5", "5 10 methenyltetrahydrofolate synthetase", "methenyltetrahydrofolate synthetase 5", "synthetase 5 formyltetrahydrofolate", "10 methenyltetrahydrofolate synthetase 5", "methenyltetrahydrofolate synthetase 5 formyltetrahydrofolate", "synthetase 5 formyltetrahydrofolate cyclo", "isoform", "ligase isoform", "isoform b", "cyclo ligase isoform", "ligase isoform b", "formyltetrahydrofolate cyclo ligase isoform", "cyclo ligase isoform b", "5 formyltetrahydrofolate cyclo ligase isoform", "formyltetrahydrofolate cyclo ligase isoform b", "6.3.3.2", "mthfs", "thf", "methenyl thf", "thf synthetase", "methenyl thf synthetase" ] }, { "record_id": "MONDO:0032707", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032707", "0032707", "mim:618371", "618371" ] }, { "record_id": "MONDO:0032707", "record_type": "disease", "section": "disease_name", "phraselist": [ "turnpenny", "fry", "syndrome", "turnpenny fry", "fry syndrome", "turnpenny fry syndrome", "tpfs" ] }, { "record_id": "MONDO:0032707", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032707", "record_type": "disease", "section": "proteins", "phraselist": [ "p35227", "p35227 1", "pcgf2_human", "np_009075", "glycoprotein", "pcgf2", "mel", "18", "mel 18", "mel18", "rnf110", "tpfs", "znf144" ] }, { "record_id": "MONDO:0032707", "record_type": "disease", "section": "proteins", "phraselist": [ "polycomb", "group", "ring", "finger", "protein", "polycomb group", "group ring", "ring finger", "finger protein", "protein 2", "polycomb group ring", "group ring finger", "ring finger protein", "finger protein 2", "polycomb group ring finger", "group ring finger protein", "ring finger protein 2", "polycomb group ring finger protein", "group ring finger protein 2", "dna", "binding", "mel", "18", "dna binding", "binding protein", "protein mel", "mel 18", "dna binding protein", "binding protein mel", "protein mel 18", "dna binding protein mel", "binding protein mel 18", "dna binding protein mel 18", "110", "protein 110", "finger protein 110", "ring finger protein 110", "zinc", "144", "zinc finger", "protein 144", "zinc finger protein", "finger protein 144", "zinc finger protein 144" ] }, { "record_id": "MONDO:0032714", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032714", "0032714", "mim:618381", "618381" ] }, { "record_id": "MONDO:0032714", "record_type": "disease", "section": "disease_name", "phraselist": [ "facial", "dysmorphism", "hypertrichosis", "epilepsy", "intellectual/developmental", "delay", "and", "gingival", "overgrowth", "syndrome", "facial dysmorphism", "intellectual/developmental delay", "and gingival", "gingival overgrowth", "overgrowth syndrome", "dysmorphism hypertrichosis", "hypertrichosis epilepsy", "epilepsy intellectual/developmental", "delay and", "and gingival overgrowth", "gingival overgrowth syndrome", "facial dysmorphism hypertrichosis", "epilepsy intellectual/developmental delay", "intellectual/developmental delay and", "delay and gingival", "and gingival overgrowth syndrome", "dysmorphism hypertrichosis epilepsy", "hypertrichosis epilepsy intellectual/developmental", "intellectual/developmental delay and gingival", "delay and gingival overgrowth", "fheig", "intellectual", "developmental", "intellectual and", "and developmental", "developmental delay", "epilepsy intellectual", "intellectual and developmental", "and developmental delay", "epilepsy intellectual and", "intellectual and developmental delay", "developmental delay and", "hypertrichosis epilepsy intellectual", "epilepsy intellectual and developmental", "and developmental delay and", "developmental delay and gingival" ] }, { "record_id": "MONDO:0032714", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032714", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nyg8", "q9nyg8 1", "kcnk4_human", "np_001304019", "glycoprotein", "kcnk4", "fheig", "k2p4.1", "traak1", "traak" ] }, { "record_id": "MONDO:0032714", "record_type": "disease", "section": "proteins", "phraselist": [ "potassium", "channel", "subfamily", "member", "potassium channel", "channel subfamily", "subfamily k", "k member", "member 4", "potassium channel subfamily", "channel subfamily k", "subfamily k member", "k member 4", "potassium channel subfamily k", "channel subfamily k member", "subfamily k member 4", "potassium channel subfamily k member", "channel subfamily k member 4", "k2p4.1", "k2p4.1 potassium", "k2p4.1 potassium channel", "traak", "twik", "related", "arachidonic", "acid", "stimulated", "protein", "twik related", "related arachidonic", "arachidonic acid", "acid stimulated", "stimulated potassium", "channel protein", "twik related arachidonic", "related arachidonic acid", "arachidonic acid stimulated", "acid stimulated potassium", "stimulated potassium channel", "potassium channel protein", "twik related arachidonic acid", "related arachidonic acid stimulated", "arachidonic acid stimulated potassium", "acid stimulated potassium channel", "stimulated potassium channel protein", "twik related arachidonic acid stimulated", "related arachidonic acid stimulated potassium", "arachidonic acid stimulated potassium channel", "acid stimulated potassium channel protein", "two", "pore", "kt4.1", "two pore", "pore k", "k +", "channel kt4.1", "two pore k", "pore k +", "+ channel", "two pore k +", "k + channel", "+ channel kt4.1", "pore k + channel", "k + channel kt4.1", "pore potassium", "two pore potassium", "pore potassium channel", "potassium channel kt4.1", "two pore potassium channel", "pore potassium channel kt4.1", "two pore potassium channel kt4.1", "domain", "pore domain", "domain subfamily", "channel two", "two pore domain", "pore domain subfamily", "domain subfamily k", "potassium channel two", "channel two pore", "two pore domain subfamily", "pore domain subfamily k", "potassium channel two pore", "channel two pore domain", "two pore domain subfamily k", "domain subfamily k member", "k+", "pore k+", "k+ channel", "two pore k+", "pore k+ channel", "k+ channel kt4.1", "two pore k+ channel", "pore k+ channel kt4.1", "two pore k+ channel kt4.1" ] }, { "record_id": "MONDO:0032716", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032716", "0032716", "mim:618384", "618384" ] }, { "record_id": "MONDO:0032716", "record_type": "disease", "section": "disease_name", "phraselist": [ "leukoencephalopathy", "acute", "reversible", "with", "increased", "urinary", "alpha", "ketoglutarate", "acute reversible", "with increased", "increased urinary", "urinary alpha", "alpha ketoglutarate", "leukoencephalopathy acute", "reversible with", "with increased urinary", "increased urinary alpha", "urinary alpha ketoglutarate", "leukoencephalopathy acute reversible", "acute reversible with", "reversible with increased", "with increased urinary alpha", "increased urinary alpha ketoglutarate", "acute reversible with increased", "reversible with increased urinary", "with increased urinary alpha ketoglutarate", "due", "to", "slc13a3", "deficiency", "reversible leukoencephalopathy", "leukoencephalopathy due", "due to", "to slc13a3", "slc13a3 deficiency", "acute reversible leukoencephalopathy", "reversible leukoencephalopathy due", "leukoencephalopathy due to", "due to slc13a3", "to slc13a3 deficiency", "acute reversible leukoencephalopathy due", "reversible leukoencephalopathy due to", "leukoencephalopathy due to slc13a3", "due to slc13a3 deficiency", "acute reversible leukoencephalopathy due to", "reversible leukoencephalopathy due to slc13a3", "leukoencephalopathy due to slc13a3 deficiency", "sodium", "dependent", "dicarboxylate", "transporter", "to sodium", "sodium dependent", "dependent dicarboxylate", "dicarboxylate transporter", "transporter deficiency", "due to sodium", "to sodium dependent", "sodium dependent dicarboxylate", "dependent dicarboxylate transporter", "dicarboxylate transporter deficiency", "leukoencephalopathy due to sodium", "due to sodium dependent", "to sodium dependent dicarboxylate", "sodium dependent dicarboxylate transporter", "dependent dicarboxylate transporter deficiency", "reversible leukoencephalopathy due to sodium", "leukoencephalopathy due to sodium dependent", "due to sodium dependent dicarboxylate", "to sodium dependent dicarboxylate transporter", "sodium dependent dicarboxylate transporter deficiency", "leukoencephalopathy with", "reversible leukoencephalopathy with", "leukoencephalopathy with increased", "acute reversible leukoencephalopathy with", "reversible leukoencephalopathy with increased", "leukoencephalopathy with increased urinary", "acute reversible leukoencephalopathy with increased", "reversible leukoencephalopathy with increased urinary", "leukoencephalopathy with increased urinary alpha", "arliak" ] }, { "record_id": "MONDO:0032716", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032716", "record_type": "disease", "section": "proteins", "phraselist": [ "q8wwt9", "q8wwt9 1", "s13a3_human", "np_001011554", "glycoprotein", "slc13a3", "arliak", "nadc3", "nac3", "sdct2" ] }, { "record_id": "MONDO:0032716", "record_type": "disease", "section": "proteins", "phraselist": [ "na", "/dicarboxylate", "cotransporter", "na +", "+ /dicarboxylate", "/dicarboxylate cotransporter", "cotransporter 3", "na + /dicarboxylate", "+ /dicarboxylate cotransporter", "/dicarboxylate cotransporter 3", "na + /dicarboxylate cotransporter", "+ /dicarboxylate cotransporter 3", "na + /dicarboxylate cotransporter 3", "coupled", "carboxylate", "transporter", "coupled carboxylate", "carboxylate transporter", "transporter 3", "+ coupled", "coupled carboxylate transporter", "carboxylate transporter 3", "na + coupled", "+ coupled carboxylate", "coupled carboxylate transporter 3", "na + coupled carboxylate", "+ coupled carboxylate transporter", "isoform", "3 isoform", "isoform b", "cotransporter 3 isoform", "3 isoform b", "/dicarboxylate cotransporter 3 isoform", "cotransporter 3 isoform b", "+ /dicarboxylate cotransporter 3 isoform", "/dicarboxylate cotransporter 3 isoform b", "nac3", "nadc", "nadc 3", "slc13a3", "sodium", "dependent", "high", "affinity", "dicarboxylate", "sodium dependent", "dependent high", "high affinity", "affinity dicarboxylate", "dicarboxylate transporter", "transporter 2", "sodium dependent high", "dependent high affinity", "high affinity dicarboxylate", "affinity dicarboxylate transporter", "dicarboxylate transporter 2", "sodium dependent high affinity", "dependent high affinity dicarboxylate", "high affinity dicarboxylate transporter", "affinity dicarboxylate transporter 2", "sodium dependent high affinity dicarboxylate", "dependent high affinity dicarboxylate transporter", "high affinity dicarboxylate transporter 2", "solute", "carrier", "family", "13", "member", "solute carrier", "carrier family", "family 13", "13 member", "member 3", "solute carrier family", "carrier family 13", "family 13 member", "13 member 3", "solute carrier family 13", "carrier family 13 member", "family 13 member 3", "solute carrier family 13 member", "carrier family 13 member 3", "hnadc3", "dicarboxylate transporter 3", "affinity dicarboxylate transporter 3", "high affinity dicarboxylate transporter 3" ] }, { "record_id": "MONDO:0032733", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032733", "0032733", "mim:618412", "618412" ] }, { "record_id": "MONDO:0032733", "record_type": "disease", "section": "disease_name", "phraselist": [ "global", "developmental", "delay", "progressive", "ataxia", "and", "elevated", "glutamine", "global developmental", "developmental delay", "progressive ataxia", "and elevated", "elevated glutamine", "global developmental delay", "delay progressive", "ataxia and", "and elevated glutamine", "developmental delay progressive", "delay progressive ataxia", "progressive ataxia and", "ataxia and elevated", "global developmental delay progressive", "developmental delay progressive ataxia", "progressive ataxia and elevated", "ataxia and elevated glutamine", "gdpag" ] }, { "record_id": "MONDO:0032733", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032733", "record_type": "disease", "section": "proteins", "phraselist": [ "o94925", "o94925 1", "glsk_human", "np_001243239", "glycoprotein", "gls", "aad20", "casgid", "dee71", "eiee71", "gac", "gam", "gdpag", "gls1", "kga", "kiaa0838" ] }, { "record_id": "MONDO:0032733", "record_type": "disease", "section": "proteins", "phraselist": [ "glutaminase", "kidney", "isoform", "mitochondrial", "glutaminase kidney", "kidney isoform", "glutaminase kidney isoform", "isoform mitochondrial", "kidney isoform mitochondrial", "glutaminase kidney isoform mitochondrial", "3.5.1.2", "gls", "k glutaminase", "glutamine", "amidohydrolase", "l glutamine", "glutamine amidohydrolase", "l glutamine amidohydrolase", "glutaminase c", "mitochondrial isoform", "isoform 2", "mitochondrial isoform 2", "isoform mitochondrial isoform", "kidney isoform mitochondrial isoform", "isoform mitochondrial isoform 2", "phosphate", "activated", "phosphate activated", "glutaminase phosphate", "glutaminase phosphate activated" ] }, { "record_id": "MONDO:0032736", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032736", "0032736", "mim:618416", "618416" ] }, { "record_id": "MONDO:0032736", "record_type": "disease", "section": "disease_name", "phraselist": [ "metabolic", "crises", "recurrent", "with", "variable", "encephalomyopathic", "features", "and", "neurologic", "regression", "metabolic crises", "with variable", "variable encephalomyopathic", "encephalomyopathic features", "features and", "and neurologic", "neurologic regression", "crises recurrent", "recurrent with", "with variable encephalomyopathic", "variable encephalomyopathic features", "encephalomyopathic features and", "features and neurologic", "and neurologic regression", "metabolic crises recurrent", "recurrent with variable", "with variable encephalomyopathic features", "variable encephalomyopathic features and", "encephalomyopathic features and neurologic", "features and neurologic regression", "crises recurrent with", "recurrent with variable encephalomyopathic", "with variable encephalomyopathic features and", "variable encephalomyopathic features and neurologic", "encephalomyopathic features and neurologic regression", "mecren" ] }, { "record_id": "MONDO:0032736", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032736", "record_type": "disease", "section": "proteins", "phraselist": [ "q86vd7", "q86vd7 1", "s2542_human", "np_001308473", "glycoprotein", "slc25a42", "mecren" ] }, { "record_id": "MONDO:0032736", "record_type": "disease", "section": "proteins", "phraselist": [ "mitochondrial", "coenzyme", "transporter", "slc25a42", "mitochondrial coenzyme", "coenzyme a", "a transporter", "transporter slc25a42", "mitochondrial coenzyme a", "coenzyme a transporter", "a transporter slc25a42", "mitochondrial coenzyme a transporter", "coenzyme a transporter slc25a42", "mitochondrial coenzyme a transporter slc25a42", "solute", "carrier", "family", "25", "member", "42", "solute carrier", "carrier family", "family 25", "25 member", "member 42", "solute carrier family", "carrier family 25", "family 25 member", "25 member 42", "solute carrier family 25", "carrier family 25 member", "family 25 member 42", "solute carrier family 25 member", "carrier family 25 member 42" ] }, { "record_id": "MONDO:0032738", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032738", "0032738", "mim:618419", "618419" ] }, { "record_id": "MONDO:0032738", "record_type": "disease", "section": "disease_name", "phraselist": [ "gonadal", "dysgenesis", "dysmorphic", "facies", "retinal", "dystrophy", "and", "myopathy", "gonadal dysgenesis", "dysmorphic facies", "retinal dystrophy", "and myopathy", "dysgenesis dysmorphic", "facies retinal", "dystrophy and", "gonadal dysgenesis dysmorphic", "dysgenesis dysmorphic facies", "dysmorphic facies retinal", "facies retinal dystrophy", "retinal dystrophy and", "dystrophy and myopathy", "gonadal dysgenesis dysmorphic facies", "dysmorphic facies retinal dystrophy", "retinal dystrophy and myopathy", "kennerknecht", "syndrome", "kennerknecht syndrome", "agonadism", "46", "xy", "with", "intellectual", "disability", "short", "stature", "retarded", "bone", "age", "multiple", "extragenital", "malformations", "46 xy", "with intellectual", "intellectual disability", "short stature", "retarded bone", "bone age", "and multiple", "multiple extragenital", "extragenital malformations", "agonadism 46", "xy with", "with intellectual disability", "disability short", "stature retarded", "retarded bone age", "age and", "and multiple extragenital", "multiple extragenital malformations", "agonadism 46 xy", "46 xy with", "xy with intellectual", "intellectual disability short", "disability short stature", "short stature retarded", "stature retarded bone", "bone age and", "age and multiple", "and multiple extragenital malformations", "46 xy with intellectual", "xy with intellectual disability", "with intellectual disability short", "intellectual disability short stature", "short stature retarded bone", "stature retarded bone age", "retarded bone age and", "bone age and multiple", "age and multiple extragenital", "mental", "retardation", "with mental", "mental retardation", "with mental retardation", "retardation short", "xy with mental", "mental retardation short", "retardation short stature", "46 xy with mental", "xy with mental retardation", "with mental retardation short", "mental retardation short stature", "gdrm", "myoectodermal", "myoectodermal gonadal", "dysgenesis syndrome", "myoectodermal gonadal dysgenesis", "gonadal dysgenesis syndrome", "myoectodermal gonadal dysgenesis syndrome" ] }, { "record_id": "MONDO:0032738", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032738", "record_type": "disease", "section": "proteins", "phraselist": [ "q969q6", "q969q6 1", "p2r3c_human", "np_001292084", "ppp2r3c", "c14orf10", "g4", "g4 1", "g5pr", "gdrm", "megd", "spgf36" ] }, { "record_id": "MONDO:0032738", "record_type": "disease", "section": "proteins", "phraselist": [ "serine/threonine", "protein", "phosphatase", "2a", "regulatory", "subunit", "b''", "gamma", "serine/threonine protein", "protein phosphatase", "phosphatase 2a", "2a regulatory", "regulatory subunit", "subunit b''", "b'' subunit", "subunit gamma", "serine/threonine protein phosphatase", "protein phosphatase 2a", "phosphatase 2a regulatory", "2a regulatory subunit", "regulatory subunit b''", "subunit b'' subunit", "b'' subunit gamma", "serine/threonine protein phosphatase 2a", "protein phosphatase 2a regulatory", "phosphatase 2a regulatory subunit", "2a regulatory subunit b''", "regulatory subunit b'' subunit", "subunit b'' subunit gamma", "serine/threonine protein phosphatase 2a regulatory", "protein phosphatase 2a regulatory subunit", "phosphatase 2a regulatory subunit b''", "2a regulatory subunit b'' subunit", "regulatory subunit b'' subunit gamma", "g5pr", "phosphatase subunit", "subunit g5pr", "protein phosphatase subunit", "phosphatase subunit g5pr", "protein phosphatase subunit g5pr", "rhabdomyosarcoma", "antigen", "mu", "rms", "40.6a/6c", "rhabdomyosarcoma antigen", "antigen mu", "mu rms", "rms 40.6a/6c", "rhabdomyosarcoma antigen mu", "antigen mu rms", "mu rms 40.6a/6c", "rhabdomyosarcoma antigen mu rms", "antigen mu rms 40.6a/6c", "rhabdomyosarcoma antigen mu rms 40.6a/6c", "formerly", "phosphatase 2", "formerly 2a", "protein phosphatase 2", "2 formerly", "phosphatase 2 formerly", "2 formerly 2a", "protein phosphatase 2 formerly", "phosphatase 2 formerly 2a", "formerly 2a regulatory", "2 regulatory", "b'' gamma", "phosphatase 2 regulatory", "2 regulatory subunit", "subunit b'' gamma", "protein phosphatase 2 regulatory", "phosphatase 2 regulatory subunit", "2 regulatory subunit b''", "regulatory subunit b'' gamma", "40.6a", "rms 40.6a", "mu rms 40.6a", "antigen mu rms 40.6a", "rhabdomyosarcoma antigen mu rms 40.6a", "40.6c", "rms 40.6c", "mu rms 40.6c", "antigen mu rms 40.6c", "rhabdomyosarcoma antigen mu rms 40.6c", "isoform", "gamma isoform", "isoform 2", "subunit gamma isoform", "gamma isoform 2", "b'' subunit gamma isoform", "subunit gamma isoform 2", "subunit b'' subunit gamma isoform", "b'' subunit gamma isoform 2" ] }, { "record_id": "MONDO:0032741", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032741", "0032741", "mim:618425", "618425" ] }, { "record_id": "MONDO:0032741", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "impaired", "speech", "and", "hyperkinetic", "movements", "neurodevelopmental disorder", "disorder with", "with impaired", "impaired speech", "speech and", "and hyperkinetic", "hyperkinetic movements", "neurodevelopmental disorder with", "disorder with impaired", "with impaired speech", "impaired speech and", "speech and hyperkinetic", "and hyperkinetic movements", "neurodevelopmental disorder with impaired", "disorder with impaired speech", "with impaired speech and", "impaired speech and hyperkinetic", "speech and hyperkinetic movements", "neurodevelopmental disorder with impaired speech", "disorder with impaired speech and", "with impaired speech and hyperkinetic", "impaired speech and hyperkinetic movements", "nedishm" ] }, { "record_id": "MONDO:0032741", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032741", "record_type": "disease", "section": "proteins", "phraselist": [ "p52746", "p52746 1", "zn142_human", "np_001099007", "glycoprotein", "znf142", "ha4654", "kiaa0236", "nedishm", "phz", "49", "phz 49" ] }, { "record_id": "MONDO:0032741", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "protein", "142", "zinc finger", "finger protein", "protein 142", "zinc finger protein", "finger protein 142", "zinc finger protein 142", "clone", "phz", "49", "clone phz", "phz 49", "142 clone", "clone phz 49", "protein 142 clone", "142 clone phz", "finger protein 142 clone", "protein 142 clone phz", "142 clone phz 49", "isoform", "142 isoform", "isoform 1", "protein 142 isoform", "142 isoform 1", "finger protein 142 isoform", "protein 142 isoform 1", "zinc finger protein 142 isoform", "finger protein 142 isoform 1" ] }, { "record_id": "MONDO:0032742", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032742", "0032742", "mim:618426", "618426" ] }, { "record_id": "MONDO:0032742", "record_type": "disease", "section": "disease_name", "phraselist": [ "encephalopathy", "acute", "infection", "induced", "susceptibility", "to", "infection induced", "susceptibility to", "encephalopathy acute", "acute infection", "induced susceptibility", "to 9", "acute infection induced", "infection induced susceptibility", "induced susceptibility to", "susceptibility to 9", "encephalopathy acute infection", "infection induced susceptibility to", "iiae9", "induced 9", "infection induced 9" ] }, { "record_id": "MONDO:0032742", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032742", "record_type": "disease", "section": "proteins", "phraselist": [ "p35658", "p35658 1", "nu214_human", "np_001305253", "glycoprotein", "nup214", "cain", "can", "iiae9", "kiaa0023" ] }, { "record_id": "MONDO:0032742", "record_type": "disease", "section": "proteins", "phraselist": [ "nuclear", "pore", "complex", "protein", "nup214", "nuclear pore", "pore complex", "complex protein", "protein nup214", "nuclear pore complex", "pore complex protein", "complex protein nup214", "nuclear pore complex protein", "pore complex protein nup214", "nuclear pore complex protein nup214", "214", "kda", "nucleoporin", "214 kda", "kda nucleoporin", "214 kda nucleoporin", "can", "putative", "oncogene", "can protein", "putative oncogene", "protein putative", "can protein putative", "protein putative oncogene", "can protein putative oncogene", "nucleoporin nup214", "protein can", "isoform", "nup214 isoform", "isoform 3", "protein nup214 isoform", "nup214 isoform 3", "complex protein nup214 isoform", "protein nup214 isoform 3", "pore complex protein nup214 isoform", "complex protein nup214 isoform 3", "214kda", "nucleoporin 214kda" ] }, { "record_id": "MONDO:0032745", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032745", "0032745", "mim:618430", "618430" ] }, { "record_id": "MONDO:0032745", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "delay", "with", "variable", "intellectual", "impairment", "and", "behavioral", "abnormalities", "developmental delay", "delay with", "with variable", "variable intellectual", "intellectual impairment", "impairment and", "and behavioral", "behavioral abnormalities", "developmental delay with", "delay with variable", "with variable intellectual", "variable intellectual impairment", "intellectual impairment and", "impairment and behavioral", "and behavioral abnormalities", "developmental delay with variable", "delay with variable intellectual", "with variable intellectual impairment", "variable intellectual impairment and", "intellectual impairment and behavioral", "impairment and behavioral abnormalities", "developmental delay with variable intellectual", "delay with variable intellectual impairment", "with variable intellectual impairment and", "variable intellectual impairment and behavioral", "intellectual impairment and behavioral abnormalities", "ddviba", "tcf20", "related", "disorder", "tcf20 related", "related disorder", "tcf20 related disorder", "syndrome", "related syndrome", "tcf20 related syndrome" ] }, { "record_id": "MONDO:0032745", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032745", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ugu0", "q9ugu0 1", "tcf20_human", "np_005641", "glycoprotein", "tcf20", "ar1", "ddviba", "kiaa0292", "spbp", "tcf", "20", "tcf 20" ] }, { "record_id": "MONDO:0032745", "record_type": "disease", "section": "proteins", "phraselist": [ "transcription", "factor", "20", "transcription factor", "factor 20", "transcription factor 20", "nuclear", "spbp", "nuclear factor", "factor spbp", "nuclear factor spbp", "protein", "ar1", "protein ar1", "spre", "binding", "spre binding", "binding protein", "spre binding protein", "stromelysin", "pdgf", "responsive", "element", "stromelysin 1", "1 pdgf", "pdgf responsive", "responsive element", "element binding", "stromelysin 1 pdgf", "1 pdgf responsive", "pdgf responsive element", "responsive element binding", "element binding protein", "stromelysin 1 pdgf responsive", "1 pdgf responsive element", "pdgf responsive element binding", "responsive element binding protein", "stromelysin 1 pdgf responsive element", "1 pdgf responsive element binding", "pdgf responsive element binding protein", "tcf", "tcf 20", "platelet", "derived", "growth", "1 platelet", "platelet derived", "derived growth", "growth factor", "factor responsive", "stromelysin 1 platelet", "1 platelet derived", "platelet derived growth", "derived growth factor", "growth factor responsive", "factor responsive element", "stromelysin 1 platelet derived", "1 platelet derived growth", "platelet derived growth factor", "derived growth factor responsive", "growth factor responsive element", "factor responsive element binding", "stromelysin 1 platelet derived growth", "1 platelet derived growth factor", "platelet derived growth factor responsive", "derived growth factor responsive element", "growth factor responsive element binding", "factor responsive element binding protein", "isoform", "20 isoform", "isoform 1", "factor 20 isoform", "20 isoform 1", "transcription factor 20 isoform", "factor 20 isoform 1", "transcription factor 20 isoform 1" ] }, { "record_id": "MONDO:0032746", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032746", "0032746", "mim:618431", "618431" ] }, { "record_id": "MONDO:0032746", "record_type": "disease", "section": "disease_name", "phraselist": [ "hydatidiform", "mole", "recurrent", "hydatidiform mole", "mole recurrent", "recurrent 3", "hydatidiform mole recurrent", "mole recurrent 3", "hydm3" ] }, { "record_id": "MONDO:0032746", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032746", "record_type": "disease", "section": "proteins", "phraselist": [ "q5tia1", "q5tia1 1", "mei1_human", "np_689726", "glycoprotein", "mei1", "hydm3", "spata38" ] }, { "record_id": "MONDO:0032746", "record_type": "disease", "section": "proteins", "phraselist": [ "meiosis", "inhibitor", "protein", "meiosis inhibitor", "inhibitor protein", "protein 1", "meiosis inhibitor protein", "inhibitor protein 1", "meiosis inhibitor protein 1", "defective", "meiosis defective", "defective protein", "meiosis defective protein", "defective protein 1", "meiosis defective protein 1", "defective 1", "meiosis defective 1", "inhibitor 1", "meiosis inhibitor 1", "spermatogenesis", "associated", "38", "spermatogenesis associated", "associated 38", "spermatogenesis associated 38" ] }, { "record_id": "MONDO:0032747", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032747", "0032747", "mim:618432", "618432" ] }, { "record_id": "MONDO:0032747", "record_type": "disease", "section": "disease_name", "phraselist": [ "hydatidiform", "mole", "recurrent", "hydatidiform mole", "mole recurrent", "recurrent 4", "hydatidiform mole recurrent", "mole recurrent 4", "hydm4" ] }, { "record_id": "MONDO:0032747", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032747", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n6t0", "q8n6t0 6", "to6bl_human", "np_001289013", "top6bl", "c11orf80", "hydm4", "topovibl" ] }, { "record_id": "MONDO:0032747", "record_type": "disease", "section": "proteins", "phraselist": [ "type", "dna", "topoisomerase", "subunit", "like", "type 2", "2 dna", "dna topoisomerase", "topoisomerase 6", "6 subunit", "subunit b", "b like", "type 2 dna", "2 dna topoisomerase", "dna topoisomerase 6", "topoisomerase 6 subunit", "6 subunit b", "subunit b like", "type 2 dna topoisomerase", "2 dna topoisomerase 6", "dna topoisomerase 6 subunit", "topoisomerase 6 subunit b", "6 subunit b like", "type 2 dna topoisomerase 6", "2 dna topoisomerase 6 subunit", "dna topoisomerase 6 subunit b", "topoisomerase 6 subunit b like", "top6b", "initiator", "of", "meiotic", "double", "strand", "breaks", "top6b like", "like initiator", "initiator of", "of meiotic", "meiotic double", "double strand", "strand breaks", "top6b like initiator", "like initiator of", "initiator of meiotic", "of meiotic double", "meiotic double strand", "double strand breaks", "top6b like initiator of", "like initiator of meiotic", "initiator of meiotic double", "of meiotic double strand", "meiotic double strand breaks", "top6b like initiator of meiotic", "like initiator of meiotic double", "initiator of meiotic double strand", "of meiotic double strand breaks", "topovibl", "vi", "topoisomerase vi", "vi subunit", "dna topoisomerase vi", "topoisomerase vi subunit", "vi subunit b", "2 dna topoisomerase vi", "dna topoisomerase vi subunit", "topoisomerase vi subunit b", "vi subunit b like", "type 2 dna topoisomerase vi", "2 dna topoisomerase vi subunit", "dna topoisomerase vi subunit b", "topoisomerase vi subunit b like", "isoform", "like isoform", "isoform b", "b like isoform", "like isoform b", "subunit b like isoform", "b like isoform b", "6 subunit b like isoform", "subunit b like isoform b" ] }, { "record_id": "MONDO:0032753", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032753", "0032753", "mim:618438", "618438" ] }, { "record_id": "MONDO:0032753", "record_type": "disease", "section": "disease_name", "phraselist": [ "spastic", "ataxia", "autosomal", "recessive", "spastic ataxia", "ataxia 9", "autosomal recessive", "spastic ataxia 9", "9 autosomal", "ataxia 9 autosomal", "9 autosomal recessive", "spastic ataxia 9 autosomal", "ataxia 9 autosomal recessive", "spax9" ] }, { "record_id": "MONDO:0032753", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032753", "record_type": "disease", "section": "proteins", "phraselist": [ "q99653", "q99653 1", "chp1_human", "np_009167", "glycoprotein", "chp1", "chp", "slc9a1bp", "spax9", "sid470p", "p22", "p24" ] }, { "record_id": "MONDO:0032753", "record_type": "disease", "section": "proteins", "phraselist": [ "calcineurin", "homologous", "protein", "calcineurin b", "b homologous", "homologous protein", "protein 1", "calcineurin b homologous", "b homologous protein", "homologous protein 1", "calcineurin b homologous protein", "b homologous protein 1", "calcineurin b homologous protein 1", "like", "b like", "like protein", "calcineurin b like", "b like protein", "calcineurin b like protein", "calcium", "binding", "chp", "calcium binding", "binding protein", "protein chp", "calcium binding protein", "binding protein chp", "calcium binding protein chp", "p22", "protein p22", "binding protein p22", "calcium binding protein p22", "ef", "hand", "domain", "containing", "ef hand", "hand calcium", "binding domain", "domain containing", "containing protein", "ef hand calcium", "hand calcium binding", "calcium binding domain", "binding domain containing", "domain containing protein", "containing protein p22", "ef hand calcium binding", "hand calcium binding domain", "calcium binding domain containing", "binding domain containing protein", "domain containing protein p22", "ef hand calcium binding domain", "hand calcium binding domain containing", "calcium binding domain containing protein", "binding domain containing protein p22", "slc9a1", "slc9a1 binding", "slc9a1 binding protein", "homolog", "b homolog", "calcineurin b homolog", "calcineurin homologous", "calcineurin homologous protein" ] }, { "record_id": "MONDO:0032755", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032755", "0032755", "mim:618443", "618443" ] }, { "record_id": "MONDO:0032755", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "or", "without", "variable", "brain", "abnormalities", "nedba", "neurodevelopmental disorder", "disorder with", "with or", "or without", "without variable", "variable brain", "brain abnormalities", "neurodevelopmental disorder with", "disorder with or", "with or without", "or without variable", "without variable brain", "variable brain abnormalities", "abnormalities nedba", "neurodevelopmental disorder with or", "disorder with or without", "with or without variable", "or without variable brain", "without variable brain abnormalities", "brain abnormalities nedba", "neurodevelopmental disorder with or without", "disorder with or without variable", "with or without variable brain", "or without variable brain abnormalities", "variable brain abnormalities nedba" ] }, { "record_id": "MONDO:0032755", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032755", "record_type": "disease", "section": "proteins", "phraselist": [ "q9upt6", "q9upt6 1", "jip3_human", "np_001035529", "glycoprotein", "mapk8ip3", "jip", "jip 3", "jip3", "jsap1", "kiaa1066", "nedba", "syd2", "syd" ] }, { "record_id": "MONDO:0032755", "record_type": "disease", "section": "proteins", "phraselist": [ "jun", "amino", "terminal", "kinase", "interacting", "protein", "c jun", "jun amino", "amino terminal", "terminal kinase", "kinase interacting", "interacting protein", "protein 3", "c jun amino", "jun amino terminal", "amino terminal kinase", "terminal kinase interacting", "kinase interacting protein", "interacting protein 3", "c jun amino terminal", "jun amino terminal kinase", "amino terminal kinase interacting", "terminal kinase interacting protein", "kinase interacting protein 3", "c jun amino terminal kinase", "jun amino terminal kinase interacting", "amino terminal kinase interacting protein", "terminal kinase interacting protein 3", "isoform", "3 isoform", "isoform 2", "protein 3 isoform", "3 isoform 2", "interacting protein 3 isoform", "protein 3 isoform 2", "kinase interacting protein 3 isoform", "interacting protein 3 isoform 2", "jip", "jip 3", "jnk", "map", "scaffold", "jnk map", "map kinase", "kinase scaffold", "scaffold protein", "jnk map kinase", "map kinase scaffold", "kinase scaffold protein", "scaffold protein 3", "jnk map kinase scaffold", "map kinase scaffold protein", "kinase scaffold protein 3", "jnk map kinase scaffold protein", "map kinase scaffold protein 3", "jnk interacting", "jnk interacting protein", "jnk interacting protein 3", "jnk/sapk", "associated", "jnk/sapk associated", "associated protein", "protein 1", "jnk/sapk associated protein", "associated protein 1", "jnk/sapk associated protein 1", "jnk/stress", "activated", "jnk/stress activated", "activated protein", "protein kinase", "kinase associated", "jnk/stress activated protein", "activated protein kinase", "protein kinase associated", "kinase associated protein", "jnk/stress activated protein kinase", "activated protein kinase associated", "protein kinase associated protein", "kinase associated protein 1", "jnk/stress activated protein kinase associated", "activated protein kinase associated protein", "protein kinase associated protein 1", "mitogen", "mitogen activated", "kinase 8", "8 interacting", "mitogen activated protein", "protein kinase 8", "kinase 8 interacting", "8 interacting protein", "mitogen activated protein kinase", "activated protein kinase 8", "protein kinase 8 interacting", "kinase 8 interacting protein", "8 interacting protein 3", "mitogen activated protein kinase 8", "activated protein kinase 8 interacting", "protein kinase 8 interacting protein", "kinase 8 interacting protein 3", "homolog", "of", "drosophila", "sunday", "driver", "homolog of", "of drosophila", "drosophila sunday", "sunday driver", "driver 2", "homolog of drosophila", "of drosophila sunday", "drosophila sunday driver", "sunday driver 2", "homolog of drosophila sunday", "of drosophila sunday driver", "drosophila sunday driver 2", "homolog of drosophila sunday driver", "of drosophila sunday driver 2" ] }, { "record_id": "MONDO:0032758", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032758", "0032758", "mim:618451", "618451" ] }, { "record_id": "MONDO:0032758", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodegeneration", "early", "onset", "with", "choreoathetoid", "movements", "and", "microcytic", "anemia", "early onset", "with choreoathetoid", "choreoathetoid movements", "movements and", "and microcytic", "microcytic anemia", "neurodegeneration early", "onset with", "with choreoathetoid movements", "choreoathetoid movements and", "movements and microcytic", "and microcytic anemia", "neurodegeneration early onset", "early onset with", "onset with choreoathetoid", "with choreoathetoid movements and", "choreoathetoid movements and microcytic", "movements and microcytic anemia", "early onset with choreoathetoid", "onset with choreoathetoid movements", "with choreoathetoid movements and microcytic", "choreoathetoid movements and microcytic anemia", "ndcama" ] }, { "record_id": "MONDO:0032758", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032758", "record_type": "disease", "section": "proteins", "phraselist": [ "p48200", "p48200 1", "ireb2_human", "np_001307872", "glycoprotein", "ireb2", "aco3", "ire", "bp", "ire bp", "bp 2", "ire bp 2", "bp2", "ire bp2", "irp2ad", "irp2", "ndcama" ] }, { "record_id": "MONDO:0032758", "record_type": "disease", "section": "proteins", "phraselist": [ "iron", "responsive", "element", "binding", "protein", "iron responsive", "responsive element", "element binding", "binding protein", "protein 2", "iron responsive element", "responsive element binding", "element binding protein", "binding protein 2", "iron responsive element binding", "responsive element binding protein", "element binding protein 2", "iron responsive element binding protein", "responsive element binding protein 2", "ire", "bp", "ire bp", "bp 2", "ire bp 2", "irp2", "regulatory", "iron regulatory", "regulatory protein", "iron regulatory protein", "regulatory protein 2", "iron regulatory protein 2", "isoform", "2 isoform", "isoform 4", "protein 2 isoform", "2 isoform 4", "binding protein 2 isoform", "protein 2 isoform 4", "element binding protein 2 isoform", "binding protein 2 isoform 4" ] }, { "record_id": "MONDO:0032759", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032759", "0032759", "mim:618453", "618453" ] }, { "record_id": "MONDO:0032759", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "short", "stature", "and", "variable", "skeletal", "anomalies", "intellectual developmental", "developmental disorder", "disorder with", "with short", "short stature", "stature and", "and variable", "variable skeletal", "skeletal anomalies", "intellectual developmental disorder", "developmental disorder with", "disorder with short", "with short stature", "short stature and", "stature and variable", "and variable skeletal", "variable skeletal anomalies", "intellectual developmental disorder with", "developmental disorder with short", "disorder with short stature", "with short stature and", "short stature and variable", "stature and variable skeletal", "and variable skeletal anomalies", "intellectual developmental disorder with short", "developmental disorder with short stature", "disorder with short stature and", "with short stature and variable", "short stature and variable skeletal", "stature and variable skeletal anomalies", "iddssa" ] }, { "record_id": "MONDO:0032759", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032759", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y4p8", "q9y4p8 1", "wipi2_human", "np_001028690", "glycoprotein", "wipi2", "atg18b", "atg21", "cgi", "50", "cgi 50", "iddssa", "wipi", "wipi 2" ] }, { "record_id": "MONDO:0032759", "record_type": "disease", "section": "proteins", "phraselist": [ "wd", "repeat", "domain", "phosphoinositide", "interacting", "protein", "wd repeat", "repeat domain", "domain phosphoinositide", "phosphoinositide interacting", "interacting protein", "protein 2", "wd repeat domain", "repeat domain phosphoinositide", "domain phosphoinositide interacting", "phosphoinositide interacting protein", "interacting protein 2", "wd repeat domain phosphoinositide", "repeat domain phosphoinositide interacting", "domain phosphoinositide interacting protein", "phosphoinositide interacting protein 2", "wd repeat domain phosphoinositide interacting", "repeat domain phosphoinositide interacting protein", "domain phosphoinositide interacting protein 2", "isoform", "2 isoform", "isoform c", "protein 2 isoform", "2 isoform c", "interacting protein 2 isoform", "protein 2 isoform c", "phosphoinositide interacting protein 2 isoform", "interacting protein 2 isoform c", "wd40", "with", "phosphoinositides", "wd40 repeat", "repeat protein", "protein interacting", "interacting with", "with phosphoinositides", "phosphoinositides 2", "wd40 repeat protein", "repeat protein interacting", "protein interacting with", "interacting with phosphoinositides", "with phosphoinositides 2", "wd40 repeat protein interacting", "repeat protein interacting with", "protein interacting with phosphoinositides", "interacting with phosphoinositides 2", "wd40 repeat protein interacting with", "repeat protein interacting with phosphoinositides", "protein interacting with phosphoinositides 2", "wipi", "wipi 2", "wipi49", "like", "wipi49 like", "like protein", "wipi49 like protein", "like protein 2", "wipi49 like protein 2" ] }, { "record_id": "MONDO:0032760", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032760", "0032760", "mim:618454", "618454" ] }, { "record_id": "MONDO:0032760", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "delay", "with", "or", "without", "dysmorphic", "facies", "and", "autism", "developmental delay", "delay with", "with or", "or without", "without dysmorphic", "dysmorphic facies", "facies and", "and autism", "developmental delay with", "delay with or", "with or without", "or without dysmorphic", "without dysmorphic facies", "dysmorphic facies and", "facies and autism", "developmental delay with or", "delay with or without", "with or without dysmorphic", "or without dysmorphic facies", "without dysmorphic facies and", "dysmorphic facies and autism", "developmental delay with or without", "delay with or without dysmorphic", "with or without dysmorphic facies", "or without dysmorphic facies and", "without dysmorphic facies and autism", "deddfa" ] }, { "record_id": "MONDO:0032760", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032760", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y4a5", "q9y4a5 1", "trrap_human", "np_001231509", "glycoprotein", "trrap", "deddfa", "dfna75", "paf350/400", "paf400", "staf40", "tr", "ap", "tr ap", "tra1" ] }, { "record_id": "MONDO:0032760", "record_type": "disease", "section": "proteins", "phraselist": [ "transformation/transcription", "domain", "associated", "protein", "transformation/transcription domain", "domain associated", "associated protein", "transformation/transcription domain associated", "domain associated protein", "transformation/transcription domain associated protein", "350/400", "kda", "pcaf", "factor", "350/400 kda", "kda pcaf", "pcaf associated", "associated factor", "350/400 kda pcaf", "kda pcaf associated", "pcaf associated factor", "350/400 kda pcaf associated", "kda pcaf associated factor", "350/400 kda pcaf associated factor", "paf350/400", "staf40", "tra1", "homolog", "tra1 homolog", "isoform", "protein isoform", "isoform 1", "associated protein isoform", "protein isoform 1", "domain associated protein isoform", "associated protein isoform 1", "transformation/transcription domain associated protein isoform", "domain associated protein isoform 1" ] }, { "record_id": "MONDO:0032764", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032764", "0032764", "mim:618460", "618460" ] }, { "record_id": "MONDO:0032764", "record_type": "disease", "section": "disease_name", "phraselist": [ "khan", "katsanis", "syndrome", "khan khan", "khan katsanis", "katsanis syndrome", "khan khan katsanis", "khan katsanis syndrome", "khan khan katsanis syndrome", "3ks" ] }, { "record_id": "MONDO:0032764", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032764", "record_type": "disease", "section": "proteins", "phraselist": [ "q86xi2", "q86xi2 1", "cndg2_human", "np_001268861", "glycoprotein", "ncapg2", "3ks", "cap", "g2", "cap g2", "capg2", "luzp5", "mtb", "hcap", "hcap g2" ] }, { "record_id": "MONDO:0032764", "record_type": "disease", "section": "proteins", "phraselist": [ "condensin", "complex", "subunit", "g2", "condensin 2", "2 complex", "complex subunit", "subunit g2", "condensin 2 complex", "2 complex subunit", "complex subunit g2", "condensin 2 complex subunit", "2 complex subunit g2", "condensin 2 complex subunit g2", "cap", "cap g2", "chromosome", "associated", "protein", "chromosome associated", "associated protein", "protein g2", "chromosome associated protein", "associated protein g2", "chromosome associated protein g2", "leucine", "zipper", "leucine zipper", "zipper protein", "protein 5", "leucine zipper protein", "zipper protein 5", "leucine zipper protein 5", "non", "smc", "ii", "non smc", "smc condensin", "condensin ii", "ii complex", "non smc condensin", "smc condensin ii", "condensin ii complex", "ii complex subunit", "non smc condensin ii", "smc condensin ii complex", "condensin ii complex subunit", "ii complex subunit g2", "non smc condensin ii complex", "smc condensin ii complex subunit", "condensin ii complex subunit g2", "isoform", "g2 isoform", "isoform a", "subunit g2 isoform", "g2 isoform a", "complex subunit g2 isoform", "subunit g2 isoform a", "2 complex subunit g2 isoform", "complex subunit g2 isoform a", "hcap", "hcap g2", "more", "than", "blood", "homolog", "more than", "than blood", "blood homolog", "more than blood", "than blood homolog", "more than blood homolog" ] }, { "record_id": "MONDO:0032765", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032765", "0032765", "mim:618462", "618462" ] }, { "record_id": "MONDO:0032765", "record_type": "disease", "section": "disease_name", "phraselist": [ "bleeding", "disorder", "platelet", "type", "22", "bleeding disorder", "platelet type", "disorder platelet", "type 22", "bleeding disorder platelet", "disorder platelet type", "platelet type 22", "bleeding disorder platelet type", "bdplt22" ] }, { "record_id": "MONDO:0032765", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032765", "record_type": "disease", "section": "proteins", "phraselist": [ "p29323", "p29323 1", "ephb2_human", "np_001296122", "glycoprotein", "ephb2", "bdplt22", "capb", "drt", "ek5", "epht3", "epth3", "erk", "hek5", "pcbc", "tyro5" ] }, { "record_id": "MONDO:0032765", "record_type": "disease", "section": "proteins", "phraselist": [ "ephrin", "type", "receptor", "ephrin type", "type b", "b receptor", "receptor 2", "ephrin type b", "type b receptor", "b receptor 2", "ephrin type b receptor", "type b receptor 2", "ephrin type b receptor 2", "2.7.10.1", "developmentally", "regulated", "eph", "related", "tyrosine", "kinase", "developmentally regulated", "regulated eph", "eph related", "related tyrosine", "tyrosine kinase", "developmentally regulated eph", "regulated eph related", "eph related tyrosine", "related tyrosine kinase", "developmentally regulated eph related", "regulated eph related tyrosine", "eph related tyrosine kinase", "developmentally regulated eph related tyrosine", "regulated eph related tyrosine kinase", "ek5", "elk", "elk related", "elk related tyrosine", "elk related tyrosine kinase", "eph tyrosine", "kinase 3", "eph tyrosine kinase", "tyrosine kinase 3", "eph tyrosine kinase 3", "like", "eph like", "like kinase", "kinase 5", "eph like kinase", "like kinase 5", "eph like kinase 5", "renal", "carcinoma", "antigen", "ny", "ren", "47", "renal carcinoma", "carcinoma antigen", "antigen ny", "ny ren", "ren 47", "renal carcinoma antigen", "carcinoma antigen ny", "antigen ny ren", "ny ren 47", "renal carcinoma antigen ny", "carcinoma antigen ny ren", "antigen ny ren 47", "renal carcinoma antigen ny ren", "carcinoma antigen ny ren 47", "protein", "tyro5", "tyrosine protein", "protein kinase", "kinase tyro5", "tyrosine protein kinase", "protein kinase tyro5", "tyrosine protein kinase tyro5", "kinase receptor", "receptor eph", "eph 3", "protein kinase receptor", "kinase receptor eph", "receptor eph 3", "tyrosine protein kinase receptor", "protein kinase receptor eph", "kinase receptor eph 3", "tyrosine protein kinase receptor eph", "protein kinase receptor eph 3", "isoform", "precursor", "2 isoform", "isoform 4", "4 precursor", "receptor 2 isoform", "2 isoform 4", "isoform 4 precursor", "b receptor 2 isoform", "receptor 2 isoform 4", "2 isoform 4 precursor", "type b receptor 2 isoform", "b receptor 2 isoform 4", "receptor 2 isoform 4 precursor", "hek5", "protein tyrosine", "kinase hek5", "protein tyrosine kinase", "tyrosine kinase hek5", "protein tyrosine kinase hek5" ] }, { "record_id": "MONDO:0032770", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032770", "0032770", "mim:618470", "618470" ] }, { "record_id": "MONDO:0032770", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "severe", "speech", "and", "ambulation", "defects", "intellectual developmental", "developmental disorder", "disorder with", "with severe", "severe speech", "speech and", "and ambulation", "ambulation defects", "intellectual developmental disorder", "developmental disorder with", "disorder with severe", "with severe speech", "severe speech and", "speech and ambulation", "and ambulation defects", "intellectual developmental disorder with", "developmental disorder with severe", "disorder with severe speech", "with severe speech and", "severe speech and ambulation", "speech and ambulation defects", "intellectual developmental disorder with severe", "developmental disorder with severe speech", "disorder with severe speech and", "with severe speech and ambulation", "severe speech and ambulation defects", "actl6b", "related", "bafopathy", "actl6b related", "related bafopathy", "actl6b related bafopathy", "iddssad" ] }, { "record_id": "MONDO:0032770", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032770", "record_type": "disease", "section": "proteins", "phraselist": [ "o94805", "o94805 1", "acl6b_human", "np_057272", "actl6b", "actl6", "baf53b", "dee76", "eiee76", "iddssad", "smarcn2", "arpnalpha" ] }, { "record_id": "MONDO:0032770", "record_type": "disease", "section": "proteins", "phraselist": [ "actin", "like", "protein", "6b", "actin like", "like protein", "protein 6b", "actin like protein", "like protein 6b", "actin like protein 6b", "53", "kda", "brg1", "associated", "factor", "53 kda", "kda brg1", "brg1 associated", "associated factor", "factor b", "53 kda brg1", "kda brg1 associated", "brg1 associated factor", "associated factor b", "53 kda brg1 associated", "kda brg1 associated factor", "brg1 associated factor b", "53 kda brg1 associated factor", "kda brg1 associated factor b", "related", "baf53b", "actin related", "related protein", "protein baf53b", "actin related protein", "related protein baf53b", "actin related protein baf53b", "arpnalpha", "53b", "factor 53b", "associated factor 53b", "brg1 associated factor 53b", "harpn", "alpha", "harpn alpha" ] }, { "record_id": "MONDO:0032772", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032772", "0032772", "mim:618476", "618476" ] }, { "record_id": "MONDO:0032772", "record_type": "disease", "section": "disease_name", "phraselist": [ "brain", "abnormalities", "neurodegeneration", "and", "dysosteosclerosis", "brain abnormalities", "and dysosteosclerosis", "abnormalities neurodegeneration", "neurodegeneration and", "brain abnormalities neurodegeneration", "neurodegeneration and dysosteosclerosis", "abnormalities neurodegeneration and", "banddos" ] }, { "record_id": "MONDO:0032772", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032772", "record_type": "disease", "section": "proteins", "phraselist": [ "p07333", "p07333 1", "csf1r_human", "np_001275634", "glycoprotein", "csf1r", "banddos", "fms", "c fms", "cd115", "csf", "1r", "csf 1r", "csfr", "fim2", "gpsc", "hdls1", "hdls", "m csf", "csf r", "m csf r" ] }, { "record_id": "MONDO:0032772", "record_type": "disease", "section": "proteins", "phraselist": [ "macrophage", "colony", "stimulating", "factor", "receptor", "macrophage colony", "colony stimulating", "stimulating factor", "factor 1", "1 receptor", "macrophage colony stimulating", "colony stimulating factor", "stimulating factor 1", "factor 1 receptor", "macrophage colony stimulating factor", "colony stimulating factor 1", "stimulating factor 1 receptor", "macrophage colony stimulating factor 1", "colony stimulating factor 1 receptor", "2.7.10.1", "cd115", "antigen", "cd115 antigen", "csf", "csf 1", "csf 1 receptor", "1 r", "csf 1 r", "1r", "csf 1r", "fms", "proto", "oncogene", "fms proto", "proto oncogene", "fms proto oncogene", "m csf", "csf r", "m csf r", "mcdonough", "feline", "sarcoma", "viral", "homolog", "mcdonough feline", "feline sarcoma", "sarcoma viral", "v fms", "oncogene homolog", "mcdonough feline sarcoma", "feline sarcoma viral", "viral v", "fms oncogene", "mcdonough feline sarcoma viral", "sarcoma viral v", "viral v fms", "v fms oncogene", "fms oncogene homolog", "feline sarcoma viral v", "sarcoma viral v fms", "v fms oncogene homolog", "oncogene c", "c fms", "proto oncogene c", "oncogene c fms", "proto oncogene c fms", "factor i", "i receptor", "stimulating factor i", "factor i receptor", "colony stimulating factor i", "stimulating factor i receptor", "macrophage colony stimulating factor i", "colony stimulating factor i receptor", "isoform", "precursor", "receptor isoform", "isoform a", "a precursor", "1 receptor isoform", "receptor isoform a", "isoform a precursor", "factor 1 receptor isoform", "1 receptor isoform a", "receptor isoform a precursor", "stimulating factor 1 receptor isoform", "factor 1 receptor isoform a", "1 receptor isoform a precursor" ] }, { "record_id": "MONDO:0032773", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032773", "0032773", "mim:618477", "618477" ] }, { "record_id": "MONDO:0032773", "record_type": "disease", "section": "disease_name", "phraselist": [ "uridine", "cytidineuria", "uridine cytidineuria", "urctu" ] }, { "record_id": "MONDO:0032773", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032773", "record_type": "disease", "section": "proteins", "phraselist": [ "o00337", "o00337 1", "s28a1_human", "np_001274691", "glycoprotein", "slc28a1", "cnt1", "hcnt1", "urctu" ] }, { "record_id": "MONDO:0032773", "record_type": "disease", "section": "proteins", "phraselist": [ "sodium/nucleoside", "cotransporter", "sodium/nucleoside cotransporter", "cotransporter 1", "sodium/nucleoside cotransporter 1", "cnt", "cnt 1", "concentrative", "nucleoside", "transporter", "concentrative nucleoside", "nucleoside transporter", "transporter 1", "concentrative nucleoside transporter", "nucleoside transporter 1", "concentrative nucleoside transporter 1", "na", "/nucleoside", "na +", "+ /nucleoside", "/nucleoside cotransporter", "na + /nucleoside", "+ /nucleoside cotransporter", "/nucleoside cotransporter 1", "na + /nucleoside cotransporter", "+ /nucleoside cotransporter 1", "na + /nucleoside cotransporter 1", "sodium", "coupled", "sodium coupled", "coupled nucleoside", "sodium coupled nucleoside", "coupled nucleoside transporter", "sodium coupled nucleoside transporter", "coupled nucleoside transporter 1", "sodium coupled nucleoside transporter 1", "solute", "carrier", "family", "28", "member", "solute carrier", "carrier family", "family 28", "28 member", "member 1", "solute carrier family", "carrier family 28", "family 28 member", "28 member 1", "solute carrier family 28", "carrier family 28 member", "family 28 member 1", "solute carrier family 28 member", "carrier family 28 member 1", "hcnt1", "isoform", "1 isoform", "isoform 1", "cotransporter 1 isoform", "1 isoform 1", "sodium/nucleoside cotransporter 1 isoform", "cotransporter 1 isoform 1", "sodium/nucleoside cotransporter 1 isoform 1", "28 concentrative", "family 28 concentrative", "28 concentrative nucleoside", "transporter member", "carrier family 28 concentrative", "family 28 concentrative nucleoside", "28 concentrative nucleoside transporter", "nucleoside transporter member", "transporter member 1", "28 sodium", "family 28 sodium", "28 sodium coupled", "carrier family 28 sodium", "family 28 sodium coupled", "28 sodium coupled nucleoside" ] }, { "record_id": "MONDO:0032774", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032774", "0032774", "mim:618479", "618479" ] }, { "record_id": "MONDO:0032774", "record_type": "disease", "section": "disease_name", "phraselist": [ "cerebellar", "ocular", "craniofacial", "and", "genital", "syndrome", "and genital", "genital syndrome", "cerebellar ocular", "ocular craniofacial", "craniofacial and", "and genital syndrome", "craniofacial and genital", "cerebellar ocular craniofacial", "ocular craniofacial and", "craniofacial and genital syndrome", "cofg" ] }, { "record_id": "MONDO:0032774", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032774", "record_type": "disease", "section": "proteins", "phraselist": [ "q13394", "q13394 1", "mb211_human", "np_005575", "glycoprotein", "mab21l1", "cagr1", "cofg", "nbla00126" ] }, { "record_id": "MONDO:0032774", "record_type": "disease", "section": "proteins", "phraselist": [ "putative", "nucleotidyltransferase", "mab21l1", "putative nucleotidyltransferase", "nucleotidyltransferase mab21l1", "putative nucleotidyltransferase mab21l1", "2.7.7.", "protein", "mab", "21", "like", "protein mab", "mab 21", "21 like", "like 1", "protein mab 21", "mab 21 like", "21 like 1", "protein mab 21 like", "mab 21 like 1", "protein mab 21 like 1", "like protein", "protein 1", "21 like protein", "like protein 1", "mab 21 like protein", "21 like protein 1", "mab 21 like protein 1" ] }, { "record_id": "MONDO:0032775", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032775", "0032775", "mim:618480", "618480" ] }, { "record_id": "MONDO:0032775", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "seizures", "and", "speech", "walking", "impairment", "neurodevelopmental disorder", "disorder with", "with seizures", "seizures and", "and speech", "speech and", "and walking", "walking impairment", "neurodevelopmental disorder with", "disorder with seizures", "with seizures and", "seizures and speech", "and speech and", "speech and walking", "and walking impairment", "neurodevelopmental disorder with seizures", "disorder with seizures and", "with seizures and speech", "seizures and speech and", "and speech and walking", "speech and walking impairment", "neurodevelopmental disorder with seizures and", "disorder with seizures and speech", "with seizures and speech and", "seizures and speech and walking", "and speech and walking impairment", "deoxyhypusine", "synthase", "deoxyhypusine synthase", "synthase disorder", "deoxyhypusine synthase disorder", "nedsswi" ] }, { "record_id": "MONDO:0032775", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032775", "record_type": "disease", "section": "proteins", "phraselist": [ "p49366", "p49366 1", "dhys_human", "np_001193903", "glycoprotein", "dhps", "dhs", "ds", "mig13", "nedsswi" ] }, { "record_id": "MONDO:0032775", "record_type": "disease", "section": "proteins", "phraselist": [ "deoxyhypusine", "synthase", "deoxyhypusine synthase", "2.5.1.46", "dhs", "isoform", "synthase isoform", "isoform d", "deoxyhypusine synthase isoform", "synthase isoform d", "deoxyhypusine synthase isoform d", "migration", "inducing", "gene", "13", "migration inducing", "inducing gene", "gene 13", "migration inducing gene", "inducing gene 13", "migration inducing gene 13" ] }, { "record_id": "MONDO:0032779", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032779", "0032779", "mim:618492", "618492" ] }, { "record_id": "MONDO:0032779", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "and", "structural", "brain", "anomalies", "neurodevelopmental disorder", "disorder with", "with microcephaly", "microcephaly and", "and structural", "structural brain", "brain anomalies", "neurodevelopmental disorder with", "disorder with microcephaly", "with microcephaly and", "microcephaly and structural", "and structural brain", "structural brain anomalies", "neurodevelopmental disorder with microcephaly", "disorder with microcephaly and", "with microcephaly and structural", "microcephaly and structural brain", "and structural brain anomalies", "neurodevelopmental disorder with microcephaly and", "disorder with microcephaly and structural", "with microcephaly and structural brain", "microcephaly and structural brain anomalies", "nedmiba" ] }, { "record_id": "MONDO:0032779", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032779", "record_type": "disease", "section": "proteins", "phraselist": [ "q13409", "q13409 1", "dc1i2_human", "np_001258714", "glycoprotein", "dync1i2", "dic74", "dnci2", "dncic2", "ic2", "nedmiba" ] }, { "record_id": "MONDO:0032779", "record_type": "disease", "section": "proteins", "phraselist": [ "cytoplasmic", "dynein", "intermediate", "chain", "cytoplasmic dynein", "dynein 1", "1 intermediate", "intermediate chain", "chain 2", "cytoplasmic dynein 1", "dynein 1 intermediate", "1 intermediate chain", "intermediate chain 2", "cytoplasmic dynein 1 intermediate", "dynein 1 intermediate chain", "1 intermediate chain 2", "cytoplasmic dynein 1 intermediate chain", "dynein 1 intermediate chain 2", "dynein intermediate", "cytoplasmic dynein intermediate", "dynein intermediate chain", "cytoplasmic dynein intermediate chain", "dynein intermediate chain 2", "cytoplasmic dynein intermediate chain 2", "dh", "ic", "dh ic", "ic 2", "dh ic 2", "cytosolic", "2 cytosolic", "chain 2 cytosolic", "intermediate chain 2 cytosolic", "isoform", "2 isoform", "isoform 1", "chain 2 isoform", "2 isoform 1", "intermediate chain 2 isoform", "chain 2 isoform 1", "1 intermediate chain 2 isoform", "intermediate chain 2 isoform 1", "polypeptide", "intermediate polypeptide", "polypeptide 2", "dynein cytoplasmic", "cytoplasmic intermediate", "intermediate polypeptide 2", "cytoplasmic intermediate polypeptide", "dynein cytoplasmic intermediate", "cytoplasmic intermediate polypeptide 2", "testis", "tissue", "sperm", "binding", "protein", "li", "66n", "testis tissue", "tissue sperm", "sperm binding", "binding protein", "protein li", "li 66n", "testis tissue sperm", "tissue sperm binding", "sperm binding protein", "binding protein li", "protein li 66n", "testis tissue sperm binding", "tissue sperm binding protein", "sperm binding protein li", "binding protein li 66n", "testis tissue sperm binding protein", "tissue sperm binding protein li", "sperm binding protein li 66n" ] }, { "record_id": "MONDO:0032780", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032780", "0032780", "mim:618493", "618493" ] }, { "record_id": "MONDO:0032780", "record_type": "disease", "section": "disease_name", "phraselist": [ "hypotonia", "hypoventilation", "impaired", "intellectual", "development", "dysautonomia", "epilepsy", "and", "eye", "abnormalities", "impaired intellectual", "intellectual development", "and eye", "eye abnormalities", "hypotonia hypoventilation", "hypoventilation impaired", "impaired intellectual development", "development dysautonomia", "dysautonomia epilepsy", "epilepsy and", "and eye abnormalities", "hypoventilation impaired intellectual", "intellectual development dysautonomia", "epilepsy and eye", "hypotonia hypoventilation impaired", "hypoventilation impaired intellectual development", "impaired intellectual development dysautonomia", "development dysautonomia epilepsy", "dysautonomia epilepsy and", "epilepsy and eye abnormalities", "hidea", "hyperventilation", "hypotonia hyperventilation", "hyperventilation impaired", "hyperventilation impaired intellectual", "hypotonia hyperventilation impaired", "hyperventilation impaired intellectual development" ] }, { "record_id": "MONDO:0032780", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032780", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nxg6", "q9nxg6 1", "p4htm_human", "np_808807", "glycoprotein", "p4htm", "egln4", "hidea", "hifph4", "p4h", "tm", "p4h tm", "ph", "ph 4", "ph4", "phd4" ] }, { "record_id": "MONDO:0032780", "record_type": "disease", "section": "proteins", "phraselist": [ "transmembrane", "prolyl", "hydroxylase", "transmembrane prolyl", "prolyl 4", "4 hydroxylase", "transmembrane prolyl 4", "prolyl 4 hydroxylase", "transmembrane prolyl 4 hydroxylase", "1.14.11.29", "hif", "ph4", "hif ph4", "hif prolyl", "prolyl hydroxylase", "hydroxylase 4", "hif prolyl hydroxylase", "prolyl hydroxylase 4", "hif prolyl hydroxylase 4", "hph", "hph 4", "hypoxia", "inducible", "factor", "hypoxia inducible", "inducible factor", "factor prolyl", "hypoxia inducible factor", "inducible factor prolyl", "factor prolyl hydroxylase", "hypoxia inducible factor prolyl", "inducible factor prolyl hydroxylase", "factor prolyl hydroxylase 4", "hypoxia inducible factor prolyl hydroxylase", "inducible factor prolyl hydroxylase 4", "p4h", "with", "domain", "p4h with", "with transmembrane", "transmembrane domain", "p4h with transmembrane", "with transmembrane domain", "p4h with transmembrane domain", "tm", "p4h tm", "hydroxlase", "containing", "prolyl hydroxlase", "hydroxlase domain", "domain containing", "containing 4", "prolyl hydroxlase domain", "hydroxlase domain containing", "domain containing 4", "prolyl hydroxlase domain containing", "hydroxlase domain containing 4", "prolyl hydroxlase domain containing 4", "factor prolyl 4", "inducible factor prolyl 4", "factor prolyl 4 hydroxylase", "hypoxia inducible factor prolyl 4", "inducible factor prolyl 4 hydroxylase", "proline", "proline 4", "proline 4 hydroxylase", "endoplasmic", "reticulum", "endoplasmic reticulum", "hydroxylase transmembrane", "transmembrane endoplasmic", "4 hydroxylase transmembrane", "transmembrane endoplasmic reticulum", "prolyl 4 hydroxylase transmembrane", "hydroxylase transmembrane endoplasmic", "isoform", "hydroxylase isoform", "isoform c", "4 hydroxylase isoform", "hydroxylase isoform c", "prolyl 4 hydroxylase isoform", "4 hydroxylase isoform c", "transmembrane prolyl 4 hydroxylase isoform", "prolyl 4 hydroxylase isoform c" ] }, { "record_id": "MONDO:0032781", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032781", "0032781", "mim:618494", "618494" ] }, { "record_id": "MONDO:0032781", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "hypotonia", "epilepsy", "developmental", "delay", "and", "digital", "anomalies", "congenital hypotonia", "developmental delay", "and digital", "digital anomalies", "hypotonia epilepsy", "epilepsy developmental", "delay and", "and digital anomalies", "congenital hypotonia epilepsy", "epilepsy developmental delay", "developmental delay and", "delay and digital", "hypotonia epilepsy developmental", "developmental delay and digital", "delay and digital anomalies", "chedda" ] }, { "record_id": "MONDO:0032781", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032781", "record_type": "disease", "section": "proteins", "phraselist": [ "p54259", "p54259 1", "atn1_human", "np_001007027", "glycoprotein", "atn1", "b37", "chedda", "d12s755e", "drpla", "hrs", "nod" ] }, { "record_id": "MONDO:0032781", "record_type": "disease", "section": "proteins", "phraselist": [ "atrophin", "atrophin 1", "dentatorubral", "pallidoluysian", "atrophy", "protein", "dentatorubral pallidoluysian", "pallidoluysian atrophy", "atrophy protein", "dentatorubral pallidoluysian atrophy", "pallidoluysian atrophy protein", "dentatorubral pallidoluysian atrophy protein", "isoform", "1 isoform", "isoform 1", "atrophin 1 isoform", "1 isoform 1", "atrophin 1 isoform 1" ] }, { "record_id": "MONDO:0032784", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032784", "0032784", "mim:618497", "618497" ] }, { "record_id": "MONDO:0032784", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "seizures", "and", "nonepileptic", "hyperkinetic", "movements", "neurodevelopmental disorder", "disorder with", "with seizures", "seizures and", "and nonepileptic", "nonepileptic hyperkinetic", "hyperkinetic movements", "neurodevelopmental disorder with", "disorder with seizures", "with seizures and", "seizures and nonepileptic", "and nonepileptic hyperkinetic", "nonepileptic hyperkinetic movements", "neurodevelopmental disorder with seizures", "disorder with seizures and", "with seizures and nonepileptic", "seizures and nonepileptic hyperkinetic", "and nonepileptic hyperkinetic movements", "neurodevelopmental disorder with seizures and", "disorder with seizures and nonepileptic", "with seizures and nonepileptic hyperkinetic", "seizures and nonepileptic hyperkinetic movements", "nedneh", "non", "epileptic", "and non", "non epileptic", "epileptic hyperkinetic", "seizures and non", "and non epileptic", "non epileptic hyperkinetic", "epileptic hyperkinetic movements", "with seizures and non", "seizures and non epileptic", "and non epileptic hyperkinetic", "non epileptic hyperkinetic movements", "disorder with seizures and non", "with seizures and non epileptic", "seizures and non epileptic hyperkinetic", "and non epileptic hyperkinetic movements" ] }, { "record_id": "MONDO:0032784", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032784", "record_type": "disease", "section": "proteins", "phraselist": [ "q00975", "q00975 1", "cac1b_human", "np_000709", "glycoprotein", "cacna1b", "biii", "cach5", "cacnl1a5", "cacnn", "cav2.2", "dyt23", "nedneh" ] }, { "record_id": "MONDO:0032784", "record_type": "disease", "section": "proteins", "phraselist": [ "voltage", "dependent", "type", "calcium", "channel", "subunit", "alpha", "1b", "voltage dependent", "dependent n", "n type", "type calcium", "calcium channel", "channel subunit", "subunit alpha", "alpha 1b", "voltage dependent n", "dependent n type", "n type calcium", "type calcium channel", "calcium channel subunit", "channel subunit alpha", "subunit alpha 1b", "voltage dependent n type", "dependent n type calcium", "n type calcium channel", "type calcium channel subunit", "calcium channel subunit alpha", "channel subunit alpha 1b", "voltage dependent n type calcium", "dependent n type calcium channel", "n type calcium channel subunit", "type calcium channel subunit alpha", "calcium channel subunit alpha 1b", "biii", "brain", "iii", "brain calcium", "channel iii", "brain calcium channel", "calcium channel iii", "brain calcium channel iii", "polypeptide", "isoform", "l type", "alpha 1", "1 polypeptide", "polypeptide isoform", "isoform 5", "channel l", "type alpha", "alpha 1 polypeptide", "1 polypeptide isoform", "polypeptide isoform 5", "calcium channel l", "channel l type", "l type alpha", "type alpha 1", "alpha 1 polypeptide isoform", "1 polypeptide isoform 5", "calcium channel l type", "l type alpha 1", "type alpha 1 polypeptide", "alpha 1 polypeptide isoform 5", "cav2.2", "gated", "ca2+", "cav2.2 voltage", "voltage gated", "gated ca2+", "ca2+ channel", "cav2.2 voltage gated", "voltage gated ca2+", "gated ca2+ channel", "cav2.2 voltage gated ca2+", "voltage gated ca2+ channel", "cav2.2 voltage gated ca2+ channel", "gated calcium", "alpha cav2.2", "voltage gated calcium", "gated calcium channel", "subunit alpha cav2.2", "voltage gated calcium channel", "gated calcium channel subunit", "channel subunit alpha cav2.2", "voltage gated calcium channel subunit", "gated calcium channel subunit alpha", "calcium channel subunit alpha cav2.2", "alpha12.2", "channel alpha12.2", "alpha12.2 subunit", "calcium channel alpha12.2", "channel alpha12.2 subunit", "calcium channel alpha12.2 subunit", "1b subunit", "channel voltage", "dependent l", "alpha 1b subunit", "calcium channel voltage", "channel voltage dependent", "voltage dependent l", "dependent l type", "type alpha 1b", "calcium channel voltage dependent", "voltage dependent l type", "l type alpha 1b", "type alpha 1b subunit", "n type alpha", "n type alpha 1b", "1b isoform", "isoform 1", "alpha 1b isoform", "1b isoform 1", "subunit alpha 1b isoform", "alpha 1b isoform 1", "channel subunit alpha 1b isoform", "subunit alpha 1b isoform 1", "channel alpha", "alpha subunit", "subunit cav2.2", "calcium channel alpha", "channel alpha subunit", "alpha subunit cav2.2", "gated calcium channel alpha", "calcium channel alpha subunit", "channel alpha subunit cav2.2", "voltage gated calcium channel alpha", "gated calcium channel alpha subunit", "calcium channel alpha subunit cav2.2" ] }, { "record_id": "MONDO:0032785", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032785", "0032785", "mim:618498", "618498" ] }, { "record_id": "MONDO:0032785", "record_type": "disease", "section": "disease_name", "phraselist": [ "polydactyly", "postaxial", "type", "a10", "type a10", "polydactyly postaxial", "postaxial type", "postaxial type a10", "polydactyly postaxial type", "papa10", "postaxial a10", "polydactyly postaxial a10" ] }, { "record_id": "MONDO:0032785", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032785", "record_type": "disease", "section": "proteins", "phraselist": [ "q8iv33", "q8iv33 1", "k0825_human", "np_775936", "glycoprotein", "kiaa0825", "c5orf36", "papa10" ] }, { "record_id": "MONDO:0032785", "record_type": "disease", "section": "proteins", "phraselist": [ "uncharacterized", "protein", "kiaa0825", "uncharacterized protein", "protein kiaa0825", "uncharacterized protein kiaa0825", "isoform", "kiaa0825 isoform", "isoform 2", "protein kiaa0825 isoform", "kiaa0825 isoform 2", "uncharacterized protein kiaa0825 isoform", "protein kiaa0825 isoform 2", "uncharacterized protein kiaa0825 isoform 2" ] }, { "record_id": "MONDO:0032788", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032788", "0032788", "mim:618501", "618501" ] }, { "record_id": "MONDO:0032788", "record_type": "disease", "section": "disease_name", "phraselist": [ "cerebellar", "atrophy", "with", "seizures", "and", "variable", "developmental", "delay", "cerebellar atrophy", "atrophy with", "with seizures", "seizures and", "and variable", "variable developmental", "developmental delay", "cerebellar atrophy with", "atrophy with seizures", "with seizures and", "seizures and variable", "and variable developmental", "variable developmental delay", "cerebellar atrophy with seizures", "atrophy with seizures and", "with seizures and variable", "seizures and variable developmental", "and variable developmental delay", "cerebellar atrophy with seizures and", "atrophy with seizures and variable", "with seizures and variable developmental", "seizures and variable developmental delay", "casvdd" ] }, { "record_id": "MONDO:0032792", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032792", "0032792", "mim:618511", "618511" ] }, { "record_id": "MONDO:0032792", "record_type": "disease", "section": "disease_name", "phraselist": [ "neuropathy", "hereditary", "motor", "and", "sensory", "type", "vic", "with", "optic", "atrophy", "hereditary motor", "motor and", "and sensory", "type vic", "with optic", "optic atrophy", "neuropathy hereditary", "hereditary motor and", "motor and sensory", "sensory type", "vic with", "with optic atrophy", "neuropathy hereditary motor", "hereditary motor and sensory", "and sensory type", "sensory type vic", "type vic with", "vic with optic", "neuropathy hereditary motor and", "motor and sensory type", "and sensory type vic", "type vic with optic", "vic with optic atrophy", "cmt", "6c", "cmt 6c", "cmt6c", "charcot", "marie", "tooth", "disease", "charcot marie", "marie tooth", "tooth disease", "type 6c", "charcot marie tooth", "marie tooth disease", "disease type", "charcot marie tooth disease", "tooth disease type", "disease type 6c", "marie tooth disease type", "tooth disease type 6c", "hmsn", "hmsn 6c", "hmsn6c", "sensory 6c", "6c with", "and sensory 6c", "6c with optic", "motor and sensory 6c", "sensory 6c with", "6c with optic atrophy" ] }, { "record_id": "MONDO:0032792", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032792", "record_type": "disease", "section": "proteins", "phraselist": [ "o00764", "o00764 1", "pdxk_human", "np_003672", "glycoprotein", "pdxk", "c21orf124", "c21orf97", "hel", "1a", "hel s", "s 1a", "hel s 1a", "hmsn6c", "pkh", "pnk", "pred79" ] }, { "record_id": "MONDO:0032792", "record_type": "disease", "section": "proteins", "phraselist": [ "pyridoxal", "kinase", "pyridoxal kinase", "2.7.1.35", "pyridoxine", "pyridoxine kinase", "epididymis", "secretory", "sperm", "binding", "protein", "li", "1a", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "protein li", "li 1a", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "binding protein li", "protein li 1a", "epididymis secretory sperm binding", "secretory sperm binding protein", "sperm binding protein li", "binding protein li 1a", "epididymis secretory sperm binding protein", "secretory sperm binding protein li", "sperm binding protein li 1a", "vitamin", "b6", "vitamin b6", "pyridoxal pyridoxine", "pyridoxine vitamin", "b6 kinase", "pyridoxine vitamin b6", "vitamin b6 kinase", "pyridoxal pyridoxine vitamin", "isoform", "kinase isoform", "isoform 1", "pyridoxal kinase isoform", "kinase isoform 1", "pyridoxal kinase isoform 1", "pyridoxamine", "pyridoxamine kinase" ] }, { "record_id": "MONDO:0032793", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032793", "0032793", "mim:618512", "618512" ] }, { "record_id": "MONDO:0032793", "record_type": "disease", "section": "disease_name", "phraselist": [ "o'donnell", "luria", "rodan", "syndrome", "o'donnell luria", "luria rodan", "rodan syndrome", "o'donnell luria rodan", "luria rodan syndrome", "o'donnell luria rodan syndrome", "odluro" ] }, { "record_id": "MONDO:0032793", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032793", "record_type": "disease", "section": "proteins", "phraselist": [ "q8izd2", "q8izd2 1", "kmt2e_human", "np_061152", "glycoprotein", "kmt2e", "hdcmc04p", "mll5", "nkp44l", "odluro", "setd5b" ] }, { "record_id": "MONDO:0032793", "record_type": "disease", "section": "proteins", "phraselist": [ "histone", "reader", "kmt2e", "histone reader", "reader kmt2e", "histone reader kmt2e", "inactive", "lysine", "methyltransferase", "2e", "inactive histone", "histone lysine", "lysine n", "n methyltransferase", "methyltransferase 2e", "inactive histone lysine", "histone lysine n", "lysine n methyltransferase", "n methyltransferase 2e", "inactive histone lysine n", "histone lysine n methyltransferase", "lysine n methyltransferase 2e", "inactive histone lysine n methyltransferase", "histone lysine n methyltransferase 2e", "inactive lysine", "inactive lysine n", "inactive lysine n methyltransferase", "inactive lysine n methyltransferase 2e", "myeloid/lymphoid", "or", "mixed", "lineage", "leukemia", "protein", "myeloid/lymphoid or", "or mixed", "mixed lineage", "lineage leukemia", "leukemia protein", "protein 5", "myeloid/lymphoid or mixed", "or mixed lineage", "mixed lineage leukemia", "lineage leukemia protein", "leukemia protein 5", "myeloid/lymphoid or mixed lineage", "or mixed lineage leukemia", "mixed lineage leukemia protein", "lineage leukemia protein 5", "myeloid/lymphoid or mixed lineage leukemia", "or mixed lineage leukemia protein", "mixed lineage leukemia protein 5", "mll5", "methyltransferase mll5", "n methyltransferase mll5", "lysine n methyltransferase mll5", "histone lysine n methyltransferase mll5", "isoform", "2e isoform", "isoform a", "methyltransferase 2e isoform", "2e isoform a", "n methyltransferase 2e isoform", "methyltransferase 2e isoform a", "lysine n methyltransferase 2e isoform", "n methyltransferase 2e isoform a", "specific", "specific methyltransferase", "lysine k", "k specific", "specific methyltransferase 2e", "k specific methyltransferase", "lysine k specific", "k specific methyltransferase 2e", "trithorax", "homolog", "drosophila", "leukemia 5", "trithorax homolog", "lineage leukemia 5", "5 trithorax", "homolog drosophila", "mixed lineage leukemia 5", "leukemia 5 trithorax", "5 trithorax homolog", "trithorax homolog drosophila", "or mixed lineage leukemia 5", "lineage leukemia 5 trithorax", "leukemia 5 trithorax homolog" ] }, { "record_id": "MONDO:0032798", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032798", "0032798", "mim:618527", "618527" ] }, { "record_id": "MONDO:0032798", "record_type": "disease", "section": "disease_name", "phraselist": [ "ichthyotic", "keratoderma", "spasticity", "hypomyelination", "and", "dysmorphic", "facial", "features", "ichthyotic keratoderma", "and dysmorphic", "dysmorphic facial", "facial features", "keratoderma spasticity", "spasticity hypomyelination", "hypomyelination and", "and dysmorphic facial", "dysmorphic facial features", "ichthyotic keratoderma spasticity", "hypomyelination and dysmorphic", "and dysmorphic facial features", "keratoderma spasticity hypomyelination", "spasticity hypomyelination and", "hypomyelination and dysmorphic facial", "facies", "dysmorphic facies", "and dysmorphic facies", "hypomyelination and dysmorphic facies", "ikshd" ] }, { "record_id": "MONDO:0032798", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032798", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bw60", "q9bw60 1", "elov1_human", "np_001243328", "glycoprotein", "elovl1", "cgi", "88", "cgi 88", "ikshd", "ssc1" ] }, { "record_id": "MONDO:0032798", "record_type": "disease", "section": "proteins", "phraselist": [ "very", "long", "chain", "fatty", "acid", "elongase", "very long", "long chain", "chain fatty", "fatty acid", "acid elongase", "elongase 1", "very long chain", "long chain fatty", "chain fatty acid", "fatty acid elongase", "acid elongase 1", "very long chain fatty", "long chain fatty acid", "chain fatty acid elongase", "fatty acid elongase 1", "very long chain fatty acid", "long chain fatty acid elongase", "chain fatty acid elongase 1", "2.3.1.199", "keto", "acyl", "coa", "synthase", "elovl1", "3 keto", "keto acyl", "acyl coa", "coa synthase", "synthase elovl1", "3 keto acyl", "keto acyl coa", "acyl coa synthase", "coa synthase elovl1", "3 keto acyl coa", "keto acyl coa synthase", "acyl coa synthase elovl1", "3 keto acyl coa synthase", "keto acyl coa synthase elovl1", "elovl", "fa", "elovl fa", "fa elongase", "elovl fa elongase", "fa elongase 1", "elovl fa elongase 1", "elovl fatty", "elovl fatty acid", "elovl fatty acid elongase", "elovl fatty acid elongase 1", "elongation", "of", "acids", "protein", "elongation of", "of very", "fatty acids", "acids protein", "protein 1", "elongation of very", "of very long", "chain fatty acids", "fatty acids protein", "acids protein 1", "elongation of very long", "of very long chain", "long chain fatty acids", "chain fatty acids protein", "fatty acids protein 1", "elongation of very long chain", "of very long chain fatty", "very long chain fatty acids", "long chain fatty acids protein", "chain fatty acids protein 1", "ketoacyl", "chain 3", "3 ketoacyl", "ketoacyl coa", "synthase 1", "long chain 3", "chain 3 ketoacyl", "3 ketoacyl coa", "ketoacyl coa synthase", "coa synthase 1", "very long chain 3", "long chain 3 ketoacyl", "chain 3 ketoacyl coa", "3 ketoacyl coa synthase", "ketoacyl coa synthase 1", "very long chain 3 ketoacyl", "long chain 3 ketoacyl coa", "chain 3 ketoacyl coa synthase", "3 ketoacyl coa synthase 1", "oxoacyl", "3 oxoacyl", "oxoacyl coa", "chain 3 oxoacyl", "3 oxoacyl coa", "oxoacyl coa synthase", "long chain 3 oxoacyl", "chain 3 oxoacyl coa", "3 oxoacyl coa synthase", "oxoacyl coa synthase 1", "very long chain 3 oxoacyl", "long chain 3 oxoacyl coa", "chain 3 oxoacyl coa synthase", "3 oxoacyl coa synthase 1", "fen1/elo2", "sur4/elo3", "yeast", "like", "like 1", "acids fen1/elo2", "fen1/elo2 sur4/elo3", "sur4/elo3 yeast", "yeast like", "fatty acids fen1/elo2", "yeast like 1", "chain fatty acids fen1/elo2", "acids fen1/elo2 sur4/elo3", "fen1/elo2 sur4/elo3 yeast", "sur4/elo3 yeast like", "isoform", "1 isoform", "isoform 1", "elongase 1 isoform", "1 isoform 1", "acid elongase 1 isoform", "elongase 1 isoform 1", "fatty acid elongase 1 isoform", "acid elongase 1 isoform 1" ] }, { "record_id": "MONDO:0032805", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032805", "0032805", "mim:618541", "618541" ] }, { "record_id": "MONDO:0032805", "record_type": "disease", "section": "disease_name", "phraselist": [ "hypopigmentation", "organomegaly", "and", "delayed", "myelination", "development", "and delayed", "delayed myelination", "myelination and", "and development", "hypopigmentation organomegaly", "organomegaly and", "and delayed myelination", "delayed myelination and", "myelination and development", "organomegaly and delayed", "and delayed myelination and", "delayed myelination and development", "hypopigmentation organomegaly and", "organomegaly and delayed myelination", "and delayed myelination and development", "hod" ] }, { "record_id": "MONDO:0032805", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032805", "record_type": "disease", "section": "proteins", "phraselist": [ "p51798", "p51798 1", "clcn7_human", "np_001107803", "glycoprotein", "clcn7", "clc", "clc 7", "clc7", "hod", "opta2", "optb4", "ppp1r63" ] }, { "record_id": "MONDO:0032805", "record_type": "disease", "section": "proteins", "phraselist": [ "/cl", "exchange", "transporter", "h +", "+ /cl", "exchange transporter", "transporter 7", "h + /cl", "exchange transporter 7", "/cl exchange", "chloride", "channel", "alpha", "subunit", "chloride channel", "channel 7", "7 alpha", "alpha subunit", "chloride channel 7", "channel 7 alpha", "7 alpha subunit", "chloride channel 7 alpha", "channel 7 alpha subunit", "chloride channel 7 alpha subunit", "protein", "channel protein", "protein 7", "chloride channel protein", "channel protein 7", "chloride channel protein 7", "clc", "clc 7", "isoform", "7 isoform", "isoform b", "transporter 7 isoform", "7 isoform b", "exchange transporter 7 isoform", "transporter 7 isoform b", "exchange transporter 7 isoform b", "voltage", "sensitive", "voltage sensitive", "sensitive 7", "channel voltage", "voltage sensitive 7", "chloride channel voltage", "channel voltage sensitive", "chloride channel voltage sensitive", "channel voltage sensitive 7", "gated", "chloride voltage", "voltage gated", "gated channel", "chloride voltage gated", "voltage gated channel", "gated channel 7", "chloride voltage gated channel", "voltage gated channel 7", "chloride voltage gated channel 7", "phosphatase", "regulatory", "63", "protein phosphatase", "phosphatase 1", "regulatory subunit", "subunit 63", "protein phosphatase 1", "1 regulatory", "regulatory subunit 63", "phosphatase 1 regulatory", "1 regulatory subunit", "protein phosphatase 1 regulatory", "phosphatase 1 regulatory subunit", "1 regulatory subunit 63" ] }, { "record_id": "MONDO:0032807", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032807", "0032807", "mim:618547", "618547" ] }, { "record_id": "MONDO:0032807", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "visual", "defects", "and", "brain", "anomalies", "neurodevelopmental disorder", "disorder with", "with visual", "visual defects", "defects and", "and brain", "brain anomalies", "neurodevelopmental disorder with", "disorder with visual", "with visual defects", "visual defects and", "defects and brain", "and brain anomalies", "neurodevelopmental disorder with visual", "disorder with visual defects", "with visual defects and", "visual defects and brain", "defects and brain anomalies", "neurodevelopmental disorder with visual defects", "disorder with visual defects and", "with visual defects and brain", "visual defects and brain anomalies", "nedviba" ] }, { "record_id": "MONDO:0032807", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032807", "record_type": "disease", "section": "proteins", "phraselist": [ "p19367", "p19367 1", "hxk1_human", "np_000179", "glycoprotein", "hk1", "cnsha5", "ta", "hk1 ta", "tb", "hk1 tb", "tc", "hk1 tc", "hkd", "hki", "hk", "hmsnr", "hxk1", "nedviba", "nmsr", "rp79", "hexokinase" ] }, { "record_id": "MONDO:0032807", "record_type": "disease", "section": "proteins", "phraselist": [ "hexokinase", "hexokinase 1", "2.7.1.1", "brain", "form", "brain form", "form hexokinase", "brain form hexokinase", "hk", "hk i", "type", "hexokinase type", "type i", "hexokinase type i", "hexokinase a", "neuropathy", "hereditary", "motor", "and", "sensory", "russe", "hereditary motor", "motor and", "and sensory", "russe type", "neuropathy hereditary", "hereditary motor and", "motor and sensory", "sensory russe", "neuropathy hereditary motor", "hereditary motor and sensory", "and sensory russe", "sensory russe type", "neuropathy hereditary motor and", "motor and sensory russe", "and sensory russe type", "glycolytic", "enzyme", "glycolytic enzyme", "ir", "hexokinase ir", "isoform", "hki", "1 isoform", "isoform hki", "hexokinase 1 isoform", "1 isoform hki", "hexokinase 1 isoform hki" ] }, { "record_id": "MONDO:0032809", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032809", "0032809", "mim:618549", "618549" ] }, { "record_id": "MONDO:0032809", "record_type": "disease", "section": "disease_name", "phraselist": [ "hepatitis", "fulminant", "viral", "susceptibility", "to", "fulminant viral", "susceptibility to", "hepatitis fulminant", "viral susceptibility", "hepatitis fulminant viral", "fulminant viral susceptibility", "viral susceptibility to", "fulminant viral susceptibility to", "fvh" ] }, { "record_id": "MONDO:0032809", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032809", "record_type": "disease", "section": "proteins", "phraselist": [ "o95998", "o95998 2", "i18bp_human", "np_001034748", "glycoprotein", "il18bp", "fvh", "il18bpa" ] }, { "record_id": "MONDO:0032809", "record_type": "disease", "section": "proteins", "phraselist": [ "interleukin", "18", "binding", "protein", "interleukin 18", "18 binding", "binding protein", "interleukin 18 binding", "18 binding protein", "interleukin 18 binding protein", "il", "18bp", "il 18bp", "mc51l", "53l", "54l", "homolog", "gene", "product", "mc51l 53l", "53l 54l", "54l homolog", "homolog gene", "gene product", "mc51l 53l 54l", "53l 54l homolog", "54l homolog gene", "homolog gene product", "mc51l 53l 54l homolog", "53l 54l homolog gene", "54l homolog gene product", "mc51l 53l 54l homolog gene", "53l 54l homolog gene product", "tadekinig", "alfa", "tadekinig alfa", "isoform", "precursor", "protein isoform", "isoform a", "a precursor", "binding protein isoform", "protein isoform a", "isoform a precursor", "18 binding protein isoform", "binding protein isoform a", "protein isoform a precursor", "interleukin 18 binding protein isoform", "18 binding protein isoform a", "binding protein isoform a precursor" ] }, { "record_id": "MONDO:0032810", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032810", "0032810", "mim:618550", "618550" ] }, { "record_id": "MONDO:0032810", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte", "maturation", "defect", "oocyte maturation", "maturation defect", "defect 7", "oocyte maturation defect", "maturation defect 7", "oocyte maturation defect 7", "oomd7", "oocyte/zygote/embryo", "arrest", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 7", "oocyte/zygote/embryo maturation arrest", "maturation arrest 7", "oocyte/zygote/embryo maturation arrest 7" ] }, { "record_id": "MONDO:0032810", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032810", "record_type": "disease", "section": "proteins", "phraselist": [ "q96rd7", "q96rd7 1", "panx1_human", "np_056183", "glycoprotein", "panx1", "mrs1", "oomd7", "ozema7", "pro6028", "px1", "unq2529" ] }, { "record_id": "MONDO:0032810", "record_type": "disease", "section": "proteins", "phraselist": [ "pannexin", "pannexin 1", "panx1", "innexin" ] }, { "record_id": "MONDO:0032811", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032811", "0032811", "mim:618555", "618555" ] }, { "record_id": "MONDO:0032811", "record_type": "disease", "section": "disease_name", "phraselist": [ "night", "blindness", "congenital", "stationary", "type1i", "night blindness", "congenital stationary", "blindness congenital", "stationary type1i", "night blindness congenital", "blindness congenital stationary", "congenital stationary type1i", "night blindness congenital stationary", "csnb1i", "type", "1i", "type 1i", "stationary type", "congenital stationary type", "stationary type 1i", "congenital stationary type 1i", "stationary 1i", "congenital stationary 1i" ] }, { "record_id": "MONDO:0032811", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032811", "record_type": "disease", "section": "proteins", "phraselist": [ "q02846", "q02846 1", "guc2d_human", "np_000171", "glycoprotein", "gucy2d", "cacd1", "cacd", "cg", "cg e", "cord5", "cord6", "csnb1i", "cygd", "guc1a4", "guc2d", "lca1", "lca", "rcd2", "retgc", "retgc 1", "retgc1", "ros", "gc1", "ros gc1", "rosgc" ] }, { "record_id": "MONDO:0032811", "record_type": "disease", "section": "proteins", "phraselist": [ "retinal", "guanylyl", "cyclase", "retinal guanylyl", "guanylyl cyclase", "cyclase 1", "retinal guanylyl cyclase", "guanylyl cyclase 1", "retinal guanylyl cyclase 1", "4.6.1.2", "cg", "cg e", "guanylate", "2d", "guanylate cyclase", "cyclase 2d", "guanylate cyclase 2d", "2d retinal", "cyclase 2d retinal", "guanylate cyclase 2d retinal", "retgc", "retgc 1", "ros", "gc", "ros gc", "rod", "outer", "segment", "membrane", "rod outer", "outer segment", "segment membrane", "membrane guanylate", "rod outer segment", "outer segment membrane", "segment membrane guanylate", "membrane guanylate cyclase", "rod outer segment membrane", "outer segment membrane guanylate", "segment membrane guanylate cyclase", "rod outer segment membrane guanylate", "outer segment membrane guanylate cyclase", "central", "areolar", "choroidal", "dystrophy", "central areolar", "areolar choroidal", "choroidal dystrophy", "central areolar choroidal", "areolar choroidal dystrophy", "central areolar choroidal dystrophy", "cone", "cone rod", "rod dystrophy", "dystrophy 6", "cone rod dystrophy", "rod dystrophy 6", "cone rod dystrophy 6", "retina", "specific", "retina specific", "2d membrane", "membrane retina", "cyclase 2d membrane", "membrane retina specific", "guanylate cyclase 2d membrane", "2d membrane retina", "retinal guanylate", "retinal guanylate cyclase", "guanylate cyclase 1", "retinal guanylate cyclase 1", "precursor", "1 precursor", "cyclase 1 precursor", "guanylyl cyclase 1 precursor", "retinal guanylyl cyclase 1 precursor" ] }, { "record_id": "MONDO:0032814", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032814", "0032814", "mim:618564", "618564" ] }, { "record_id": "MONDO:0032814", "record_type": "disease", "section": "disease_name", "phraselist": [ "microangiopathy", "and", "leukoencephalopathy", "pontine", "autosomal", "dominant", "microangiopathy and", "and leukoencephalopathy", "autosomal dominant", "microangiopathy and leukoencephalopathy", "leukoencephalopathy pontine", "pontine autosomal", "and leukoencephalopathy pontine", "pontine autosomal dominant", "microangiopathy and leukoencephalopathy pontine", "leukoencephalopathy pontine autosomal", "padmal", "with", "dominant microangiopathy", "microangiopathy with", "with leukoencephalopathy", "autosomal dominant microangiopathy", "dominant microangiopathy with", "microangiopathy with leukoencephalopathy", "pontine autosomal dominant microangiopathy", "autosomal dominant microangiopathy with", "dominant microangiopathy with leukoencephalopathy", "pontine autosomal dominant microangiopathy with", "autosomal dominant microangiopathy with leukoencephalopathy" ] }, { "record_id": "MONDO:0032814", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032814", "record_type": "disease", "section": "proteins", "phraselist": [ "p02462", "p02462 1", "co4a1_human", "np_001290039", "glycoprotein", "col4a1", "bsvd1", "bsvd", "col4a1s", "padmal", "rator" ] }, { "record_id": "MONDO:0032814", "record_type": "disease", "section": "proteins", "phraselist": [ "collagen", "alpha", "iv", "chain", "collagen alpha", "alpha 1", "1 iv", "collagen alpha 1", "alpha 1 iv", "iv chain", "collagen alpha 1 iv", "1 iv chain", "alpha 1 iv chain", "col4a1", "nc1", "domain", "col4a1 nc1", "nc1 domain", "col4a1 nc1 domain", "arresten", "polypeptide", "collagen iv", "1 polypeptide", "iv alpha", "alpha 1 polypeptide", "collagen iv alpha", "iv alpha 1", "collagen iv alpha 1", "iv alpha 1 polypeptide", "isoform", "precursor", "chain isoform", "isoform 2", "2 precursor", "chain isoform 2", "isoform 2 precursor", "iv chain isoform", "chain isoform 2 precursor", "1 iv chain isoform", "iv chain isoform 2", "of", "basement", "membrane", "collagen of", "of basement", "basement membrane", "1 chain", "collagen of basement", "of basement membrane", "membrane alpha", "alpha 1 chain", "collagen of basement membrane", "basement membrane alpha", "membrane alpha 1", "of basement membrane alpha", "basement membrane alpha 1", "membrane alpha 1 chain" ] }, { "record_id": "MONDO:0032816", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032816", "0032816", "mim:618569", "618569" ] }, { "record_id": "MONDO:0032816", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "ataxia", "hypotonia", "and", "microcephaly", "neurodevelopmental disorder", "disorder with", "with ataxia", "and microcephaly", "neurodevelopmental disorder with", "disorder with ataxia", "ataxia hypotonia", "hypotonia and", "neurodevelopmental disorder with ataxia", "with ataxia hypotonia", "hypotonia and microcephaly", "disorder with ataxia hypotonia", "ataxia hypotonia and", "nedahm" ] }, { "record_id": "MONDO:0032816", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032816", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n300", "q8n300 1", "svbp_human", "np_955374", "svbp", "ccdc23", "nedahm", "spg94" ] }, { "record_id": "MONDO:0032816", "record_type": "disease", "section": "proteins", "phraselist": [ "small", "vasohibin", "binding", "protein", "small vasohibin", "vasohibin binding", "binding protein", "small vasohibin binding", "vasohibin binding protein", "small vasohibin binding protein", "coiled", "coil", "domain", "containing", "23", "coiled coil", "coil domain", "domain containing", "containing protein", "protein 23", "coiled coil domain", "coil domain containing", "domain containing protein", "containing protein 23", "coiled coil domain containing", "coil domain containing protein", "domain containing protein 23", "coiled coil domain containing protein", "coil domain containing protein 23", "containing 23", "domain containing 23", "coil domain containing 23", "coiled coil domain containing 23" ] }, { "record_id": "MONDO:0032818", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032818", "0032818", "mim:618572", "618572" ] }, { "record_id": "MONDO:0032818", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "cerebellar", "hypoplasia", "and", "spasticity", "neurodevelopmental disorder", "disorder with", "with cerebellar", "cerebellar hypoplasia", "hypoplasia and", "and spasticity", "neurodevelopmental disorder with", "disorder with cerebellar", "with cerebellar hypoplasia", "cerebellar hypoplasia and", "hypoplasia and spasticity", "neurodevelopmental disorder with cerebellar", "disorder with cerebellar hypoplasia", "with cerebellar hypoplasia and", "cerebellar hypoplasia and spasticity", "neurodevelopmental disorder with cerebellar hypoplasia", "disorder with cerebellar hypoplasia and", "with cerebellar hypoplasia and spasticity", "nedchs" ] }, { "record_id": "MONDO:0032818", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032818", "record_type": "disease", "section": "proteins", "phraselist": [ "q75qn2", "q75qn2 1", "int8_human", "np_060334", "ints8", "c8orf52", "int8", "nedchs" ] }, { "record_id": "MONDO:0032818", "record_type": "disease", "section": "proteins", "phraselist": [ "integrator", "complex", "subunit", "integrator complex", "complex subunit", "subunit 8", "integrator complex subunit", "complex subunit 8", "integrator complex subunit 8", "int8", "protein", "kaonashi", "protein kaonashi", "kaonashi 1", "protein kaonashi 1" ] }, { "record_id": "MONDO:0032820", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032820", "0032820", "mim:618577", "618577" ] }, { "record_id": "MONDO:0032820", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "structural", "brain", "anomalies", "and", "dysmorphic", "facies", "neurodevelopmental disorder", "disorder with", "with structural", "structural brain", "brain anomalies", "anomalies and", "and dysmorphic", "dysmorphic facies", "neurodevelopmental disorder with", "disorder with structural", "with structural brain", "structural brain anomalies", "brain anomalies and", "anomalies and dysmorphic", "and dysmorphic facies", "neurodevelopmental disorder with structural", "disorder with structural brain", "with structural brain anomalies", "structural brain anomalies and", "brain anomalies and dysmorphic", "anomalies and dysmorphic facies", "neurodevelopmental disorder with structural brain", "disorder with structural brain anomalies", "with structural brain anomalies and", "structural brain anomalies and dysmorphic", "brain anomalies and dysmorphic facies", "nedbaf" ] }, { "record_id": "MONDO:0032820", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032820", "record_type": "disease", "section": "proteins", "phraselist": [ "p60763", "p60763 1", "rac3_human", "np_005043", "glycoprotein", "rac3" ] }, { "record_id": "MONDO:0032820", "record_type": "disease", "section": "proteins", "phraselist": [ "ras", "related", "c3", "botulinum", "toxin", "substrate", "ras related", "related c3", "c3 botulinum", "botulinum toxin", "toxin substrate", "substrate 3", "ras related c3", "related c3 botulinum", "c3 botulinum toxin", "botulinum toxin substrate", "toxin substrate 3", "ras related c3 botulinum", "related c3 botulinum toxin", "c3 botulinum toxin substrate", "botulinum toxin substrate 3", "ras related c3 botulinum toxin", "related c3 botulinum toxin substrate", "c3 botulinum toxin substrate 3", "3.6.5.2", "p21", "rac3", "p21 rac3", "rho", "family", "small", "gtp", "binding", "protein", "rho family", "small gtp", "gtp binding", "binding protein", "protein rac3", "3 rho", "family small", "small gtp binding", "gtp binding protein", "binding protein rac3", "substrate 3 rho", "3 rho family", "rho family small", "family small gtp", "small gtp binding protein", "gtp binding protein rac3", "toxin substrate 3 rho", "substrate 3 rho family", "rho family small gtp", "family small gtp binding", "small gtp binding protein rac3", "isoform", "3 isoform", "isoform 1", "substrate 3 isoform", "3 isoform 1", "toxin substrate 3 isoform", "substrate 3 isoform 1", "botulinum toxin substrate 3 isoform", "toxin substrate 3 isoform 1" ] }, { "record_id": "MONDO:0032824", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032824", "0032824", "mim:618590", "618590" ] }, { "record_id": "MONDO:0032824", "record_type": "disease", "section": "disease_name", "phraselist": [ "glycosylphosphatidylinositol", "biosynthesis", "defect", "21", "glycosylphosphatidylinositol biosynthesis", "biosynthesis defect", "defect 21", "glycosylphosphatidylinositol biosynthesis defect", "biosynthesis defect 21", "glycosylphosphatidylinositol biosynthesis defect 21", "gpibd21", "neurodevelopmental", "disorder", "with", "brain", "anomalies", "seizures", "and", "scoliosis", "neurodevelopmental disorder", "disorder with", "with brain", "brain anomalies", "and scoliosis", "neurodevelopmental disorder with", "disorder with brain", "with brain anomalies", "anomalies seizures", "seizures and", "neurodevelopmental disorder with brain", "disorder with brain anomalies", "brain anomalies seizures", "seizures and scoliosis", "neurodevelopmental disorder with brain anomalies", "with brain anomalies seizures", "anomalies seizures and" ] }, { "record_id": "MONDO:0032824", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032824", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h490", "q9h490 1", "pigu_human", "np_536724", "glycoprotein", "pigu", "cdc91l1", "gab1", "gpibd21", "nedbss", "pig", "pig u", "pro9875", "psec0205" ] }, { "record_id": "MONDO:0032824", "record_type": "disease", "section": "proteins", "phraselist": [ "gpi", "anchor", "transamidase", "component", "pigu", "gpi anchor", "anchor transamidase", "transamidase component", "component pigu", "gpi anchor transamidase", "anchor transamidase component", "transamidase component pigu", "gpi anchor transamidase component", "anchor transamidase component pigu", "gpi anchor transamidase component pigu", "cdc91", "cell", "division", "cycle", "91", "s.", "cerevisiae", "homolog", "like", "cell division", "division cycle", "cycle 91", "s. cerevisiae", "like 1", "cdc91 cell", "cell division cycle", "division cycle 91", "91 s.", "cerevisiae homolog", "homolog like", "cdc91 cell division", "cell division cycle 91", "cycle 91 s.", "91 s. cerevisiae", "s. cerevisiae homolog", "homolog like 1", "cdc91 cell division cycle", "division cycle 91 s.", "cycle 91 s. cerevisiae", "cerevisiae homolog like", "protein", "cycle protein", "protein 91", "91 like", "division cycle protein", "cycle protein 91", "protein 91 like", "91 like 1", "cell division cycle protein", "division cycle protein 91", "cycle protein 91 like", "protein 91 like 1", "cell division cycle protein 91", "division cycle protein 91 like", "cycle protein 91 like 1", "and", "actin", "bar", "gpi and", "and actin", "actin bar", "bar homolog", "gpi and actin", "and actin bar", "actin bar homolog", "gpi and actin bar", "and actin bar homolog", "gpi and actin bar homolog", "pig", "gpi transamidase", "component pig", "pig u", "gpi transamidase component", "transamidase component pig", "component pig u", "gpi transamidase component pig", "transamidase component pig u", "gpi transamidase component pig u", "subunit", "transamidase subunit", "subunit pigu", "gpi transamidase subunit", "transamidase subunit pigu", "gpi transamidase subunit pigu", "phosphatidylinositol", "glycan", "biosynthesis", "class", "phosphatidylinositol glycan", "glycan anchor", "anchor biosynthesis", "biosynthesis class", "class u", "u protein", "phosphatidylinositol glycan anchor", "glycan anchor biosynthesis", "anchor biosynthesis class", "biosynthesis class u", "class u protein", "phosphatidylinositol glycan anchor biosynthesis", "glycan anchor biosynthesis class", "anchor biosynthesis class u", "biosynthesis class u protein", "phosphatidylinositol glycan anchor biosynthesis class", "glycan anchor biosynthesis class u", "anchor biosynthesis class u protein", "protein cdc91", "cdc91 like", "protein cdc91 like", "cdc91 like 1", "protein cdc91 like 1", "1 protein", "cycle 91 like", "like 1 protein", "division cycle 91 like", "cycle 91 like 1", "91 like 1 protein", "cell division cycle 91 like", "division cycle 91 like 1", "cycle 91 like 1 protein" ] }, { "record_id": "MONDO:0032827", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032827", "0032827", "mim:618596", "618596" ] }, { "record_id": "MONDO:0032827", "record_type": "disease", "section": "disease_name", "phraselist": [ "epilepsy", "idiopathic", "generalized", "susceptibility", "to", "16", "idiopathic generalized", "susceptibility to", "epilepsy idiopathic", "generalized susceptibility", "to 16", "epilepsy idiopathic generalized", "idiopathic generalized susceptibility", "generalized susceptibility to", "susceptibility to 16", "idiopathic generalized susceptibility to", "eig16", "generalized 16", "idiopathic generalized 16", "epilepsy idiopathic generalized 16" ] }, { "record_id": "MONDO:0032827", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032827", "record_type": "disease", "section": "proteins", "phraselist": [ "q12791", "q12791 1", "kcma1_human", "np_001014797", "glycoprotein", "kcnma1", "bktm", "cadeds", "ieg16", "kcnma", "kca1.1", "liwas", "maxik", "pnkd3", "sakca", "slo", "alpha", "slo alpha", "slo1", "ba205k10.1", "hslo", "mslo1" ] }, { "record_id": "MONDO:0032827", "record_type": "disease", "section": "proteins", "phraselist": [ "calcium", "activated", "potassium", "channel", "subunit", "alpha", "calcium activated", "activated potassium", "potassium channel", "channel subunit", "subunit alpha", "alpha 1", "calcium activated potassium", "activated potassium channel", "potassium channel subunit", "channel subunit alpha", "subunit alpha 1", "calcium activated potassium channel", "activated potassium channel subunit", "potassium channel subunit alpha", "channel subunit alpha 1", "calcium activated potassium channel subunit", "activated potassium channel subunit alpha", "potassium channel subunit alpha 1", "bk", "bk channel", "channel alpha", "alpha subunit", "bk channel alpha", "channel alpha subunit", "bk channel alpha subunit", "bkca", "bkca alpha", "bkca alpha subunit", "isoform", "1 isoform", "isoform a", "alpha 1 isoform", "1 isoform a", "subunit alpha 1 isoform", "alpha 1 isoform a", "channel subunit alpha 1 isoform", "subunit alpha 1 isoform a", "subfamily", "subfamily m", "m subunit", "channel subfamily", "subfamily m subunit", "m subunit alpha", "potassium channel subfamily", "channel subfamily m", "subfamily m subunit alpha", "m subunit alpha 1", "activated potassium channel subfamily", "potassium channel subfamily m", "channel subfamily m subunit", "subfamily m subunit alpha 1", "vca", "k vca", "vca alpha", "k vca alpha", "kca1.1", "maxi", "maxi k", "k channel", "maxi k channel", "maxik", "slo", "homolog", "slo homolog", "slo alpha", "slo1", "slowpoke", "slowpoke homolog", "big", "big potassium", "big potassium channel", "potassium channel alpha", "big potassium channel alpha", "potassium channel alpha subunit", "big potassium channel alpha subunit", "hslo", "channel hslo", "k channel hslo", "maxi k channel hslo", "large", "conductance", "member", "activated large", "large conductance", "conductance subfamily", "m alpha", "member 1", "channel calcium", "calcium activated large", "activated large conductance", "large conductance subfamily", "conductance subfamily m", "subfamily m alpha", "alpha member", "potassium channel calcium", "channel calcium activated", "calcium activated large conductance", "activated large conductance subfamily", "large conductance subfamily m", "conductance subfamily m alpha", "m alpha member", "alpha member 1", "potassium channel calcium activated", "channel calcium activated large", "calcium activated large conductance subfamily", "activated large conductance subfamily m", "large conductance subfamily m alpha", "subfamily m alpha member", "m alpha member 1", "potassium large", "conductance calcium", "activated channel", "potassium large conductance", "large conductance calcium", "conductance calcium activated", "calcium activated channel", "potassium large conductance calcium", "large conductance calcium activated", "conductance calcium activated channel", "activated channel subfamily", "potassium large conductance calcium activated", "large conductance calcium activated channel", "calcium activated channel subfamily", "activated channel subfamily m", "stretch", "kca", "stretch activated", "activated kca", "kca channel", "stretch activated kca", "activated kca channel", "stretch activated kca channel" ] }, { "record_id": "MONDO:0032828", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032828", "0032828", "mim:618598", "618598" ] }, { "record_id": "MONDO:0032828", "record_type": "disease", "section": "disease_name", "phraselist": [ "spastic", "tetraplegia", "and", "axial", "hypotonia", "progressive", "spastic tetraplegia", "tetraplegia and", "and axial", "axial hypotonia", "spastic tetraplegia and", "tetraplegia and axial", "and axial hypotonia", "hypotonia progressive", "spastic tetraplegia and axial", "tetraplegia and axial hypotonia", "axial hypotonia progressive", "spastic tetraplegia and axial hypotonia", "and axial hypotonia progressive", "stahp" ] }, { "record_id": "MONDO:0032828", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032828", "record_type": "disease", "section": "proteins", "phraselist": [ "p00441", "p00441 1", "sodc_human", "np_000445", "glycoprotein", "sod1", "als1", "als", "hel", "44", "hel s", "s 44", "hel s 44", "ipoa", "sod", "stahp", "hsod1", "homodimer" ] }, { "record_id": "MONDO:0032828", "record_type": "disease", "section": "proteins", "phraselist": [ "superoxide", "dismutase", "cu", "zn", "superoxide dismutase", "cu zn", "dismutase cu", "superoxide dismutase cu", "dismutase cu zn", "superoxide dismutase cu zn", "1.15.1.1", "1.8.", "1.8. .", "cu/zn", "cu/zn superoxide", "cu/zn superoxide dismutase", "hydrogen", "sulfide", "oxidase", "hydrogen sulfide", "sulfide oxidase", "hydrogen sulfide oxidase", "sod", "soluble", "sod soluble", "dismutase 1", "superoxide dismutase 1", "epididymis", "secretory", "protein", "li", "44", "epididymis secretory", "secretory protein", "protein li", "li 44", "epididymis secretory protein", "secretory protein li", "protein li 44", "epididymis secretory protein li", "secretory protein li 44", "epididymis secretory protein li 44", "hsod1", "indophenoloxidase", "indophenoloxidase a", "1 soluble", "dismutase 1 soluble", "superoxide dismutase 1 soluble", "cystolic", "dismutase cystolic", "superoxide dismutase cystolic" ] }, { "record_id": "MONDO:0032829", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032829", "0032829", "mim:618603", "618603" ] }, { "record_id": "MONDO:0032829", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hypotonia", "and", "variable", "intellectual", "behavioral", "abnormalities", "neurodevelopmental disorder", "disorder with", "with hypotonia", "hypotonia and", "and variable", "variable intellectual", "intellectual and", "and behavioral", "behavioral abnormalities", "neurodevelopmental disorder with", "disorder with hypotonia", "with hypotonia and", "hypotonia and variable", "and variable intellectual", "variable intellectual and", "intellectual and behavioral", "and behavioral abnormalities", "neurodevelopmental disorder with hypotonia", "disorder with hypotonia and", "with hypotonia and variable", "hypotonia and variable intellectual", "and variable intellectual and", "variable intellectual and behavioral", "intellectual and behavioral abnormalities", "neurodevelopmental disorder with hypotonia and", "disorder with hypotonia and variable", "with hypotonia and variable intellectual", "hypotonia and variable intellectual and", "and variable intellectual and behavioral", "variable intellectual and behavioral abnormalities", "nedhib", "polr2a", "related", "disorders", "polr2a related", "related disorders", "polr2a related disorders", "associated", "disability", "polr2a associated", "associated neurodevelopmental", "neurodevelopmental disability", "polr2a associated neurodevelopmental", "associated neurodevelopmental disability", "polr2a associated neurodevelopmental disability", "related disorder", "polr2a related disorder" ] }, { "record_id": "MONDO:0032829", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032829", "record_type": "disease", "section": "proteins", "phraselist": [ "p24928", "p24928 1", "rpb1_human", "np_000928", "glycoprotein", "polr2a", "nedhib", "polr2", "polra", "rpb1", "rpbh1", "rpo2", "rpol2", "rpiils", "hrpb220", "hsrpb1" ] }, { "record_id": "MONDO:0032829", "record_type": "disease", "section": "proteins", "phraselist": [ "dna", "directed", "rna", "polymerase", "ii", "subunit", "rpb1", "dna directed", "directed rna", "rna polymerase", "polymerase ii", "ii subunit", "subunit rpb1", "dna directed rna", "directed rna polymerase", "rna polymerase ii", "polymerase ii subunit", "ii subunit rpb1", "dna directed rna polymerase", "directed rna polymerase ii", "rna polymerase ii subunit", "polymerase ii subunit rpb1", "dna directed rna polymerase ii", "directed rna polymerase ii subunit", "rna polymerase ii subunit rpb1", "2.7.7.48", "2.7.7.6", "3'", "5'", "exoribonuclease", "3' 5'", "5' exoribonuclease", "3' 5' exoribonuclease", "3.1.13.", "largest", "220", "kd", "ii largest", "largest subunit", "ii 220", "220 kd", "kd subunit", "polymerase ii largest", "ii largest subunit", "subunit rna", "polymerase ii 220", "ii 220 kd", "220 kd subunit", "rna polymerase ii largest", "polymerase ii largest subunit", "largest subunit rna", "subunit rna polymerase", "rna polymerase ii 220", "polymerase ii 220 kd", "ii 220 kd subunit", "directed rna polymerase ii largest", "rna polymerase ii largest subunit", "ii largest subunit rna", "largest subunit rna polymerase", "subunit rna polymerase ii", "rna polymerase ii 220 kd", "polymerase ii 220 kd subunit", "subunit a", "ii subunit a", "polymerase ii subunit a", "rna polymerase ii subunit a", "iii", "polymerase iii", "iii largest", "rna polymerase iii", "polymerase iii largest", "iii largest subunit", "directed rna polymerase iii", "rna polymerase iii largest", "polymerase iii largest subunit", "dna directed rna polymerase iii", "directed rna polymerase iii largest", "rna polymerase iii largest subunit", "b1", "subunit b1", "ii subunit b1", "polymerase ii subunit b1", "rna polymerase ii subunit b1", "rna directed", "rna directed rna", "rna directed rna polymerase", "rna directed rna polymerase ii", "polypeptide", "220kda", "polypeptide a", "polymerase rna", "rna ii", "ii dna", "directed polypeptide", "a 220kda", "ii dna directed", "dna directed polypeptide", "directed polypeptide a", "polypeptide a 220kda", "polymerase rna ii", "rna ii dna", "dna directed polypeptide a", "rna ii subunit", "rna ii subunit a" ] }, { "record_id": "MONDO:0032830", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032830", "0032830", "mim:618604", "618604" ] }, { "record_id": "MONDO:0032830", "record_type": "disease", "section": "disease_name", "phraselist": [ "snijders", "blok", "fisher", "syndrome", "snijders blok", "blok fisher", "fisher syndrome", "snijders blok fisher", "blok fisher syndrome", "snijders blok fisher syndrome", "snibfis" ] }, { "record_id": "MONDO:0032830", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032830", "record_type": "disease", "section": "proteins", "phraselist": [ "p20264", "p20264 1", "po3f3_human", "np_006227", "pou3f3", "brn1", "otf8", "snibfis", "brain", "brain 1", "oct", "oct 8" ] }, { "record_id": "MONDO:0032830", "record_type": "disease", "section": "proteins", "phraselist": [ "pou", "domain", "class", "transcription", "factor", "pou domain", "class 3", "transcription factor", "factor 3", "domain class", "3 transcription", "transcription factor 3", "pou domain class", "domain class 3", "class 3 transcription", "3 transcription factor", "pou domain class 3", "class 3 transcription factor", "3 transcription factor 3", "brain", "brain 1", "specific", "homeobox/pou", "protein", "brain specific", "specific homeobox/pou", "homeobox/pou domain", "domain protein", "protein 1", "brain specific homeobox/pou", "specific homeobox/pou domain", "homeobox/pou domain protein", "domain protein 1", "brain specific homeobox/pou domain", "specific homeobox/pou domain protein", "homeobox/pou domain protein 1", "brain specific homeobox/pou domain protein", "specific homeobox/pou domain protein 1", "brn", "brn 1", "otf", "otf 8", "oct", "oct 8", "octamer", "binding", "octamer binding", "binding protein", "protein 8", "octamer binding protein", "binding protein 8", "octamer binding protein 8", "binding transcription", "factor 8", "octamer binding transcription", "binding transcription factor", "transcription factor 8", "octamer binding transcription factor", "binding transcription factor 8", "octamer binding transcription factor 8" ] }, { "record_id": "MONDO:0032832", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032832", "0032832", "mim:618608", "618608" ] }, { "record_id": "MONDO:0032832", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "nasal", "speech", "dysmorphic", "facies", "and", "variable", "skeletal", "anomalies", "intellectual developmental", "developmental disorder", "disorder with", "with nasal", "nasal speech", "dysmorphic facies", "and variable", "variable skeletal", "skeletal anomalies", "intellectual developmental disorder", "developmental disorder with", "disorder with nasal", "with nasal speech", "speech dysmorphic", "facies and", "and variable skeletal", "variable skeletal anomalies", "intellectual developmental disorder with", "developmental disorder with nasal", "disorder with nasal speech", "nasal speech dysmorphic", "speech dysmorphic facies", "dysmorphic facies and", "facies and variable", "and variable skeletal anomalies", "intellectual developmental disorder with nasal", "developmental disorder with nasal speech", "with nasal speech dysmorphic", "nasal speech dysmorphic facies", "dysmorphic facies and variable", "facies and variable skeletal", "idnadfs" ] }, { "record_id": "MONDO:0032832", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032832", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nzn8", "q9nzn8 1", "cnot2_human", "np_001186231", "glycoprotein", "cnot2", "cdc36", "hspc131", "idnadfs", "mstp046", "not2h", "not2" ] }, { "record_id": "MONDO:0032832", "record_type": "disease", "section": "proteins", "phraselist": [ "ccr4", "not", "transcription", "complex", "subunit", "ccr4 not", "not transcription", "transcription complex", "complex subunit", "subunit 2", "ccr4 not transcription", "not transcription complex", "transcription complex subunit", "complex subunit 2", "ccr4 not transcription complex", "not transcription complex subunit", "transcription complex subunit 2", "ccr4 not transcription complex subunit", "not transcription complex subunit 2", "cc", "chemokine", "receptor", "negative", "regulator", "of", "cc chemokine", "chemokine receptor", "receptor 4", "4 negative", "negative regulator", "regulator of", "of transcription", "transcription 2", "cc chemokine receptor", "chemokine receptor 4", "receptor 4 negative", "4 negative regulator", "negative regulator of", "regulator of transcription", "of transcription 2", "cc chemokine receptor 4", "chemokine receptor 4 negative", "receptor 4 negative regulator", "4 negative regulator of", "negative regulator of transcription", "regulator of transcription 2", "cc chemokine receptor 4 negative", "chemokine receptor 4 negative regulator", "receptor 4 negative regulator of", "4 negative regulator of transcription", "negative regulator of transcription 2", "isoform", "2 isoform", "isoform a", "subunit 2 isoform", "2 isoform a", "complex subunit 2 isoform", "subunit 2 isoform a", "transcription complex subunit 2 isoform", "complex subunit 2 isoform a", "associated", "factor", "ccr4 associated", "associated factor", "factor 2", "ccr4 associated factor", "associated factor 2", "ccr4 associated factor 2" ] }, { "record_id": "MONDO:0032833", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032833", "0032833", "mim:618612", "618612" ] }, { "record_id": "MONDO:0032833", "record_type": "disease", "section": "disease_name", "phraselist": [ "lower", "urinary", "tract", "obstruction", "congenital", "lower urinary", "urinary tract", "tract obstruction", "lower urinary tract", "urinary tract obstruction", "obstruction congenital", "lower urinary tract obstruction", "tract obstruction congenital", "urinary tract obstruction congenital", "luto" ] }, { "record_id": "MONDO:0032833", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032833", "record_type": "disease", "section": "proteins", "phraselist": [ "q6zn30", "q6zn30 1", "bnc2_human", "np_060107", "glycoprotein", "bnc2", "bsn2", "luto", "bn2" ] }, { "record_id": "MONDO:0032833", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "protein", "basonuclin", "zinc finger", "finger protein", "protein basonuclin", "basonuclin 2", "zinc finger protein", "finger protein basonuclin", "protein basonuclin 2", "zinc finger protein basonuclin", "finger protein basonuclin 2", "zinc finger protein basonuclin 2", "isoform", "2 isoform", "isoform 1", "basonuclin 2 isoform", "2 isoform 1", "protein basonuclin 2 isoform", "basonuclin 2 isoform 1", "finger protein basonuclin 2 isoform", "protein basonuclin 2 isoform 1" ] }, { "record_id": "MONDO:0032836", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032836", "0032836", "mim:618619", "618619" ] }, { "record_id": "MONDO:0032836", "record_type": "disease", "section": "disease_name", "phraselist": [ "weiss", "kruszka", "syndrome", "weiss kruszka", "kruszka syndrome", "weiss kruszka syndrome", "wska", "znf462", "disorder", "znf462 disorder", "metopic", "ridging", "ptosis", "facial", "dysmorphism", "metopic ridging", "ridging ptosis", "ptosis facial", "facial dysmorphism", "dysmorphism syndrome", "metopic ridging ptosis", "ridging ptosis facial", "ptosis facial dysmorphism", "facial dysmorphism syndrome", "metopic ridging ptosis facial", "ridging ptosis facial dysmorphism", "ptosis facial dysmorphism syndrome", "metopic ridging ptosis facial dysmorphism", "ridging ptosis facial dysmorphism syndrome" ] }, { "record_id": "MONDO:0032836", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032836", "record_type": "disease", "section": "proteins", "phraselist": [ "q96jm2", "q96jm2 1", "zn462_human", "np_067047", "glycoprotein", "znf462", "kiaa1803", "wska", "zfpip", "zfp462" ] }, { "record_id": "MONDO:0032836", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "protein", "462", "zinc finger", "finger protein", "protein 462", "zinc finger protein", "finger protein 462", "zinc finger protein 462", "zfpip", "pbx1", "interacting", "finger pbx1", "pbx1 interacting", "interacting protein", "zinc finger pbx1", "finger pbx1 interacting", "pbx1 interacting protein", "zinc finger pbx1 interacting", "finger pbx1 interacting protein", "zinc finger pbx1 interacting protein", "isoform", "462 isoform", "isoform 1", "protein 462 isoform", "462 isoform 1", "finger protein 462 isoform", "protein 462 isoform 1", "zinc finger protein 462 isoform", "finger protein 462 isoform 1" ] }, { "record_id": "MONDO:0032838", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032838", "0032838", "mim:618622", "618622" ] }, { "record_id": "MONDO:0032838", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "arthrogryposis", "and", "structural", "brain", "anomalies", "neurodevelopmental disorder", "disorder with", "with microcephaly", "and structural", "structural brain", "brain anomalies", "neurodevelopmental disorder with", "disorder with microcephaly", "microcephaly arthrogryposis", "arthrogryposis and", "and structural brain", "structural brain anomalies", "neurodevelopmental disorder with microcephaly", "with microcephaly arthrogryposis", "arthrogryposis and structural", "and structural brain anomalies", "disorder with microcephaly arthrogryposis", "microcephaly arthrogryposis and", "arthrogryposis and structural brain", "nedmaba" ] }, { "record_id": "MONDO:0032838", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032838", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nxe4", "q9nxe4 1", "nsma3_human", "np_001164554", "glycoprotein", "smpd4", "kiaa1418", "nedmaba", "nedmeba", "net13", "nsmase", "nsmase 3", "nsmase3", "skny" ] }, { "record_id": "MONDO:0032838", "record_type": "disease", "section": "proteins", "phraselist": [ "sphingomyelin", "phosphodiesterase", "sphingomyelin phosphodiesterase", "phosphodiesterase 4", "sphingomyelin phosphodiesterase 4", "3.1.4.12", "neutral", "sphingomyelinase", "neutral sphingomyelinase", "sphingomyelinase 3", "neutral sphingomyelinase 3", "iii", "sphingomyelinase iii", "neutral sphingomyelinase iii", "nsmase", "nsmase 3", "nsmase3", "isoform", "4 isoform", "isoform 3", "phosphodiesterase 4 isoform", "4 isoform 3", "sphingomyelin phosphodiesterase 4 isoform", "phosphodiesterase 4 isoform 3", "sphingomyelin phosphodiesterase 4 isoform 3", "membrane", "neutral membrane", "4 neutral", "membrane neutral", "phosphodiesterase 4 neutral", "4 neutral membrane", "neutral membrane neutral", "membrane neutral sphingomyelinase", "sphingomyelin phosphodiesterase 4 neutral", "phosphodiesterase 4 neutral membrane", "neutral membrane neutral sphingomyelinase", "membrane neutral sphingomyelinase 3" ] }, { "record_id": "MONDO:0032841", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032841", "0032841", "mim:618632", "618632" ] }, { "record_id": "MONDO:0032841", "record_type": "disease", "section": "disease_name", "phraselist": [ "usher", "syndrome", "type", "1m", "usher syndrome", "type 1m", "syndrome type", "usher syndrome type", "syndrome type 1m", "usher syndrome type 1m", "ush1m", "syndrome 1m", "usher syndrome 1m" ] }, { "record_id": "MONDO:0032841", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032841", "record_type": "disease", "section": "proteins", "phraselist": [ "b1ak53", "b1ak53 1", "espn_human", "np_113663", "glycoprotein", "espn", "dfna91", "dfnb36", "lp2654", "ush1m" ] }, { "record_id": "MONDO:0032841", "record_type": "disease", "section": "proteins", "phraselist": [ "espin", "autosomal", "recessive", "deafness", "type", "36", "protein", "autosomal recessive", "recessive deafness", "deafness type", "type 36", "36 protein", "autosomal recessive deafness", "recessive deafness type", "deafness type 36", "type 36 protein", "autosomal recessive deafness type", "recessive deafness type 36", "deafness type 36 protein", "autosomal recessive deafness type 36", "recessive deafness type 36 protein", "ectoplasmic", "specialization", "ectoplasmic specialization", "specialization protein", "ectoplasmic specialization protein", "isoform", "espin isoform", "isoform 1", "espin isoform 1" ] }, { "record_id": "MONDO:0032844", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032844", "0032844", "mim:618641", "618641" ] }, { "record_id": "MONDO:0032844", "record_type": "disease", "section": "disease_name", "phraselist": [ "infantile", "liver", "failure", "syndrome", "infantile liver", "liver failure", "failure syndrome", "syndrome 3", "infantile liver failure", "liver failure syndrome", "failure syndrome 3", "infantile liver failure syndrome", "liver failure syndrome 3", "infantile liver failure syndrome 3", "ilfs3" ] }, { "record_id": "MONDO:0032844", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032844", "record_type": "disease", "section": "proteins", "phraselist": [ "q6nuq1", "q6nuq1 1", "rint1_human", "np_068749", "glycoprotein", "rint1", "ilfs3", "rint", "rint 1" ] }, { "record_id": "MONDO:0032844", "record_type": "disease", "section": "proteins", "phraselist": [ "rad50", "interacting", "protein", "rad50 interacting", "interacting protein", "protein 1", "rad50 interacting protein", "interacting protein 1", "rad50 interacting protein 1", "hsrint", "hsrint 1", "interactor", "rad50 interactor", "interactor 1", "rad50 interactor 1", "isoform", "1 isoform", "isoform 1", "protein 1 isoform", "1 isoform 1", "interacting protein 1 isoform", "protein 1 isoform 1", "rad50 interacting protein 1 isoform", "interacting protein 1 isoform 1", "rint", "rint 1" ] }, { "record_id": "MONDO:0032851", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032851", "0032851", "mim:618653", "618653" ] }, { "record_id": "MONDO:0032851", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "impaired", "language", "and", "dysmorphic", "facies", "intellectual developmental", "developmental disorder", "disorder with", "with impaired", "impaired language", "language and", "and dysmorphic", "dysmorphic facies", "intellectual developmental disorder", "developmental disorder with", "disorder with impaired", "with impaired language", "impaired language and", "language and dysmorphic", "and dysmorphic facies", "intellectual developmental disorder with", "developmental disorder with impaired", "disorder with impaired language", "with impaired language and", "impaired language and dysmorphic", "language and dysmorphic facies", "intellectual developmental disorder with impaired", "developmental disorder with impaired language", "disorder with impaired language and", "with impaired language and dysmorphic", "impaired language and dysmorphic facies", "iddilf" ] }, { "record_id": "MONDO:0032851", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032851", "record_type": "disease", "section": "proteins", "phraselist": [ "p26196", "p26196 1", "ddx6_human", "np_001244120", "glycoprotein", "ddx6", "hlr2", "iddilf", "p54", "rck", "rck/p54" ] }, { "record_id": "MONDO:0032851", "record_type": "disease", "section": "proteins", "phraselist": [ "probable", "atp", "dependent", "rna", "helicase", "ddx6", "probable atp", "atp dependent", "dependent rna", "rna helicase", "helicase ddx6", "probable atp dependent", "atp dependent rna", "dependent rna helicase", "rna helicase ddx6", "probable atp dependent rna", "atp dependent rna helicase", "dependent rna helicase ddx6", "probable atp dependent rna helicase", "atp dependent rna helicase ddx6", "3.6.4.13", "p54", "helicase p54", "rna helicase p54", "dependent rna helicase p54", "atp dependent rna helicase p54", "dead", "asp", "glu", "ala", "box", "asp glu", "glu ala", "ala asp", "box helicase", "helicase 6", "dead asp", "asp glu ala", "glu ala asp", "asp box", "box helicase 6", "dead asp glu", "asp glu ala asp", "ala asp box", "asp box helicase", "dead asp glu ala", "glu ala asp box", "ala asp box helicase", "asp box helicase 6", "polypeptide", "box polypeptide", "polypeptide 6", "box polypeptide 6", "asp box polypeptide", "ala asp box polypeptide", "asp box polypeptide 6", "protein", "dead box", "box protein", "protein 6", "dead box protein", "box protein 6", "dead box protein 6", "box 6", "dead box 6", "dead/h", "asp/his", "54kd", "ala asp/his", "dead/h asp", "glu ala asp/his", "asp/his box", "6 rna", "helicase 54kd", "dead/h asp glu", "asp glu ala asp/his", "ala asp/his box", "asp/his box polypeptide", "polypeptide 6 rna", "6 rna helicase", "rna helicase 54kd", "dead/h asp glu ala", "glu ala asp/his box", "ala asp/his box polypeptide", "asp/his box polypeptide 6", "box polypeptide 6 rna", "polypeptide 6 rna helicase", "oncogene", "rck", "oncogene rck", "isoform", "ddx6 isoform", "isoform 1", "helicase ddx6 isoform", "ddx6 isoform 1", "rna helicase ddx6 isoform", "helicase ddx6 isoform 1", "dependent rna helicase ddx6 isoform", "rna helicase ddx6 isoform 1" ] }, { "record_id": "MONDO:0032853", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032853", "0032853", "mim:618655", "618655" ] }, { "record_id": "MONDO:0032853", "record_type": "disease", "section": "disease_name", "phraselist": [ "myopathy", "distal", "adult", "onset", "autosomal", "dominant", "adult onset", "autosomal dominant", "myopathy distal", "distal 6", "6 adult", "onset autosomal", "6 adult onset", "adult onset autosomal", "onset autosomal dominant", "myopathy distal 6", "distal 6 adult", "adult onset autosomal dominant", "mpd6" ] }, { "record_id": "MONDO:0032853", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032853", "record_type": "disease", "section": "proteins", "phraselist": [ "p35609", "p35609 1", "actn2_human", "np_001094", "glycoprotein", "actn2", "cmd1aa", "cmh23", "cmyo8", "cmyp8", "mpd6", "myocoz" ] }, { "record_id": "MONDO:0032853", "record_type": "disease", "section": "proteins", "phraselist": [ "alpha", "actinin", "alpha actinin", "actinin 2", "alpha actinin 2", "skeletal", "muscle", "isoform", "actinin skeletal", "skeletal muscle", "muscle isoform", "isoform 2", "alpha actinin skeletal", "actinin skeletal muscle", "skeletal muscle isoform", "muscle isoform 2", "alpha actinin skeletal muscle", "actinin skeletal muscle isoform", "skeletal muscle isoform 2", "alpha actinin skeletal muscle isoform", "actinin skeletal muscle isoform 2", "actin", "cross", "linking", "protein", "f actin", "actin cross", "cross linking", "linking protein", "f actin cross", "actin cross linking", "cross linking protein", "f actin cross linking", "actin cross linking protein", "f actin cross linking protein", "2 isoform", "isoform 1", "actinin 2 isoform", "2 isoform 1", "alpha actinin 2 isoform", "actinin 2 isoform 1", "alpha actinin 2 isoform 1" ] }, { "record_id": "MONDO:0032854", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032854", "0032854", "mim:618658", "618658" ] }, { "record_id": "MONDO:0032854", "record_type": "disease", "section": "disease_name", "phraselist": [ "zimmermann", "laband", "syndrome", "zimmermann laband", "laband syndrome", "syndrome 3", "zimmermann laband syndrome", "laband syndrome 3", "zimmermann laband syndrome 3", "zls3" ] }, { "record_id": "MONDO:0032854", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032854", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ugi6", "q9ugi6 1", "kcnn3_human", "np_001191016", "glycoprotein", "kcnn3", "k3", "kca2.3", "sk3", "skca3", "zls3", "hsk3" ] }, { "record_id": "MONDO:0032854", "record_type": "disease", "section": "proteins", "phraselist": [ "small", "conductance", "calcium", "activated", "potassium", "channel", "protein", "small conductance", "conductance calcium", "calcium activated", "activated potassium", "potassium channel", "channel protein", "protein 3", "small conductance calcium", "conductance calcium activated", "calcium activated potassium", "activated potassium channel", "potassium channel protein", "channel protein 3", "small conductance calcium activated", "conductance calcium activated potassium", "calcium activated potassium channel", "activated potassium channel protein", "potassium channel protein 3", "small conductance calcium activated potassium", "conductance calcium activated potassium channel", "calcium activated potassium channel protein", "activated potassium channel protein 3", "kca2.3", "sk3", "skca", "skca 3", "skca3", "intermediate/small", "subfamily", "alpha", "member", "activated intermediate/small", "intermediate/small conductance", "conductance subfamily", "subfamily n", "n alpha", "member 3", "channel calcium", "calcium activated intermediate/small", "activated intermediate/small conductance", "intermediate/small conductance subfamily", "conductance subfamily n", "subfamily n alpha", "alpha member", "potassium channel calcium", "channel calcium activated", "calcium activated intermediate/small conductance", "activated intermediate/small conductance subfamily", "intermediate/small conductance subfamily n", "conductance subfamily n alpha", "n alpha member", "alpha member 3", "potassium channel calcium activated", "channel calcium activated intermediate/small", "calcium activated intermediate/small conductance subfamily", "activated intermediate/small conductance subfamily n", "intermediate/small conductance subfamily n alpha", "subfamily n alpha member", "n alpha member 3", "potassium intermediate/small", "activated channel", "potassium intermediate/small conductance", "intermediate/small conductance calcium", "calcium activated channel", "channel subfamily", "n member", "potassium intermediate/small conductance calcium", "intermediate/small conductance calcium activated", "conductance calcium activated channel", "activated channel subfamily", "channel subfamily n", "subfamily n member", "n member 3", "potassium intermediate/small conductance calcium activated", "intermediate/small conductance calcium activated channel", "calcium activated channel subfamily", "activated channel subfamily n", "subfamily n member 3", "channel 3", "potassium channel 3", "activated potassium channel 3", "calcium activated potassium channel 3", "isoform", "3 isoform", "isoform c", "protein 3 isoform", "3 isoform c", "channel protein 3 isoform", "protein 3 isoform c", "potassium channel protein 3 isoform", "channel protein 3 isoform c" ] }, { "record_id": "MONDO:0032855", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032855", "0032855", "mim:618659", "618659" ] }, { "record_id": "MONDO:0032855", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "dysmorphic", "facies", "and", "distal", "skeletal", "anomalies", "neurodevelopmental disorder", "disorder with", "with dysmorphic", "dysmorphic facies", "facies and", "and distal", "distal skeletal", "skeletal anomalies", "neurodevelopmental disorder with", "disorder with dysmorphic", "with dysmorphic facies", "dysmorphic facies and", "facies and distal", "and distal skeletal", "distal skeletal anomalies", "neurodevelopmental disorder with dysmorphic", "disorder with dysmorphic facies", "with dysmorphic facies and", "dysmorphic facies and distal", "facies and distal skeletal", "and distal skeletal anomalies", "neurodevelopmental disorder with dysmorphic facies", "disorder with dysmorphic facies and", "with dysmorphic facies and distal", "dysmorphic facies and distal skeletal", "facies and distal skeletal anomalies", "neddfsa" ] }, { "record_id": "MONDO:0032855", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032855", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ulj6", "q9ulj6 1", "zmiz1_human", "np_065071", "glycoprotein", "zmiz1", "kiaa1224", "miz", "neddfsa", "rai17", "trafip10", "zimp10" ] }, { "record_id": "MONDO:0032855", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "miz", "domain", "containing", "protein", "zinc finger", "finger miz", "miz domain", "domain containing", "containing protein", "protein 1", "zinc finger miz", "finger miz domain", "miz domain containing", "domain containing protein", "containing protein 1", "zinc finger miz domain", "finger miz domain containing", "miz domain containing protein", "domain containing protein 1", "zinc finger miz domain containing", "finger miz domain containing protein", "miz domain containing protein 1", "pias", "like", "zimp10", "pias like", "like protein", "protein zimp10", "pias like protein", "like protein zimp10", "pias like protein zimp10", "retinoic", "acid", "induced", "17", "retinoic acid", "acid induced", "induced protein", "protein 17", "retinoic acid induced", "acid induced protein", "induced protein 17", "retinoic acid induced protein", "acid induced protein 17", "retinoic acid induced protein 17", "induced 17", "acid induced 17", "retinoic acid induced 17", "miz1", "on", "chromosome", "10", "finger containing", "protein on", "on chromosome", "chromosome 10", "zinc finger containing", "containing miz1", "miz1 pias", "like protein on", "protein on chromosome", "on chromosome 10", "finger containing miz1", "miz1 pias like", "pias like protein on", "like protein on chromosome", "protein on chromosome 10", "zinc finger containing miz1", "containing miz1 pias", "miz1 pias like protein", "pias like protein on chromosome", "like protein on chromosome 10" ] }, { "record_id": "MONDO:0032857", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032857", "0032857", "mim:618662", "618662" ] }, { "record_id": "MONDO:0032857", "record_type": "disease", "section": "disease_name", "phraselist": [ "diarrhea", "11", "malabsorptive", "congenital", "diarrhea 11", "11 malabsorptive", "malabsorptive congenital", "diarrhea 11 malabsorptive", "11 malabsorptive congenital", "diar11", "intractable", "diarrhoea", "of", "infancy", "syndrome", "intractable diarrhoea", "diarrhoea of", "of infancy", "infancy syndrome", "intractable diarrhoea of", "diarrhoea of infancy", "of infancy syndrome", "intractable diarrhoea of infancy", "diarrhoea of infancy syndrome", "intractable diarrhoea of infancy syndrome" ] }, { "record_id": "MONDO:0032857", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032857", "record_type": "disease", "section": "proteins", "phraselist": [ "a0a1w2pr82", "a0a1w2pr82 1", "perc1_human", "np_001352239", "percc1", "diar11", "icr", "gs104" ] }, { "record_id": "MONDO:0032857", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "percc1", "protein percc1", "proline", "and", "glutamage", "rich", "with", "coiled", "coil", "domain", "proline and", "and glutamage", "glutamage rich", "rich protein", "protein with", "with a", "a coiled", "coiled coil", "coil domain", "proline and glutamage", "and glutamage rich", "glutamage rich protein", "rich protein with", "protein with a", "with a coiled", "a coiled coil", "coiled coil domain", "proline and glutamage rich", "and glutamage rich protein", "glutamage rich protein with", "rich protein with a", "protein with a coiled", "with a coiled coil", "a coiled coil domain", "proline and glutamage rich protein", "and glutamage rich protein with", "glutamage rich protein with a", "rich protein with a coiled", "protein with a coiled coil", "with a coiled coil domain", "loc105371045", "protein loc105371045" ] }, { "record_id": "MONDO:0032862", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032862", "0032862", "mim:618667", "618667" ] }, { "record_id": "MONDO:0032862", "record_type": "disease", "section": "disease_name", "phraselist": [ "hydrocephalus", "congenital", "communicating", "congenital communicating", "hydrocephalus congenital", "communicating 1", "hydrocephalus congenital communicating", "congenital communicating 1", "hydcc1", "congenital 4", "hydrocephalus congenital 4" ] }, { "record_id": "MONDO:0032864", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032864", "0032864", "mim:618672", "618672" ] }, { "record_id": "MONDO:0032864", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "speech", "delay", "autism", "and", "dysmorphic", "facies", "intellectual developmental", "developmental disorder", "disorder with", "with speech", "speech delay", "and dysmorphic", "dysmorphic facies", "intellectual developmental disorder", "developmental disorder with", "disorder with speech", "with speech delay", "delay autism", "autism and", "and dysmorphic facies", "intellectual developmental disorder with", "developmental disorder with speech", "disorder with speech delay", "speech delay autism", "autism and dysmorphic", "intellectual developmental disorder with speech", "developmental disorder with speech delay", "with speech delay autism", "delay autism and", "autism and dysmorphic facies", "iddsadf", "speech delay autism and", "delay autism and dysmorphic" ] }, { "record_id": "MONDO:0032864", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032864", "record_type": "disease", "section": "proteins", "phraselist": [ "o75175", "o75175 1", "cnot3_human", "np_055331", "glycoprotein", "cnot3", "iddsadf", "kiaa0691", "leng2", "not3h", "not3" ] }, { "record_id": "MONDO:0032864", "record_type": "disease", "section": "proteins", "phraselist": [ "ccr4", "not", "transcription", "complex", "subunit", "ccr4 not", "not transcription", "transcription complex", "complex subunit", "subunit 3", "ccr4 not transcription", "not transcription complex", "transcription complex subunit", "complex subunit 3", "ccr4 not transcription complex", "not transcription complex subunit", "transcription complex subunit 3", "ccr4 not transcription complex subunit", "not transcription complex subunit 3", "isoform", "3 isoform", "isoform 1", "subunit 3 isoform", "3 isoform 1", "complex subunit 3 isoform", "subunit 3 isoform 1", "transcription complex subunit 3 isoform", "complex subunit 3 isoform 1", "associated", "factor", "ccr4 associated", "associated factor", "factor 3", "ccr4 associated factor", "associated factor 3", "ccr4 associated factor 3", "leukocyte", "receptor", "cluster", "member", "leukocyte receptor", "receptor cluster", "cluster member", "member 2", "leukocyte receptor cluster", "receptor cluster member", "cluster member 2", "leukocyte receptor cluster member", "receptor cluster member 2", "leukocyte receptor cluster member 2", "not3", "negative", "regulator", "of", "yeast", "homolog", "negative regulator", "regulator of", "of transcription", "transcription 3", "not3 negative", "negative regulator of", "regulator of transcription", "of transcription 3", "3 yeast", "yeast homolog", "not3 negative regulator", "negative regulator of transcription", "regulator of transcription 3", "transcription 3 yeast", "not3 negative regulator of", "negative regulator of transcription 3", "of transcription 3 yeast", "3 yeast homolog" ] }, { "record_id": "MONDO:0032865", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032865", "0032865", "mim:618674", "618674" ] }, { "record_id": "MONDO:0032865", "record_type": "disease", "section": "disease_name", "phraselist": [ "pulmonary", "fibrosis", "and/or", "bone", "marrow", "failure", "telomere", "related", "pulmonary fibrosis", "fibrosis and/or", "and/or bone", "bone marrow", "marrow failure", "telomere related", "pulmonary fibrosis and/or", "fibrosis and/or bone", "and/or bone marrow", "bone marrow failure", "failure telomere", "related 5", "pulmonary fibrosis and/or bone", "fibrosis and/or bone marrow", "and/or bone marrow failure", "marrow failure telomere", "failure telomere related", "telomere related 5", "pulmonary fibrosis and/or bone marrow", "fibrosis and/or bone marrow failure", "bone marrow failure telomere", "marrow failure telomere related", "zcchc8", "biology", "disorder", "zcchc8 related", "related telomere", "telomere biology", "biology disorder", "zcchc8 related telomere", "related telomere biology", "telomere biology disorder", "zcchc8 related telomere biology", "related telomere biology disorder", "zcchc8 related telomere biology disorder", "pfbmft5", "syndrome", "failure syndrome", "marrow failure syndrome", "syndrome telomere", "bone marrow failure syndrome", "failure syndrome telomere", "syndrome telomere related", "and/or bone marrow failure syndrome", "marrow failure syndrome telomere", "failure syndrome telomere related" ] }, { "record_id": "MONDO:0032865", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032865", "record_type": "disease", "section": "proteins", "phraselist": [ "q6nzy4", "q6nzy4 1", "zchc8_human", "np_060082", "glycoprotein", "zcchc8", "pfbmft5" ] }, { "record_id": "MONDO:0032865", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "cchc", "domain", "containing", "protein", "zinc finger", "finger cchc", "cchc domain", "domain containing", "containing protein", "protein 8", "zinc finger cchc", "finger cchc domain", "cchc domain containing", "domain containing protein", "containing protein 8", "zinc finger cchc domain", "finger cchc domain containing", "cchc domain containing protein", "domain containing protein 8", "zinc finger cchc domain containing", "finger cchc domain containing protein", "cchc domain containing protein 8", "tramp", "like", "complex", "rna", "binding", "factor", "zcchc8", "tramp like", "like complex", "complex rna", "rna binding", "binding factor", "factor zcchc8", "tramp like complex", "like complex rna", "complex rna binding", "rna binding factor", "binding factor zcchc8", "tramp like complex rna", "like complex rna binding", "complex rna binding factor", "rna binding factor zcchc8", "tramp like complex rna binding", "like complex rna binding factor", "complex rna binding factor zcchc8", "isoform", "8 isoform", "isoform 1", "protein 8 isoform", "8 isoform 1", "containing protein 8 isoform", "protein 8 isoform 1", "domain containing protein 8 isoform", "containing protein 8 isoform 1", "containing 8", "domain containing 8", "cchc domain containing 8" ] }, { "record_id": "MONDO:0032867", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032867", "0032867", "mim:618680", "618680" ] }, { "record_id": "MONDO:0032867", "record_type": "disease", "section": "disease_name", "phraselist": [ "pancreatic", "cancer", "susceptibility", "to", "pancreatic cancer", "susceptibility to", "cancer susceptibility", "to 5", "pancreatic cancer susceptibility", "cancer susceptibility to", "susceptibility to 5", "pancreatic cancer susceptibility to", "pnca5", "cancer 5", "pancreatic cancer 5" ] }, { "record_id": "MONDO:0032867", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032867", "record_type": "disease", "section": "proteins", "phraselist": [ "q5hyi8", "q5hyi8 1", "rabl3_human", "np_776186", "rabl3", "pnca5" ] }, { "record_id": "MONDO:0032867", "record_type": "disease", "section": "proteins", "phraselist": [ "rab", "like", "protein", "rab like", "like protein", "protein 3", "rab like protein", "like protein 3", "rab like protein 3", "3.6.5.2", "isoform", "3 isoform", "isoform 2", "protein 3 isoform", "3 isoform 2", "like protein 3 isoform", "protein 3 isoform 2", "rab like protein 3 isoform", "like protein 3 isoform 2" ] }, { "record_id": "MONDO:0032868", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032868", "0032868", "mim:618681", "618681" ] }, { "record_id": "MONDO:0032868", "record_type": "disease", "section": "disease_name", "phraselist": [ "lessel", "kubisch", "syndrome", "lessel kubisch", "kubisch syndrome", "lessel kubisch syndrome", "lskb" ] }, { "record_id": "MONDO:0032868", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032868", "record_type": "disease", "section": "proteins", "phraselist": [ "q00987", "q00987 1", "mdm2_human", "np_001138811", "glycoprotein", "mdm2", "actfs", "hdmx", "lskb", "hdm2" ] }, { "record_id": "MONDO:0032868", "record_type": "disease", "section": "proteins", "phraselist": [ "e3", "ubiquitin", "protein", "ligase", "mdm2", "e3 ubiquitin", "ubiquitin protein", "protein ligase", "ligase mdm2", "e3 ubiquitin protein", "ubiquitin protein ligase", "protein ligase mdm2", "e3 ubiquitin protein ligase", "ubiquitin protein ligase mdm2", "e3 ubiquitin protein ligase mdm2", "2.3.2.27", "double", "minute", "double minute", "minute 2", "2 protein", "double minute 2", "minute 2 protein", "double minute 2 protein", "isoform", "mdm2 isoform", "isoform h", "ligase mdm2 isoform", "mdm2 isoform h", "protein ligase mdm2 isoform", "ligase mdm2 isoform h", "ubiquitin protein ligase mdm2 isoform", "protein ligase mdm2 isoform h", "hdm2", "oncogene", "mdm2 oncogene", "oncogene e3", "mdm2 oncogene e3", "oncogene e3 ubiquitin", "mdm2 oncogene e3 ubiquitin", "oncogene e3 ubiquitin protein", "proto", "mdm2 proto", "proto oncogene", "mdm2 proto oncogene", "proto oncogene e3", "mdm2 proto oncogene e3", "proto oncogene e3 ubiquitin", "p53", "homolog", "p53 e3", "ligase homolog", "mdm2 p53", "p53 e3 ubiquitin", "protein ligase homolog", "mdm2 p53 e3", "p53 e3 ubiquitin protein", "ubiquitin protein ligase homolog", "mdm2 p53 e3 ubiquitin", "p53 e3 ubiquitin protein ligase", "e3 ubiquitin protein ligase homolog", "transformed", "3t3", "cell", "binding", "transformed 3t3", "3t3 cell", "cell double", "p53 binding", "binding protein", "mdm2 transformed", "transformed 3t3 cell", "3t3 cell double", "cell double minute", "2 p53", "p53 binding protein", "mdm2 transformed 3t3", "transformed 3t3 cell double", "3t3 cell double minute", "cell double minute 2", "minute 2 p53", "2 p53 binding", "mdm2 transformed 3t3 cell", "transformed 3t3 cell double minute", "3t3 cell double minute 2", "double minute 2 p53", "minute 2 p53 binding", "2 p53 binding protein", "oncoprotein", "oncoprotein mdm2", "ring", "type", "transferase", "ring type", "type e3", "ubiquitin transferase", "transferase mdm2", "ring type e3", "type e3 ubiquitin", "e3 ubiquitin transferase", "ubiquitin transferase mdm2", "ring type e3 ubiquitin", "type e3 ubiquitin transferase", "e3 ubiquitin transferase mdm2", "ring type e3 ubiquitin transferase", "type e3 ubiquitin transferase mdm2", "human", "of", "human homolog", "homolog of", "2 human", "human homolog of", "minute 2 human", "2 human homolog", "double minute 2 human", "minute 2 human homolog", "2 human homolog of", "protein mdm2", "binding protein mdm2", "p53 binding protein mdm2" ] }, { "record_id": "MONDO:0032875", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032875", "0032875", "mim:618702", "618702" ] }, { "record_id": "MONDO:0032875", "record_type": "disease", "section": "disease_name", "phraselist": [ "short", "stature", "and", "microcephaly", "with", "genital", "anomalies", "short stature", "stature and", "and microcephaly", "microcephaly with", "with genital", "genital anomalies", "short stature and", "stature and microcephaly", "and microcephaly with", "microcephaly with genital", "with genital anomalies", "short stature and microcephaly", "stature and microcephaly with", "and microcephaly with genital", "microcephaly with genital anomalies", "short stature and microcephaly with", "stature and microcephaly with genital", "and microcephaly with genital anomalies", "ssmga" ] }, { "record_id": "MONDO:0032875", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032875", "record_type": "disease", "section": "proteins", "phraselist": [ "q96bt3", "q96bt3 1", "cenpt_human", "np_079358", "cenpt", "c16orf56", "cenp", "cenp t", "icen22", "ssmga" ] }, { "record_id": "MONDO:0032875", "record_type": "disease", "section": "proteins", "phraselist": [ "centromere", "protein", "centromere protein", "protein t", "centromere protein t", "cenp", "cenp t", "interphase", "complex", "22", "interphase centromere", "centromere complex", "complex protein", "protein 22", "interphase centromere complex", "centromere complex protein", "complex protein 22", "interphase centromere complex protein", "centromere complex protein 22", "interphase centromere complex protein 22" ] }, { "record_id": "MONDO:0032876", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032876", "0032876", "mim:618707", "618707" ] }, { "record_id": "MONDO:0032876", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "absent", "language", "and", "variable", "seizures", "neurodevelopmental disorder", "disorder with", "with absent", "absent language", "language and", "and variable", "variable seizures", "neurodevelopmental disorder with", "disorder with absent", "with absent language", "absent language and", "language and variable", "and variable seizures", "neurodevelopmental disorder with absent", "disorder with absent language", "with absent language and", "absent language and variable", "language and variable seizures", "neurodevelopmental disorder with absent language", "disorder with absent language and", "with absent language and variable", "absent language and variable seizures", "nedalvs" ] }, { "record_id": "MONDO:0032876", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032876", "record_type": "disease", "section": "proteins", "phraselist": [ "q92558", "q92558 1", "wasf1_human", "np_001020105", "glycoprotein", "wasf1", "kiaa0269", "nedalvs", "scar1", "wave", "wave 1", "wave1" ] }, { "record_id": "MONDO:0032876", "record_type": "disease", "section": "proteins", "phraselist": [ "actin", "binding", "protein", "wasf1", "actin binding", "binding protein", "protein wasf1", "actin binding protein", "binding protein wasf1", "actin binding protein wasf1", "wave", "protein wave", "wave 1", "protein wave 1", "verprolin", "homology", "domain", "containing", "verprolin homology", "homology domain", "domain containing", "containing protein", "protein 1", "verprolin homology domain", "homology domain containing", "domain containing protein", "containing protein 1", "verprolin homology domain containing", "homology domain containing protein", "domain containing protein 1", "verprolin homology domain containing protein", "homology domain containing protein 1", "was", "family", "member", "was protein", "protein family", "family member", "member 1", "was protein family", "protein family member", "family member 1", "was protein family member", "protein family member 1", "was protein family member 1", "wasp", "wasp family", "family protein", "protein member", "wasp family protein", "family protein member", "protein member 1", "wasp family protein member", "family protein member 1", "wasp family protein member 1", "wiskott", "aldrich", "syndrome", "wiskott aldrich", "aldrich syndrome", "syndrome protein", "wiskott aldrich syndrome", "aldrich syndrome protein", "syndrome protein family", "wiskott aldrich syndrome protein", "aldrich syndrome protein family", "syndrome protein family member", "wiskott aldrich syndrome protein family", "aldrich syndrome protein family member", "syndrome protein family member 1", "of", "dictyostelium", "scar", "homology of", "of dictyostelium", "dictyostelium scar", "scar 1", "homology of dictyostelium", "of dictyostelium scar", "dictyostelium scar 1", "homology of dictyostelium scar", "of dictyostelium scar 1", "homology of dictyostelium scar 1" ] }, { "record_id": "MONDO:0032877", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032877", "0032877", "mim:618709", "618709" ] }, { "record_id": "MONDO:0032877", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "nonspecific", "brain", "abnormalities", "and", "or", "without", "seizures", "neurodevelopmental disorder", "disorder with", "with nonspecific", "nonspecific brain", "brain abnormalities", "abnormalities and", "and with", "with or", "or without", "without seizures", "neurodevelopmental disorder with", "disorder with nonspecific", "with nonspecific brain", "nonspecific brain abnormalities", "brain abnormalities and", "abnormalities and with", "and with or", "with or without", "or without seizures", "neurodevelopmental disorder with nonspecific", "disorder with nonspecific brain", "with nonspecific brain abnormalities", "nonspecific brain abnormalities and", "brain abnormalities and with", "abnormalities and with or", "and with or without", "with or without seizures", "neurodevelopmental disorder with nonspecific brain", "disorder with nonspecific brain abnormalities", "with nonspecific brain abnormalities and", "nonspecific brain abnormalities and with", "brain abnormalities and with or", "abnormalities and with or without", "and with or without seizures", "nedbas", "non", "specific", "with non", "non specific", "specific brain", "disorder with non", "with non specific", "non specific brain", "specific brain abnormalities", "neurodevelopmental disorder with non", "disorder with non specific", "with non specific brain", "non specific brain abnormalities", "specific brain abnormalities and", "neurodevelopmental disorder with non specific", "disorder with non specific brain", "with non specific brain abnormalities", "non specific brain abnormalities and", "specific brain abnormalities and with" ] }, { "record_id": "MONDO:0032877", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032877", "record_type": "disease", "section": "proteins", "phraselist": [ "o00548", "o00548 1", "dll1_human", "np_005609", "glycoprotein", "dll1", "delta1", "dl1", "delta", "nedbas", "pro172" ] }, { "record_id": "MONDO:0032877", "record_type": "disease", "section": "proteins", "phraselist": [ "delta", "like", "protein", "delta like", "like protein", "protein 1", "delta like protein", "like protein 1", "delta like protein 1", "delta1", "drosophila", "homolog", "drosophila delta", "delta homolog", "homolog 1", "drosophila delta homolog", "delta homolog 1", "drosophila delta homolog 1", "h delta", "delta 1", "h delta 1", "ligand", "like ligand", "ligand 1", "delta like ligand", "like ligand 1", "delta like ligand 1", "precursor", "1 precursor", "protein 1 precursor", "like protein 1 precursor", "delta like protein 1 precursor", "epididymis", "secretory", "sperm", "binding", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein" ] }, { "record_id": "MONDO:0032878", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032878", "0032878", "mim:618718", "618718" ] }, { "record_id": "MONDO:0032878", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "behavioral", "abnormalities", "absent", "speech", "and", "hypotonia", "neurodevelopmental disorder", "disorder with", "with behavioral", "behavioral abnormalities", "absent speech", "and hypotonia", "neurodevelopmental disorder with", "disorder with behavioral", "with behavioral abnormalities", "abnormalities absent", "speech and", "neurodevelopmental disorder with behavioral", "disorder with behavioral abnormalities", "behavioral abnormalities absent", "abnormalities absent speech", "absent speech and", "speech and hypotonia", "neurodevelopmental disorder with behavioral abnormalities", "with behavioral abnormalities absent", "behavioral abnormalities absent speech", "absent speech and hypotonia", "nedbash" ] }, { "record_id": "MONDO:0032878", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032878", "record_type": "disease", "section": "proteins", "phraselist": [ "q96cw9", "q96cw9 1", "ntng2_human", "np_115925", "glycoprotein", "ntng2", "kiaa1857", "lhll9381", "lmnt2", "nedbash", "ntng1", "netring2", "pro34206", "ba479k20.1" ] }, { "record_id": "MONDO:0032878", "record_type": "disease", "section": "proteins", "phraselist": [ "netrin", "g2", "netrin g2", "laminet", "laminet 2", "g1", "netrin g1", "precursor", "g2 precursor", "netrin g2 precursor" ] }, { "record_id": "MONDO:0032882", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032882", "0032882", "mim:618724", "618724" ] }, { "record_id": "MONDO:0032882", "record_type": "disease", "section": "disease_name", "phraselist": [ "heyn", "sproul", "jackson", "syndrome", "heyn sproul", "sproul jackson", "jackson syndrome", "heyn sproul jackson", "sproul jackson syndrome", "heyn sproul jackson syndrome", "hesjas" ] }, { "record_id": "MONDO:0032882", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032882", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y6k1", "q9y6k1 1", "dnm3a_human", "np_001307821", "glycoprotein", "dnmt3a", "dnmt3a2", "hesjas", "m.hsaiiia", "tbrs" ] }, { "record_id": "MONDO:0032882", "record_type": "disease", "section": "proteins", "phraselist": [ "dna", "cytosine", "methyltransferase", "3a", "cytosine 5", "methyltransferase 3a", "dna cytosine", "5 methyltransferase", "dna cytosine 5", "cytosine 5 methyltransferase", "5 methyltransferase 3a", "cytosine 5 methyltransferase 3a", "2.1.1.", "2.1.1.37", "cysteine", "dnmt3a", "cysteine methyltransferase", "methyltransferase dnmt3a", "cysteine methyltransferase dnmt3a", "isoform", "3a isoform", "isoform c", "methyltransferase 3a isoform", "3a isoform c", "methyltransferase 3a isoform c", "5 methyltransferase 3a isoform", "alpha", "methyltransferase 3", "3 alpha", "methyltransferase 3 alpha", "5 methyltransferase 3", "mtase", "hsaiiia", "dna mtase", "mtase hsaiiia", "dna mtase hsaiiia", "3a2", "cytosine methyltransferase", "methyltransferase 3a2", "dna cytosine methyltransferase", "cytosine methyltransferase 3a2", "dna cytosine methyltransferase 3a2", "dna methyltransferase", "methyltransferase hsaiiia", "dna methyltransferase hsaiiia", "m.hsaiiia" ] }, { "record_id": "MONDO:0032883", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032883", "0032883", "mim:618725", "618725" ] }, { "record_id": "MONDO:0032883", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "behavioral", "abnormalities", "and", "craniofacial", "dysmorphism", "or", "without", "seizures", "intellectual developmental", "developmental disorder", "disorder with", "with behavioral", "behavioral abnormalities", "abnormalities and", "and craniofacial", "craniofacial dysmorphism", "dysmorphism with", "with or", "or without", "without seizures", "intellectual developmental disorder", "developmental disorder with", "disorder with behavioral", "with behavioral abnormalities", "behavioral abnormalities and", "abnormalities and craniofacial", "and craniofacial dysmorphism", "craniofacial dysmorphism with", "dysmorphism with or", "with or without", "or without seizures", "intellectual developmental disorder with", "developmental disorder with behavioral", "disorder with behavioral abnormalities", "with behavioral abnormalities and", "behavioral abnormalities and craniofacial", "abnormalities and craniofacial dysmorphism", "and craniofacial dysmorphism with", "craniofacial dysmorphism with or", "dysmorphism with or without", "with or without seizures", "intellectual developmental disorder with behavioral", "developmental disorder with behavioral abnormalities", "disorder with behavioral abnormalities and", "with behavioral abnormalities and craniofacial", "behavioral abnormalities and craniofacial dysmorphism", "abnormalities and craniofacial dysmorphism with", "and craniofacial dysmorphism with or", "craniofacial dysmorphism with or without", "dysmorphism with or without seizures", "iddbcs" ] }, { "record_id": "MONDO:0032883", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032883", "record_type": "disease", "section": "proteins", "phraselist": [ "q96bd5", "q96bd5 1", "pf21a_human", "np_001095272", "glycoprotein", "phf21a", "bhc80", "bm", "006", "bm 006", "iddbcs", "kiaa1696", "nedms" ] }, { "record_id": "MONDO:0032883", "record_type": "disease", "section": "proteins", "phraselist": [ "phd", "finger", "protein", "21a", "phd finger", "finger protein", "protein 21a", "phd finger protein", "finger protein 21a", "phd finger protein 21a", "bhc80a", "braf35", "hdac", "complex", "bhc80", "braf35 hdac", "hdac complex", "complex protein", "protein bhc80", "braf35 hdac complex", "hdac complex protein", "complex protein bhc80", "braf35 hdac complex protein", "hdac complex protein bhc80", "braf35 hdac complex protein bhc80", "braf35/hdac2", "80", "kda", "braf35/hdac2 complex", "80 kda", "complex 80", "braf35/hdac2 complex 80", "complex 80 kda", "braf35/hdac2 complex 80 kda", "isoform", "21a isoform", "isoform a", "protein 21a isoform", "21a isoform a", "finger protein 21a isoform", "protein 21a isoform a", "phd finger protein 21a isoform", "finger protein 21a isoform a" ] }, { "record_id": "MONDO:0032884", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032884", "0032884", "mim:618727", "618727" ] }, { "record_id": "MONDO:0032884", "record_type": "disease", "section": "disease_name", "phraselist": [ "ectodermal", "dysplasia", "with", "facial", "dysmorphism", "and", "acral", "ocular", "brain", "anomalies", "ectodermal dysplasia", "dysplasia with", "with facial", "facial dysmorphism", "dysmorphism and", "and acral", "and brain", "brain anomalies", "ectodermal dysplasia with", "dysplasia with facial", "with facial dysmorphism", "facial dysmorphism and", "dysmorphism and acral", "acral ocular", "ocular and", "and brain anomalies", "ectodermal dysplasia with facial", "dysplasia with facial dysmorphism", "with facial dysmorphism and", "facial dysmorphism and acral", "and acral ocular", "ocular and brain", "ectodermal dysplasia with facial dysmorphism", "dysplasia with facial dysmorphism and", "with facial dysmorphism and acral", "dysmorphism and acral ocular", "acral ocular and", "ocular and brain anomalies", "somatic", "mosaic", "somatic mosaic", "anomalies somatic", "brain anomalies somatic", "anomalies somatic mosaic", "and brain anomalies somatic", "brain anomalies somatic mosaic", "edfaob" ] }, { "record_id": "MONDO:0032884", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032884", "record_type": "disease", "section": "proteins", "phraselist": [ "p61586", "p61586 1", "rhoa_human", "np_001300870", "glycoprotein", "rhoa", "arh12", "arha", "edfaob", "rho12", "rhoh12" ] }, { "record_id": "MONDO:0032884", "record_type": "disease", "section": "proteins", "phraselist": [ "transforming", "protein", "rhoa", "transforming protein", "protein rhoa", "transforming protein rhoa", "3.6.5.2", "aplysia", "ras", "related", "homolog", "12", "aplysia ras", "ras related", "related homolog", "homolog 12", "aplysia ras related", "ras related homolog", "related homolog 12", "aplysia ras related homolog", "ras related homolog 12", "aplysia ras related homolog 12", "rho", "cdna", "clone", "rho cdna", "cdna clone", "clone 12", "rho cdna clone", "cdna clone 12", "rho cdna clone 12", "epididymis", "secretory", "sperm", "binding", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "h12", "oncogene", "oncogene rho", "rho h12", "oncogene rho h12", "small", "gtp", "small gtp", "gtp binding", "small gtp binding", "gtp binding protein", "binding protein rhoa", "small gtp binding protein", "gtp binding protein rhoa", "small gtp binding protein rhoa", "isoform", "precursor", "rhoa isoform", "isoform 1", "1 precursor", "protein rhoa isoform", "rhoa isoform 1", "isoform 1 precursor", "transforming protein rhoa isoform", "protein rhoa isoform 1", "rhoa isoform 1 precursor", "transforming protein rhoa isoform 1", "protein rhoa isoform 1 precursor" ] }, { "record_id": "MONDO:0032885", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032885", "0032885", "mim:618728", "618728" ] }, { "record_id": "MONDO:0032885", "record_type": "disease", "section": "disease_name", "phraselist": [ "spondyloepimetaphyseal", "dysplasia", "isidor", "toutain", "type", "spondyloepimetaphyseal dysplasia", "isidor toutain", "toutain type", "dysplasia isidor", "isidor toutain type", "spondyloepimetaphyseal dysplasia isidor", "dysplasia isidor toutain", "spondyloepimetaphyseal dysplasia isidor toutain", "dysplasia isidor toutain type", "semdist" ] }, { "record_id": "MONDO:0032885", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032885", "record_type": "disease", "section": "proteins", "phraselist": [ "p26373", "p26373 1", "rl13_human", "np_000968", "glycoprotein", "rpl13", "bbc1", "d16s444e", "d16s44e", "l13", "semdist", "sw", "cl.46", "sw cl.46", "el13" ] }, { "record_id": "MONDO:0032885", "record_type": "disease", "section": "proteins", "phraselist": [ "large", "ribosomal", "subunit", "protein", "el13", "large ribosomal", "ribosomal subunit", "subunit protein", "protein el13", "large ribosomal subunit", "ribosomal subunit protein", "subunit protein el13", "large ribosomal subunit protein", "ribosomal subunit protein el13", "large ribosomal subunit protein el13", "60s", "l13", "60s ribosomal", "ribosomal protein", "protein l13", "60s ribosomal protein", "ribosomal protein l13", "60s ribosomal protein l13", "breast", "basic", "conserved", "breast basic", "basic conserved", "conserved protein", "protein 1", "breast basic conserved", "basic conserved protein", "conserved protein 1", "breast basic conserved protein", "basic conserved protein 1", "breast basic conserved protein 1", "conserved 1", "basic conserved 1", "breast basic conserved 1", "isoform", "el13 isoform", "isoform 1", "protein el13 isoform", "el13 isoform 1", "subunit protein el13 isoform", "protein el13 isoform 1", "ribosomal subunit protein el13 isoform", "subunit protein el13 isoform 1" ] }, { "record_id": "MONDO:0032886", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032886", "0032886", "mim:618729", "618729" ] }, { "record_id": "MONDO:0032886", "record_type": "disease", "section": "disease_name", "phraselist": [ "liang", "wang", "syndrome", "liang wang", "wang syndrome", "liang wang syndrome", "liwas" ] }, { "record_id": "MONDO:0032886", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032886", "record_type": "disease", "section": "proteins", "phraselist": [ "q12791", "q12791 1", "kcma1_human", "np_001014797", "glycoprotein", "kcnma1", "bktm", "cadeds", "ieg16", "kcnma", "kca1.1", "liwas", "maxik", "pnkd3", "sakca", "slo", "alpha", "slo alpha", "slo1", "ba205k10.1", "hslo", "mslo1" ] }, { "record_id": "MONDO:0032886", "record_type": "disease", "section": "proteins", "phraselist": [ "calcium", "activated", "potassium", "channel", "subunit", "alpha", "calcium activated", "activated potassium", "potassium channel", "channel subunit", "subunit alpha", "alpha 1", "calcium activated potassium", "activated potassium channel", "potassium channel subunit", "channel subunit alpha", "subunit alpha 1", "calcium activated potassium channel", "activated potassium channel subunit", "potassium channel subunit alpha", "channel subunit alpha 1", "calcium activated potassium channel subunit", "activated potassium channel subunit alpha", "potassium channel subunit alpha 1", "bk", "bk channel", "channel alpha", "alpha subunit", "bk channel alpha", "channel alpha subunit", "bk channel alpha subunit", "bkca", "bkca alpha", "bkca alpha subunit", "isoform", "1 isoform", "isoform a", "alpha 1 isoform", "1 isoform a", "subunit alpha 1 isoform", "alpha 1 isoform a", "channel subunit alpha 1 isoform", "subunit alpha 1 isoform a", "subfamily", "subfamily m", "m subunit", "channel subfamily", "subfamily m subunit", "m subunit alpha", "potassium channel subfamily", "channel subfamily m", "subfamily m subunit alpha", "m subunit alpha 1", "activated potassium channel subfamily", "potassium channel subfamily m", "channel subfamily m subunit", "subfamily m subunit alpha 1", "vca", "k vca", "vca alpha", "k vca alpha", "kca1.1", "maxi", "maxi k", "k channel", "maxi k channel", "maxik", "slo", "homolog", "slo homolog", "slo alpha", "slo1", "slowpoke", "slowpoke homolog", "big", "big potassium", "big potassium channel", "potassium channel alpha", "big potassium channel alpha", "potassium channel alpha subunit", "big potassium channel alpha subunit", "hslo", "channel hslo", "k channel hslo", "maxi k channel hslo", "large", "conductance", "member", "activated large", "large conductance", "conductance subfamily", "m alpha", "member 1", "channel calcium", "calcium activated large", "activated large conductance", "large conductance subfamily", "conductance subfamily m", "subfamily m alpha", "alpha member", "potassium channel calcium", "channel calcium activated", "calcium activated large conductance", "activated large conductance subfamily", "large conductance subfamily m", "conductance subfamily m alpha", "m alpha member", "alpha member 1", "potassium channel calcium activated", "channel calcium activated large", "calcium activated large conductance subfamily", "activated large conductance subfamily m", "large conductance subfamily m alpha", "subfamily m alpha member", "m alpha member 1", "potassium large", "conductance calcium", "activated channel", "potassium large conductance", "large conductance calcium", "conductance calcium activated", "calcium activated channel", "potassium large conductance calcium", "large conductance calcium activated", "conductance calcium activated channel", "activated channel subfamily", "potassium large conductance calcium activated", "large conductance calcium activated channel", "calcium activated channel subfamily", "activated channel subfamily m", "stretch", "kca", "stretch activated", "activated kca", "kca channel", "stretch activated kca", "activated kca channel", "stretch activated kca channel" ] }, { "record_id": "MONDO:0032887", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032887", "0032887", "mim:618730", "618730" ] }, { "record_id": "MONDO:0032887", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "cortical", "malformations", "and", "spasticity", "neurodevelopmental disorder", "disorder with", "with microcephaly", "cortical malformations", "and spasticity", "neurodevelopmental disorder with", "disorder with microcephaly", "microcephaly cortical", "malformations and", "neurodevelopmental disorder with microcephaly", "with microcephaly cortical", "microcephaly cortical malformations", "cortical malformations and", "malformations and spasticity", "disorder with microcephaly cortical", "with microcephaly cortical malformations", "cortical malformations and spasticity", "nedmcms" ] }, { "record_id": "MONDO:0032887", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032887", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y320", "q9y320 1", "tmx2_human", "np_001137484", "glycoprotein", "tmx2", "cgi", "31", "cgi 31", "my009", "nedmcms", "pdia12", "pig26", "pro270", "psec0045", "txndc14" ] }, { "record_id": "MONDO:0032887", "record_type": "disease", "section": "proteins", "phraselist": [ "thioredoxin", "related", "transmembrane", "protein", "thioredoxin related", "related transmembrane", "transmembrane protein", "protein 2", "thioredoxin related transmembrane", "related transmembrane protein", "transmembrane protein 2", "thioredoxin related transmembrane protein", "related transmembrane protein 2", "thioredoxin related transmembrane protein 2", "cell", "proliferation", "inducing", "gene", "26", "cell proliferation", "proliferation inducing", "inducing gene", "gene 26", "26 protein", "cell proliferation inducing", "proliferation inducing gene", "inducing gene 26", "gene 26 protein", "cell proliferation inducing gene", "proliferation inducing gene 26", "inducing gene 26 protein", "cell proliferation inducing gene 26", "proliferation inducing gene 26 protein", "domain", "containing", "14", "thioredoxin domain", "domain containing", "containing protein", "protein 14", "thioredoxin domain containing", "domain containing protein", "containing protein 14", "thioredoxin domain containing protein", "domain containing protein 14", "thioredoxin domain containing protein 14", "growth", "inhibiting", "11", "growth inhibiting", "inhibiting gene", "gene 11", "growth inhibiting gene", "inhibiting gene 11", "growth inhibiting gene 11", "disulfide", "isomerase", "family", "member", "12", "protein disulfide", "disulfide isomerase", "isomerase family", "family a", "member 12", "protein disulfide isomerase", "disulfide isomerase family", "isomerase family a", "a member", "protein disulfide isomerase family", "disulfide isomerase family a", "family a member", "a member 12", "protein disulfide isomerase family a", "isomerase family a member", "family a member 12", "isoform", "2 isoform", "isoform 2", "protein 2 isoform", "2 isoform 2", "transmembrane protein 2 isoform", "protein 2 isoform 2", "related transmembrane protein 2 isoform", "transmembrane protein 2 isoform 2" ] }, { "record_id": "MONDO:0032888", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032888", "0032888", "mim:618731", "618731" ] }, { "record_id": "MONDO:0032888", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "brain", "anomalies", "and", "or", "without", "vertebral", "cardiac", "neurodevelopmental disorder", "disorder with", "with brain", "brain anomalies", "anomalies and", "and with", "with or", "or without", "without vertebral", "vertebral or", "or cardiac", "cardiac anomalies", "neurodevelopmental disorder with", "disorder with brain", "with brain anomalies", "brain anomalies and", "anomalies and with", "and with or", "with or without", "or without vertebral", "without vertebral or", "vertebral or cardiac", "or cardiac anomalies", "neurodevelopmental disorder with brain", "disorder with brain anomalies", "with brain anomalies and", "brain anomalies and with", "anomalies and with or", "and with or without", "with or without vertebral", "or without vertebral or", "without vertebral or cardiac", "vertebral or cardiac anomalies", "neurodevelopmental disorder with brain anomalies", "disorder with brain anomalies and", "with brain anomalies and with", "brain anomalies and with or", "anomalies and with or without", "and with or without vertebral", "with or without vertebral or", "or without vertebral or cardiac", "without vertebral or cardiac anomalies", "nedbavc" ] }, { "record_id": "MONDO:0032888", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032888", "record_type": "disease", "section": "proteins", "phraselist": [ "q8iy37", "q8iy37 1", "dhx37_human", "np_116045", "glycoprotein", "dhx37", "ddx37", "dhr1", "kiaa1517", "nedbavc", "srxy11" ] }, { "record_id": "MONDO:0032888", "record_type": "disease", "section": "proteins", "phraselist": [ "probable", "atp", "dependent", "rna", "helicase", "dhx37", "probable atp", "atp dependent", "dependent rna", "rna helicase", "helicase dhx37", "probable atp dependent", "atp dependent rna", "dependent rna helicase", "rna helicase dhx37", "probable atp dependent rna", "atp dependent rna helicase", "dependent rna helicase dhx37", "probable atp dependent rna helicase", "atp dependent rna helicase dhx37", "3.6.4.13", "dead/deah", "box", "ddx37", "dead/deah box", "box helicase", "helicase ddx37", "dead/deah box helicase", "box helicase ddx37", "dead/deah box helicase ddx37", "dead/h", "asp", "glu", "ala", "asp/his", "polypeptide", "37", "asp glu", "glu ala", "ala asp/his", "box polypeptide", "polypeptide 37", "dead/h asp", "asp glu ala", "glu ala asp/his", "asp/his box", "box polypeptide 37", "dead/h asp glu", "asp glu ala asp/his", "ala asp/his box", "asp/his box polypeptide", "dead/h asp glu ala", "glu ala asp/his box", "ala asp/his box polypeptide", "asp/his box polypeptide 37", "deah", "his", "ala his", "deah asp", "glu ala his", "his box", "deah asp glu", "asp glu ala his", "ala his box", "his box polypeptide", "deah asp glu ala", "glu ala his box", "ala his box polypeptide", "his box polypeptide 37", "protein", "deah box", "box protein", "protein 37", "deah box protein", "box protein 37", "deah box protein 37" ] }, { "record_id": "MONDO:0032889", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032889", "0032889", "mim:618732", "618732" ] }, { "record_id": "MONDO:0032889", "record_type": "disease", "section": "disease_name", "phraselist": [ "poirier", "bienvenu", "neurodevelopmental", "syndrome", "poirier bienvenu", "bienvenu neurodevelopmental", "neurodevelopmental syndrome", "poirier bienvenu neurodevelopmental", "bienvenu neurodevelopmental syndrome", "poirier bienvenu neurodevelopmental syndrome", "pobinds" ] }, { "record_id": "MONDO:0032889", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032889", "record_type": "disease", "section": "proteins", "phraselist": [ "p67870", "p67870 1", "csk2b_human", "np_001269314", "glycoprotein", "csnk2b", "ck", "ii", "beta", "ck ii", "ii beta", "ck ii beta", "ck2b", "ck2n", "csk2b", "ckb1", "ckb2", "g5a", "pobinds" ] }, { "record_id": "MONDO:0032889", "record_type": "disease", "section": "proteins", "phraselist": [ "casein", "kinase", "ii", "subunit", "beta", "casein kinase", "kinase ii", "ii subunit", "subunit beta", "casein kinase ii", "kinase ii subunit", "ii subunit beta", "casein kinase ii subunit", "kinase ii subunit beta", "casein kinase ii subunit beta", "ck", "ck ii", "ii beta", "ck ii beta", "beta subunit", "kinase ii beta", "ii beta subunit", "casein kinase ii beta", "kinase ii beta subunit", "casein kinase ii beta subunit", "phosvitin", "protein", "g5a", "protein g5a", "alternative", "name:", "alternative name:", "name: g5a", "alternative name: g5a", "g5a phosvitin", "name: g5a phosvitin", "alternative name: g5a phosvitin", "polypeptide", "kinase 2", "beta polypeptide", "casein kinase 2", "2 beta", "kinase 2 beta", "2 beta polypeptide", "casein kinase 2 beta", "kinase 2 beta polypeptide", "isoform", "beta isoform", "isoform 2", "subunit beta isoform", "beta isoform 2", "ii subunit beta isoform", "subunit beta isoform 2", "kinase ii subunit beta isoform", "ii subunit beta isoform 2" ] }, { "record_id": "MONDO:0032890", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032890", "0032890", "mim:618733", "618733" ] }, { "record_id": "MONDO:0032890", "record_type": "disease", "section": "disease_name", "phraselist": [ "neuromuscular", "disease", "and", "ocular", "or", "auditory", "anomalies", "with", "without", "seizures", "neuromuscular disease", "disease and", "and ocular", "ocular or", "or auditory", "auditory anomalies", "anomalies with", "with or", "or without", "without seizures", "neuromuscular disease and", "disease and ocular", "and ocular or", "ocular or auditory", "or auditory anomalies", "auditory anomalies with", "anomalies with or", "with or without", "or without seizures", "neuromuscular disease and ocular", "disease and ocular or", "and ocular or auditory", "ocular or auditory anomalies", "or auditory anomalies with", "auditory anomalies with or", "anomalies with or without", "with or without seizures", "neuromuscular disease and ocular or", "disease and ocular or auditory", "and ocular or auditory anomalies", "ocular or auditory anomalies with", "or auditory anomalies with or", "auditory anomalies with or without", "anomalies with or without seizures", "nmoas", "oculoauditory", "syndrome", "neuromuscular oculoauditory", "oculoauditory syndrome", "neuromuscular oculoauditory syndrome" ] }, { "record_id": "MONDO:0032890", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032890", "record_type": "disease", "section": "proteins", "phraselist": [ "o60231", "o60231 1", "dhx16_human", "np_001157711", "glycoprotein", "dhx16", "dbp2", "ddx16", "kiaa0577", "nmoas", "pro2014", "prp2", "prp8", "prpf2" ] }, { "record_id": "MONDO:0032890", "record_type": "disease", "section": "proteins", "phraselist": [ "pre", "mrna", "splicing", "factor", "atp", "dependent", "rna", "helicase", "dhx16", "pre mrna", "mrna splicing", "splicing factor", "factor atp", "atp dependent", "dependent rna", "rna helicase", "helicase dhx16", "pre mrna splicing", "mrna splicing factor", "splicing factor atp", "factor atp dependent", "atp dependent rna", "dependent rna helicase", "rna helicase dhx16", "pre mrna splicing factor", "mrna splicing factor atp", "splicing factor atp dependent", "factor atp dependent rna", "atp dependent rna helicase", "dependent rna helicase dhx16", "pre mrna splicing factor atp", "mrna splicing factor atp dependent", "splicing factor atp dependent rna", "factor atp dependent rna helicase", "atp dependent rna helicase dhx16", "3.6.4.13", "#3", "helicase #3", "rna helicase #3", "dependent rna helicase #3", "atp dependent rna helicase #3", "dead/h", "asp", "glu", "ala", "asp/his", "box", "polypeptide", "16", "asp glu", "glu ala", "ala asp/his", "box polypeptide", "polypeptide 16", "dead/h asp", "asp glu ala", "glu ala asp/his", "asp/his box", "box polypeptide 16", "dead/h asp glu", "asp glu ala asp/his", "ala asp/his box", "asp/his box polypeptide", "dead/h asp glu ala", "glu ala asp/his box", "ala asp/his box polypeptide", "asp/his box polypeptide 16", "dead/h box", "box 16", "dead/h box 16", "deah", "his", "ala his", "deah asp", "glu ala his", "his box", "deah asp glu", "asp glu ala his", "ala his box", "his box polypeptide", "deah asp glu ala", "glu ala his box", "ala his box polypeptide", "his box polypeptide 16", "protein", "deah box", "box protein", "protein 16", "deah box protein", "box protein 16", "deah box protein 16", "processing", "mrna processing", "processing factor", "factor 2", "pre mrna processing", "mrna processing factor", "processing factor 2", "pre mrna processing factor", "mrna processing factor 2", "pre mrna processing factor 2", "isoform", "dhx16 isoform", "isoform 2", "helicase dhx16 isoform", "dhx16 isoform 2", "rna helicase dhx16 isoform", "helicase dhx16 isoform 2", "dependent rna helicase dhx16 isoform", "rna helicase dhx16 isoform 2", "putative", "putative pre", "putative pre mrna", "putative pre mrna splicing", "putative pre mrna splicing factor" ] }, { "record_id": "MONDO:0032892", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032892", "0032892", "mim:618736", "618736" ] }, { "record_id": "MONDO:0032892", "record_type": "disease", "section": "disease_name", "phraselist": [ "structural", "brain", "anomalies", "with", "impaired", "intellectual", "development", "and", "craniosynostosis", "structural brain", "brain anomalies", "anomalies with", "with impaired", "impaired intellectual", "intellectual development", "development and", "and craniosynostosis", "structural brain anomalies", "brain anomalies with", "anomalies with impaired", "with impaired intellectual", "impaired intellectual development", "intellectual development and", "development and craniosynostosis", "structural brain anomalies with", "brain anomalies with impaired", "anomalies with impaired intellectual", "with impaired intellectual development", "impaired intellectual development and", "intellectual development and craniosynostosis", "structural brain anomalies with impaired", "brain anomalies with impaired intellectual", "anomalies with impaired intellectual development", "with impaired intellectual development and", "impaired intellectual development and craniosynostosis", "baidcs" ] }, { "record_id": "MONDO:0032892", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032892", "record_type": "disease", "section": "proteins", "phraselist": [ "q15915", "q15915 1", "zic1_human", "np_003403", "zic1", "baidcs", "crs6", "zic", "znf201" ] }, { "record_id": "MONDO:0032892", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "protein", "zic", "zinc finger", "finger protein", "protein zic", "zic 1", "zinc finger protein", "finger protein zic", "protein zic 1", "zinc finger protein zic", "finger protein zic 1", "zinc finger protein zic 1", "family", "member", "odd", "paired", "homolog", "drosophila", "zic family", "family member", "member 1", "odd paired", "paired homolog", "zic family member", "family member 1", "1 odd", "odd paired homolog", "homolog drosophila", "zic family member 1", "member 1 odd", "1 odd paired", "paired homolog drosophila", "family member 1 odd", "member 1 odd paired", "1 odd paired homolog", "odd paired homolog drosophila", "201", "protein 201", "finger protein 201", "zinc finger protein 201", "of", "the", "cerebellum", "protein of", "of the", "the cerebellum", "cerebellum 1", "finger protein of", "protein of the", "of the cerebellum", "the cerebellum 1", "zinc finger protein of", "finger protein of the", "protein of the cerebellum", "of the cerebellum 1", "zinc finger protein of the", "finger protein of the cerebellum", "protein of the cerebellum 1" ] }, { "record_id": "MONDO:0032894", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032894", "0032894", "mim:618741", "618741" ] }, { "record_id": "MONDO:0032894", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "epilepsy", "spasticity", "and", "brain", "atrophy", "neurodevelopmental disorder", "disorder with", "with epilepsy", "and brain", "brain atrophy", "neurodevelopmental disorder with", "disorder with epilepsy", "epilepsy spasticity", "spasticity and", "and brain atrophy", "neurodevelopmental disorder with epilepsy", "with epilepsy spasticity", "spasticity and brain", "disorder with epilepsy spasticity", "epilepsy spasticity and", "spasticity and brain atrophy", "nedesba" ] }, { "record_id": "MONDO:0032894", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032894", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y296", "q9y296 1", "tppc4_human", "np_001305415", "trappc4", "cgi", "104", "cgi 104", "hspc172", "nedesba", "ptd009", "sbdn", "synbindin", "trs23" ] }, { "record_id": "MONDO:0032894", "record_type": "disease", "section": "proteins", "phraselist": [ "trafficking", "protein", "particle", "complex", "subunit", "trafficking protein", "protein particle", "particle complex", "complex subunit", "subunit 4", "trafficking protein particle", "protein particle complex", "particle complex subunit", "complex subunit 4", "trafficking protein particle complex", "protein particle complex subunit", "particle complex subunit 4", "trafficking protein particle complex subunit", "protein particle complex subunit 4", "hematopoietic", "stem/progenitor", "cell", "172", "hematopoietic stem/progenitor", "stem/progenitor cell", "cell protein", "protein 172", "hematopoietic stem/progenitor cell", "stem/progenitor cell protein", "cell protein 172", "hematopoietic stem/progenitor cell protein", "stem/progenitor cell protein 172", "hematopoietic stem/progenitor cell protein 172", "synbindin", "trs23", "homolog", "trs23 homolog", "complex 4", "particle complex 4", "protein particle complex 4", "trafficking protein particle complex 4", "isoform", "4 isoform", "isoform 2", "subunit 4 isoform", "4 isoform 2", "complex subunit 4 isoform", "subunit 4 isoform 2", "particle complex subunit 4 isoform", "complex subunit 4 isoform 2" ] }, { "record_id": "MONDO:0032897", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032897", "0032897", "mim:618748", "618748" ] }, { "record_id": "MONDO:0032897", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "hypotonia", "and", "behavioral", "abnormalities", "intellectual developmental", "developmental disorder", "disorder with", "with hypotonia", "hypotonia and", "and behavioral", "behavioral abnormalities", "intellectual developmental disorder", "developmental disorder with", "disorder with hypotonia", "with hypotonia and", "hypotonia and behavioral", "and behavioral abnormalities", "intellectual developmental disorder with", "developmental disorder with hypotonia", "disorder with hypotonia and", "with hypotonia and behavioral", "hypotonia and behavioral abnormalities", "intellectual developmental disorder with hypotonia", "developmental disorder with hypotonia and", "disorder with hypotonia and behavioral", "with hypotonia and behavioral abnormalities", "iddhba" ] }, { "record_id": "MONDO:0032897", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032897", "record_type": "disease", "section": "proteins", "phraselist": [ "p49336", "p49336 1", "cdk8_human", "np_001251", "glycoprotein", "cdk8", "iddhba", "k35" ] }, { "record_id": "MONDO:0032897", "record_type": "disease", "section": "proteins", "phraselist": [ "cyclin", "dependent", "kinase", "cyclin dependent", "dependent kinase", "kinase 8", "cyclin dependent kinase", "dependent kinase 8", "cyclin dependent kinase 8", "2.7.11.22", "2.7.11.23", "cdk8", "protein", "cdk8 protein", "protein kinase", "cdk8 protein kinase", "cell", "division", "cell division", "division protein", "cell division protein", "division protein kinase", "protein kinase 8", "cell division protein kinase", "division protein kinase 8", "cell division protein kinase 8", "mediator", "complex", "subunit", "mediator complex", "complex subunit", "subunit cdk8", "mediator complex subunit", "complex subunit cdk8", "mediator complex subunit cdk8", "of", "rna", "polymerase", "ii", "transcription", "mediator of", "of rna", "rna polymerase", "polymerase ii", "ii transcription", "transcription subunit", "mediator of rna", "of rna polymerase", "rna polymerase ii", "polymerase ii transcription", "ii transcription subunit", "transcription subunit cdk8", "mediator of rna polymerase", "of rna polymerase ii", "rna polymerase ii transcription", "polymerase ii transcription subunit", "ii transcription subunit cdk8", "mediator of rna polymerase ii", "of rna polymerase ii transcription", "rna polymerase ii transcription subunit", "polymerase ii transcription subunit cdk8", "k35", "kinase k35", "protein kinase k35", "isoform", "8 isoform", "isoform 1", "kinase 8 isoform", "8 isoform 1", "dependent kinase 8 isoform", "kinase 8 isoform 1", "cyclin dependent kinase 8 isoform", "dependent kinase 8 isoform 1" ] }, { "record_id": "MONDO:0032900", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032900", "0032900", "mim:618760", "618760" ] }, { "record_id": "MONDO:0032900", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hypotonia", "and", "autistic", "features", "or", "without", "hyperkinetic", "movements", "neurodevelopmental disorder", "disorder with", "with hypotonia", "hypotonia and", "and autistic", "autistic features", "features with", "with or", "or without", "without hyperkinetic", "hyperkinetic movements", "neurodevelopmental disorder with", "disorder with hypotonia", "with hypotonia and", "hypotonia and autistic", "and autistic features", "autistic features with", "features with or", "with or without", "or without hyperkinetic", "without hyperkinetic movements", "neurodevelopmental disorder with hypotonia", "disorder with hypotonia and", "with hypotonia and autistic", "hypotonia and autistic features", "and autistic features with", "autistic features with or", "features with or without", "with or without hyperkinetic", "or without hyperkinetic movements", "neurodevelopmental disorder with hypotonia and", "disorder with hypotonia and autistic", "with hypotonia and autistic features", "hypotonia and autistic features with", "and autistic features with or", "autistic features with or without", "features with or without hyperkinetic", "with or without hyperkinetic movements", "nedhahm" ] }, { "record_id": "MONDO:0032900", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032900", "record_type": "disease", "section": "proteins", "phraselist": [ "p63027", "p63027 1", "vamp2_human", "np_055047", "glycoprotein", "vamp2", "nedhahm", "syb2", "vamp", "vamp 2" ] }, { "record_id": "MONDO:0032900", "record_type": "disease", "section": "proteins", "phraselist": [ "vesicle", "associated", "membrane", "protein", "vesicle associated", "associated membrane", "membrane protein", "protein 2", "vesicle associated membrane", "associated membrane protein", "membrane protein 2", "vesicle associated membrane protein", "associated membrane protein 2", "vesicle associated membrane protein 2", "synaptobrevin", "synaptobrevin 2", "vamp", "vamp 2", "isoform", "2 isoform", "isoform 1", "protein 2 isoform", "2 isoform 1", "membrane protein 2 isoform", "protein 2 isoform 1", "associated membrane protein 2 isoform", "membrane protein 2 isoform 1" ] }, { "record_id": "MONDO:0032901", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032901", "0032901", "mim:618761", "618761" ] }, { "record_id": "MONDO:0032901", "record_type": "disease", "section": "disease_name", "phraselist": [ "catifa", "syndrome", "catifa syndrome" ] }, { "record_id": "MONDO:0032901", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032901", "record_type": "disease", "section": "proteins", "phraselist": [ "q4adv7", "q4adv7 1", "ric1_human", "np_001129392", "ric1", "catifa", "cip150", "kiaa1432", "ba207c16.1" ] }, { "record_id": "MONDO:0032901", "record_type": "disease", "section": "proteins", "phraselist": [ "guanine", "nucleotide", "exchange", "factor", "subunit", "ric1", "guanine nucleotide", "nucleotide exchange", "exchange factor", "factor subunit", "subunit ric1", "guanine nucleotide exchange", "nucleotide exchange factor", "exchange factor subunit", "factor subunit ric1", "guanine nucleotide exchange factor", "nucleotide exchange factor subunit", "exchange factor subunit ric1", "guanine nucleotide exchange factor subunit", "nucleotide exchange factor subunit ric1", "connexin", "43", "interacting", "protein", "of", "150", "kda", "connexin 43", "43 interacting", "interacting protein", "protein of", "of 150", "150 kda", "connexin 43 interacting", "43 interacting protein", "interacting protein of", "protein of 150", "of 150 kda", "connexin 43 interacting protein", "43 interacting protein of", "interacting protein of 150", "protein of 150 kda", "connexin 43 interacting protein of", "43 interacting protein of 150", "interacting protein of 150 kda", "homolog", "protein ric1", "ric1 homolog", "protein ric1 homolog", "rab6a", "gef", "complex", "partner", "rab6a gef", "gef complex", "complex partner", "partner 1", "rab6a gef complex", "gef complex partner", "complex partner 1", "rab6a gef complex partner", "gef complex partner 1", "rab6a gef complex partner 1", "partner protein", "protein 1", "complex partner protein", "partner protein 1", "gef complex partner protein", "complex partner protein 1", "rab6a gef complex partner protein", "gef complex partner protein 1", "homolog rab6a", "ric1 homolog rab6a", "homolog rab6a gef", "ric1 homolog rab6a gef", "homolog rab6a gef complex", "protein 150", "interacting protein 150", "protein 150 kda", "43 interacting protein 150", "interacting protein 150 kda", "connexin 43 interacting protein 150", "43 interacting protein 150 kda", "isoform", "ric1 isoform", "isoform b", "subunit ric1 isoform", "ric1 isoform b", "factor subunit ric1 isoform", "subunit ric1 isoform b", "exchange factor subunit ric1 isoform", "factor subunit ric1 isoform b" ] }, { "record_id": "MONDO:0032902", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032902", "0032902", "mim:618763", "618763" ] }, { "record_id": "MONDO:0032902", "record_type": "disease", "section": "disease_name", "phraselist": [ "joubert", "syndrome", "36", "joubert syndrome", "syndrome 36", "joubert syndrome 36", "jbts36" ] }, { "record_id": "MONDO:0032902", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032902", "record_type": "disease", "section": "proteins", "phraselist": [ "q96bn6", "q96bn6 1", "f149b_human", "np_775483", "glycoprotein", "fam149b1", "jbts36", "kiaa0974" ] }, { "record_id": "MONDO:0032902", "record_type": "disease", "section": "proteins", "phraselist": [ "primary", "cilium", "assembly", "protein", "fam149b1", "primary cilium", "cilium assembly", "assembly protein", "protein fam149b1", "primary cilium assembly", "cilium assembly protein", "assembly protein fam149b1", "primary cilium assembly protein", "cilium assembly protein fam149b1", "primary cilium assembly protein fam149b1" ] }, { "record_id": "MONDO:0032907", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032907", "0032907", "mim:618773", "618773" ] }, { "record_id": "MONDO:0032907", "record_type": "disease", "section": "disease_name", "phraselist": [ "lymphatic", "malformation", "lymphatic malformation", "malformation 8", "lymphatic malformation 8", "lmphm8" ] }, { "record_id": "MONDO:0032907", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032907", "record_type": "disease", "section": "proteins", "phraselist": [ "q16602", "q16602 1", "calrl_human", "np_001258680", "glycoprotein", "calcrl", "cgrpr", "crlr", "lmphm8" ] }, { "record_id": "MONDO:0032907", "record_type": "disease", "section": "proteins", "phraselist": [ "calcitonin", "gene", "related", "peptide", "type", "receptor", "calcitonin gene", "gene related", "related peptide", "peptide type", "type 1", "1 receptor", "calcitonin gene related", "gene related peptide", "related peptide type", "peptide type 1", "type 1 receptor", "calcitonin gene related peptide", "gene related peptide type", "related peptide type 1", "peptide type 1 receptor", "calcitonin gene related peptide type", "gene related peptide type 1", "related peptide type 1 receptor", "cgrp", "cgrp type", "cgrp type 1", "cgrp type 1 receptor", "crlr", "like", "calcitonin receptor", "receptor like", "like receptor", "calcitonin receptor like", "receptor like receptor", "calcitonin receptor like receptor", "precursor", "receptor precursor", "1 receptor precursor", "type 1 receptor precursor", "peptide type 1 receptor precursor" ] }, { "record_id": "MONDO:0032908", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032908", "0032908", "mim:618774", "618774" ] }, { "record_id": "MONDO:0032908", "record_type": "disease", "section": "disease_name", "phraselist": [ "cebalid", "syndrome", "cebalid syndrome", "mctt", "mn1", "terminal", "truncation", "mn1 c", "c terminal", "terminal truncation", "truncation syndrome", "mn1 c terminal", "c terminal truncation", "terminal truncation syndrome", "mn1 c terminal truncation", "c terminal truncation syndrome", "mn1 c terminal truncation syndrome" ] }, { "record_id": "MONDO:0032908", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032908", "record_type": "disease", "section": "proteins", "phraselist": [ "q10571", "q10571 1", "mn1_human", "np_002421", "glycoprotein", "mn1", "cebalid", "mgcr1", "pen", "mgcr1 pen", "mgcr", "dj353e16.2" ] }, { "record_id": "MONDO:0032908", "record_type": "disease", "section": "proteins", "phraselist": [ "transcriptional", "activator", "mn1", "transcriptional activator", "activator mn1", "transcriptional activator mn1", "probable", "tumor", "suppressor", "protein", "probable tumor", "tumor suppressor", "suppressor protein", "protein mn1", "probable tumor suppressor", "tumor suppressor protein", "suppressor protein mn1", "probable tumor suppressor protein", "tumor suppressor protein mn1", "probable tumor suppressor protein mn1", "meningioma", "disrupted", "in", "balanced", "translocation", "disrupted in", "in balanced", "balanced translocation", "meningioma disrupted", "disrupted in balanced", "in balanced translocation", "translocation 1", "meningioma disrupted in", "disrupted in balanced translocation", "balanced translocation 1", "meningioma disrupted in balanced", "in balanced translocation 1", "translocation balanced", "meningioma translocation", "meningioma translocation balanced", "chromosome", "region", "meningioma chromosome", "chromosome region", "region 1", "meningioma chromosome region", "chromosome region 1", "meningioma chromosome region 1" ] }, { "record_id": "MONDO:0032909", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032909", "0032909", "mim:618775", "618775" ] }, { "record_id": "MONDO:0032909", "record_type": "disease", "section": "disease_name", "phraselist": [ "mitochondrial", "complex", "iii", "deficiency", "nuclear", "type", "10", "mitochondrial complex", "complex iii", "iii deficiency", "nuclear type", "type 10", "mitochondrial complex iii", "complex iii deficiency", "deficiency nuclear", "nuclear type 10", "mitochondrial complex iii deficiency", "iii deficiency nuclear", "deficiency nuclear type", "complex iii deficiency nuclear", "iii deficiency nuclear type", "deficiency nuclear type 10", "mc3dn10" ] }, { "record_id": "MONDO:0032909", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032909", "record_type": "disease", "section": "proteins", "phraselist": [ "p47985", "p47985 1", "ucri_human", "np_005994", "glycoprotein", "uqcrfs1", "isp", "mc3dn10", "rip1", "ris1", "risp", "uqcr5" ] }, { "record_id": "MONDO:0032909", "record_type": "disease", "section": "proteins", "phraselist": [ "cytochrome", "c1", "complex", "subunit", "rieske", "mitochondrial", "cytochrome b", "b c1", "c1 complex", "complex subunit", "subunit rieske", "cytochrome b c1", "b c1 complex", "c1 complex subunit", "complex subunit rieske", "rieske mitochondrial", "cytochrome b c1 complex", "b c1 complex subunit", "c1 complex subunit rieske", "subunit rieske mitochondrial", "cytochrome b c1 complex subunit", "b c1 complex subunit rieske", "complex subunit rieske mitochondrial", "7.1.1.8", "kda", "8 kda", "kda subunit", "subunit 9", "8 kda subunit", "kda subunit 9", "8 kda subunit 9", "iii", "complex iii", "iii subunit", "subunit 5", "complex iii subunit", "iii subunit 5", "complex iii subunit 5", "iii subunit 9", "complex iii subunit 9", "ix", "subunit ix", "iii subunit ix", "complex iii subunit ix", "11", "subunit 11", "complex subunit 11", "c1 complex subunit 11", "b c1 complex subunit 11", "complex subunit 5", "c1 complex subunit 5", "b c1 complex subunit 5", "risp", "iron", "sulfur", "protein", "rieske iron", "iron sulfur", "sulfur protein", "rieske iron sulfur", "iron sulfur protein", "rieske iron sulfur protein", "uqcrfs1", "rieske protein", "protein uqcrfs1", "rieske protein uqcrfs1", "mts", "uqcrfs1 mts", "targeting", "sequence", "uqcrfs1 mitochondrial", "mitochondrial targeting", "targeting sequence", "uqcrfs1 mitochondrial targeting", "mitochondrial targeting sequence", "uqcrfs1 mitochondrial targeting sequence", "ubiquinol", "reductase", "ubiquinol cytochrome", "cytochrome c", "c reductase", "reductase 8", "kda protein", "ubiquinol cytochrome c", "cytochrome c reductase", "c reductase 8", "reductase 8 kda", "8 kda protein", "ubiquinol cytochrome c reductase", "cytochrome c reductase 8", "c reductase 8 kda", "reductase 8 kda protein", "ubiquinol cytochrome c reductase 8", "cytochrome c reductase 8 kda", "c reductase 8 kda protein", "reductase iron", "sulfur subunit", "c reductase iron", "reductase iron sulfur", "iron sulfur subunit", "cytochrome c reductase iron", "c reductase iron sulfur", "reductase iron sulfur subunit", "ubiquinol cytochrome c reductase iron", "cytochrome c reductase iron sulfur", "c reductase iron sulfur subunit", "epididymis", "secretory", "sperm", "binding", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein" ] }, { "record_id": "MONDO:0032913", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032913", "0032913", "mim:618780", "618780" ] }, { "record_id": "MONDO:0032913", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "heart", "defects", "multiple", "types", "congenital heart", "heart defects", "multiple types", "congenital heart defects", "defects multiple", "types 7", "heart defects multiple", "defects multiple types", "multiple types 7", "congenital heart defects multiple", "heart defects multiple types", "chtd7" ] }, { "record_id": "MONDO:0032913", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032913", "record_type": "disease", "section": "proteins", "phraselist": [ "p35916", "p35916 2", "vgfr3_human", "np_002011", "glycoprotein", "flt4", "chtd7", "flt", "flt 4", "flt41", "lmph1a", "lmphm1", "pcl", "vegfr", "vegfr 3", "vegfr3" ] }, { "record_id": "MONDO:0032913", "record_type": "disease", "section": "proteins", "phraselist": [ "vascular", "endothelial", "growth", "factor", "receptor", "vascular endothelial", "endothelial growth", "growth factor", "factor receptor", "receptor 3", "vascular endothelial growth", "endothelial growth factor", "growth factor receptor", "factor receptor 3", "vascular endothelial growth factor", "endothelial growth factor receptor", "growth factor receptor 3", "vascular endothelial growth factor receptor", "endothelial growth factor receptor 3", "2.7.10.1", "flt", "flt 4", "feline", "mcdonough", "sarcoma", "fms", "like", "tyrosine", "kinase", "feline mcdonough", "mcdonough sarcoma", "like tyrosine", "tyrosine kinase", "kinase 4", "feline mcdonough sarcoma", "sarcoma fms", "fms like", "like tyrosine kinase", "tyrosine kinase 4", "mcdonough sarcoma fms", "fms like tyrosine", "like tyrosine kinase 4", "feline mcdonough sarcoma fms", "sarcoma fms like", "fms like tyrosine kinase", "fms like tyrosine kinase 4", "protein", "flt4", "tyrosine protein", "protein kinase", "kinase receptor", "receptor flt4", "tyrosine protein kinase", "protein kinase receptor", "kinase receptor flt4", "tyrosine protein kinase receptor", "protein kinase receptor flt4", "tyrosine protein kinase receptor flt4", "vegf", "vegf receptor", "vegf receptor 3", "vegfr", "vegfr 3", "related", "fms related", "related tyrosine", "fms related tyrosine", "related tyrosine kinase", "fms related tyrosine kinase", "related tyrosine kinase 4", "fms related tyrosine kinase 4", "primary", "congenital", "lymphedema", "primary congenital", "congenital lymphedema", "primary congenital lymphedema", "isoform", "precursor", "3 isoform", "isoform 2", "2 precursor", "receptor 3 isoform", "3 isoform 2", "isoform 2 precursor", "factor receptor 3 isoform", "receptor 3 isoform 2", "3 isoform 2 precursor", "growth factor receptor 3 isoform", "factor receptor 3 isoform 2", "receptor 3 isoform 2 precursor" ] }, { "record_id": "MONDO:0032916", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032916", "0032916", "mim:618786", "618786" ] }, { "record_id": "MONDO:0032916", "record_type": "disease", "section": "disease_name", "phraselist": [ "imagawa", "matsumoto", "syndrome", "imagawa matsumoto", "matsumoto syndrome", "imagawa matsumoto syndrome", "immas" ] }, { "record_id": "MONDO:0032916", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032916", "record_type": "disease", "section": "proteins", "phraselist": [ "q15022", "q15022 1", "suz12_human", "np_056170", "glycoprotein", "suz12", "chet9", "immas", "jjaz1", "kiaa0160" ] }, { "record_id": "MONDO:0032916", "record_type": "disease", "section": "proteins", "phraselist": [ "polycomb", "protein", "suz12", "polycomb protein", "protein suz12", "polycomb protein suz12", "chet", "chet 9", "9 protein", "chet 9 protein", "chromatin", "precipitated", "e2f", "target", "chromatin precipitated", "precipitated e2f", "e2f target", "target 9", "chromatin precipitated e2f", "precipitated e2f target", "e2f target 9", "target 9 protein", "chromatin precipitated e2f target", "precipitated e2f target 9", "e2f target 9 protein", "chromatin precipitated e2f target 9", "precipitated e2f target 9 protein", "joined", "to", "jazf1", "joined to", "to jazf1", "jazf1 protein", "joined to jazf1", "to jazf1 protein", "joined to jazf1 protein", "suppressor", "of", "zeste", "12", "homolog", "suppressor of", "of zeste", "zeste 12", "12 protein", "protein homolog", "suppressor of zeste", "of zeste 12", "zeste 12 protein", "12 protein homolog", "suppressor of zeste 12", "of zeste 12 protein", "zeste 12 protein homolog", "suppressor of zeste 12 protein", "of zeste 12 protein homolog", "isoform", "suz12 isoform", "isoform 1", "protein suz12 isoform", "suz12 isoform 1", "polycomb protein suz12 isoform", "protein suz12 isoform 1", "polycomb protein suz12 isoform 1" ] }, { "record_id": "MONDO:0032920", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032920", "0032920", "mim:618795", "618795" ] }, { "record_id": "MONDO:0032920", "record_type": "disease", "section": "disease_name", "phraselist": [ "juvenile", "arthritis", "due", "to", "defect", "in", "lacc1", "juvenile arthritis", "arthritis due", "due to", "to defect", "defect in", "in lacc1", "juvenile arthritis due", "arthritis due to", "due to defect", "to defect in", "defect in lacc1", "juvenile arthritis due to", "arthritis due to defect", "due to defect in", "to defect in lacc1", "juvenile arthritis due to defect", "arthritis due to defect in", "due to defect in lacc1", "juvar" ] }, { "record_id": "MONDO:0032920", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032920", "record_type": "disease", "section": "proteins", "phraselist": [ "q8iv20", "q8iv20 1", "lacc1_human", "np_001121775", "glycoprotein", "lacc1", "c13orf31", "famin", "juvar" ] }, { "record_id": "MONDO:0032920", "record_type": "disease", "section": "proteins", "phraselist": [ "purine", "nucleoside", "phosphorylase", "lacc1", "purine nucleoside", "nucleoside phosphorylase", "phosphorylase lacc1", "purine nucleoside phosphorylase", "nucleoside phosphorylase lacc1", "purine nucleoside phosphorylase lacc1", "2.4.2.1", "2.4.2.28", "3.5.4.4", "4.3.3.", "adenosine", "deaminase", "adenosine deaminase", "deaminase lacc1", "adenosine deaminase lacc1", "fatty", "acid", "metabolism", "immunity", "nexus", "fatty acid", "acid metabolism", "metabolism immunity", "immunity nexus", "fatty acid metabolism", "acid metabolism immunity", "metabolism immunity nexus", "fatty acid metabolism immunity", "acid metabolism immunity nexus", "fatty acid metabolism immunity nexus", "guanosine", "guanosine phosphorylase", "guanosine phosphorylase lacc1", "isocyanic", "synthase", "isocyanic acid", "acid synthase", "isocyanic acid synthase", "laccase", "domain", "containing", "protein", "laccase domain", "domain containing", "containing protein", "protein 1", "laccase domain containing", "domain containing protein", "containing protein 1", "laccase domain containing protein", "domain containing protein 1", "laccase domain containing protein 1", "methyl", "5'", "thioadenosine", "s methyl", "methyl 5'", "5' thioadenosine", "thioadenosine phosphorylase", "s methyl 5'", "methyl 5' thioadenosine", "5' thioadenosine phosphorylase", "thioadenosine phosphorylase lacc1", "s methyl 5' thioadenosine", "methyl 5' thioadenosine phosphorylase", "5' thioadenosine phosphorylase lacc1", "s methyl 5' thioadenosine phosphorylase", "methyl 5' thioadenosine phosphorylase lacc1", "multicopper", "oxidoreductase", "multicopper oxidoreductase", "containing 1", "laccase multicopper", "oxidoreductase domain", "domain containing 1", "laccase multicopper oxidoreductase", "multicopper oxidoreductase domain", "oxidoreductase domain containing", "multicopper oxidoreductase domain containing", "oxidoreductase domain containing 1", "isoform", "lacc1 isoform", "isoform 1", "phosphorylase lacc1 isoform", "lacc1 isoform 1", "nucleoside phosphorylase lacc1 isoform", "phosphorylase lacc1 isoform 1", "purine nucleoside phosphorylase lacc1 isoform", "nucleoside phosphorylase lacc1 isoform 1" ] }, { "record_id": "MONDO:0032921", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032921", "0032921", "mim:618797", "618797" ] }, { "record_id": "MONDO:0032921", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hypotonia", "neonatal", "respiratory", "insufficiency", "and", "thermodysregulation", "neurodevelopmental disorder", "disorder with", "with hypotonia", "neonatal respiratory", "respiratory insufficiency", "and thermodysregulation", "neurodevelopmental disorder with", "disorder with hypotonia", "hypotonia neonatal", "neonatal respiratory insufficiency", "insufficiency and", "neurodevelopmental disorder with hypotonia", "with hypotonia neonatal", "hypotonia neonatal respiratory", "respiratory insufficiency and", "insufficiency and thermodysregulation", "disorder with hypotonia neonatal", "with hypotonia neonatal respiratory", "hypotonia neonatal respiratory insufficiency", "neonatal respiratory insufficiency and", "respiratory insufficiency and thermodysregulation", "nedhrit" ] }, { "record_id": "MONDO:0032921", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032921", "record_type": "disease", "section": "proteins", "phraselist": [ "q6gyq0", "q6gyq0 1", "rgpa1_human", "np_001317004", "glycoprotein", "ralgapa1", "garnl1", "gripe", "kiaa0884", "nedhrit", "ralgapalpha1", "tulip1", "p240" ] }, { "record_id": "MONDO:0032921", "record_type": "disease", "section": "proteins", "phraselist": [ "ral", "gtpase", "activating", "protein", "subunit", "alpha", "ral gtpase", "gtpase activating", "activating protein", "protein subunit", "subunit alpha", "alpha 1", "ral gtpase activating", "gtpase activating protein", "activating protein subunit", "protein subunit alpha", "subunit alpha 1", "ral gtpase activating protein", "gtpase activating protein subunit", "activating protein subunit alpha", "protein subunit alpha 1", "ral gtpase activating protein subunit", "gtpase activating protein subunit alpha", "activating protein subunit alpha 1", "gap", "related", "interacting", "to", "e12", "gap related", "related interacting", "interacting protein", "protein to", "to e12", "gap related interacting", "related interacting protein", "interacting protein to", "protein to e12", "gap related interacting protein", "related interacting protein to", "interacting protein to e12", "gap related interacting protein to", "related interacting protein to e12", "partner", "interacting partner", "partner to", "related interacting partner", "interacting partner to", "partner to e12", "gap related interacting partner", "related interacting partner to", "interacting partner to e12", "gap related interacting partner to", "related interacting partner to e12", "gripe", "rap/rangap", "domain", "like", "activating rap/rangap", "rap/rangap domain", "domain like", "like 1", "gtpase activating rap/rangap", "activating rap/rangap domain", "rap/rangap domain like", "domain like 1", "gtpase activating rap/rangap domain", "activating rap/rangap domain like", "rap/rangap domain like 1", "gtpase activating rap/rangap domain like", "activating rap/rangap domain like 1", "rap/ran", "activating rap/ran", "rap/ran gap", "gap domain", "gtpase activating rap/ran", "activating rap/ran gap", "rap/ran gap domain", "gap domain like", "gtpase activating rap/ran gap", "activating rap/ran gap domain", "rap/ran gap domain like", "gap domain like 1", "gtpase activating rap/ran gap domain", "activating rap/ran gap domain like", "rap/ran gap domain like 1", "catalytic", "protein catalytic", "catalytic alpha", "alpha subunit", "subunit 1", "activating protein catalytic", "protein catalytic alpha", "catalytic alpha subunit", "alpha subunit 1", "gtpase activating protein catalytic", "activating protein catalytic alpha", "protein catalytic alpha subunit", "catalytic alpha subunit 1", "ral gtpase activating protein catalytic", "gtpase activating protein catalytic alpha", "activating protein catalytic alpha subunit", "protein catalytic alpha subunit 1", "protein alpha", "1 catalytic", "activating protein alpha", "protein alpha subunit", "subunit 1 catalytic", "gtpase activating protein alpha", "activating protein alpha subunit", "protein alpha subunit 1", "alpha subunit 1 catalytic", "tuberin", "tuberin like", "like protein", "protein 1", "tuberin like protein", "like protein 1", "tuberin like protein 1", "p240", "isoform", "1 isoform", "isoform 5", "alpha 1 isoform", "1 isoform 5", "subunit alpha 1 isoform", "alpha 1 isoform 5", "protein subunit alpha 1 isoform", "subunit alpha 1 isoform 5" ] }, { "record_id": "MONDO:0032922", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032922", "0032922", "mim:618798", "618798" ] }, { "record_id": "MONDO:0032922", "record_type": "disease", "section": "disease_name", "phraselist": [ "beck", "fahrner", "syndrome", "beck fahrner", "fahrner syndrome", "beck fahrner syndrome", "befahrs" ] }, { "record_id": "MONDO:0032922", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032922", "record_type": "disease", "section": "proteins", "phraselist": [ "o43151", "o43151 1", "tet3_human", "np_001274420", "glycoprotein", "tet3", "befahrs", "cxxc10", "kiaa0401", "hcg_40738" ] }, { "record_id": "MONDO:0032922", "record_type": "disease", "section": "proteins", "phraselist": [ "methylcytosine", "dioxygenase", "tet3", "methylcytosine dioxygenase", "dioxygenase tet3", "methylcytosine dioxygenase tet3", "1.14.11.80", "isoform", "tet3 isoform", "isoform 1", "dioxygenase tet3 isoform", "tet3 isoform 1", "methylcytosine dioxygenase tet3 isoform", "dioxygenase tet3 isoform 1", "methylcytosine dioxygenase tet3 isoform 1", "probable", "probable methylcytosine", "probable methylcytosine dioxygenase", "probable methylcytosine dioxygenase tet3", "putative", "putative methylcytosine", "putative methylcytosine dioxygenase", "ten", "eleven", "translocation", "ten eleven", "eleven translocation", "translocation 3", "ten eleven translocation", "eleven translocation 3", "ten eleven translocation 3", "tet", "oncogene", "family", "member", "tet oncogene", "oncogene family", "family member", "member 3", "tet oncogene family", "oncogene family member", "family member 3", "tet oncogene family member", "oncogene family member 3", "tet oncogene family member 3" ] }, { "record_id": "MONDO:0032925", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032925", "0032925", "mim:618803", "618803" ] }, { "record_id": "MONDO:0032925", "record_type": "disease", "section": "disease_name", "phraselist": [ "respiratory", "papillomatosis", "juvenile", "recurrent", "congenital", "respiratory papillomatosis", "juvenile recurrent", "papillomatosis juvenile", "recurrent congenital", "respiratory papillomatosis juvenile", "papillomatosis juvenile recurrent", "juvenile recurrent congenital", "respiratory papillomatosis juvenile recurrent", "jrrp" ] }, { "record_id": "MONDO:0032925", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032925", "record_type": "disease", "section": "proteins", "phraselist": [ "q9c000", "q9c000 1", "nlrp1_human", "np_001028225", "nlrp1", "aiadk", "card7", "cided", "clr17.1", "defcap", "l/s", "defcap l/s", "jrrp", "kiaa0926", "mspc", "nac", "nalp1", "pp1044", "slev1", "vamas1" ] }, { "record_id": "MONDO:0032925", "record_type": "disease", "section": "proteins", "phraselist": [ "nacht", "lrr", "and", "pyd", "domains", "containing", "protein", "lrr and", "and pyd", "pyd domains", "domains containing", "containing protein", "protein 1", "nacht lrr", "lrr and pyd", "and pyd domains", "pyd domains containing", "domains containing protein", "containing protein 1", "nacht lrr and", "lrr and pyd domains", "and pyd domains containing", "pyd domains containing protein", "domains containing protein 1", "nacht lrr and pyd", "lrr and pyd domains containing", "and pyd domains containing protein", "pyd domains containing protein 1", "3.4.", "3.4. .", "3.6.4.", "caspase", "recruitment", "domain", "caspase recruitment", "recruitment domain", "domain containing", "protein 7", "caspase recruitment domain", "recruitment domain containing", "domain containing protein", "containing protein 7", "caspase recruitment domain containing", "recruitment domain containing protein", "domain containing protein 7", "caspase recruitment domain containing protein", "recruitment domain containing protein 7", "death", "effector", "filament", "forming", "ced", "like", "apoptosis", "death effector", "effector filament", "filament forming", "forming ced", "ced 4", "4 like", "like apoptosis", "apoptosis protein", "death effector filament", "effector filament forming", "filament forming ced", "forming ced 4", "ced 4 like", "4 like apoptosis", "like apoptosis protein", "death effector filament forming", "effector filament forming ced", "filament forming ced 4", "forming ced 4 like", "ced 4 like apoptosis", "4 like apoptosis protein", "death effector filament forming ced", "effector filament forming ced 4", "filament forming ced 4 like", "forming ced 4 like apoptosis", "ced 4 like apoptosis protein", "pyd containing", "and pyd containing", "pyd containing protein", "lrr and pyd containing", "and pyd containing protein", "pyd containing protein 1", "lrr and pyd containing protein", "and pyd containing protein 1", "isoform", "1 isoform", "isoform 5", "protein 1 isoform", "1 isoform 5", "containing protein 1 isoform", "protein 1 isoform 5", "domains containing protein 1 isoform", "containing protein 1 isoform 5", "leucine", "rich", "repeat", "pyrin", "leucine rich", "rich repeat", "repeat and", "pyrin domain", "containing 1", "nacht leucine", "leucine rich repeat", "rich repeat and", "repeat and pyd", "pyd pyrin", "nacht leucine rich", "leucine rich repeat and", "rich repeat and pyd", "and pyd pyrin", "pyd pyrin domain", "pyrin domain containing", "domain containing 1", "nacht leucine rich repeat", "leucine rich repeat and pyd", "repeat and pyd pyrin", "and pyd pyrin domain", "pyrin domain containing 1", "pyd containing 1", "repeat and pyd containing", "and pyd containing 1", "rich repeat and pyd containing", "repeat and pyd containing 1", "nucleotide", "binding", "nucleotide binding", "binding domain", "domain and", "and caspase", "nucleotide binding domain", "binding domain and", "domain and caspase", "and caspase recruitment", "nucleotide binding domain and", "binding domain and caspase", "domain and caspase recruitment", "and caspase recruitment domain", "nucleotide binding domain and caspase", "binding domain and caspase recruitment", "domain and caspase recruitment domain", "domain protein", "recruitment domain protein", "domain protein 7", "caspase recruitment domain protein", "recruitment domain protein 7", "caspase recruitment domain protein 7", "oligomerization", "binding oligomerization", "oligomerization domain", "and pyrin", "nucleotide binding oligomerization", "binding oligomerization domain", "domain leucine", "repeat and pyrin", "and pyrin domain", "nucleotide binding oligomerization domain", "oligomerization domain leucine", "domain leucine rich", "rich repeat and pyrin", "repeat and pyrin domain", "and pyrin domain containing", "binding oligomerization domain leucine", "oligomerization domain leucine rich", "domain leucine rich repeat", "leucine rich repeat and pyrin", "rich repeat and pyrin domain", "repeat and pyrin domain containing", "and pyrin domain containing 1" ] }, { "record_id": "MONDO:0032927", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032927", "0032927", "mim:618805", "618805" ] }, { "record_id": "MONDO:0032927", "record_type": "disease", "section": "disease_name", "phraselist": [ "triokinase", "and", "fmn", "cyclase", "deficiency", "syndrome", "triokinase and", "and fmn", "fmn cyclase", "cyclase deficiency", "deficiency syndrome", "triokinase and fmn", "and fmn cyclase", "fmn cyclase deficiency", "cyclase deficiency syndrome", "triokinase and fmn cyclase", "and fmn cyclase deficiency", "fmn cyclase deficiency syndrome", "triokinase and fmn cyclase deficiency", "and fmn cyclase deficiency syndrome", "tkfcd" ] }, { "record_id": "MONDO:0032927", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032927", "record_type": "disease", "section": "proteins", "phraselist": [ "q3lxa3", "q3lxa3 1", "tkfc_human", "np_056348", "glycoprotein", "tkfc", "dak", "net45", "tkfcd" ] }, { "record_id": "MONDO:0032927", "record_type": "disease", "section": "proteins", "phraselist": [ "triokinase/fmn", "cyclase", "triokinase/fmn cyclase", "atp", "dependent", "dihydroxyacetone", "kinase", "atp dependent", "dependent dihydroxyacetone", "dihydroxyacetone kinase", "atp dependent dihydroxyacetone", "dependent dihydroxyacetone kinase", "atp dependent dihydroxyacetone kinase", "bifunctional", "kinase/fad", "amp", "lyase", "cyclizing", "bifunctional atp", "dihydroxyacetone kinase/fad", "kinase/fad amp", "amp lyase", "bifunctional atp dependent", "dependent dihydroxyacetone kinase/fad", "dihydroxyacetone kinase/fad amp", "kinase/fad amp lyase", "lyase cyclizing", "bifunctional atp dependent dihydroxyacetone", "atp dependent dihydroxyacetone kinase/fad", "dependent dihydroxyacetone kinase/fad amp", "dihydroxyacetone kinase/fad amp lyase", "amp lyase cyclizing", "bifunctional atp dependent dihydroxyacetone kinase/fad", "atp dependent dihydroxyacetone kinase/fad amp", "dependent dihydroxyacetone kinase/fad amp lyase", "kinase/fad amp lyase cyclizing", "dha", "dha kinase", "kinase/fmn", "dha kinase/fmn", "kinase/fmn cyclase", "dha kinase/fmn cyclase", "fad", "cyclic", "fmn", "forming", "fad amp", "cyclic fmn", "fmn forming", "fad amp lyase", "lyase cyclic", "cyclic fmn forming", "amp lyase cyclic", "lyase cyclic fmn", "fad amp lyase cyclic", "amp lyase cyclic fmn", "lyase cyclic fmn forming", "fad amp lyase cyclic fmn", "amp lyase cyclic fmn forming", "fad amp lyase cyclizing", "fmn cyclase", "glycerone", "glycerone kinase", "triokinase", "triose", "triose kinase", "homolog", "kinase 2", "2 homolog", "dihydroxyacetone kinase 2", "kinase 2 homolog", "dihydroxyacetone kinase 2 homolog", "testis", "tissue", "sperm", "binding", "protein", "li", "84p", "testis tissue", "tissue sperm", "sperm binding", "binding protein", "protein li", "li 84p", "testis tissue sperm", "tissue sperm binding", "sperm binding protein", "binding protein li", "protein li 84p", "testis tissue sperm binding", "tissue sperm binding protein", "sperm binding protein li", "binding protein li 84p", "testis tissue sperm binding protein", "tissue sperm binding protein li", "sperm binding protein li 84p", "isoform", "cyclase isoform", "isoform b", "triokinase/fmn cyclase isoform", "cyclase isoform b", "triokinase/fmn cyclase isoform b" ] }, { "record_id": "MONDO:0032928", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032928", "0032928", "mim:618806", "618806" ] }, { "record_id": "MONDO:0032928", "record_type": "disease", "section": "disease_name", "phraselist": [ "cell", "lymphopenia", "infantile", "with", "or", "without", "nail", "dystrophy", "autosomal", "dominant", "t cell", "cell lymphopenia", "with or", "or without", "without nail", "nail dystrophy", "autosomal dominant", "t cell lymphopenia", "lymphopenia infantile", "infantile with", "with or without", "or without nail", "without nail dystrophy", "dystrophy autosomal", "cell lymphopenia infantile", "infantile with or", "with or without nail", "or without nail dystrophy", "nail dystrophy autosomal", "dystrophy autosomal dominant", "t cell lymphopenia infantile", "lymphopenia infantile with", "infantile with or without", "with or without nail dystrophy", "without nail dystrophy autosomal", "nail dystrophy autosomal dominant", "tlind" ] }, { "record_id": "MONDO:0032928", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032928", "record_type": "disease", "section": "proteins", "phraselist": [ "o15353", "o15353 1", "foxn1_human", "np_003584", "foxn1", "fkhl20", "ronu", "tidand", "tidta", "tlind", "whn" ] }, { "record_id": "MONDO:0032928", "record_type": "disease", "section": "proteins", "phraselist": [ "forkhead", "box", "protein", "n1", "forkhead box", "box protein", "protein n1", "forkhead box protein", "box protein n1", "forkhead box protein n1", "rowett", "nude", "rowett nude", "winged", "helix", "transcription", "factor", "winged helix", "helix transcription", "transcription factor", "factor nude", "winged helix transcription", "helix transcription factor", "transcription factor nude", "winged helix transcription factor", "helix transcription factor nude", "winged helix transcription factor nude", "helix nude", "winged helix nude" ] }, { "record_id": "MONDO:0032930", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032930", "0032930", "mim:618808", "618808" ] }, { "record_id": "MONDO:0032930", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "poor", "growth", "and", "or", "without", "seizures", "ataxia", "intellectual developmental", "developmental disorder", "disorder with", "with poor", "poor growth", "growth and", "and with", "with or", "or without", "without seizures", "seizures or", "or ataxia", "intellectual developmental disorder", "developmental disorder with", "disorder with poor", "with poor growth", "poor growth and", "growth and with", "and with or", "with or without", "or without seizures", "without seizures or", "seizures or ataxia", "intellectual developmental disorder with", "developmental disorder with poor", "disorder with poor growth", "with poor growth and", "poor growth and with", "growth and with or", "and with or without", "with or without seizures", "or without seizures or", "without seizures or ataxia", "intellectual developmental disorder with poor", "developmental disorder with poor growth", "disorder with poor growth and", "with poor growth and with", "poor growth and with or", "growth and with or without", "and with or without seizures", "with or without seizures or", "or without seizures or ataxia", "idpogsa" ] }, { "record_id": "MONDO:0032930", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032930", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bzc7", "q9bzc7 1", "abca2_human", "np_001597", "glycoprotein", "abca2", "abc2", "idpogsa", "kiaa1062" ] }, { "record_id": "MONDO:0032930", "record_type": "disease", "section": "proteins", "phraselist": [ "atp", "binding", "cassette", "sub", "family", "member", "atp binding", "binding cassette", "cassette sub", "sub family", "family a", "a member", "member 2", "atp binding cassette", "binding cassette sub", "cassette sub family", "sub family a", "family a member", "a member 2", "atp binding cassette sub", "binding cassette sub family", "cassette sub family a", "sub family a member", "family a member 2", "atp binding cassette sub family", "binding cassette sub family a", "cassette sub family a member", "sub family a member 2", "7.6.2.", "cassette 2", "binding cassette 2", "atp binding cassette 2", "isoform", "2 isoform", "isoform a", "member 2 isoform", "2 isoform a", "a member 2 isoform", "member 2 isoform a", "family a member 2 isoform", "a member 2 isoform a", "transporter", "cassette transporter", "transporter 2", "binding cassette transporter", "cassette transporter 2", "atp binding cassette transporter", "binding cassette transporter 2", "atp binding cassette transporter 2", "abc1", "a abc1", "family a abc1", "abc1 member", "sub family a abc1", "abc1 member 2" ] }, { "record_id": "MONDO:0032934", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032934", "0032934", "mim:618820", "618820" ] }, { "record_id": "MONDO:0032934", "record_type": "disease", "section": "disease_name", "phraselist": [ "genitourinary", "and/or", "brain", "malformation", "syndrome", "genitourinary and/or", "and/or brain", "brain malformation", "malformation syndrome", "genitourinary and/or brain", "and/or brain malformation", "brain malformation syndrome", "genitourinary and/or brain malformation", "and/or brain malformation syndrome", "genitourinary and/or brain malformation syndrome", "gub", "gub syndrome", "ubm", "ubm syndrome", "ubms", "urogenital", "urogenital and/or", "urogenital and/or brain", "urogenital and/or brain malformation", "urogenital and/or brain malformation syndrome", "and/or/brain", "genitourinary and/or/brain", "and/or/brain malformation", "genitourinary and/or/brain malformation", "and/or/brain malformation syndrome", "genitourinary and/or/brain malformation syndrome", "gubs" ] }, { "record_id": "MONDO:0032934", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032934", "record_type": "disease", "section": "proteins", "phraselist": [ "o14974", "o14974 1", "mypt1_human", "np_001137357", "glycoprotein", "ppp1r12a", "gubs", "m130", "mbs", "mypt1" ] }, { "record_id": "MONDO:0032934", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "phosphatase", "regulatory", "subunit", "12a", "protein phosphatase", "phosphatase 1", "1 regulatory", "regulatory subunit", "subunit 12a", "protein phosphatase 1", "phosphatase 1 regulatory", "1 regulatory subunit", "regulatory subunit 12a", "protein phosphatase 1 regulatory", "phosphatase 1 regulatory subunit", "1 regulatory subunit 12a", "protein phosphatase 1 regulatory subunit", "phosphatase 1 regulatory subunit 12a", "myosin", "target", "myosin phosphatase", "phosphatase target", "target subunit", "subunit 1", "myosin phosphatase target", "phosphatase target subunit", "target subunit 1", "myosin phosphatase target subunit", "phosphatase target subunit 1", "myosin phosphatase target subunit 1", "targeting", "phosphatase targeting", "targeting subunit", "myosin phosphatase targeting", "phosphatase targeting subunit", "targeting subunit 1", "myosin phosphatase targeting subunit", "phosphatase targeting subunit 1", "myosin phosphatase targeting subunit 1", "binding", "phosphatase myosin", "myosin binding", "binding subunit", "protein phosphatase myosin", "phosphatase myosin binding", "myosin binding subunit", "protein phosphatase myosin binding", "phosphatase myosin binding subunit", "protein phosphatase myosin binding subunit", "isoform", "12a isoform", "isoform a", "subunit 12a isoform", "12a isoform a", "regulatory subunit 12a isoform", "subunit 12a isoform a", "1 regulatory subunit 12a isoform", "regulatory subunit 12a isoform a", "inhibitor", "regulatory inhibitor", "inhibitor subunit", "inhibitor subunit 12a", "1 regulatory inhibitor", "regulatory inhibitor subunit" ] }, { "record_id": "MONDO:0032935", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032935", "0032935", "mim:618821", "618821" ] }, { "record_id": "MONDO:0032935", "record_type": "disease", "section": "disease_name", "phraselist": [ "rhizomelic", "limb", "shortening", "with", "dysmorphic", "features", "rhizomelic limb", "limb shortening", "shortening with", "with dysmorphic", "dysmorphic features", "rhizomelic limb shortening", "limb shortening with", "shortening with dysmorphic", "with dysmorphic features", "rhizomelic limb shortening with", "limb shortening with dysmorphic", "shortening with dysmorphic features", "rhizomelic limb shortening with dysmorphic", "limb shortening with dysmorphic features", "rlsdf" ] }, { "record_id": "MONDO:0032935", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032935", "record_type": "disease", "section": "proteins", "phraselist": [ "q504y2", "q504y2 1", "pkdcc_human", "np_612379", "glycoprotein", "pkdcc", "rlsdf", "sgk493", "vlk" ] }, { "record_id": "MONDO:0032935", "record_type": "disease", "section": "proteins", "phraselist": [ "extracellular", "tyrosine", "protein", "kinase", "pkdcc", "extracellular tyrosine", "tyrosine protein", "protein kinase", "kinase pkdcc", "extracellular tyrosine protein", "tyrosine protein kinase", "protein kinase pkdcc", "extracellular tyrosine protein kinase", "tyrosine protein kinase pkdcc", "extracellular tyrosine protein kinase pkdcc", "2.7.10.2", "domain", "containing", "cytoplasmic", "kinase domain", "domain containing", "containing protein", "protein kinase domain", "kinase domain containing", "domain containing protein", "protein cytoplasmic", "protein kinase domain containing", "kinase domain containing protein", "containing protein cytoplasmic", "protein kinase domain containing protein", "domain containing protein cytoplasmic", "like", "sgk493", "kinase like", "like protein", "protein sgk493", "protein kinase like", "kinase like protein", "like protein sgk493", "protein kinase like protein", "kinase like protein sgk493", "protein kinase like protein sgk493", "sugen", "493", "sugen kinase", "kinase 493", "sugen kinase 493", "vertebrate", "lonesome", "vertebrate lonesome", "lonesome kinase", "vertebrate lonesome kinase", "precursor", "pkdcc precursor", "kinase pkdcc precursor", "protein kinase pkdcc precursor", "tyrosine protein kinase pkdcc precursor", "homolog", "cytoplasmic homolog", "containing cytoplasmic", "domain containing cytoplasmic", "containing cytoplasmic homolog", "kinase domain containing cytoplasmic", "domain containing cytoplasmic homolog" ] }, { "record_id": "MONDO:0032938", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032938", "0032938", "mim:618824", "618824" ] }, { "record_id": "MONDO:0032938", "record_type": "disease", "section": "disease_name", "phraselist": [ "basal", "ganglia", "calcification", "idiopathic", "autosomal", "recessive", "basal ganglia", "ganglia calcification", "autosomal recessive", "basal ganglia calcification", "calcification idiopathic", "idiopathic 8", "8 autosomal", "ganglia calcification idiopathic", "8 autosomal recessive", "basal ganglia calcification idiopathic", "calcification idiopathic 8", "idiopathic 8 autosomal", "ibgc8" ] }, { "record_id": "MONDO:0032938", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032938", "record_type": "disease", "section": "proteins", "phraselist": [ "p57087", "p57087 1", "jam2_human", "np_001257336", "glycoprotein", "jam2", "c21orf43", "cd322", "ibgc8", "jam", "jam b", "jamb", "pro245", "ve", "ve jam", "vejam" ] }, { "record_id": "MONDO:0032938", "record_type": "disease", "section": "proteins", "phraselist": [ "junctional", "adhesion", "molecule", "junctional adhesion", "adhesion molecule", "molecule b", "junctional adhesion molecule", "adhesion molecule b", "junctional adhesion molecule b", "jam", "jam 2", "jam b", "it/ve", "jam it/ve", "it/ve jam", "jam it/ve jam", "molecule 2", "adhesion molecule 2", "junctional adhesion molecule 2", "ve", "ve jam", "vascular", "endothelial", "junction", "associated", "vascular endothelial", "endothelial junction", "junction associated", "associated molecule", "vascular endothelial junction", "endothelial junction associated", "junction associated molecule", "vascular endothelial junction associated", "endothelial junction associated molecule", "vascular endothelial junction associated molecule", "isoform", "precursor", "b isoform", "isoform 2", "2 precursor", "molecule b isoform", "b isoform 2", "isoform 2 precursor", "adhesion molecule b isoform", "molecule b isoform 2", "b isoform 2 precursor", "junctional adhesion molecule b isoform", "adhesion molecule b isoform 2", "molecule b isoform 2 precursor" ] }, { "record_id": "MONDO:0032941", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032941", "0032941", "mim:618827", "618827" ] }, { "record_id": "MONDO:0032941", "record_type": "disease", "section": "disease_name", "phraselist": [ "myopia", "27", "myopia 27", "myp27", "autosomal", "dominant", "autosomal dominant", "27 autosomal", "myopia 27 autosomal", "27 autosomal dominant", "myopia 27 autosomal dominant" ] }, { "record_id": "MONDO:0032941", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032941", "record_type": "disease", "section": "proteins", "phraselist": [ "q10570", "q10570 1", "cpsf1_human", "np_037423", "glycoprotein", "cpsf1", "cpsf160", "hsu37012", "myp27", "p/cl.18" ] }, { "record_id": "MONDO:0032941", "record_type": "disease", "section": "proteins", "phraselist": [ "cleavage", "and", "polyadenylation", "specificity", "factor", "subunit", "cleavage and", "and polyadenylation", "polyadenylation specificity", "specificity factor", "factor subunit", "subunit 1", "cleavage and polyadenylation", "and polyadenylation specificity", "polyadenylation specificity factor", "specificity factor subunit", "factor subunit 1", "cleavage and polyadenylation specificity", "and polyadenylation specificity factor", "polyadenylation specificity factor subunit", "specificity factor subunit 1", "cleavage and polyadenylation specificity factor", "and polyadenylation specificity factor subunit", "polyadenylation specificity factor subunit 1", "cpsf", "160", "kda", "cpsf 160", "160 kda", "kda subunit", "cpsf 160 kda", "160 kda subunit", "cpsf 160 kda subunit", "factor 160", "specificity factor 160", "factor 160 kda", "polyadenylation specificity factor 160", "specificity factor 160 kda", "factor 160 kda subunit", "and polyadenylation specificity factor 160", "polyadenylation specificity factor 160 kda", "specificity factor 160 kda subunit", "specific", "160kda", "polyadenylation specific", "specific factor", "factor 1", "and polyadenylation specific", "polyadenylation specific factor", "specific factor 1", "1 160kda", "cleavage and polyadenylation specific", "and polyadenylation specific factor", "polyadenylation specific factor 1", "factor 1 160kda", "cleavage and polyadenylation specific factor", "and polyadenylation specific factor 1", "specific factor 1 160kda" ] }, { "record_id": "MONDO:0032942", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032942", "0032942", "mim:618828", "618828" ] }, { "record_id": "MONDO:0032942", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "and", "dysmorphic", "facies", "neurodevelopmental disorder", "disorder with", "with microcephaly", "microcephaly and", "and dysmorphic", "dysmorphic facies", "neurodevelopmental disorder with", "disorder with microcephaly", "with microcephaly and", "microcephaly and dysmorphic", "and dysmorphic facies", "neurodevelopmental disorder with microcephaly", "disorder with microcephaly and", "with microcephaly and dysmorphic", "microcephaly and dysmorphic facies", "neurodevelopmental disorder with microcephaly and", "disorder with microcephaly and dysmorphic", "with microcephaly and dysmorphic facies", "nabais", "sa", "de", "vries", "syndrome", "type", "nabais sa", "sa de", "de vries", "vries syndrome", "type 1", "nabais sa de", "sa de vries", "de vries syndrome", "syndrome type", "nabais sa de vries", "sa de vries syndrome", "vries syndrome type", "syndrome type 1", "nabais sa de vries syndrome", "de vries syndrome type", "vries syndrome type 1", "nedmidf", "syndrome 1", "vries syndrome 1", "de vries syndrome 1", "sa de vries syndrome 1" ] }, { "record_id": "MONDO:0032942", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032942", "record_type": "disease", "section": "proteins", "phraselist": [ "o43791", "o43791 1", "spop_human", "np_001007227", "glycoprotein", "spop", "btbd32", "nedmace", "nedmidf", "nsdvs1", "nsdvs2", "tef2" ] }, { "record_id": "MONDO:0032942", "record_type": "disease", "section": "proteins", "phraselist": [ "speckle", "type", "poz", "protein", "speckle type", "type poz", "poz protein", "speckle type poz", "type poz protein", "speckle type poz protein", "hib", "homolog", "hib homolog", "homolog 1", "hib homolog 1", "roadkill", "roadkill homolog", "roadkill homolog 1" ] }, { "record_id": "MONDO:0032943", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0032943", "0032943", "mim:618829", "618829" ] }, { "record_id": "MONDO:0032943", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "relative", "macrocephaly", "and", "or", "without", "cardiac", "endocrine", "anomalies", "neurodevelopmental disorder", "disorder with", "with relative", "relative macrocephaly", "macrocephaly and", "and with", "with or", "or without", "without cardiac", "cardiac or", "or endocrine", "endocrine anomalies", "neurodevelopmental disorder with", "disorder with relative", "with relative macrocephaly", "relative macrocephaly and", "macrocephaly and with", "and with or", "with or without", "or without cardiac", "without cardiac or", "cardiac or endocrine", "or endocrine anomalies", "neurodevelopmental disorder with relative", "disorder with relative macrocephaly", "with relative macrocephaly and", "relative macrocephaly and with", "macrocephaly and with or", "and with or without", "with or without cardiac", "or without cardiac or", "without cardiac or endocrine", "cardiac or endocrine anomalies", "neurodevelopmental disorder with relative macrocephaly", "disorder with relative macrocephaly and", "with relative macrocephaly and with", "relative macrocephaly and with or", "macrocephaly and with or without", "and with or without cardiac", "with or without cardiac or", "or without cardiac or endocrine", "without cardiac or endocrine anomalies", "nabais", "sa", "de", "vries", "syndrome", "type", "nabais sa", "sa de", "de vries", "vries syndrome", "type 2", "nabais sa de", "sa de vries", "de vries syndrome", "syndrome type", "nabais sa de vries", "sa de vries syndrome", "vries syndrome type", "syndrome type 2", "nabais sa de vries syndrome", "de vries syndrome type", "vries syndrome type 2", "nedmace", "syndrome 2", "vries syndrome 2", "de vries syndrome 2", "sa de vries syndrome 2" ] }, { "record_id": "MONDO:0032943", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0032943", "record_type": "disease", "section": "proteins", "phraselist": [ "o43791", "o43791 1", "spop_human", "np_001007227", "glycoprotein", "spop", "btbd32", "nedmace", "nedmidf", "nsdvs1", "nsdvs2", "tef2" ] }, { "record_id": "MONDO:0032943", "record_type": "disease", "section": "proteins", "phraselist": [ "speckle", "type", "poz", "protein", "speckle type", "type poz", "poz protein", "speckle type poz", "type poz protein", "speckle type poz protein", "hib", "homolog", "hib homolog", "homolog 1", "hib homolog 1", "roadkill", "roadkill homolog", "roadkill homolog 1" ] }, { "record_id": "MONDO:0033532", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033532", "0033532", "mim:618950", "618950" ] }, { "record_id": "MONDO:0033532", "record_type": "disease", "section": "disease_name", "phraselist": [ "suleiman", "el", "hattab", "syndrome", "suleiman el", "el hattab", "hattab syndrome", "suleiman el hattab", "el hattab syndrome", "suleiman el hattab syndrome", "sulehs" ] }, { "record_id": "MONDO:0033532", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033532", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h6p5", "q9h6p5 1", "tasp1_human", "np_060184", "glycoprotein", "tasp1", "c20orf13", "sulehs", "dj585i14.2" ] }, { "record_id": "MONDO:0033532", "record_type": "disease", "section": "proteins", "phraselist": [ "threonine", "aspartase", "threonine aspartase", "aspartase 1", "threonine aspartase 1", "3.4.25.", "taspase", "taspase 1", "isoform", "precursor", "1 isoform", "isoform 1", "1 precursor", "aspartase 1 isoform", "1 isoform 1", "isoform 1 precursor", "threonine aspartase 1 isoform", "aspartase 1 isoform 1", "1 isoform 1 precursor", "threonine aspartase 1 isoform 1", "aspartase 1 isoform 1 precursor" ] }, { "record_id": "MONDO:0033543", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033543", "0033543", "mim:618970", "618970" ] }, { "record_id": "MONDO:0033543", "record_type": "disease", "section": "disease_name", "phraselist": [ "cone", "rod", "synaptic", "disorder", "syndrome", "congenital", "nonprogressive", "cone rod", "rod synaptic", "synaptic disorder", "disorder syndrome", "congenital nonprogressive", "cone rod synaptic", "rod synaptic disorder", "synaptic disorder syndrome", "syndrome congenital", "cone rod synaptic disorder", "rod synaptic disorder syndrome", "disorder syndrome congenital", "syndrome congenital nonprogressive", "cone rod synaptic disorder syndrome", "synaptic disorder syndrome congenital", "disorder syndrome congenital nonprogressive", "crsds", "non", "progressive", "congenital non", "non progressive", "congenital non progressive", "syndrome congenital non", "disorder syndrome congenital non", "syndrome congenital non progressive" ] }, { "record_id": "MONDO:0033543", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033543", "record_type": "disease", "section": "proteins", "phraselist": [ "q9uq26", "q9uq26 6", "rims2_human", "np_001093587", "glycoprotein", "rims2", "crsds", "kiaa0751", "oboe", "rab3ip3", "rim2" ] }, { "record_id": "MONDO:0033543", "record_type": "disease", "section": "proteins", "phraselist": [ "regulating", "synaptic", "membrane", "exocytosis", "protein", "regulating synaptic", "synaptic membrane", "membrane exocytosis", "exocytosis protein", "protein 2", "regulating synaptic membrane", "synaptic membrane exocytosis", "membrane exocytosis protein", "exocytosis protein 2", "regulating synaptic membrane exocytosis", "synaptic membrane exocytosis protein", "membrane exocytosis protein 2", "regulating synaptic membrane exocytosis protein", "synaptic membrane exocytosis protein 2", "rab3", "interacting", "rab3 interacting", "interacting protein", "protein 3", "rab3 interacting protein", "interacting protein 3", "rab3 interacting protein 3", "rim", "rim 2", "rab", "molecule", "rab 3", "3 interacting", "interacting molecule", "molecule 2", "rab 3 interacting", "3 interacting molecule", "interacting molecule 2", "rab 3 interacting molecule", "3 interacting molecule 2", "rab 3 interacting molecule 2", "3 interacting protein", "rab 3 interacting protein", "3 interacting protein 3", "rab 3 interacting protein 3", "non", "small", "cell", "lung", "cancer", "riml3a", "non small", "small cell", "cell lung", "lung cancer", "cancer riml3a", "riml3a protein", "non small cell", "small cell lung", "cell lung cancer", "lung cancer riml3a", "cancer riml3a protein", "non small cell lung", "small cell lung cancer", "cell lung cancer riml3a", "lung cancer riml3a protein", "non small cell lung cancer", "small cell lung cancer riml3a", "cell lung cancer riml3a protein", "riml3c", "cancer riml3c", "riml3c protein", "lung cancer riml3c", "cancer riml3c protein", "cell lung cancer riml3c", "lung cancer riml3c protein", "small cell lung cancer riml3c", "cell lung cancer riml3c protein", "nuclear", "nuclear protein", "rab3 interacting molecule", "rab3 interacting molecule 2", "isoform", "2 isoform", "isoform a", "protein 2 isoform", "2 isoform a", "exocytosis protein 2 isoform", "protein 2 isoform a", "membrane exocytosis protein 2 isoform", "exocytosis protein 2 isoform a" ] }, { "record_id": "MONDO:0033544", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033544", "0033544", "mim:618971", "618971" ] }, { "record_id": "MONDO:0033544", "record_type": "disease", "section": "disease_name", "phraselist": [ "tolchin", "le", "caignec", "syndrome", "tolchin le", "le caignec", "caignec syndrome", "tolchin le caignec", "le caignec syndrome", "tolchin le caignec syndrome", "tolcas", "intellectual", "developmental", "disorder", "with", "behavioural", "abnormalities", "and", "variable", "bone", "defects", "intellectual developmental", "developmental disorder", "disorder with", "with behavioural", "behavioural abnormalities", "abnormalities and", "and variable", "variable bone", "bone defects", "intellectual developmental disorder", "developmental disorder with", "disorder with behavioural", "with behavioural abnormalities", "behavioural abnormalities and", "abnormalities and variable", "and variable bone", "variable bone defects", "intellectual developmental disorder with", "developmental disorder with behavioural", "disorder with behavioural abnormalities", "with behavioural abnormalities and", "behavioural abnormalities and variable", "abnormalities and variable bone", "and variable bone defects", "intellectual developmental disorder with behavioural", "developmental disorder with behavioural abnormalities", "disorder with behavioural abnormalities and", "with behavioural abnormalities and variable", "behavioural abnormalities and variable bone", "abnormalities and variable bone defects" ] }, { "record_id": "MONDO:0033544", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033544", "record_type": "disease", "section": "proteins", "phraselist": [ "p35712", "p35712 1", "sox6_human", "np_001139283", "glycoprotein", "sox6", "hssox6", "soxd", "tolcas" ] }, { "record_id": "MONDO:0033544", "record_type": "disease", "section": "proteins", "phraselist": [ "transcription", "factor", "sox", "transcription factor", "factor sox", "sox 6", "transcription factor sox", "factor sox 6", "transcription factor sox 6", "sry", "sex", "determining", "region", "box", "sex determining", "determining region", "region y", "box 6", "sry sex", "sex determining region", "determining region y", "y box", "sry sex determining", "sex determining region y", "region y box", "y box 6", "sry sex determining region", "determining region y box", "region y box 6", "sry box", "sry box 6", "containing", "gene", "box containing", "containing gene", "gene 6", "sry box containing", "box containing gene", "containing gene 6", "sry box containing gene", "box containing gene 6", "sry box containing gene 6", "isoform", "6 isoform", "isoform b", "sox 6 isoform", "6 isoform b", "factor sox 6 isoform", "sox 6 isoform b", "transcription factor sox 6 isoform", "factor sox 6 isoform b" ] }, { "record_id": "MONDO:0033546", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033546", "0033546", "mim:618973", "618973" ] }, { "record_id": "MONDO:0033546", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodegeneration", "infantile", "onset", "biotin", "responsive", "infantile onset", "biotin responsive", "neurodegeneration infantile", "onset biotin", "neurodegeneration infantile onset", "infantile onset biotin", "onset biotin responsive", "infantile onset biotin responsive", "nerib", "smvt", "deficiency", "smvt deficiency", "sodium", "dependent", "multivitamin", "transporter", "sodium dependent", "dependent multivitamin", "multivitamin transporter", "transporter deficiency", "sodium dependent multivitamin", "dependent multivitamin transporter", "multivitamin transporter deficiency", "sodium dependent multivitamin transporter", "dependent multivitamin transporter deficiency", "sodium dependent multivitamin transporter deficiency" ] }, { "record_id": "MONDO:0033546", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033546", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y289", "q9y289 1", "sc5a6_human", "np_066918", "glycoprotein", "slc5a6", "comnb", "nerib", "smvtd", "smvt", "hsmvt" ] }, { "record_id": "MONDO:0033546", "record_type": "disease", "section": "proteins", "phraselist": [ "sodium", "dependent", "multivitamin", "transporter", "sodium dependent", "dependent multivitamin", "multivitamin transporter", "sodium dependent multivitamin", "dependent multivitamin transporter", "sodium dependent multivitamin transporter", "na", "na +", "+ dependent", "na + dependent", "+ dependent multivitamin", "na + dependent multivitamin", "+ dependent multivitamin transporter", "na+", "na+ dependent", "na+ dependent multivitamin", "na+ dependent multivitamin transporter", "solute", "carrier", "family", "member", "solute carrier", "carrier family", "family 5", "5 member", "member 6", "solute carrier family", "carrier family 5", "family 5 member", "5 member 6", "solute carrier family 5", "carrier family 5 member", "family 5 member 6", "solute carrier family 5 member", "carrier family 5 member 6", "hsmvt", "vitamin", "dependent vitamin", "vitamin transporter", "5 sodium", "sodium dependent vitamin", "dependent vitamin transporter", "family 5 sodium", "5 sodium dependent", "sodium dependent vitamin transporter", "transporter member", "carrier family 5 sodium", "family 5 sodium dependent", "5 sodium dependent vitamin", "vitamin transporter member", "transporter member 6", "sodium/multivitamin", "and", "iodide", "cotransporter", "sodium/multivitamin and", "and iodide", "iodide cotransporter", "5 sodium/multivitamin", "sodium/multivitamin and iodide", "and iodide cotransporter", "family 5 sodium/multivitamin", "5 sodium/multivitamin and", "sodium/multivitamin and iodide cotransporter", "cotransporter member", "carrier family 5 sodium/multivitamin", "family 5 sodium/multivitamin and", "5 sodium/multivitamin and iodide", "iodide cotransporter member", "cotransporter member 6" ] }, { "record_id": "MONDO:0033547", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033547", "0033547", "mim:618974", "618974" ] }, { "record_id": "MONDO:0033547", "record_type": "disease", "section": "disease_name", "phraselist": [ "li", "ghorbani", "weisz", "hubshman", "syndrome", "li ghorbani", "ghorbani weisz", "weisz hubshman", "hubshman syndrome", "li ghorbani weisz", "ghorbani weisz hubshman", "weisz hubshman syndrome", "li ghorbani weisz hubshman", "ghorbani weisz hubshman syndrome", "li ghorbani weisz hubshman syndrome", "ghorgani", "li ghorgani", "ghorgani weisz", "li ghorgani weisz", "ghorgani weisz hubshman", "li ghorgani weisz hubshman", "ghorgani weisz hubshman syndrome", "li ghorgani weisz hubshman syndrome", "ligows" ] }, { "record_id": "MONDO:0033547", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033547", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h7z6", "q9h7z6 1", "kat8_human", "np_115564", "glycoprotein", "kat8", "ligows", "mof", "myst1", "pp7073", "zc2hc8", "hmof" ] }, { "record_id": "MONDO:0033547", "record_type": "disease", "section": "proteins", "phraselist": [ "histone", "acetyltransferase", "kat8", "histone acetyltransferase", "acetyltransferase kat8", "histone acetyltransferase kat8", "2.3.1.", "2.3.1.48", "lysine", "k lysine", "acetyltransferase 8", "lysine acetyltransferase", "k lysine acetyltransferase", "lysine acetyltransferase 8", "k lysine acetyltransferase 8", "moz", "ybf2/sas3", "sas2", "and", "tip60", "protein", "sas2 and", "and tip60", "tip60 protein", "protein 1", "moz ybf2/sas3", "ybf2/sas3 sas2", "sas2 and tip60", "and tip60 protein", "tip60 protein 1", "ybf2/sas3 sas2 and", "sas2 and tip60 protein", "and tip60 protein 1", "moz ybf2/sas3 sas2", "ybf2/sas3 sas2 and tip60", "sas2 and tip60 protein 1", "myst", "myst histone", "acetyltransferase 1", "myst histone acetyltransferase", "histone acetyltransferase 1", "myst histone acetyltransferase 1", "myst 1", "males", "absent", "on", "the", "first", "homolog", "males absent", "absent on", "on the", "the first", "first protein", "protein homolog", "males absent on", "absent on the", "on the first", "the first protein", "first protein homolog", "males absent on the", "absent on the first", "on the first protein", "the first protein homolog", "males absent on the first", "absent on the first protein", "on the first protein homolog", "protein acetyltransferase", "protein acetyltransferase kat8", "propionyltransferase", "protein propionyltransferase", "propionyltransferase kat8", "protein propionyltransferase kat8", "hmof", "isoform", "kat8 isoform", "isoform 1", "acetyltransferase kat8 isoform", "kat8 isoform 1", "histone acetyltransferase kat8 isoform", "acetyltransferase kat8 isoform 1", "histone acetyltransferase kat8 isoform 1", "myst1", "acetyltransferase myst1", "histone acetyltransferase myst1", "ortholog", "of", "drosophila", "mof", "ortholog of", "of drosophila", "drosophila males", "ortholog of drosophila", "of drosophila males", "drosophila males absent", "first mof", "ortholog of drosophila males", "of drosophila males absent", "drosophila males absent on", "the first mof", "ortholog of drosophila males absent", "of drosophila males absent on", "drosophila males absent on the", "on the first mof", "probable", "probable histone", "probable histone acetyltransferase", "probable histone acetyltransferase myst1" ] }, { "record_id": "MONDO:0033552", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033552", "0033552" ] }, { "record_id": "MONDO:0033552", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "lewis", "system", "obsolete blood", "blood group", "lewis system", "obsolete blood group", "group lewis", "blood group lewis", "group lewis system", "obsolete blood group lewis", "blood group lewis system", "le" ] }, { "record_id": "MONDO:0033552", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033552", "record_type": "disease", "section": "proteins", "phraselist": [ "p21217", "p21217 1", "fut3_human", "np_000140", "glycoprotein", "fut3", "cd174", "ft3b", "fuct", "iii", "fuct iii", "le", "les" ] }, { "record_id": "MONDO:0033552", "record_type": "disease", "section": "proteins", "phraselist": [ "galactosyl", "acetylglucosaminide", "alpha", "fucosyltransferase", "fut3", "3 galactosyl", "galactosyl n", "n acetylglucosaminide", "acetylglucosaminide 4", "4 alpha", "alpha l", "l fucosyltransferase", "fucosyltransferase fut3", "3 galactosyl n", "galactosyl n acetylglucosaminide", "n acetylglucosaminide 4", "acetylglucosaminide 4 alpha", "4 alpha l", "alpha l fucosyltransferase", "l fucosyltransferase fut3", "3 galactosyl n acetylglucosaminide", "galactosyl n acetylglucosaminide 4", "n acetylglucosaminide 4 alpha", "acetylglucosaminide 4 alpha l", "4 alpha l fucosyltransferase", "alpha l fucosyltransferase fut3", "3 galactosyl n acetylglucosaminide 4", "galactosyl n acetylglucosaminide 4 alpha", "n acetylglucosaminide 4 alpha l", "acetylglucosaminide 4 alpha l fucosyltransferase", "4 alpha l fucosyltransferase fut3", "2.4.1.", "2.4.1.152", "2.4.1.65", "fucosyltransferase 3", "l fucosyltransferase 3", "alpha l fucosyltransferase 3", "4 alpha l fucosyltransferase 3", "4 galactosyl", "acetylglucosaminide 3", "3 alpha", "4 galactosyl n", "n acetylglucosaminide 3", "acetylglucosaminide 3 alpha", "3 alpha l", "4 galactosyl n acetylglucosaminide", "galactosyl n acetylglucosaminide 3", "n acetylglucosaminide 3 alpha", "acetylglucosaminide 3 alpha l", "3 alpha l fucosyltransferase", "4 galactosyl n acetylglucosaminide 3", "galactosyl n acetylglucosaminide 3 alpha", "n acetylglucosaminide 3 alpha l", "acetylglucosaminide 3 alpha l fucosyltransferase", "alpha 3", "3 fucosyltransferase", "alpha 3 fucosyltransferase", "3 fucosyltransferase fut3", "alpha 3 fucosyltransferase fut3", "blood", "group", "lewis", "blood group", "group lewis", "lewis alpha", "alpha 4", "4 fucosyltransferase", "blood group lewis", "group lewis alpha", "lewis alpha 4", "alpha 4 fucosyltransferase", "blood group lewis alpha", "group lewis alpha 4", "lewis alpha 4 fucosyltransferase", "blood group lewis alpha 4", "group lewis alpha 4 fucosyltransferase", "fuct", "iii", "fuct iii", "fucosyltransferase iii", "ft", "lewis ft", "3/1", "1 3/1", "3/1 4", "alpha 1", "1 3/1 4", "alpha 1 3/1", "3/1 4 fucosyltransferase", "alpha 1 3/1 4", "1 3/1 4 fucosyltransferase", "galactoside", "galactoside 3", "3 4", "lewis blood", "3 galactoside", "galactoside 3 4", "4 l", "fucosyltransferase lewis", "lewis blood group", "fucosyltransferase 3 galactoside", "3 galactoside 3", "3 4 l", "4 l fucosyltransferase", "l fucosyltransferase lewis", "fucosyltransferase lewis blood", "fucosyltransferase 3 galactoside 3", "3 galactoside 3 4", "galactoside 3 4 l", "3 4 l fucosyltransferase", "l fucosyltransferase lewis blood", "fucosyltransferase lewis blood group" ] }, { "record_id": "MONDO:0033557", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033557", "0033557", "mim:618998", "618998" ] }, { "record_id": "MONDO:0033557", "record_type": "disease", "section": "disease_name", "phraselist": [ "hemophagocytic", "lymphohistiocytosis", "familial", "hemophagocytic lymphohistiocytosis", "lymphohistiocytosis familial", "familial 6", "hemophagocytic lymphohistiocytosis familial", "lymphohistiocytosis familial 6", "immune", "dysregulation", "and", "systemic", "hyperinflammation", "syndrome", "immune dysregulation", "dysregulation and", "and systemic", "systemic hyperinflammation", "hyperinflammation syndrome", "immune dysregulation and", "dysregulation and systemic", "and systemic hyperinflammation", "systemic hyperinflammation syndrome", "immune dysregulation and systemic", "dysregulation and systemic hyperinflammation", "and systemic hyperinflammation syndrome", "immune dysregulation and systemic hyperinflammation", "dysregulation and systemic hyperinflammation syndrome", "fhl6" ] }, { "record_id": "MONDO:0033557", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033557", "record_type": "disease", "section": "proteins", "phraselist": [ "q5tc82", "q5tc82 1", "rc3h1_human", "np_001287779", "glycoprotein", "rc3h1", "fhl6", "imdshy", "kiaa2025", "rnf198", "roquin" ] }, { "record_id": "MONDO:0033557", "record_type": "disease", "section": "proteins", "phraselist": [ "roquin", "roquin 1", "2.3.2.27", "ring", "finger", "and", "c3h", "zinc", "protein", "ring finger", "finger and", "and c3h", "c3h zinc", "zinc finger", "finger protein", "protein 1", "ring finger and", "finger and c3h", "and c3h zinc", "c3h zinc finger", "zinc finger protein", "finger protein 1", "ring finger and c3h", "finger and c3h zinc", "and c3h zinc finger", "c3h zinc finger protein", "zinc finger protein 1", "ring finger and c3h zinc", "finger and c3h zinc finger", "and c3h zinc finger protein", "c3h zinc finger protein 1", "ccch", "type", "domain", "containing", "and ccch", "ccch type", "type zinc", "finger domain", "domain containing", "containing protein", "finger and ccch", "and ccch type", "ccch type zinc", "type zinc finger", "zinc finger domain", "finger domain containing", "domain containing protein", "containing protein 1", "ring finger and ccch", "finger and ccch type", "and ccch type zinc", "ccch type zinc finger", "type zinc finger domain", "zinc finger domain containing", "finger domain containing protein", "domain containing protein 1", "ring finger and ccch type", "finger and ccch type zinc", "and ccch type zinc finger", "ccch type zinc finger domain", "type zinc finger domain containing", "zinc finger domain containing protein", "finger domain containing protein 1", "198", "protein 198", "ring finger protein", "finger protein 198", "ring finger protein 198", "probable", "e3", "ubiquitin", "ligase", "probable e3", "e3 ubiquitin", "ubiquitin protein", "protein ligase", "ligase roquin", "probable e3 ubiquitin", "e3 ubiquitin protein", "ubiquitin protein ligase", "protein ligase roquin", "probable e3 ubiquitin protein", "e3 ubiquitin protein ligase", "ubiquitin protein ligase roquin", "probable e3 ubiquitin protein ligase", "e3 ubiquitin protein ligase roquin", "isoform", "1 isoform", "isoform a", "roquin 1 isoform", "1 isoform a", "roquin 1 isoform a" ] }, { "record_id": "MONDO:0033558", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033558", "0033558", "mim:618999", "618999" ] }, { "record_id": "MONDO:0033558", "record_type": "disease", "section": "disease_name", "phraselist": [ "autoinflammation", "immune", "dysregulation", "and", "eosinophilia", "immune dysregulation", "and eosinophilia", "autoinflammation immune", "dysregulation and", "autoinflammation immune dysregulation", "immune dysregulation and", "dysregulation and eosinophilia", "immune dysregulation and eosinophilia", "aiide" ] }, { "record_id": "MONDO:0033558", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033558", "record_type": "disease", "section": "proteins", "phraselist": [ "p23458", "p23458 1", "jak1_human", "np_001307852", "glycoprotein", "jak1", "aiide", "jak1a", "jak1b", "jtk3" ] }, { "record_id": "MONDO:0033558", "record_type": "disease", "section": "proteins", "phraselist": [ "tyrosine", "protein", "kinase", "jak1", "tyrosine protein", "protein kinase", "kinase jak1", "tyrosine protein kinase", "protein kinase jak1", "tyrosine protein kinase jak1", "2.7.10.2", "jak", "jak 1", "janus", "janus kinase", "kinase 1", "janus kinase 1", "isoform", "jak1 isoform", "isoform 1", "kinase jak1 isoform", "jak1 isoform 1", "protein kinase jak1 isoform", "kinase jak1 isoform 1", "tyrosine protein kinase jak1 isoform", "protein kinase jak1 isoform 1" ] }, { "record_id": "MONDO:0033559", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033559", "0033559", "mim:619000", "619000" ] }, { "record_id": "MONDO:0033559", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "seizures", "and", "language", "delay", "intellectual developmental", "developmental disorder", "disorder with", "with seizures", "seizures and", "and language", "language delay", "intellectual developmental disorder", "developmental disorder with", "disorder with seizures", "with seizures and", "seizures and language", "and language delay", "intellectual developmental disorder with", "developmental disorder with seizures", "disorder with seizures and", "with seizures and language", "seizures and language delay", "intellectual developmental disorder with seizures", "developmental disorder with seizures and", "disorder with seizures and language", "with seizures and language delay", "setd1b", "ndd", "setd1b ndd", "related", "neurodevelopmental", "setd1b related", "related neurodevelopmental", "neurodevelopmental disorder", "setd1b related neurodevelopmental", "related neurodevelopmental disorder", "setd1b related neurodevelopmental disorder", "iddseld" ] }, { "record_id": "MONDO:0033559", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033559", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ups6", "q9ups6 1", "set1b_human", "np_001340274", "glycoprotein", "setd1b", "iddseld", "kiaa1076", "kmt2g", "set1b" ] }, { "record_id": "MONDO:0033559", "record_type": "disease", "section": "proteins", "phraselist": [ "histone", "lysine", "methyltransferase", "setd1b", "histone lysine", "lysine n", "n methyltransferase", "methyltransferase setd1b", "histone lysine n", "lysine n methyltransferase", "n methyltransferase setd1b", "histone lysine n methyltransferase", "lysine n methyltransferase setd1b", "histone lysine n methyltransferase setd1b", "2.1.1.364", "2g", "methyltransferase 2g", "n methyltransferase 2g", "lysine n methyltransferase 2g", "set", "domain", "containing", "protein", "1b", "set domain", "domain containing", "containing protein", "protein 1b", "set domain containing", "domain containing protein", "containing protein 1b", "set domain containing protein", "domain containing protein 1b", "set domain containing protein 1b", "hset1b" ] }, { "record_id": "MONDO:0033561", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033561", "0033561", "mim:619004", "619004" ] }, { "record_id": "MONDO:0033561", "record_type": "disease", "section": "disease_name", "phraselist": [ "deeah", "syndrome", "deeah syndrome" ] }, { "record_id": "MONDO:0033561", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033561", "record_type": "disease", "section": "proteins", "phraselist": [ "q8wxg6", "q8wxg6 1", "madd_human", "np_569826", "glycoprotein", "madd", "deeah", "denn", "ig20", "kiaa0358", "neddish", "rab3gep", "rabgef" ] }, { "record_id": "MONDO:0033561", "record_type": "disease", "section": "proteins", "phraselist": [ "map", "kinase", "activating", "death", "domain", "protein", "map kinase", "kinase activating", "activating death", "death domain", "domain protein", "map kinase activating", "kinase activating death", "activating death domain", "death domain protein", "map kinase activating death", "kinase activating death domain", "activating death domain protein", "map kinase activating death domain", "kinase activating death domain protein", "differentially", "expressed", "in", "normal", "and", "neoplastic", "cells", "differentially expressed", "expressed in", "in normal", "normal and", "and neoplastic", "neoplastic cells", "differentially expressed in", "expressed in normal", "in normal and", "normal and neoplastic", "and neoplastic cells", "differentially expressed in normal", "expressed in normal and", "in normal and neoplastic", "normal and neoplastic cells", "differentially expressed in normal and", "expressed in normal and neoplastic", "in normal and neoplastic cells", "insulinoma", "glucagonoma", "clone", "20", "insulinoma glucagonoma", "glucagonoma clone", "clone 20", "insulinoma glucagonoma clone", "glucagonoma clone 20", "insulinoma glucagonoma clone 20", "insuloma", "insuloma glucagonoma", "glucagonoma protein", "protein 20", "insuloma glucagonoma protein", "glucagonoma protein 20", "insuloma glucagonoma protein 20", "isoform", "protein isoform", "isoform 1", "domain protein isoform", "protein isoform 1", "death domain protein isoform", "domain protein isoform 1", "activating death domain protein isoform", "death domain protein isoform 1", "rab3", "gdp/gtp", "exchange", "factor", "rab3 gdp/gtp", "gdp/gtp exchange", "exchange factor", "rab3 gdp/gtp exchange", "gdp/gtp exchange factor", "rab3 gdp/gtp exchange factor", "exchange protein", "gdp/gtp exchange protein", "rab3 gdp/gtp exchange protein", "rab3gep", "rabgef" ] }, { "record_id": "MONDO:0033562", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033562", "0033562", "mim:619005", "619005" ] }, { "record_id": "MONDO:0033562", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "dysmorphic", "facies", "impaired", "speech", "and", "hypotonia", "neurodevelopmental disorder", "disorder with", "with dysmorphic", "dysmorphic facies", "impaired speech", "and hypotonia", "neurodevelopmental disorder with", "disorder with dysmorphic", "with dysmorphic facies", "facies impaired", "speech and", "neurodevelopmental disorder with dysmorphic", "disorder with dysmorphic facies", "dysmorphic facies impaired", "facies impaired speech", "impaired speech and", "speech and hypotonia", "neurodevelopmental disorder with dysmorphic facies", "with dysmorphic facies impaired", "dysmorphic facies impaired speech", "impaired speech and hypotonia", "facies impaired speech and", "neddish" ] }, { "record_id": "MONDO:0033562", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033562", "record_type": "disease", "section": "proteins", "phraselist": [ "q8wxg6", "q8wxg6 1", "madd_human", "np_569826", "glycoprotein", "madd", "deeah", "denn", "ig20", "kiaa0358", "neddish", "rab3gep", "rabgef" ] }, { "record_id": "MONDO:0033562", "record_type": "disease", "section": "proteins", "phraselist": [ "map", "kinase", "activating", "death", "domain", "protein", "map kinase", "kinase activating", "activating death", "death domain", "domain protein", "map kinase activating", "kinase activating death", "activating death domain", "death domain protein", "map kinase activating death", "kinase activating death domain", "activating death domain protein", "map kinase activating death domain", "kinase activating death domain protein", "differentially", "expressed", "in", "normal", "and", "neoplastic", "cells", "differentially expressed", "expressed in", "in normal", "normal and", "and neoplastic", "neoplastic cells", "differentially expressed in", "expressed in normal", "in normal and", "normal and neoplastic", "and neoplastic cells", "differentially expressed in normal", "expressed in normal and", "in normal and neoplastic", "normal and neoplastic cells", "differentially expressed in normal and", "expressed in normal and neoplastic", "in normal and neoplastic cells", "insulinoma", "glucagonoma", "clone", "20", "insulinoma glucagonoma", "glucagonoma clone", "clone 20", "insulinoma glucagonoma clone", "glucagonoma clone 20", "insulinoma glucagonoma clone 20", "insuloma", "insuloma glucagonoma", "glucagonoma protein", "protein 20", "insuloma glucagonoma protein", "glucagonoma protein 20", "insuloma glucagonoma protein 20", "isoform", "protein isoform", "isoform 1", "domain protein isoform", "protein isoform 1", "death domain protein isoform", "domain protein isoform 1", "activating death domain protein isoform", "death domain protein isoform 1", "rab3", "gdp/gtp", "exchange", "factor", "rab3 gdp/gtp", "gdp/gtp exchange", "exchange factor", "rab3 gdp/gtp exchange", "gdp/gtp exchange factor", "rab3 gdp/gtp exchange factor", "exchange protein", "gdp/gtp exchange protein", "rab3 gdp/gtp exchange protein", "rab3gep", "rabgef" ] }, { "record_id": "MONDO:0033564", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033564", "0033564", "mim:619009", "619009" ] }, { "record_id": "MONDO:0033564", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte", "maturation", "defect", "oocyte maturation", "maturation defect", "defect 8", "oocyte maturation defect", "maturation defect 8", "oocyte maturation defect 8", "oomd8", "oocyte/zygote/embryo", "arrest", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 8", "oocyte/zygote/embryo maturation arrest", "maturation arrest 8", "oocyte/zygote/embryo maturation arrest 8" ] }, { "record_id": "MONDO:0033564", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033564", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ny30", "q9ny30 1", "btg4_human", "np_060059", "glycoprotein", "btg4", "apro3", "oomd8", "ozema8", "pc3b" ] }, { "record_id": "MONDO:0033564", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "btg4", "protein btg4", "cell", "translocation", "gene", "b cell", "cell translocation", "translocation gene", "gene 4", "b cell translocation", "cell translocation gene", "translocation gene 4", "b cell translocation gene", "cell translocation gene 4", "b cell translocation gene 4", "btg", "family", "member", "btg family", "family member", "member 4", "btg family member", "family member 4", "btg family member 4", "pc3b", "protein pc3b", "isoform", "btg4 isoform", "isoform 1", "protein btg4 isoform", "btg4 isoform 1", "protein btg4 isoform 1" ] }, { "record_id": "MONDO:0033565", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033565", "0033565", "mim:619011", "619011" ] }, { "record_id": "MONDO:0033565", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte", "maturation", "defect", "oocyte maturation", "maturation defect", "defect 9", "oocyte maturation defect", "maturation defect 9", "oocyte maturation defect 9", "oomd9", "oocyte/zygote/embryo", "arrest", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 9", "oocyte/zygote/embryo maturation arrest", "maturation arrest 9", "oocyte/zygote/embryo maturation arrest 9" ] }, { "record_id": "MONDO:0033565", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033565", "record_type": "disease", "section": "proteins", "phraselist": [ "q15645", "q15645 1", "pch2_human", "np_004228", "glycoprotein", "trip13", "16e1bp", "mva3", "oomd9", "ozema9", "pch2" ] }, { "record_id": "MONDO:0033565", "record_type": "disease", "section": "proteins", "phraselist": [ "pachytene", "checkpoint", "protein", "homolog", "pachytene checkpoint", "checkpoint protein", "protein 2", "2 homolog", "pachytene checkpoint protein", "checkpoint protein 2", "protein 2 homolog", "pachytene checkpoint protein 2", "checkpoint protein 2 homolog", "pachytene checkpoint protein 2 homolog", "16e1", "bp", "16e1 bp", "hpv16", "e1", "binding", "hpv16 e1", "e1 protein", "protein binding", "binding protein", "hpv16 e1 protein", "e1 protein binding", "protein binding protein", "hpv16 e1 protein binding", "e1 protein binding protein", "hpv16 e1 protein binding protein", "human", "papillomavirus", "type", "16", "human papillomavirus", "papillomavirus type", "type 16", "16 e1", "human papillomavirus type", "papillomavirus type 16", "type 16 e1", "16 e1 protein", "human papillomavirus type 16", "papillomavirus type 16 e1", "type 16 e1 protein", "16 e1 protein binding", "human papillomavirus type 16 e1", "papillomavirus type 16 e1 protein", "type 16 e1 protein binding", "16 e1 protein binding protein", "sh3tc1/trip13", "fusion", "sh3tc1/trip13 fusion", "tr", "interacting", "13", "tr interacting", "interacting protein", "protein 13", "tr interacting protein", "interacting protein 13", "tr interacting protein 13", "trip", "trip 13", "thyroid", "hormone", "receptor", "interactor", "thyroid hormone", "hormone receptor", "receptor interactor", "interactor 13", "thyroid hormone receptor", "hormone receptor interactor", "receptor interactor 13", "thyroid hormone receptor interactor", "hormone receptor interactor 13", "thyroid hormone receptor interactor 13", "thyroid receptor", "receptor interacting", "thyroid receptor interacting", "receptor interacting protein", "thyroid receptor interacting protein", "receptor interacting protein 13", "thyroid receptor interacting protein 13", "isoform", "homolog isoform", "isoform 1", "2 homolog isoform", "homolog isoform 1", "protein 2 homolog isoform", "2 homolog isoform 1", "checkpoint protein 2 homolog isoform", "protein 2 homolog isoform 1" ] }, { "record_id": "MONDO:0033571", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033571", "0033571" ] }, { "record_id": "MONDO:0033571", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "skeletal", "muscle", "glycogen", "content", "and", "metabolism", "quantitative", "trait", "locus", "obsolete skeletal", "skeletal muscle", "muscle glycogen", "glycogen content", "content and", "and metabolism", "metabolism quantitative", "quantitative trait", "trait locus", "obsolete skeletal muscle", "skeletal muscle glycogen", "muscle glycogen content", "glycogen content and", "content and metabolism", "and metabolism quantitative", "metabolism quantitative trait", "quantitative trait locus", "obsolete skeletal muscle glycogen", "skeletal muscle glycogen content", "muscle glycogen content and", "glycogen content and metabolism", "content and metabolism quantitative", "and metabolism quantitative trait", "metabolism quantitative trait locus", "obsolete skeletal muscle glycogen content", "skeletal muscle glycogen content and", "muscle glycogen content and metabolism", "glycogen content and metabolism quantitative", "content and metabolism quantitative trait", "and metabolism quantitative trait locus", "qtl", "metabolism qtl", "and metabolism qtl", "content and metabolism qtl", "glycogen content and metabolism qtl", "smgmqtl" ] }, { "record_id": "MONDO:0033571", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033571", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ugi9", "q9ugi9 1", "aakg3_human", "np_059127", "glycoprotein", "prkag3", "ampkg3", "smgmqtl" ] }, { "record_id": "MONDO:0033571", "record_type": "disease", "section": "proteins", "phraselist": [ "5'", "amp", "activated", "protein", "kinase", "subunit", "gamma", "5' amp", "amp activated", "activated protein", "protein kinase", "kinase subunit", "subunit gamma", "gamma 3", "5' amp activated", "amp activated protein", "activated protein kinase", "protein kinase subunit", "kinase subunit gamma", "subunit gamma 3", "5' amp activated protein", "amp activated protein kinase", "activated protein kinase subunit", "protein kinase subunit gamma", "kinase subunit gamma 3", "5' amp activated protein kinase", "amp activated protein kinase subunit", "activated protein kinase subunit gamma", "protein kinase subunit gamma 3", "3 subunit", "kinase gamma", "gamma 3 subunit", "protein kinase gamma", "kinase gamma 3", "activated protein kinase gamma", "protein kinase gamma 3", "kinase gamma 3 subunit", "ampk", "chain", "ampk gamma", "3 chain", "ampk gamma 3", "gamma 3 chain", "ampk gamma 3 chain", "gamma3", "ampk gamma3", "ampk subunit", "ampk subunit gamma", "ampk subunit gamma 3", "non", "catalytic", "3 non", "non catalytic", "catalytic subunit", "kinase amp", "activated gamma", "gamma 3 non", "3 non catalytic", "non catalytic subunit", "protein kinase amp", "kinase amp activated", "amp activated gamma", "activated gamma 3", "gamma 3 non catalytic", "3 non catalytic subunit", "protein kinase amp activated", "amp activated gamma 3", "activated gamma 3 non", "gamma 3 non catalytic subunit" ] }, { "record_id": "MONDO:0033572", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033572", "0033572", "mim:619031", "619031" ] }, { "record_id": "MONDO:0033572", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "epilepsy", "behavioral", "abnormalities", "and", "coarse", "facies", "intellectual developmental", "developmental disorder", "disorder with", "with epilepsy", "behavioral abnormalities", "and coarse", "coarse facies", "intellectual developmental disorder", "developmental disorder with", "disorder with epilepsy", "epilepsy behavioral", "abnormalities and", "and coarse facies", "intellectual developmental disorder with", "developmental disorder with epilepsy", "with epilepsy behavioral", "epilepsy behavioral abnormalities", "behavioral abnormalities and", "abnormalities and coarse", "intellectual developmental disorder with epilepsy", "disorder with epilepsy behavioral", "with epilepsy behavioral abnormalities", "behavioral abnormalities and coarse", "abnormalities and coarse facies", "iddebf" ] }, { "record_id": "MONDO:0033572", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033572", "record_type": "disease", "section": "proteins", "phraselist": [ "q96f25", "q96f25 1", "alg14_human", "np_001292171", "glycoprotein", "alg14", "cms15", "iddebf", "mepca" ] }, { "record_id": "MONDO:0033572", "record_type": "disease", "section": "proteins", "phraselist": [ "udp", "acetylglucosamine", "transferase", "subunit", "alg14", "udp n", "n acetylglucosamine", "acetylglucosamine transferase", "transferase subunit", "subunit alg14", "udp n acetylglucosamine", "n acetylglucosamine transferase", "acetylglucosamine transferase subunit", "transferase subunit alg14", "udp n acetylglucosamine transferase", "n acetylglucosamine transferase subunit", "acetylglucosamine transferase subunit alg14", "udp n acetylglucosamine transferase subunit", "n acetylglucosamine transferase subunit alg14", "asparagine", "linked", "glycosylation", "14", "homolog", "asparagine linked", "linked glycosylation", "glycosylation 14", "14 homolog", "asparagine linked glycosylation", "linked glycosylation 14", "glycosylation 14 homolog", "asparagine linked glycosylation 14", "linked glycosylation 14 homolog", "asparagine linked glycosylation 14 homolog", "alg14 homolog", "subunit alg14 homolog", "transferase subunit alg14 homolog", "acetylglucosamine transferase subunit alg14 homolog", "isoform", "alg14 isoform", "isoform 2", "subunit alg14 isoform", "alg14 isoform 2", "transferase subunit alg14 isoform", "subunit alg14 isoform 2", "acetylglucosamine transferase subunit alg14 isoform", "transferase subunit alg14 isoform 2" ] }, { "record_id": "MONDO:0033613", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033613", "0033613", "mim:619026", "619026" ] }, { "record_id": "MONDO:0033613", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "progressive", "spasticity", "and", "brain", "white", "matter", "abnormalities", "neurodevelopmental disorder", "disorder with", "with progressive", "progressive spasticity", "spasticity and", "and brain", "brain white", "white matter", "matter abnormalities", "neurodevelopmental disorder with", "disorder with progressive", "with progressive spasticity", "progressive spasticity and", "spasticity and brain", "and brain white", "brain white matter", "white matter abnormalities", "neurodevelopmental disorder with progressive", "disorder with progressive spasticity", "with progressive spasticity and", "progressive spasticity and brain", "spasticity and brain white", "and brain white matter", "brain white matter abnormalities", "neurodevelopmental disorder with progressive spasticity", "disorder with progressive spasticity and", "with progressive spasticity and brain", "progressive spasticity and brain white", "spasticity and brain white matter", "and brain white matter abnormalities", "nedswma", "cerebral", "palsy", "spastic", "quadriplegic", "cerebral palsy", "spastic quadriplegic", "palsy spastic", "quadriplegic 1", "cerebral palsy spastic", "palsy spastic quadriplegic", "spastic quadriplegic 1", "cerebral palsy spastic quadriplegic", "type", "type 1", "quadriplegic type", "spastic quadriplegic type", "quadriplegic type 1", "spastic quadriplegic type 1", "infantile", "neurodegeneration", "intellectual", "disability", "lesions", "syndrome", "infantile neurodegeneration", "neurodegeneration progressive", "spasticity intellectual", "intellectual disability", "disability white", "matter lesions", "lesions syndrome", "infantile neurodegeneration progressive", "neurodegeneration progressive spasticity", "progressive spasticity intellectual", "spasticity intellectual disability", "intellectual disability white", "disability white matter", "white matter lesions", "matter lesions syndrome", "infantile neurodegeneration progressive spasticity", "neurodegeneration progressive spasticity intellectual", "progressive spasticity intellectual disability", "spasticity intellectual disability white", "intellectual disability white matter", "disability white matter lesions", "white matter lesions syndrome", "infantile neurodegeneration progressive spasticity intellectual", "neurodegeneration progressive spasticity intellectual disability", "progressive spasticity intellectual disability white", "spasticity intellectual disability white matter", "intellectual disability white matter lesions", "disability white matter lesions syndrome", "cpsq1" ] }, { "record_id": "MONDO:0033613", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033613", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033613", "record_type": "disease", "section": "proteins", "phraselist": [ "q96ir7", "q96ir7 1", "hpdl_human", "np_116145", "glycoprotein", "hpdl", "hppd", "4 hppd", "hppd l", "4 hppd l", "gloxd1", "nedswma", "spg83", "q99259", "q99259 1", "dce1_human", "np_000808", "gad1", "cpsq1", "dee89", "gad", "67", "gad 67", "gad67", "scp" ] }, { "record_id": "MONDO:0033613", "record_type": "disease", "section": "proteins", "phraselist": [ "hydroxyphenylpyruvate", "dioxygenase", "like", "protein", "4 hydroxyphenylpyruvate", "hydroxyphenylpyruvate dioxygenase", "dioxygenase like", "like protein", "4 hydroxyphenylpyruvate dioxygenase", "hydroxyphenylpyruvate dioxygenase like", "dioxygenase like protein", "4 hydroxyphenylpyruvate dioxygenase like", "hydroxyphenylpyruvate dioxygenase like protein", "4 hydroxyphenylpyruvate dioxygenase like protein", "1.13.11.46", "glyoxalase", "domain", "containing", "glyoxalase domain", "domain containing", "containing protein", "protein 1", "glyoxalase domain containing", "domain containing protein", "containing protein 1", "glyoxalase domain containing protein", "domain containing protein 1", "glyoxalase domain containing protein 1", "hpd", "hpd like", "hpd like protein", "hpdl", "glutamate", "decarboxylase", "glutamate decarboxylase", "decarboxylase 1", "glutamate decarboxylase 1", "4.1.1.15", "67", "kda", "glutamic", "acid", "67 kda", "kda glutamic", "glutamic acid", "acid decarboxylase", "67 kda glutamic", "kda glutamic acid", "glutamic acid decarboxylase", "67 kda glutamic acid", "kda glutamic acid decarboxylase", "67 kda glutamic acid decarboxylase", "gad", "gad 67", "isoform", "decarboxylase 67", "kda isoform", "glutamate decarboxylase 67", "decarboxylase 67 kda", "67 kda isoform", "glutamate decarboxylase 67 kda", "decarboxylase 67 kda isoform", "glutamate decarboxylase 67 kda isoform", "brain", "67kda", "1 brain", "brain 67kda", "decarboxylase 1 brain", "glutamate decarboxylase 1 brain", "1 brain 67kda", "gad67", "1 isoform", "isoform gad67", "decarboxylase 1 isoform", "1 isoform gad67", "glutamate decarboxylase 1 isoform", "decarboxylase 1 isoform gad67", "glutamate decarboxylase 1 isoform gad67" ] }, { "record_id": "MONDO:0033619", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033619", "0033619", "mim:619036", "619036" ] }, { "record_id": "MONDO:0033619", "record_type": "disease", "section": "disease_name", "phraselist": [ "myopathy", "epilepsy", "and", "progressive", "cerebral", "atrophy", "and progressive", "progressive cerebral", "cerebral atrophy", "myopathy epilepsy", "epilepsy and", "and progressive cerebral", "progressive cerebral atrophy", "epilepsy and progressive", "and progressive cerebral atrophy", "myopathy epilepsy and", "epilepsy and progressive cerebral", "mepca" ] }, { "record_id": "MONDO:0033619", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033619", "record_type": "disease", "section": "proteins", "phraselist": [ "q96f25", "q96f25 1", "alg14_human", "np_001292171", "glycoprotein", "alg14", "cms15", "iddebf", "mepca" ] }, { "record_id": "MONDO:0033619", "record_type": "disease", "section": "proteins", "phraselist": [ "udp", "acetylglucosamine", "transferase", "subunit", "alg14", "udp n", "n acetylglucosamine", "acetylglucosamine transferase", "transferase subunit", "subunit alg14", "udp n acetylglucosamine", "n acetylglucosamine transferase", "acetylglucosamine transferase subunit", "transferase subunit alg14", "udp n acetylglucosamine transferase", "n acetylglucosamine transferase subunit", "acetylglucosamine transferase subunit alg14", "udp n acetylglucosamine transferase subunit", "n acetylglucosamine transferase subunit alg14", "asparagine", "linked", "glycosylation", "14", "homolog", "asparagine linked", "linked glycosylation", "glycosylation 14", "14 homolog", "asparagine linked glycosylation", "linked glycosylation 14", "glycosylation 14 homolog", "asparagine linked glycosylation 14", "linked glycosylation 14 homolog", "asparagine linked glycosylation 14 homolog", "alg14 homolog", "subunit alg14 homolog", "transferase subunit alg14 homolog", "acetylglucosamine transferase subunit alg14 homolog", "isoform", "alg14 isoform", "isoform 2", "subunit alg14 isoform", "alg14 isoform 2", "transferase subunit alg14 isoform", "subunit alg14 isoform 2", "acetylglucosamine transferase subunit alg14 isoform", "transferase subunit alg14 isoform 2" ] }, { "record_id": "MONDO:0033621", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033621", "0033621", "mim:619042", "619042" ] }, { "record_id": "MONDO:0033621", "record_type": "disease", "section": "disease_name", "phraselist": [ "spinal", "muscular", "atrophy", "infantile", "james", "type", "spinal muscular", "muscular atrophy", "james type", "spinal muscular atrophy", "atrophy infantile", "infantile james", "muscular atrophy infantile", "infantile james type", "spinal muscular atrophy infantile", "atrophy infantile james", "smaji" ] }, { "record_id": "MONDO:0033621", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033621", "record_type": "disease", "section": "proteins", "phraselist": [ "p41250", "p41250 1", "gars_human", "np_001303701", "glycoprotein", "gars1", "cmt2d", "dsmav", "gars", "glyrs", "hmn5a", "hmn5", "hmnd5", "smad1", "smaji" ] }, { "record_id": "MONDO:0033621", "record_type": "disease", "section": "proteins", "phraselist": [ "glycine", "trna", "ligase", "trna ligase", "glycine trna", "glycine trna ligase", "2.7.7.", "6.1.1.14", "ap", "synthetase", "ap 4", "4 a", "a synthetase", "ap 4 a", "4 a synthetase", "ap 4 a synthetase", "ap4a", "ap4a synthetase", "charcot", "marie", "tooth", "neuropathy", "2d", "charcot marie", "marie tooth", "tooth neuropathy", "neuropathy 2d", "charcot marie tooth", "marie tooth neuropathy", "tooth neuropathy 2d", "charcot marie tooth neuropathy", "marie tooth neuropathy 2d", "charcot marie tooth neuropathy 2d", "neuronal", "type", "neuronal type", "neuropathy neuronal", "type d", "tooth neuropathy neuronal", "neuropathy neuronal type", "neuronal type d", "marie tooth neuropathy neuronal", "tooth neuropathy neuronal type", "diadenosine", "tetraphosphate", "diadenosine tetraphosphate", "tetraphosphate synthetase", "diadenosine tetraphosphate synthetase", "glyrs", "glycyl", "glycyl trna", "trna synthetase", "synthetase 1", "glycyl trna synthetase", "trna synthetase 1", "glycyl trna synthetase 1", "isoform", "ligase isoform", "isoform 2", "trna ligase isoform", "ligase isoform 2", "trna ligase isoform 2", "glycine trna ligase isoform" ] }, { "record_id": "MONDO:0033640", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033640", "0033640", "mim:619073", "619073" ] }, { "record_id": "MONDO:0033640", "record_type": "disease", "section": "disease_name", "phraselist": [ "vitamin", "dependent", "rickets", "type", "vitamin d", "d dependent", "dependent rickets", "type 3", "vitamin d dependent", "d dependent rickets", "rickets type", "vitamin d dependent rickets", "dependent rickets type", "rickets type 3", "d dependent rickets type", "dependent rickets type 3", "vddr3", "rickets 3", "dependent rickets 3", "d dependent rickets 3", "vitamin d dependent rickets 3" ] }, { "record_id": "MONDO:0033640", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033640", "record_type": "disease", "section": "proteins", "phraselist": [ "p08684", "p08684 1", "cp3a4_human", "np_001189784", "glycoprotein", "cyp3a4", "cp33", "cp34", "cyp3a3", "cyp3a", "cypiiia3", "cypiiia4", "hlp", "nf", "25", "nf 25", "p450c3", "p450pcn1", "vddr3" ] }, { "record_id": "MONDO:0033640", "record_type": "disease", "section": "proteins", "phraselist": [ "cytochrome", "p450", "3a4", "cytochrome p450", "p450 3a4", "cytochrome p450 3a4", "cineole", "exo", "monooxygenase", "1 4", "4 cineole", "cineole 2", "2 exo", "exo monooxygenase", "1 4 cineole", "4 cineole 2", "cineole 2 exo", "2 exo monooxygenase", "1 4 cineole 2", "4 cineole 2 exo", "cineole 2 exo monooxygenase", "1 4 cineole 2 exo", "4 cineole 2 exo monooxygenase", "1 8", "8 cineole", "1 8 cineole", "8 cineole 2", "1 8 cineole 2", "8 cineole 2 exo", "1 8 cineole 2 exo", "8 cineole 2 exo monooxygenase", "1.14.14.1", "1.14.14.55", "1.14.14.56", "1.14.14.73", "albendazole", "sulfoxide", "forming", "albendazole monooxygenase", "sulfoxide forming", "monooxygenase sulfoxide", "albendazole monooxygenase sulfoxide", "monooxygenase sulfoxide forming", "albendazole monooxygenase sulfoxide forming", "sulfoxidase", "albendazole sulfoxidase", "cypiiia3", "cypiiia4", "cholesterol", "25", "hydroxylase", "cholesterol 25", "25 hydroxylase", "cholesterol 25 hydroxylase", "3a3", "p450 3a3", "cytochrome p450 3a3", "hlp", "p450 hlp", "cytochrome p450 hlp", "nf", "p450 nf", "nf 25", "cytochrome p450 nf", "p450 nf 25", "cytochrome p450 nf 25", "pcn1", "p450 pcn1", "cytochrome p450 pcn1", "nifedipine", "oxidase", "nifedipine oxidase", "iii", "steroid", "inducible", "p450 iii", "steroid inducible", "iii steroid", "p450 iii steroid", "iii steroid inducible", "p450 iii steroid inducible", "quinine", "quinine 3", "3 monooxygenase", "quinine 3 monooxygenase", "isoform", "3a4 isoform", "isoform 2", "p450 3a4 isoform", "3a4 isoform 2", "cytochrome p450 3a4 isoform", "p450 3a4 isoform 2", "cytochrome p450 3a4 isoform 2", "family", "subfamily", "polypeptide", "family 3", "subfamily a", "polypeptide 4", "p450 family", "3 subfamily", "a polypeptide", "cytochrome p450 family", "p450 family 3", "family 3 subfamily", "3 subfamily a", "subfamily a polypeptide", "a polypeptide 4", "cytochrome p450 family 3", "family 3 subfamily a", "subfamily a polypeptide 4", "iiia", "niphedipine", "subfamily iiia", "niphedipine oxidase", "polypeptide 3", "p450 subfamily", "iiia niphedipine", "cytochrome p450 subfamily", "p450 subfamily iiia", "subfamily iiia niphedipine", "iiia niphedipine oxidase", "oxidase polypeptide", "cytochrome p450 subfamily iiia", "subfamily iiia niphedipine oxidase", "niphedipine oxidase polypeptide", "oxidase polypeptide 3", "oxidase polypeptide 4", "glucocorticoid", "glucocorticoid inducible", "inducible p450", "glucocorticoid inducible p450", "taurochenodeoxycholate", "alpha", "taurochenodeoxycholate 6", "6 alpha", "alpha hydroxylase", "taurochenodeoxycholate 6 alpha", "6 alpha hydroxylase", "taurochenodeoxycholate 6 alpha hydroxylase" ] }, { "record_id": "MONDO:0033641", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033641", "0033641", "mim:619074", "619074" ] }, { "record_id": "MONDO:0033641", "record_type": "disease", "section": "disease_name", "phraselist": [ "cleft", "palate", "proliferative", "retinopathy", "and", "developmental", "delay", "cleft palate", "proliferative retinopathy", "and developmental", "developmental delay", "palate proliferative", "retinopathy and", "and developmental delay", "cleft palate proliferative", "palate proliferative retinopathy", "proliferative retinopathy and", "retinopathy and developmental", "cleft palate proliferative retinopathy", "proliferative retinopathy and developmental", "retinopathy and developmental delay", "cpprdd" ] }, { "record_id": "MONDO:0033641", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033641", "record_type": "disease", "section": "proteins", "phraselist": [ "q14392", "q14392 1", "lrc32_human", "np_001122394", "glycoprotein", "lrrc32", "cpprdd", "d11s833e", "garp" ] }, { "record_id": "MONDO:0033641", "record_type": "disease", "section": "proteins", "phraselist": [ "transforming", "growth", "factor", "beta", "activator", "lrrc32", "transforming growth", "growth factor", "factor beta", "beta activator", "activator lrrc32", "transforming growth factor", "growth factor beta", "factor beta activator", "beta activator lrrc32", "transforming growth factor beta", "growth factor beta activator", "factor beta activator lrrc32", "transforming growth factor beta activator", "growth factor beta activator lrrc32", "garp", "garpin", "glycoprotein", "repetitions", "predominant", "glycoprotein a", "a repetitions", "repetitions predominant", "glycoprotein a repetitions", "a repetitions predominant", "glycoprotein a repetitions predominant", "leucine", "rich", "repeat", "containing", "protein", "32", "leucine rich", "rich repeat", "repeat containing", "containing protein", "protein 32", "leucine rich repeat", "rich repeat containing", "repeat containing protein", "containing protein 32", "leucine rich repeat containing", "rich repeat containing protein", "repeat containing protein 32", "leucine rich repeat containing protein", "rich repeat containing protein 32", "isoform", "precursor", "lrrc32 isoform", "isoform a", "a precursor", "activator lrrc32 isoform", "lrrc32 isoform a", "isoform a precursor", "beta activator lrrc32 isoform", "activator lrrc32 isoform a", "lrrc32 isoform a precursor", "factor beta activator lrrc32 isoform", "beta activator lrrc32 isoform a", "activator lrrc32 isoform a precursor" ] }, { "record_id": "MONDO:0033642", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033642", "0033642", "mim:619075", "619075" ] }, { "record_id": "MONDO:0033642", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "alopecia", "and", "brain", "abnormalities", "neurodevelopmental disorder", "disorder with", "with alopecia", "alopecia and", "and brain", "brain abnormalities", "neurodevelopmental disorder with", "disorder with alopecia", "with alopecia and", "alopecia and brain", "and brain abnormalities", "neurodevelopmental disorder with alopecia", "disorder with alopecia and", "with alopecia and brain", "alopecia and brain abnormalities", "neurodevelopmental disorder with alopecia and", "disorder with alopecia and brain", "with alopecia and brain abnormalities", "bachmann", "bupp", "syndrome", "bachmann bupp", "bupp syndrome", "bachmann bupp syndrome", "nedaba", "global", "developmental", "delay", "macrocephaly", "facial", "dysmorphism", "structural", "anomalies", "global developmental", "developmental delay", "delay alopecia", "alopecia macrocephaly", "macrocephaly facial", "facial dysmorphism", "dysmorphism structural", "structural brain", "brain anomalies", "anomalies syndrome", "global developmental delay", "developmental delay alopecia", "delay alopecia macrocephaly", "alopecia macrocephaly facial", "macrocephaly facial dysmorphism", "facial dysmorphism structural", "dysmorphism structural brain", "structural brain anomalies", "brain anomalies syndrome", "global developmental delay alopecia", "developmental delay alopecia macrocephaly", "delay alopecia macrocephaly facial", "alopecia macrocephaly facial dysmorphism", "macrocephaly facial dysmorphism structural", "facial dysmorphism structural brain", "dysmorphism structural brain anomalies", "structural brain anomalies syndrome", "global developmental delay alopecia macrocephaly", "developmental delay alopecia macrocephaly facial", "delay alopecia macrocephaly facial dysmorphism", "alopecia macrocephaly facial dysmorphism structural", "macrocephaly facial dysmorphism structural brain", "facial dysmorphism structural brain anomalies", "dysmorphism structural brain anomalies syndrome" ] }, { "record_id": "MONDO:0033642", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033642", "record_type": "disease", "section": "proteins", "phraselist": [ "p11926", "p11926 1", "dcor_human", "np_001274118", "odc1", "babs", "nedba", "nedbia", "odc" ] }, { "record_id": "MONDO:0033642", "record_type": "disease", "section": "proteins", "phraselist": [ "ornithine", "decarboxylase", "ornithine decarboxylase", "4.1.1.17", "odc", "isoform", "decarboxylase isoform", "isoform 1", "ornithine decarboxylase isoform", "decarboxylase isoform 1", "ornithine decarboxylase isoform 1" ] }, { "record_id": "MONDO:0033644", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033644", "0033644", "mim:619082", "619082" ] }, { "record_id": "MONDO:0033644", "record_type": "disease", "section": "disease_name", "phraselist": [ "microcornea", "rod", "cone", "dystrophy", "cataract", "and", "posterior", "staphyloma", "rod cone", "cone dystrophy", "and posterior", "posterior staphyloma", "staphyloma 1", "microcornea rod", "rod cone dystrophy", "dystrophy cataract", "cataract and", "and posterior staphyloma", "posterior staphyloma 1", "microcornea rod cone", "cone dystrophy cataract", "cataract and posterior", "and posterior staphyloma 1", "microcornea rod cone dystrophy", "rod cone dystrophy cataract", "dystrophy cataract and", "cataract and posterior staphyloma", "mrcs1" ] }, { "record_id": "MONDO:0033644", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033644", "record_type": "disease", "section": "proteins", "phraselist": [ "p36404", "p36404 1", "arl2_human", "np_001186674", "arl2", "arfl2", "mrcs1" ] }, { "record_id": "MONDO:0033644", "record_type": "disease", "section": "proteins", "phraselist": [ "adp", "ribosylation", "factor", "like", "protein", "adp ribosylation", "ribosylation factor", "factor like", "like protein", "protein 2", "adp ribosylation factor", "ribosylation factor like", "factor like protein", "like protein 2", "adp ribosylation factor like", "ribosylation factor like protein", "factor like protein 2", "adp ribosylation factor like protein", "ribosylation factor like protein 2", "gtpase", "like gtpase", "gtpase 2", "factor like gtpase", "like gtpase 2", "ribosylation factor like gtpase", "factor like gtpase 2", "adp ribosylation factor like gtpase", "ribosylation factor like gtpase 2", "like 2", "factor like 2", "ribosylation factor like 2", "adp ribosylation factor like 2", "isoform", "2 isoform", "isoform 2", "protein 2 isoform", "2 isoform 2", "like protein 2 isoform", "protein 2 isoform 2", "factor like protein 2 isoform", "like protein 2 isoform 2" ] }, { "record_id": "MONDO:0033658", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033658", "0033658", "mim:619072", "619072" ] }, { "record_id": "MONDO:0033658", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "seizures", "and", "brain", "atrophy", "neurodevelopmental disorder", "disorder with", "with seizures", "seizures and", "and brain", "brain atrophy", "neurodevelopmental disorder with", "disorder with seizures", "with seizures and", "seizures and brain", "and brain atrophy", "neurodevelopmental disorder with seizures", "disorder with seizures and", "with seizures and brain", "seizures and brain atrophy", "neurodevelopmental disorder with seizures and", "disorder with seizures and brain", "with seizures and brain atrophy", "nedseba" ] }, { "record_id": "MONDO:0033658", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033658", "record_type": "disease", "section": "proteins", "phraselist": [ "q9upt5", "q9upt5 3", "exoc7_human", "np_001013861", "glycoprotein", "exoc7", "3p", "2 5", "5 3p", "2 5 3p", "blom4", "ex070", "exo70", "exo70p", "kiaa1067", "nedseba", "yjl085w" ] }, { "record_id": "MONDO:0033658", "record_type": "disease", "section": "proteins", "phraselist": [ "exocyst", "complex", "component", "exocyst complex", "complex component", "component 7", "exocyst complex component", "complex component 7", "exocyst complex component 7", "exo70", "component exo70", "complex component exo70", "exocyst complex component exo70", "isoform", "7 isoform", "isoform 1", "component 7 isoform", "7 isoform 1", "complex component 7 isoform", "component 7 isoform 1", "exocyst complex component 7 isoform", "complex component 7 isoform 1" ] }, { "record_id": "MONDO:0033662", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033662", "0033662", "mim:619076", "619076" ] }, { "record_id": "MONDO:0033662", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "seizures", "and", "brain", "atrophy", "neurodevelopmental disorder", "disorder with", "with microcephaly", "and brain", "brain atrophy", "neurodevelopmental disorder with", "disorder with microcephaly", "microcephaly seizures", "seizures and", "and brain atrophy", "neurodevelopmental disorder with microcephaly", "with microcephaly seizures", "seizures and brain", "disorder with microcephaly seizures", "microcephaly seizures and", "seizures and brain atrophy", "nedmisb" ] }, { "record_id": "MONDO:0033662", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033662", "record_type": "disease", "section": "proteins", "phraselist": [ "q8iyi6", "q8iyi6 1", "exoc8_human", "np_787072", "glycoprotein", "exoc8", "exo84", "exo84p", "nedmisb", "sec84" ] }, { "record_id": "MONDO:0033662", "record_type": "disease", "section": "proteins", "phraselist": [ "exocyst", "complex", "component", "exocyst complex", "complex component", "component 8", "exocyst complex component", "complex component 8", "exocyst complex component 8", "84", "kda", "subunit", "complex 84", "84 kda", "kda subunit", "exocyst complex 84", "complex 84 kda", "84 kda subunit", "exocyst complex 84 kda", "complex 84 kda subunit", "exocyst complex 84 kda subunit" ] }, { "record_id": "MONDO:0033664", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033664", "0033664", "mim:619080", "619080" ] }, { "record_id": "MONDO:0033664", "record_type": "disease", "section": "disease_name", "phraselist": [ "kilquist", "syndrome", "kilquist syndrome", "kilqs", "slc12a2", "related", "autosomal", "recessive", "neonatal", "developmental", "delay", "intellectual", "disability", "feeding", "difficulty", "sensorineural", "deafness", "slc12a2 related", "related autosomal", "autosomal recessive", "recessive neonatal", "neonatal developmental", "developmental delay", "delay intellectual", "intellectual disability", "disability feeding", "feeding difficulty", "difficulty sensorineural", "sensorineural deafness", "deafness syndrome", "slc12a2 related autosomal", "related autosomal recessive", "autosomal recessive neonatal", "recessive neonatal developmental", "neonatal developmental delay", "developmental delay intellectual", "delay intellectual disability", "intellectual disability feeding", "disability feeding difficulty", "feeding difficulty sensorineural", "difficulty sensorineural deafness", "sensorineural deafness syndrome", "slc12a2 related autosomal recessive", "related autosomal recessive neonatal", "autosomal recessive neonatal developmental", "recessive neonatal developmental delay", "neonatal developmental delay intellectual", "developmental delay intellectual disability", "delay intellectual disability feeding", "intellectual disability feeding difficulty", "disability feeding difficulty sensorineural", "feeding difficulty sensorineural deafness", "difficulty sensorineural deafness syndrome", "slc12a2 related autosomal recessive neonatal", "related autosomal recessive neonatal developmental", "autosomal recessive neonatal developmental delay", "recessive neonatal developmental delay intellectual", "neonatal developmental delay intellectual disability", "developmental delay intellectual disability feeding", "delay intellectual disability feeding difficulty", "intellectual disability feeding difficulty sensorineural", "disability feeding difficulty sensorineural deafness", "feeding difficulty sensorineural deafness syndrome" ] }, { "record_id": "MONDO:0033664", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033664", "record_type": "disease", "section": "proteins", "phraselist": [ "p55011", "p55011 1", "s12a2_human", "np_001037", "glycoprotein", "slc12a2", "bsc", "bsc 2", "bsc2", "ccc1", "kilqs", "nkcc1", "ppp1r141", "hnkcc1" ] }, { "record_id": "MONDO:0033664", "record_type": "disease", "section": "proteins", "phraselist": [ "solute", "carrier", "family", "12", "member", "solute carrier", "carrier family", "family 12", "12 member", "member 2", "solute carrier family", "carrier family 12", "family 12 member", "12 member 2", "solute carrier family 12", "carrier family 12 member", "family 12 member 2", "solute carrier family 12 member", "carrier family 12 member 2", "bsc2", "basolateral", "na", "cl", "symporter", "basolateral na", "na k", "k cl", "cl symporter", "basolateral na k", "na k cl", "k cl symporter", "basolateral na k cl", "na k cl symporter", "basolateral na k cl symporter", "bumetanide", "sensitive", "sodium", "potassium", "chloride", "cotransporter", "bumetanide sensitive", "sensitive sodium", "chloride cotransporter", "cotransporter 2", "bumetanide sensitive sodium", "sodium potassium", "potassium chloride", "chloride cotransporter 2", "sensitive sodium potassium", "potassium chloride cotransporter", "bumetanide sensitive sodium potassium", "sodium potassium chloride", "potassium chloride cotransporter 2", "2cl", "k 2cl", "2cl cotransporter", "cotransporter 1", "na k 2cl", "k 2cl cotransporter", "2cl cotransporter 1", "na k 2cl cotransporter", "k 2cl cotransporter 1", "na k 2cl cotransporter 1", "type", "sensitive cotransporter", "cotransporter type", "type 2", "bumetanide sensitive cotransporter", "sensitive cotransporter type", "cotransporter type 2", "bumetanide sensitive cotransporter type", "sensitive cotransporter type 2", "bumetanide sensitive cotransporter type 2", "chloride cotransporter 1", "potassium chloride cotransporter 1", "hnkcc1", "protein", "phosphatase", "regulatory", "subunit", "141", "protein phosphatase", "phosphatase 1", "regulatory subunit", "subunit 141", "protein phosphatase 1", "1 regulatory", "regulatory subunit 141", "phosphatase 1 regulatory", "1 regulatory subunit", "protein phosphatase 1 regulatory", "phosphatase 1 regulatory subunit", "1 regulatory subunit 141", "sodium/potassium/chloride", "transporter", "sodium/potassium/chloride transporter", "12 sodium/potassium/chloride", "family 12 sodium/potassium/chloride", "12 sodium/potassium/chloride transporter", "transporter member", "carrier family 12 sodium/potassium/chloride", "family 12 sodium/potassium/chloride transporter", "sodium/potassium/chloride transporter member", "transporter member 2", "transporters", "sodium/potassium/chloride transporters", "12 sodium/potassium/chloride transporters", "transporters member", "family 12 sodium/potassium/chloride transporters", "sodium/potassium/chloride transporters member", "transporters member 2", "isoform", "2 isoform", "isoform 1", "member 2 isoform", "2 isoform 1", "12 member 2 isoform", "member 2 isoform 1", "family 12 member 2 isoform", "12 member 2 isoform 1" ] }, { "record_id": "MONDO:0033667", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033667", "0033667", "mim:619083", "619083" ] }, { "record_id": "MONDO:0033667", "record_type": "disease", "section": "disease_name", "phraselist": [ "delpire", "mcneill", "syndrome", "delpire mcneill", "mcneill syndrome", "delpire mcneill syndrome", "delmnes", "slc12a2", "related", "autosomal", "dominant", "infantile", "developmental", "delay", "intellectual", "disability", "sensorineural", "deafness", "slc12a2 related", "related autosomal", "autosomal dominant", "dominant infantile", "infantile developmental", "developmental delay", "delay intellectual", "intellectual disability", "disability sensorineural", "sensorineural deafness", "deafness syndrome", "slc12a2 related autosomal", "related autosomal dominant", "autosomal dominant infantile", "dominant infantile developmental", "infantile developmental delay", "developmental delay intellectual", "delay intellectual disability", "intellectual disability sensorineural", "disability sensorineural deafness", "sensorineural deafness syndrome", "slc12a2 related autosomal dominant", "related autosomal dominant infantile", "autosomal dominant infantile developmental", "dominant infantile developmental delay", "infantile developmental delay intellectual", "developmental delay intellectual disability", "delay intellectual disability sensorineural", "intellectual disability sensorineural deafness", "disability sensorineural deafness syndrome", "slc12a2 related autosomal dominant infantile", "related autosomal dominant infantile developmental", "autosomal dominant infantile developmental delay", "dominant infantile developmental delay intellectual", "infantile developmental delay intellectual disability", "developmental delay intellectual disability sensorineural", "delay intellectual disability sensorineural deafness", "intellectual disability sensorineural deafness syndrome" ] }, { "record_id": "MONDO:0033667", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033667", "record_type": "disease", "section": "proteins", "phraselist": [ "p55011", "p55011 1", "s12a2_human", "np_001037", "glycoprotein", "slc12a2", "bsc", "bsc 2", "bsc2", "ccc1", "kilqs", "nkcc1", "ppp1r141", "hnkcc1" ] }, { "record_id": "MONDO:0033667", "record_type": "disease", "section": "proteins", "phraselist": [ "solute", "carrier", "family", "12", "member", "solute carrier", "carrier family", "family 12", "12 member", "member 2", "solute carrier family", "carrier family 12", "family 12 member", "12 member 2", "solute carrier family 12", "carrier family 12 member", "family 12 member 2", "solute carrier family 12 member", "carrier family 12 member 2", "bsc2", "basolateral", "na", "cl", "symporter", "basolateral na", "na k", "k cl", "cl symporter", "basolateral na k", "na k cl", "k cl symporter", "basolateral na k cl", "na k cl symporter", "basolateral na k cl symporter", "bumetanide", "sensitive", "sodium", "potassium", "chloride", "cotransporter", "bumetanide sensitive", "sensitive sodium", "chloride cotransporter", "cotransporter 2", "bumetanide sensitive sodium", "sodium potassium", "potassium chloride", "chloride cotransporter 2", "sensitive sodium potassium", "potassium chloride cotransporter", "bumetanide sensitive sodium potassium", "sodium potassium chloride", "potassium chloride cotransporter 2", "2cl", "k 2cl", "2cl cotransporter", "cotransporter 1", "na k 2cl", "k 2cl cotransporter", "2cl cotransporter 1", "na k 2cl cotransporter", "k 2cl cotransporter 1", "na k 2cl cotransporter 1", "type", "sensitive cotransporter", "cotransporter type", "type 2", "bumetanide sensitive cotransporter", "sensitive cotransporter type", "cotransporter type 2", "bumetanide sensitive cotransporter type", "sensitive cotransporter type 2", "bumetanide sensitive cotransporter type 2", "chloride cotransporter 1", "potassium chloride cotransporter 1", "hnkcc1", "protein", "phosphatase", "regulatory", "subunit", "141", "protein phosphatase", "phosphatase 1", "regulatory subunit", "subunit 141", "protein phosphatase 1", "1 regulatory", "regulatory subunit 141", "phosphatase 1 regulatory", "1 regulatory subunit", "protein phosphatase 1 regulatory", "phosphatase 1 regulatory subunit", "1 regulatory subunit 141", "sodium/potassium/chloride", "transporter", "sodium/potassium/chloride transporter", "12 sodium/potassium/chloride", "family 12 sodium/potassium/chloride", "12 sodium/potassium/chloride transporter", "transporter member", "carrier family 12 sodium/potassium/chloride", "family 12 sodium/potassium/chloride transporter", "sodium/potassium/chloride transporter member", "transporter member 2", "transporters", "sodium/potassium/chloride transporters", "12 sodium/potassium/chloride transporters", "transporters member", "family 12 sodium/potassium/chloride transporters", "sodium/potassium/chloride transporters member", "transporters member 2", "isoform", "2 isoform", "isoform 1", "member 2 isoform", "2 isoform 1", "12 member 2 isoform", "member 2 isoform 1", "family 12 member 2 isoform", "12 member 2 isoform 1" ] }, { "record_id": "MONDO:0033864", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0033864", "0033864", "mim:618218", "618218" ] }, { "record_id": "MONDO:0033864", "record_type": "disease", "section": "disease_name", "phraselist": [ "infantile", "hypotonia", "oculomotor", "anomalies", "hyperkinetic", "movements", "developmental", "delay", "syndrome", "infantile hypotonia", "hypotonia oculomotor", "oculomotor anomalies", "anomalies hyperkinetic", "hyperkinetic movements", "movements developmental", "developmental delay", "delay syndrome", "infantile hypotonia oculomotor", "hypotonia oculomotor anomalies", "oculomotor anomalies hyperkinetic", "anomalies hyperkinetic movements", "hyperkinetic movements developmental", "movements developmental delay", "developmental delay syndrome", "infantile hypotonia oculomotor anomalies", "hypotonia oculomotor anomalies hyperkinetic", "oculomotor anomalies hyperkinetic movements", "anomalies hyperkinetic movements developmental", "hyperkinetic movements developmental delay", "movements developmental delay syndrome", "infantile hypotonia oculomotor anomalies hyperkinetic", "hypotonia oculomotor anomalies hyperkinetic movements", "oculomotor anomalies hyperkinetic movements developmental", "anomalies hyperkinetic movements developmental delay", "hyperkinetic movements developmental delay syndrome", "baker", "gordon", "baker gordon", "gordon syndrome", "baker gordon syndrome" ] }, { "record_id": "MONDO:0033864", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0033864", "record_type": "disease", "section": "proteins", "phraselist": [ "p21579", "p21579 1", "syt1_human", "np_001129277", "glycoprotein", "syt1", "bagos", "p65", "svp65", "syt" ] }, { "record_id": "MONDO:0033864", "record_type": "disease", "section": "proteins", "phraselist": [ "synaptotagmin", "synaptotagmin 1", "synaptotagmin i", "syti", "p65", "isoform", "1 isoform", "isoform 1", "synaptotagmin 1 isoform", "1 isoform 1", "synaptotagmin 1 isoform 1" ] }, { "record_id": "MONDO:0034054", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0034054", "0034054", "mim:618261", "618261" ] }, { "record_id": "MONDO:0034054", "record_type": "disease", "section": "disease_name", "phraselist": [ "severe", "combined", "immunodeficiency", "due", "to", "cd70", "deficiency", "severe combined", "combined immunodeficiency", "immunodeficiency due", "due to", "to cd70", "cd70 deficiency", "severe combined immunodeficiency", "combined immunodeficiency due", "immunodeficiency due to", "due to cd70", "to cd70 deficiency", "severe combined immunodeficiency due", "combined immunodeficiency due to", "immunodeficiency due to cd70", "due to cd70 deficiency", "severe combined immunodeficiency due to", "combined immunodeficiency due to cd70", "immunodeficiency due to cd70 deficiency", "lymphoproliferative", "syndrome", "lymphoproliferative syndrome", "syndrome 3", "lymphoproliferative syndrome 3" ] }, { "record_id": "MONDO:0034054", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0034054", "record_type": "disease", "section": "proteins", "phraselist": [ "p32970", "p32970 1", "cd70_human", "np_001243", "glycoprotein", "cd70", "cd27", "cd27 l", "cd27lg", "cd27l", "lpfs3", "tnfsf7", "tnlg8a" ] }, { "record_id": "MONDO:0034054", "record_type": "disease", "section": "proteins", "phraselist": [ "cd70", "antigen", "cd70 antigen", "cd27", "ligand", "cd27 ligand", "cd27 l", "isoform", "antigen isoform", "isoform 1", "cd70 antigen isoform", "antigen isoform 1", "cd70 antigen isoform 1", "ki", "24", "ki 24", "24 antigen", "ki 24 antigen", "tumor", "necrosis", "factor", "superfamily", "member", "tumor necrosis", "necrosis factor", "factor ligand", "ligand superfamily", "superfamily member", "member 7", "tumor necrosis factor", "necrosis factor ligand", "factor ligand superfamily", "ligand superfamily member", "superfamily member 7", "tumor necrosis factor ligand", "necrosis factor ligand superfamily", "factor ligand superfamily member", "ligand superfamily member 7", "tumor necrosis factor ligand superfamily", "necrosis factor ligand superfamily member", "factor ligand superfamily member 7", "surface", "surface antigen", "antigen cd70", "surface antigen cd70", "8a", "ligand 8a", "factor ligand 8a", "necrosis factor ligand 8a", "tumor necrosis factor ligand 8a" ] }, { "record_id": "MONDO:0034121", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0034121", "0034121", "mim:618321", "618321" ] }, { "record_id": "MONDO:0034121", "record_type": "disease", "section": "disease_name", "phraselist": [ "nad", "hx", "dehydratase", "deficiency", "nad p", "p hx", "hx dehydratase", "dehydratase deficiency", "nad p hx", "p hx dehydratase", "hx dehydratase deficiency", "nad p hx dehydratase", "p hx dehydratase deficiency", "nad p hx dehydratase deficiency", "pebel2", "encephalopathy", "progressive", "early", "onset", "with", "brain", "edema", "and/or", "leukoencephalopathy", "early onset", "with brain", "brain edema", "edema and/or", "and/or leukoencephalopathy", "encephalopathy progressive", "progressive early", "onset with", "with brain edema", "brain edema and/or", "edema and/or leukoencephalopathy", "leukoencephalopathy 2", "progressive early onset", "early onset with", "onset with brain", "with brain edema and/or", "brain edema and/or leukoencephalopathy", "and/or leukoencephalopathy 2", "encephalopathy progressive early", "early onset with brain", "onset with brain edema", "with brain edema and/or leukoencephalopathy", "edema and/or leukoencephalopathy 2" ] }, { "record_id": "MONDO:0034121", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0034121", "record_type": "disease", "section": "proteins", "phraselist": [ "q8iw45", "q8iw45 1", "nnrd_human", "np_001229810", "glycoprotein", "naxd", "carkd", "lp3298", "pebel2" ] }, { "record_id": "MONDO:0034121", "record_type": "disease", "section": "proteins", "phraselist": [ "atp", "dependent", "nad", "hydrate", "dehydratase", "atp dependent", "nad p", "p h", "h hydrate", "hydrate dehydratase", "dependent s", "s nad", "nad p h", "p h hydrate", "h hydrate dehydratase", "atp dependent s", "s nad p", "nad p h hydrate", "p h hydrate dehydratase", "dependent s nad", "s nad p h", "nad p h hydrate dehydratase", "4.2.1.93", "isoform", "dehydratase isoform", "isoform b", "hydrate dehydratase isoform", "dehydratase isoform b", "h hydrate dehydratase isoform", "hydrate dehydratase isoform b", "p h hydrate dehydratase isoform", "h hydrate dehydratase isoform b", "dependent nad", "atp dependent nad", "dependent nad p", "atp dependent nad p", "dependent nad p h", "atp dependent nad p h", "dependent nad p h hydrate", "hx", "p hx", "hx dehydratase", "nad p hx", "p hx dehydratase", "dependent nad p hx", "nad p hx dehydratase", "atp dependent nad p hx", "dependent nad p hx dehydratase", "carbohydrate", "kinase", "domain", "containing", "protein", "carbohydrate kinase", "kinase domain", "domain containing", "containing protein", "carbohydrate kinase domain", "kinase domain containing", "domain containing protein", "carbohydrate kinase domain containing", "kinase domain containing protein", "carbohydrate kinase domain containing protein" ] }, { "record_id": "MONDO:0034145", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0034145", "0034145", "mim:618440", "618440" ] }, { "record_id": "MONDO:0034145", "record_type": "disease", "section": "disease_name", "phraselist": [ "oculocerebrodental", "syndrome", "oculocerebrodental syndrome", "ocskd", "oculoskeletodental", "oculoskeletodental syndrome" ] }, { "record_id": "MONDO:0034145", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0034145", "record_type": "disease", "section": "proteins", "phraselist": [ "o00443", "o00443 1", "p3c2a_human", "np_001308307", "glycoprotein", "pik3c2a", "cpk", "ocskd", "pi3", "c2", "alpha", "pi3 k", "k c2", "c2 alpha", "pi3 k c2", "k c2 alpha", "pi3 k c2 alpha", "c2a", "k c2a", "pi3 k c2a", "pi3k", "pi3k c2", "pi3k c2 alpha", "c2alpha", "pi3k c2alpha" ] }, { "record_id": "MONDO:0034145", "record_type": "disease", "section": "proteins", "phraselist": [ "phosphatidylinositol", "phosphate", "kinase", "c2", "domain", "containing", "subunit", "alpha", "phosphatidylinositol 4", "4 phosphate", "phosphate 3", "3 kinase", "kinase c2", "c2 domain", "domain containing", "containing subunit", "subunit alpha", "phosphatidylinositol 4 phosphate", "4 phosphate 3", "phosphate 3 kinase", "3 kinase c2", "kinase c2 domain", "c2 domain containing", "domain containing subunit", "containing subunit alpha", "phosphatidylinositol 4 phosphate 3", "4 phosphate 3 kinase", "phosphate 3 kinase c2", "3 kinase c2 domain", "kinase c2 domain containing", "c2 domain containing subunit", "domain containing subunit alpha", "phosphatidylinositol 4 phosphate 3 kinase", "4 phosphate 3 kinase c2", "phosphate 3 kinase c2 domain", "3 kinase c2 domain containing", "kinase c2 domain containing subunit", "c2 domain containing subunit alpha", "2.7.1.137", "2.7.1.153", "2.7.1.154", "c2 containing", "containing phosphatidylinositol", "phosphatidylinositol kinase", "c2 containing phosphatidylinositol", "containing phosphatidylinositol kinase", "c2 containing phosphatidylinositol kinase", "pi3k", "pi3k c2", "c2 alpha", "pi3k c2 alpha", "phosphoinositide", "phosphoinositide 3", "phosphoinositide 3 kinase", "kinase c2 alpha", "phosphoinositide 3 kinase c2", "3 kinase c2 alpha", "phosphoinositide 3 kinase c2 alpha", "ptdins", "ptdins 3", "c2 subunit", "ptdins 3 kinase", "kinase c2 subunit", "c2 subunit alpha", "ptdins 3 kinase c2", "3 kinase c2 subunit", "kinase c2 subunit alpha", "ptdins 3 kinase c2 subunit", "3 kinase c2 subunit alpha", "isoform", "alpha isoform", "isoform 1", "subunit alpha isoform", "alpha isoform 1", "containing subunit alpha isoform", "subunit alpha isoform 1", "domain containing subunit alpha isoform", "containing subunit alpha isoform 1", "class", "polypeptide", "class 2", "alpha polypeptide", "kinase class", "2 alpha", "3 kinase class", "kinase class 2", "class 2 alpha", "2 alpha polypeptide", "phosphoinositide 3 kinase class", "3 kinase class 2", "class 2 alpha polypeptide" ] }, { "record_id": "MONDO:0035133", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0035133", "0035133", "mim:617991", "617991" ] }, { "record_id": "MONDO:0035133", "record_type": "disease", "section": "disease_name", "phraselist": [ "phip", "related", "behavioral", "problems", "intellectual", "disability", "obesity", "dysmorphic", "features", "syndrome", "phip related", "related behavioral", "behavioral problems", "problems intellectual", "intellectual disability", "disability obesity", "obesity dysmorphic", "dysmorphic features", "features syndrome", "phip related behavioral", "related behavioral problems", "behavioral problems intellectual", "problems intellectual disability", "intellectual disability obesity", "disability obesity dysmorphic", "obesity dysmorphic features", "dysmorphic features syndrome", "phip related behavioral problems", "related behavioral problems intellectual", "behavioral problems intellectual disability", "problems intellectual disability obesity", "intellectual disability obesity dysmorphic", "disability obesity dysmorphic features", "obesity dysmorphic features syndrome", "phip related behavioral problems intellectual", "related behavioral problems intellectual disability", "behavioral problems intellectual disability obesity", "problems intellectual disability obesity dysmorphic", "intellectual disability obesity dysmorphic features", "disability obesity dysmorphic features syndrome", "chung", "jansen", "chung jansen", "jansen syndrome", "chung jansen syndrome", "developmental", "delay", "and", "developmental delay", "and dysmorphic", "delay intellectual", "obesity and", "and dysmorphic features", "developmental delay intellectual", "delay intellectual disability", "obesity and dysmorphic", "developmental delay intellectual disability", "disability obesity and", "obesity and dysmorphic features", "didod" ] }, { "record_id": "MONDO:0035133", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0035133", "record_type": "disease", "section": "proteins", "phraselist": [ "q8wwq0", "q8wwq0 1", "phip_human", "np_060404", "glycoprotein", "phip", "brwd2", "chujans", "dcaf14", "didod", "repid", "wdr11", "ndrp" ] }, { "record_id": "MONDO:0035133", "record_type": "disease", "section": "proteins", "phraselist": [ "ph", "interacting", "protein", "ph interacting", "interacting protein", "ph interacting protein", "ddb1", "and", "cul4", "associated", "factor", "14", "ddb1 and", "and cul4", "cul4 associated", "associated factor", "factor 14", "ddb1 and cul4", "and cul4 associated", "cul4 associated factor", "associated factor 14", "ddb1 and cul4 associated", "and cul4 associated factor", "cul4 associated factor 14", "ddb1 and cul4 associated factor", "and cul4 associated factor 14", "irs", "domain", "binding", "irs 1", "1 ph", "ph domain", "domain binding", "binding protein", "irs 1 ph", "1 ph domain", "ph domain binding", "domain binding protein", "irs 1 ph domain", "1 ph domain binding", "ph domain binding protein", "irs 1 ph domain binding", "1 ph domain binding protein", "phip", "wd", "repeat", "containing", "11", "wd repeat", "repeat containing", "containing protein", "protein 11", "wd repeat containing", "repeat containing protein", "containing protein 11", "wd repeat containing protein", "repeat containing protein 11", "wd repeat containing protein 11", "pleckstrin", "homology", "pleckstrin homology", "homology domain", "domain interacting", "pleckstrin homology domain", "homology domain interacting", "domain interacting protein", "pleckstrin homology domain interacting", "homology domain interacting protein", "pleckstrin homology domain interacting protein" ] }, { "record_id": "MONDO:0035651", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0035651", "0035651", "mim:620186", "620186" ] }, { "record_id": "MONDO:0035651", "record_type": "disease", "section": "disease_name", "phraselist": [ "choanal", "atresia", "athelia", "hypothyroidism", "delayed", "puberty", "short", "stature", "syndrome", "choanal atresia", "atresia athelia", "athelia hypothyroidism", "hypothyroidism delayed", "delayed puberty", "puberty short", "short stature", "stature syndrome", "choanal atresia athelia", "atresia athelia hypothyroidism", "athelia hypothyroidism delayed", "hypothyroidism delayed puberty", "delayed puberty short", "puberty short stature", "short stature syndrome", "choanal atresia athelia hypothyroidism", "atresia athelia hypothyroidism delayed", "athelia hypothyroidism delayed puberty", "hypothyroidism delayed puberty short", "delayed puberty short stature", "puberty short stature syndrome", "choanal atresia athelia hypothyroidism delayed", "atresia athelia hypothyroidism delayed puberty", "athelia hypothyroidism delayed puberty short", "hypothyroidism delayed puberty short stature", "delayed puberty short stature syndrome", "bcahh", "kmt2d", "related", "kmt2d related", "related choanal", "kmt2d related choanal", "related choanal atresia", "kmt2d related choanal atresia", "related choanal atresia athelia", "kmt2d related choanal atresia athelia", "related choanal atresia athelia hypothyroidism", "branchial", "arch", "abnormalities", "hearing", "loss", "and", "branchial arch", "arch abnormalities", "hearing loss", "and hypothyroidism", "hypothyroidism syndrome", "branchial arch abnormalities", "abnormalities choanal", "athelia hearing", "loss and", "and hypothyroidism syndrome", "arch abnormalities choanal", "abnormalities choanal atresia", "athelia hearing loss", "hearing loss and", "loss and hypothyroidism", "branchial arch abnormalities choanal", "arch abnormalities choanal atresia", "atresia athelia hearing", "hearing loss and hypothyroidism", "loss and hypothyroidism syndrome" ] }, { "record_id": "MONDO:0035651", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0035651", "record_type": "disease", "section": "proteins", "phraselist": [ "o14686", "o14686 1", "kmt2d_human", "np_003473", "glycoprotein", "kmt2d", "aad10", "alr", "bcahh", "cagl114", "kabuk1", "kms", "mll2", "mll4", "tnrc21" ] }, { "record_id": "MONDO:0035651", "record_type": "disease", "section": "proteins", "phraselist": [ "histone", "lysine", "methyltransferase", "2d", "histone lysine", "lysine n", "n methyltransferase", "methyltransferase 2d", "histone lysine n", "lysine n methyltransferase", "n methyltransferase 2d", "histone lysine n methyltransferase", "lysine n methyltransferase 2d", "histone lysine n methyltransferase 2d", "2.1.1.364", "all1", "related", "protein", "all1 related", "related protein", "all1 related protein", "kabuki", "make", "up", "syndrome", "kabuki make", "make up", "up syndrome", "kabuki make up", "make up syndrome", "kabuki make up syndrome", "myeloid/lymphoid", "or", "mixed", "lineage", "leukemia", "myeloid/lymphoid or", "or mixed", "mixed lineage", "lineage leukemia", "leukemia protein", "protein 2", "myeloid/lymphoid or mixed", "or mixed lineage", "mixed lineage leukemia", "lineage leukemia protein", "leukemia protein 2", "myeloid/lymphoid or mixed lineage", "or mixed lineage leukemia", "mixed lineage leukemia protein", "lineage leukemia protein 2", "myeloid/lymphoid or mixed lineage leukemia", "or mixed lineage leukemia protein", "mixed lineage leukemia protein 2", "mll2", "methyltransferase mll2", "n methyltransferase mll2", "lysine n methyltransferase mll2", "histone lysine n methyltransferase mll2", "specific", "specific methyltransferase", "lysine k", "k specific", "specific methyltransferase 2d", "k specific methyltransferase", "lysine k specific", "k specific methyltransferase 2d", "leukemia 2", "lineage leukemia 2", "mixed lineage leukemia 2", "or mixed lineage leukemia 2", "trinucleotide", "repeat", "containing", "21", "trinucleotide repeat", "repeat containing", "containing 21", "trinucleotide repeat containing", "repeat containing 21", "trinucleotide repeat containing 21" ] }, { "record_id": "MONDO:0035819", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0035819", "0035819", "mim:619273", "619273" ] }, { "record_id": "MONDO:0035819", "record_type": "disease", "section": "disease_name", "phraselist": [ "cerebellar", "hypoplasia", "intellectual", "disability", "congenital", "microcephaly", "dystonia", "anemia", "growth", "retardation", "syndrome", "cerebellar hypoplasia", "hypoplasia intellectual", "intellectual disability", "disability congenital", "congenital microcephaly", "microcephaly dystonia", "dystonia anemia", "anemia growth", "growth retardation", "retardation syndrome", "cerebellar hypoplasia intellectual", "hypoplasia intellectual disability", "intellectual disability congenital", "disability congenital microcephaly", "congenital microcephaly dystonia", "microcephaly dystonia anemia", "dystonia anemia growth", "anemia growth retardation", "growth retardation syndrome", "cerebellar hypoplasia intellectual disability", "hypoplasia intellectual disability congenital", "intellectual disability congenital microcephaly", "disability congenital microcephaly dystonia", "congenital microcephaly dystonia anemia", "microcephaly dystonia anemia growth", "dystonia anemia growth retardation", "anemia growth retardation syndrome", "cerebellar hypoplasia intellectual disability congenital", "hypoplasia intellectual disability congenital microcephaly", "intellectual disability congenital microcephaly dystonia", "disability congenital microcephaly dystonia anemia", "congenital microcephaly dystonia anemia growth", "microcephaly dystonia anemia growth retardation", "dystonia anemia growth retardation syndrome", "cimdag", "cimdag syndrome" ] }, { "record_id": "MONDO:0035819", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0035819", "record_type": "disease", "section": "proteins", "phraselist": [ "q9un37", "q9un37 1", "vps4a_human", "np_037377", "glycoprotein", "vps4a", "cimdag", "skd1a", "skd1", "skd2", "vps4", "vps4 1" ] }, { "record_id": "MONDO:0035819", "record_type": "disease", "section": "proteins", "phraselist": [ "vacuolar", "protein", "sorting", "associated", "4a", "vacuolar protein", "protein sorting", "sorting associated", "associated protein", "protein 4a", "vacuolar protein sorting", "protein sorting associated", "sorting associated protein", "associated protein 4a", "vacuolar protein sorting associated", "protein sorting associated protein", "sorting associated protein 4a", "vacuolar protein sorting associated protein", "protein sorting associated protein 4a", "3.6.4.6", "skd2", "protein skd2", "skd1", "homolog", "skd1 homolog", "vps4", "vps4 1", "hvps4", "factor", "sorting factor", "factor 4a", "protein sorting factor", "sorting factor 4a", "vacuolar protein sorting factor", "protein sorting factor 4a", "vacuolar protein sorting factor 4a", "vacuolar sorting", "sorting protein", "protein 4", "vacuolar sorting protein", "sorting protein 4", "vacuolar sorting protein 4" ] }, { "record_id": "MONDO:0036189", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0036189", "0036189", "mim:619318", "619318" ] }, { "record_id": "MONDO:0036189", "record_type": "disease", "section": "disease_name", "phraselist": [ "oculogastrointestinal", "neurodevelopmental", "syndrome", "oculogastrointestinal neurodevelopmental", "neurodevelopmental syndrome", "oculogastrointestinal neurodevelopmental syndrome", "ogin", "ogin syndrome" ] }, { "record_id": "MONDO:0036189", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0036189", "record_type": "disease", "section": "proteins", "phraselist": [ "o75808", "o75808 1", "can15_human", "np_005623", "glycoprotein", "capn15", "ogin", "solh" ] }, { "record_id": "MONDO:0036189", "record_type": "disease", "section": "proteins", "phraselist": [ "calpain", "15", "calpain 15", "3.4.22.", "small", "optic", "lobes", "homolog", "small optic", "optic lobes", "lobes homolog", "small optic lobes", "optic lobes homolog", "small optic lobes homolog" ] }, { "record_id": "MONDO:0036193", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0036193", "0036193", "mim:619279", "619279" ] }, { "record_id": "MONDO:0036193", "record_type": "disease", "section": "disease_name", "phraselist": [ "parkinsonism", "with", "polyneuropathy", "parkinsonism with", "with polyneuropathy", "parkinsonism with polyneuropathy" ] }, { "record_id": "MONDO:0036193", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0036193", "record_type": "disease", "section": "proteins", "phraselist": [ "p31930", "p31930 1", "qcr1_human", "np_003356", "glycoprotein", "uqcrc1", "d3s3191", "pknpy", "qcr1", "uqcr1" ] }, { "record_id": "MONDO:0036193", "record_type": "disease", "section": "proteins", "phraselist": [ "cytochrome", "c1", "complex", "subunit", "mitochondrial", "cytochrome b", "b c1", "c1 complex", "complex subunit", "subunit 1", "cytochrome b c1", "b c1 complex", "c1 complex subunit", "complex subunit 1", "1 mitochondrial", "cytochrome b c1 complex", "b c1 complex subunit", "c1 complex subunit 1", "subunit 1 mitochondrial", "cytochrome b c1 complex subunit", "b c1 complex subunit 1", "complex subunit 1 mitochondrial", "iii", "complex iii", "iii subunit", "complex iii subunit", "iii subunit 1", "complex iii subunit 1", "core", "protein", "core protein", "protein i", "core protein i", "ubiquinol", "reductase", "ubiquinol cytochrome", "cytochrome c", "c reductase", "reductase complex", "complex core", "protein 1", "ubiquinol cytochrome c", "cytochrome c reductase", "c reductase complex", "reductase complex core", "complex core protein", "core protein 1", "ubiquinol cytochrome c reductase", "cytochrome c reductase complex", "c reductase complex core", "reductase complex core protein", "complex core protein 1", "ubiquinol cytochrome c reductase complex", "cytochrome c reductase complex core", "c reductase complex core protein", "reductase complex core protein 1", "precursor", "mitochondrial precursor", "1 mitochondrial precursor", "subunit 1 mitochondrial precursor", "reductase core", "c reductase core", "reductase core protein", "cytochrome c reductase core", "c reductase core protein", "reductase core protein i", "ubiquinol cytochrome c reductase core", "cytochrome c reductase core protein", "c reductase core protein i" ] }, { "record_id": "MONDO:0036212", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0036212", "0036212", "mim:619338", "619338" ] }, { "record_id": "MONDO:0036212", "record_type": "disease", "section": "disease_name", "phraselist": [ "spastic", "paraparesis", "cataracts", "speech", "delay", "syndrome", "spastic paraparesis", "paraparesis cataracts", "cataracts speech", "speech delay", "delay syndrome", "spastic paraparesis cataracts", "paraparesis cataracts speech", "cataracts speech delay", "speech delay syndrome", "spastic paraparesis cataracts speech", "paraparesis cataracts speech delay", "cataracts speech delay syndrome", "spastic paraparesis cataracts speech delay", "paraparesis cataracts speech delay syndrome", "fatty", "acyl", "coa", "reductase", "superactivity", "fatty acyl", "acyl coa", "coa reductase", "reductase 1", "1 superactivity", "fatty acyl coa", "acyl coa reductase", "coa reductase 1", "reductase 1 superactivity", "fatty acyl coa reductase", "acyl coa reductase 1", "coa reductase 1 superactivity", "fatty acyl coa reductase 1", "acyl coa reductase 1 superactivity", "and", "and speech", "cataracts spastic", "paraparesis and", "and speech delay", "cataracts spastic paraparesis", "spastic paraparesis and", "paraparesis and speech", "spastic paraparesis and speech", "paraparesis and speech delay" ] }, { "record_id": "MONDO:0036212", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0036212", "record_type": "disease", "section": "proteins", "phraselist": [ "q8wvx9", "q8wvx9 1", "facr1_human", "np_115604", "far1", "cspsd", "mlstd2", "pfcrd", "pro4981", "sdr10e1" ] }, { "record_id": "MONDO:0036212", "record_type": "disease", "section": "proteins", "phraselist": [ "fatty", "acyl", "coa", "reductase", "fatty acyl", "acyl coa", "coa reductase", "reductase 1", "fatty acyl coa", "acyl coa reductase", "coa reductase 1", "fatty acyl coa reductase", "acyl coa reductase 1", "fatty acyl coa reductase 1", "1.2.1.84", "far1", "male", "sterility", "domain", "containing", "protein", "male sterility", "sterility domain", "domain containing", "containing protein", "protein 2", "male sterility domain", "sterility domain containing", "domain containing protein", "containing protein 2", "male sterility domain containing", "sterility domain containing protein", "domain containing protein 2", "male sterility domain containing protein", "sterility domain containing protein 2", "isoform", "1 isoform", "isoform 2", "reductase 1 isoform", "1 isoform 2", "coa reductase 1 isoform", "reductase 1 isoform 2", "acyl coa reductase 1 isoform", "coa reductase 1 isoform 2", "short", "chain", "dehydrogenase/reductase", "family", "10e", "member", "short chain", "chain dehydrogenase/reductase", "dehydrogenase/reductase family", "family 10e", "member 1", "short chain dehydrogenase/reductase", "chain dehydrogenase/reductase family", "dehydrogenase/reductase family 10e", "10e member", "short chain dehydrogenase/reductase family", "chain dehydrogenase/reductase family 10e", "family 10e member", "10e member 1", "short chain dehydrogenase/reductase family 10e", "dehydrogenase/reductase family 10e member", "family 10e member 1" ] }, { "record_id": "MONDO:0043364", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0043364", "0043364", "mim:261500", "261500" ] }, { "record_id": "MONDO:0043364", "record_type": "disease", "section": "disease_name", "phraselist": [ "eosinophil", "peroxidase", "deficiency", "eosinophil peroxidase", "peroxidase deficiency", "eosinophil peroxidase deficiency", "epxd", "presentey", "anomaly", "presentey anomaly", "partial", "deficiency partial", "peroxidase deficiency partial", "eosinophil peroxidase deficiency partial", "and", "phospholipid", "in", "eosinophils", "peroxidase and", "and phospholipid", "phospholipid deficiency", "deficiency in", "in eosinophils", "peroxidase and phospholipid", "and phospholipid deficiency", "phospholipid deficiency in", "deficiency in eosinophils", "peroxidase and phospholipid deficiency", "and phospholipid deficiency in", "phospholipid deficiency in eosinophils", "peroxidase and phospholipid deficiency in", "and phospholipid deficiency in eosinophils" ] }, { "record_id": "MONDO:0043364", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0043364", "record_type": "disease", "section": "proteins", "phraselist": [ "p11678", "p11678 1", "pere_human", "np_000493", "glycoprotein", "epx", "eper", "epo", "epp", "pen", "epx pen", "epxd" ] }, { "record_id": "MONDO:0043364", "record_type": "disease", "section": "proteins", "phraselist": [ "eosinophil", "peroxidase", "eosinophil peroxidase", "1.11.1.7", "epo", "preproprotein", "peroxidase preproprotein", "eosinophil peroxidase preproprotein" ] }, { "record_id": "MONDO:0044205", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044205", "0044205", "mim:617941", "617941" ] }, { "record_id": "MONDO:0044205", "record_type": "disease", "section": "disease_name", "phraselist": [ "shwachman", "diamond", "syndrome", "shwachman diamond", "diamond syndrome", "syndrome 2", "shwachman diamond syndrome", "diamond syndrome 2", "shwachman diamond syndrome 2", "efl1", "related", "efl1 related", "related shwachman", "efl1 related shwachman", "related shwachman diamond", "efl1 related shwachman diamond", "related shwachman diamond syndrome", "efl1 related shwachman diamond syndrome", "sds2" ] }, { "record_id": "MONDO:0044205", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044205", "record_type": "disease", "section": "proteins", "phraselist": [ "q7z2z2", "q7z2z2 1", "efl1_human", "np_001035700", "glycoprotein", "efl1", "eftud1", "fam42a", "hst19294", "ria1", "sds2" ] }, { "record_id": "MONDO:0044205", "record_type": "disease", "section": "proteins", "phraselist": [ "elongation", "factor", "like", "gtpase", "elongation factor", "factor like", "like gtpase", "gtpase 1", "elongation factor like", "factor like gtpase", "like gtpase 1", "elongation factor like gtpase", "factor like gtpase 1", "elongation factor like gtpase 1", "3.6.5.", "tu", "gtp", "binding", "domain", "containing", "protein", "factor tu", "tu gtp", "gtp binding", "binding domain", "domain containing", "containing protein", "protein 1", "elongation factor tu", "factor tu gtp", "tu gtp binding", "gtp binding domain", "binding domain containing", "domain containing protein", "containing protein 1", "elongation factor tu gtp", "factor tu gtp binding", "tu gtp binding domain", "gtp binding domain containing", "binding domain containing protein", "domain containing protein 1", "elongation factor tu gtp binding", "factor tu gtp binding domain", "tu gtp binding domain containing", "gtp binding domain containing protein", "binding domain containing protein 1", "like 1", "factor like 1", "elongation factor like 1", "fam42a", "protein fam42a", "containing 1", "domain containing 1", "binding domain containing 1", "gtp binding domain containing 1", "isoform", "1 isoform", "isoform 2", "gtpase 1 isoform", "1 isoform 2", "like gtpase 1 isoform", "gtpase 1 isoform 2", "factor like gtpase 1 isoform", "like gtpase 1 isoform 2", "ribosome", "assembly", "homolog", "ribosome assembly", "assembly 1", "1 homolog", "ribosome assembly 1", "assembly 1 homolog", "ribosome assembly 1 homolog" ] }, { "record_id": "MONDO:0044207", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044207", "0044207", "mim:245480", "245480" ] }, { "record_id": "MONDO:0044207", "record_type": "disease", "section": "disease_name", "phraselist": [ "specific", "granule", "deficiency", "specific granule", "granule deficiency", "deficiency 1", "specific granule deficiency", "granule deficiency 1", "specific granule deficiency 1", "cebpe", "cebpe specific", "cebpe specific granule", "cebpe specific granule deficiency", "caused", "by", "mutation", "in", "deficiency caused", "caused by", "by mutation", "mutation in", "in cebpe", "granule deficiency caused", "deficiency caused by", "caused by mutation", "by mutation in", "mutation in cebpe", "specific granule deficiency caused", "granule deficiency caused by", "deficiency caused by mutation", "caused by mutation in", "by mutation in cebpe", "specific granule deficiency caused by", "granule deficiency caused by mutation", "deficiency caused by mutation in", "caused by mutation in cebpe", "sgd1" ] }, { "record_id": "MONDO:0044207", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044207", "record_type": "disease", "section": "proteins", "phraselist": [ "q15744", "q15744 1", "cebpe_human", "np_001796", "glycoprotein", "cebpe", "c/ebp", "epsilon", "c/ebp epsilon", "crp1", "imd108", "sgd1" ] }, { "record_id": "MONDO:0044207", "record_type": "disease", "section": "proteins", "phraselist": [ "ccaat/enhancer", "binding", "protein", "epsilon", "ccaat/enhancer binding", "binding protein", "protein epsilon", "ccaat/enhancer binding protein", "binding protein epsilon", "ccaat/enhancer binding protein epsilon", "c/ebp", "c/ebp epsilon", "protein c/ebp", "binding protein c/ebp", "ccaat/enhancer binding protein c/ebp" ] }, { "record_id": "MONDO:0044208", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044208", "0044208", "mim:617475", "617475" ] }, { "record_id": "MONDO:0044208", "record_type": "disease", "section": "disease_name", "phraselist": [ "specific", "granule", "deficiency", "specific granule", "granule deficiency", "deficiency 2", "specific granule deficiency", "granule deficiency 2", "specific granule deficiency 2", "sgd2" ] }, { "record_id": "MONDO:0044208", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044208", "record_type": "disease", "section": "proteins", "phraselist": [ "q92925", "q92925 1", "smrd2_human", "np_001091896", "glycoprotein", "smarcd2", "baf60b", "cracd2", "pro2451", "rsc6p", "sgd2" ] }, { "record_id": "MONDO:0044208", "record_type": "disease", "section": "proteins", "phraselist": [ "swi/snf", "related", "matrix", "associated", "actin", "dependent", "regulator", "of", "chromatin", "subfamily", "member", "swi/snf related", "related matrix", "matrix associated", "associated actin", "actin dependent", "dependent regulator", "regulator of", "of chromatin", "chromatin subfamily", "subfamily d", "d member", "member 2", "swi/snf related matrix", "related matrix associated", "matrix associated actin", "associated actin dependent", "actin dependent regulator", "dependent regulator of", "regulator of chromatin", "of chromatin subfamily", "chromatin subfamily d", "subfamily d member", "d member 2", "swi/snf related matrix associated", "related matrix associated actin", "matrix associated actin dependent", "associated actin dependent regulator", "actin dependent regulator of", "dependent regulator of chromatin", "regulator of chromatin subfamily", "of chromatin subfamily d", "chromatin subfamily d member", "subfamily d member 2", "swi/snf related matrix associated actin", "related matrix associated actin dependent", "matrix associated actin dependent regulator", "associated actin dependent regulator of", "actin dependent regulator of chromatin", "dependent regulator of chromatin subfamily", "regulator of chromatin subfamily d", "of chromatin subfamily d member", "chromatin subfamily d member 2", "60", "kda", "brg", "1/brm", "factor", "subunit", "60 kda", "kda brg", "brg 1/brm", "1/brm associated", "associated factor", "factor subunit", "subunit b", "60 kda brg", "kda brg 1/brm", "brg 1/brm associated", "1/brm associated factor", "associated factor subunit", "factor subunit b", "60 kda brg 1/brm", "kda brg 1/brm associated", "brg 1/brm associated factor", "1/brm associated factor subunit", "associated factor subunit b", "60 kda brg 1/brm associated", "kda brg 1/brm associated factor", "brg 1/brm associated factor subunit", "1/brm associated factor subunit b", "baf60b", "brg1", "60b", "brg1 associated", "factor 60b", "brg1 associated factor", "associated factor 60b", "brg1 associated factor 60b", "complex", "swi/snf complex", "complex 60", "kda subunit", "swi/snf complex 60", "complex 60 kda", "60 kda subunit", "kda subunit b", "swi/snf complex 60 kda", "complex 60 kda subunit", "60 kda subunit b", "swi/snf complex 60 kda subunit", "complex 60 kda subunit b", "isoform", "2 isoform", "isoform 1", "member 2 isoform", "2 isoform 1", "d member 2 isoform", "member 2 isoform 1", "subfamily d member 2 isoform", "d member 2 isoform 1", "swp73", "like", "protein", "swp73 like", "like protein", "swp73 like protein", "remodeling", "chromatin remodeling", "remodeling complex", "complex baf60b", "baf60b subunit", "chromatin remodeling complex", "remodeling complex baf60b", "complex baf60b subunit", "chromatin remodeling complex baf60b", "remodeling complex baf60b subunit", "chromatin remodeling complex baf60b subunit", "mammalian", "mammalian chromatin", "complex brg1", "mammalian chromatin remodeling", "remodeling complex brg1", "complex brg1 associated", "mammalian chromatin remodeling complex", "chromatin remodeling complex brg1", "remodeling complex brg1 associated", "complex brg1 associated factor", "mammalian chromatin remodeling complex brg1", "chromatin remodeling complex brg1 associated", "remodeling complex brg1 associated factor", "complex brg1 associated factor 60b" ] }, { "record_id": "MONDO:0044219", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044219", "0044219" ] }, { "record_id": "MONDO:0044219", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "duffy", "system", "obsolete blood", "blood group", "duffy system", "obsolete blood group", "group duffy", "blood group duffy", "group duffy system", "obsolete blood group duffy", "blood group duffy system", "fy" ] }, { "record_id": "MONDO:0044219", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044219", "record_type": "disease", "section": "proteins", "phraselist": [ "q16570", "q16570 1", "ackr1_human", "np_001116423", "glycoprotein", "ackr1", "ccbp1", "cd234", "darc/ackr1", "darc", "dfy", "fy", "gpd", "gpfy", "wbcq1" ] }, { "record_id": "MONDO:0044219", "record_type": "disease", "section": "proteins", "phraselist": [ "atypical", "chemokine", "receptor", "atypical chemokine", "chemokine receptor", "receptor 1", "atypical chemokine receptor", "chemokine receptor 1", "atypical chemokine receptor 1", "duffy", "antigen", "duffy antigen", "antigen chemokine", "duffy antigen chemokine", "antigen chemokine receptor", "duffy antigen chemokine receptor", "for", "chemokines", "antigen receptor", "receptor for", "for chemokines", "duffy antigen receptor", "antigen receptor for", "receptor for chemokines", "duffy antigen receptor for", "antigen receptor for chemokines", "duffy antigen receptor for chemokines", "antigen/chemokine", "duffy antigen/chemokine", "antigen/chemokine receptor", "duffy antigen/chemokine receptor", "blood", "group", "duffy blood", "blood group", "group antigen", "duffy blood group", "blood group antigen", "duffy blood group antigen", "system", "protein", "group system", "system protein", "blood group system", "group system protein", "duffy blood group system", "blood group system protein", "duffy blood group system protein", "group chemokine", "blood group chemokine", "group chemokine receptor", "duffy blood group chemokine", "blood group chemokine receptor", "fy", "glycoprotein", "fy glycoprotein", "glycoprotein d", "gpfy", "plasmodium", "vivax", "plasmodium vivax", "vivax receptor", "plasmodium vivax receptor", "isoform", "1 isoform", "isoform a", "receptor 1 isoform", "1 isoform a", "chemokine receptor 1 isoform", "receptor 1 isoform a", "atypical chemokine receptor 1 isoform", "chemokine receptor 1 isoform a", "bloodgroup", "bloodgroup fy", "fy protein", "bloodgroup fy protein", "solute", "carrier", "family", "29", "member", "augustine", "solute carrier", "carrier family", "family 29", "29 member", "member 1", "augustine blood", "solute carrier family", "carrier family 29", "family 29 member", "29 member 1", "1 augustine", "augustine blood group", "solute carrier family 29", "carrier family 29 member", "family 29 member 1", "member 1 augustine", "1 augustine blood", "solute carrier family 29 member", "carrier family 29 member 1", "29 member 1 augustine", "member 1 augustine blood", "1 augustine blood group" ] }, { "record_id": "MONDO:0044220", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044220", "0044220" ] }, { "record_id": "MONDO:0044220", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "system", "obsolete blood", "blood group", "1 system", "obsolete blood group", "group 1", "blood group 1", "group 1 system", "obsolete blood group 1", "blood group 1 system", "ii", "group ii", "blood group ii" ] }, { "record_id": "MONDO:0044220", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044220", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n0v5", "q8n0v5 1", "gcnt2_human", "np_001482", "glycoprotein", "gcnt2", "ccat", "ctrct13", "gcnt2c", "gcnt5", "ignt", "ii", "nacgt1", "nagct1", "ulg3", "ba360o19.2", "ba421m1.1" ] }, { "record_id": "MONDO:0044220", "record_type": "disease", "section": "proteins", "phraselist": [ "acetyllactosaminide", "beta", "acetylglucosaminyl", "transferase", "n acetyllactosaminide", "acetyllactosaminide beta", "beta 1", "1 6", "6 n", "n acetylglucosaminyl", "acetylglucosaminyl transferase", "n acetyllactosaminide beta", "acetyllactosaminide beta 1", "beta 1 6", "1 6 n", "6 n acetylglucosaminyl", "n acetylglucosaminyl transferase", "n acetyllactosaminide beta 1", "acetyllactosaminide beta 1 6", "beta 1 6 n", "1 6 n acetylglucosaminyl", "6 n acetylglucosaminyl transferase", "n acetyllactosaminide beta 1 6", "acetyllactosaminide beta 1 6 n", "beta 1 6 n acetylglucosaminyl", "1 6 n acetylglucosaminyl transferase", "2.4.1.150", "acetylglucosaminyltransferase", "i beta", "n acetylglucosaminyltransferase", "i beta 1", "6 n acetylglucosaminyltransferase", "i beta 1 6", "1 6 n acetylglucosaminyltransferase", "i beta 1 6 n", "beta 1 6 n acetylglucosaminyltransferase", "branching", "enzyme", "i branching", "branching enzyme", "i branching enzyme", "ignt", "ii", "blood", "group", "ii blood", "blood group", "ii blood group", "isoform", "transferase isoform", "isoform b", "acetylglucosaminyl transferase isoform", "transferase isoform b", "n acetylglucosaminyl transferase isoform", "acetylglucosaminyl transferase isoform b", "6 n acetylglucosaminyl transferase isoform", "n acetylglucosaminyl transferase isoform b", "acetylglucosaminyltransferase 2", "n acetylglucosaminyltransferase 2", "6 n acetylglucosaminyltransferase 2", "1 6 n acetylglucosaminyltransferase 2", "glucosaminyl", "acetyl", "n acetyl", "transferase 2", "i blood", "glucosaminyl n", "acetyl transferase", "2 i", "enzyme i", "i blood group", "glucosaminyl n acetyl", "n acetyl transferase", "acetyl transferase 2", "transferase 2 i", "2 i branching", "branching enzyme i", "enzyme i blood", "n acetyl transferase 2", "transferase 2 i branching", "2 i branching enzyme", "i branching enzyme i", "branching enzyme i blood", "enzyme i blood group" ] }, { "record_id": "MONDO:0044221", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044221", "0044221" ] }, { "record_id": "MONDO:0044221", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "lutheran", "inhibitor", "obsolete blood", "blood group", "lutheran inhibitor", "obsolete blood group", "group lutheran", "blood group lutheran", "group lutheran inhibitor", "obsolete blood group lutheran", "blood group lutheran inhibitor", "inlu" ] }, { "record_id": "MONDO:0044221", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044221", "record_type": "disease", "section": "proteins", "phraselist": [ "q13351", "q13351 1", "klf1_human", "np_006554", "glycoprotein", "klf1", "cdan4a", "cdan4b", "eklf/klf1", "eklf" ] }, { "record_id": "MONDO:0044221", "record_type": "disease", "section": "proteins", "phraselist": [ "krueppel", "like", "factor", "krueppel like", "like factor", "factor 1", "krueppel like factor", "like factor 1", "krueppel like factor 1", "eklf", "erythroid", "transcription", "erythroid krueppel", "like transcription", "transcription factor", "erythroid krueppel like", "krueppel like transcription", "like transcription factor", "erythroid krueppel like transcription", "krueppel like transcription factor", "erythroid krueppel like transcription factor", "kruppel", "kruppel like", "kruppel like factor", "kruppel like factor 1", "erythroid kruppel", "erythroid kruppel like", "erythroid kruppel like factor", "specific", "erythroid specific", "specific transcription", "factor eklf", "erythroid specific transcription", "specific transcription factor", "transcription factor eklf", "erythroid specific transcription factor", "specific transcription factor eklf", "erythroid specific transcription factor eklf" ] }, { "record_id": "MONDO:0044222", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044222", "0044222" ] }, { "record_id": "MONDO:0044222", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "p1pk", "system", "obsolete blood", "blood group", "p1pk system", "obsolete blood group", "group p1pk", "blood group p1pk", "group p1pk system", "obsolete blood group p1pk", "blood group p1pk system", "phenotype", "p k", "system p", "k phenotype", "p1pk system p", "system p k", "p k phenotype", "p1pk system p k", "p 2", "2 phenotype", "system p 2", "p 2 phenotype", "p1pk system p 2", "p phenotype", "system p phenotype", "p1pk system p phenotype" ] }, { "record_id": "MONDO:0044222", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044222", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044222", "record_type": "disease", "section": "proteins", "phraselist": [ "q9npc4", "q9npc4 1", "a4gat_human", "np_001304967", "glycoprotein", "a4galt", "a14galt", "a4galt1", "gb3s", "p k", "p1pk", "p1", "pk", "o75752", "o75752 1", "b3gl1_human", "np_001033717", "b3galnt1", "galnac", "t1", "3 galnac", "galnac t1", "3 galnac t1", "galtase", "3 galtase", "b3galant1", "b3galt3", "glct3", "glob", "gb4cer", "pro1074", "b3gal", "t3", "b3gal t3", "beta", "beta 1", "gx", "beta 3", "3 gx", "gx t3", "beta 3 gx", "3 gx t3", "beta 3 gx t3", "beta3gal", "beta3gal t3", "galt3" ] }, { "record_id": "MONDO:0044222", "record_type": "disease", "section": "proteins", "phraselist": [ "lactosylceramide", "alpha", "galactosyltransferase", "lactosylceramide 4", "4 alpha", "alpha galactosyltransferase", "lactosylceramide 4 alpha", "4 alpha galactosyltransferase", "lactosylceramide 4 alpha galactosyltransferase", "2.4.1.228", "acetylglucosaminyltransferase", "alpha 1", "1 4", "4 n", "n acetylglucosaminyltransferase", "alpha 1 4", "1 4 n", "4 n acetylglucosaminyltransferase", "alpha 1 4 n", "1 4 n acetylglucosaminyltransferase", "alpha 1 4 n acetylglucosaminyltransferase", "4 galactosyltransferase", "1 4 galactosyltransferase", "alpha 1 4 galactosyltransferase", "alpha4gal", "t1", "alpha4gal t1", "cd77", "synthase", "cd77 synthase", "gb3", "gb3 synthase", "globotriaosylceramide", "globotriaosylceramide synthase", "blood", "group", "one", "antigen", "p blood", "blood group", "p one", "one antigen", "p blood group", "group p", "p one antigen", "blood group p", "group p one", "p blood group p", "blood group p one", "group p one antigen", "antigen p", "one antigen p", "antigen p blood", "p one antigen p", "one antigen p blood", "antigen p blood group", "p k", "antigen synthase", "k antigen", "p k antigen", "k antigen synthase", "p k antigen synthase", "p1/pk", "p1/pk synthase", "udp", "galactose:beta", "galactosyl", "beta1", "udp galactose:beta", "galactose:beta d", "d galactosyl", "galactosyl beta1", "beta1 r", "r 4", "alpha d", "d galactosyltransferase", "udp galactose:beta d", "galactose:beta d galactosyl", "d galactosyl beta1", "galactosyl beta1 r", "beta1 r 4", "r 4 alpha", "4 alpha d", "alpha d galactosyltransferase", "udp galactose:beta d galactosyl", "galactose:beta d galactosyl beta1", "d galactosyl beta1 r", "galactosyl beta1 r 4", "beta1 r 4 alpha", "r 4 alpha d", "4 alpha d galactosyltransferase", "udp galactose:beta d galactosyl beta1", "galactose:beta d galactosyl beta1 r", "d galactosyl beta1 r 4", "galactosyl beta1 r 4 alpha", "beta1 r 4 alpha d", "r 4 alpha d galactosyltransferase", "galactosyltransferase p", "4 galactosyltransferase p", "galactosyltransferase p blood", "1 4 galactosyltransferase p", "4 galactosyltransferase p blood", "galactosyltransferase p blood group", "14", "alpha 14", "14 galactosyltransferase", "alpha 14 galactosyltransferase", "galnac:beta", "acetylgalactosaminyltransferase", "udp galnac:beta", "galnac:beta 1", "1 3", "3 n", "n acetylgalactosaminyltransferase", "acetylgalactosaminyltransferase 1", "udp galnac:beta 1", "galnac:beta 1 3", "1 3 n", "3 n acetylgalactosaminyltransferase", "n acetylgalactosaminyltransferase 1", "udp galnac:beta 1 3", "galnac:beta 1 3 n", "1 3 n acetylgalactosaminyltransferase", "3 n acetylgalactosaminyltransferase 1", "udp galnac:beta 1 3 n", "galnac:beta 1 3 n acetylgalactosaminyltransferase", "1 3 n acetylgalactosaminyltransferase 1", "2.4.1.79", "beta", "galnac", "beta 1", "3 galnac", "galnac t1", "beta 1 3", "1 3 galnac", "3 galnac t1", "beta 1 3 galnac", "1 3 galnac t1", "beta 1 3 galnac t1", "galtase", "3 galtase", "galtase 3", "1 3 galtase", "3 galtase 3", "beta 1 3 galtase", "1 3 galtase 3", "beta 1 3 galtase 3", "3 galactosyltransferase", "galactosyltransferase 3", "1 3 galactosyltransferase", "3 galactosyltransferase 3", "beta 1 3 galactosyltransferase", "1 3 galactosyltransferase 3", "beta 1 3 galactosyltransferase 3", "gx", "t3", "beta 3", "3 gx", "gx t3", "beta 3 gx", "3 gx t3", "beta 3 gx t3", "beta3gal", "beta3gal t3", "beta3galt3", "galactosylgalactosylglucosylceramide", "acetyl", "galactosaminyltransferase", "galactosylgalactosylglucosylceramide beta", "beta d", "d acetyl", "acetyl galactosaminyltransferase", "galactosylgalactosylglucosylceramide beta d", "beta d acetyl", "d acetyl galactosaminyltransferase", "galactosylgalactosylglucosylceramide beta d acetyl", "beta d acetyl galactosaminyltransferase", "galactosylgalactosylglucosylceramide beta d acetyl galactosaminyltransferase", "globoside", "globoside synthase", "p antigen", "p antigen synthase", "group globoside", "blood group globoside", "p blood group globoside", "gal:betaglcnac", "polypeptide", "udp gal:betaglcnac", "gal:betaglcnac beta", "polypeptide 3", "globoside blood", "udp gal:betaglcnac beta", "gal:betaglcnac beta 1", "galactosyltransferase polypeptide", "3 globoside", "globoside blood group", "udp gal:betaglcnac beta 1", "gal:betaglcnac beta 1 3", "3 galactosyltransferase polypeptide", "galactosyltransferase polypeptide 3", "polypeptide 3 globoside", "3 globoside blood", "udp gal:betaglcnac beta 1 3", "gal:betaglcnac beta 1 3 galactosyltransferase", "1 3 galactosyltransferase polypeptide", "3 galactosyltransferase polypeptide 3", "polypeptide 3 globoside blood", "3 globoside blood group", "isoform", "1 isoform", "isoform b", "acetylgalactosaminyltransferase 1 isoform", "1 isoform b", "n acetylgalactosaminyltransferase 1 isoform", "acetylgalactosaminyltransferase 1 isoform b", "3 n acetylgalactosaminyltransferase 1 isoform", "n acetylgalactosaminyltransferase 1 isoform b", "galnac:betaglcnac", "udp galnac:betaglcnac", "galnac:betaglcnac beta", "3 galactosaminyltransferase", "polypeptide 1", "udp galnac:betaglcnac beta", "galnac:betaglcnac beta 1", "1 3 galactosaminyltransferase", "galactosaminyltransferase polypeptide", "1 globoside", "udp galnac:betaglcnac beta 1", "galnac:betaglcnac beta 1 3", "beta 1 3 galactosaminyltransferase", "3 galactosaminyltransferase polypeptide", "galactosaminyltransferase polypeptide 1", "polypeptide 1 globoside", "1 globoside blood", "udp galnac:betaglcnac beta 1 3", "galnac:betaglcnac beta 1 3 galactosaminyltransferase", "1 3 galactosaminyltransferase polypeptide", "3 galactosaminyltransferase polypeptide 1", "polypeptide 1 globoside blood", "1 globoside blood group", "acetylgalactosamine:globotriaosylceramide", "udp n", "n acetylgalactosamine:globotriaosylceramide", "acetylgalactosamine:globotriaosylceramide beta", "udp n acetylgalactosamine:globotriaosylceramide", "n acetylgalactosamine:globotriaosylceramide beta", "acetylgalactosamine:globotriaosylceramide beta 1", "udp n acetylgalactosamine:globotriaosylceramide beta", "n acetylgalactosamine:globotriaosylceramide beta 1", "acetylgalactosamine:globotriaosylceramide beta 1 3", "beta 1 3 n", "udp n acetylgalactosamine:globotriaosylceramide beta 1", "n acetylgalactosamine:globotriaosylceramide beta 1 3", "acetylgalactosamine:globotriaosylceramide beta 1 3 n", "beta 1 3 n acetylgalactosaminyltransferase", "b3gal", "b3gal t3", "brainiac1", "globotriaosylceramide 3", "3 beta", "beta n", "globotriaosylceramide 3 beta", "3 beta n", "beta n acetylgalactosaminyltransferase", "globotriaosylceramide 3 beta n", "3 beta n acetylgalactosaminyltransferase", "globotriaosylceramide 3 beta n acetylgalactosaminyltransferase" ] }, { "record_id": "MONDO:0044223", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044223", "0044223" ] }, { "record_id": "MONDO:0044223", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "radin", "blood", "group", "antigen", "obsolete radin", "radin blood", "blood group", "group antigen", "obsolete radin blood", "radin blood group", "blood group antigen", "obsolete radin blood group", "radin blood group antigen", "obsolete radin blood group antigen", "group radin", "blood group radin", "rd" ] }, { "record_id": "MONDO:0044223", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044223", "record_type": "disease", "section": "proteins", "phraselist": [ "q96pl5", "q96pl5 1", "ermap_human", "np_001017922", "glycoprotein", "ermap", "btn5", "pro2801", "rd", "sc" ] }, { "record_id": "MONDO:0044223", "record_type": "disease", "section": "proteins", "phraselist": [ "erythroid", "membrane", "associated", "protein", "erythroid membrane", "membrane associated", "associated protein", "erythroid membrane associated", "membrane associated protein", "erythroid membrane associated protein", "radin", "blood", "group", "rd", "radin blood", "blood group", "radin blood group", "group rd", "blood group rd", "radin blood group rd", "antigen", "group antigen", "blood group antigen", "radin blood group antigen", "scianna", "sc", "scianna blood", "scianna blood group", "group sc", "blood group sc", "scianna blood group sc", "scianna blood group antigen", "precursor", "protein precursor", "associated protein precursor", "membrane associated protein precursor", "erythroid membrane associated protein precursor", "hermap" ] }, { "record_id": "MONDO:0044224", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044224", "0044224" ] }, { "record_id": "MONDO:0044224", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "apocrine", "gland", "secretion", "variation", "1n", "obsolete apocrine", "apocrine gland", "gland secretion", "variation 1n", "obsolete apocrine gland", "apocrine gland secretion", "secretion variation", "obsolete apocrine gland secretion", "gland secretion variation", "secretion variation 1n", "apocrine gland secretion variation", "gland secretion variation 1n", "axillary", "odor", "in", "axillary odor", "variation in", "odor variation", "axillary odor variation", "odor variation in", "axillary odor variation in", "colostrum", "colostrum secretion", "colostrum secretion variation", "secretion variation in", "colostrum secretion variation in", "earwax", "wet/dry", "earwax wet/dry" ] }, { "record_id": "MONDO:0044224", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044224", "record_type": "disease", "section": "proteins", "phraselist": [ "q96j66", "q96j66 1", "mrp8_human", "np_115972", "glycoprotein", "abcc11", "ewwd", "mrp8", "ww" ] }, { "record_id": "MONDO:0044224", "record_type": "disease", "section": "proteins", "phraselist": [ "atp", "binding", "cassette", "sub", "family", "member", "11", "atp binding", "binding cassette", "cassette sub", "sub family", "family c", "c member", "member 11", "atp binding cassette", "binding cassette sub", "cassette sub family", "sub family c", "family c member", "c member 11", "atp binding cassette sub", "binding cassette sub family", "cassette sub family c", "sub family c member", "family c member 11", "atp binding cassette sub family", "binding cassette sub family c", "cassette sub family c member", "sub family c member 11", "7.6.2.2", "7.6.2.3", "protein", "c11", "cassette protein", "protein c11", "binding cassette protein", "cassette protein c11", "atp binding cassette protein", "binding cassette protein c11", "atp binding cassette protein c11", "isoform", "11 isoform", "isoform a", "member 11 isoform", "11 isoform a", "c member 11 isoform", "member 11 isoform a", "family c member 11 isoform", "c member 11 isoform a", "transporter", "mrp8", "cassette transporter", "transporter mrp8", "binding cassette transporter", "cassette transporter mrp8", "atp binding cassette transporter", "binding cassette transporter mrp8", "atp binding cassette transporter mrp8", "transporter sub", "cassette transporter sub", "transporter sub family", "binding cassette transporter sub", "cassette transporter sub family", "transporter sub family c", "atp binding cassette transporter sub", "binding cassette transporter sub family", "cassette transporter sub family c", "transporter sub family c member", "cftr/mrp", "c cftr/mrp", "family c cftr/mrp", "cftr/mrp member", "sub family c cftr/mrp", "cftr/mrp member 11", "multidrug", "resistance", "associated", "multidrug resistance", "resistance associated", "associated protein", "protein 8", "multidrug resistance associated", "resistance associated protein", "associated protein 8", "multidrug resistance associated protein", "resistance associated protein 8", "multidrug resistance associated protein 8", "multi", "multi resistance", "resistance protein", "multi resistance protein", "resistance protein 8", "multi resistance protein 8" ] }, { "record_id": "MONDO:0044248", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044248", "0044248" ] }, { "record_id": "MONDO:0044248", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "thiourea", "tasting", "obsolete thiourea", "thiourea tasting", "obsolete thiourea tasting", "phenylthiocarbamide", "phenylthiocarbamide tasting", "thiot" ] }, { "record_id": "MONDO:0044248", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044248", "record_type": "disease", "section": "proteins", "phraselist": [ "p59533", "p59533 1", "t2r38_human", "np_789787", "glycoprotein", "tas2r38", "ptc", "t2r38", "t2r61", "thiot" ] }, { "record_id": "MONDO:0044248", "record_type": "disease", "section": "proteins", "phraselist": [ "taste", "receptor", "type", "member", "38", "taste receptor", "receptor type", "type 2", "2 member", "member 38", "taste receptor type", "receptor type 2", "type 2 member", "2 member 38", "taste receptor type 2", "receptor type 2 member", "type 2 member 38", "taste receptor type 2 member", "receptor type 2 member 38", "ptc", "bitter", "ptc bitter", "bitter taste", "ptc bitter taste", "bitter taste receptor", "ptc bitter taste receptor", "t2r38", "t2r61", "61", "member 61", "2 member 61", "type 2 member 61", "receptor type 2 member 61" ] }, { "record_id": "MONDO:0044252", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044252", "0044252" ] }, { "record_id": "MONDO:0044252", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "skin/hair/eye", "pigmentation", "variation", "in", "obsolete skin/hair/eye", "skin/hair/eye pigmentation", "variation in", "obsolete skin/hair/eye pigmentation", "pigmentation variation", "in 6", "skin/hair/eye pigmentation variation", "pigmentation variation in", "variation in 6", "obsolete skin/hair/eye pigmentation variation", "skin/hair/eye pigmentation variation in", "blond/brown", "hair", "pigmentation 6", "blond/brown hair", "skin/hair/eye pigmentation 6", "6 blond/brown", "pigmentation 6 blond/brown", "6 blond/brown hair", "skin/hair/eye pigmentation 6 blond/brown", "pigmentation 6 blond/brown hair", "blue/green", "eyes", "blue/green eyes", "6 blue/green", "pigmentation 6 blue/green", "6 blue/green eyes", "skin/hair/eye pigmentation 6 blue/green", "pigmentation 6 blue/green eyes", "shep6" ] }, { "record_id": "MONDO:0044252", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044252", "record_type": "disease", "section": "proteins", "phraselist": [ "q8nff2", "q8nff2 1", "nckx4_human", "np_705932", "glycoprotein", "slc24a4", "ai2a5", "nckx4", "shep6" ] }, { "record_id": "MONDO:0044252", "record_type": "disease", "section": "proteins", "phraselist": [ "sodium/potassium/calcium", "exchanger", "sodium/potassium/calcium exchanger", "exchanger 4", "sodium/potassium/calcium exchanger 4", "na", "/k", "/ca", "2+", "exchange", "protein", "na +", "+ /k", "/k +", "+ /ca", "/ca 2+", "exchange protein", "protein 4", "na + /k", "+ /k +", "/k + /ca", "+ /ca 2+", "2+ exchange", "exchange protein 4", "na + /k +", "+ /k + /ca", "/k + /ca 2+", "/ca 2+ exchange", "2+ exchange protein", "na + /k + /ca", "+ /k + /ca 2+", "+ /ca 2+ exchange", "/ca 2+ exchange protein", "2+ exchange protein 4", "na/ca", "na/ca k", "k exchanger", "na/ca k exchanger", "k exchanger 4", "na/ca k exchanger 4", "solute", "carrier", "family", "24", "member", "solute carrier", "carrier family", "family 24", "24 member", "member 4", "solute carrier family", "carrier family 24", "family 24 member", "24 member 4", "solute carrier family 24", "carrier family 24 member", "family 24 member 4", "solute carrier family 24 member", "carrier family 24 member 4", "isoform", "precursor", "4 isoform", "isoform 1", "1 precursor", "exchanger 4 isoform", "4 isoform 1", "isoform 1 precursor", "sodium/potassium/calcium exchanger 4 isoform", "exchanger 4 isoform 1", "4 isoform 1 precursor", "sodium/potassium/calcium exchanger 4 isoform 1", "exchanger 4 isoform 1 precursor", "24 sodium/potassium/calcium", "family 24 sodium/potassium/calcium", "24 sodium/potassium/calcium exchanger", "exchanger member", "carrier family 24 sodium/potassium/calcium", "family 24 sodium/potassium/calcium exchanger", "sodium/potassium/calcium exchanger member", "exchanger member 4" ] }, { "record_id": "MONDO:0044255", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044255", "0044255" ] }, { "record_id": "MONDO:0044255", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "skin/hair/eye", "pigmentation", "variation", "in", "obsolete skin/hair/eye", "skin/hair/eye pigmentation", "variation in", "obsolete skin/hair/eye pigmentation", "pigmentation variation", "in 1", "skin/hair/eye pigmentation variation", "pigmentation variation in", "variation in 1", "obsolete skin/hair/eye pigmentation variation", "skin/hair/eye pigmentation variation in", "blond/brown", "hair", "pigmentation 1", "blond/brown hair", "skin/hair/eye pigmentation 1", "1 blond/brown", "pigmentation 1 blond/brown", "1 blond/brown hair", "skin/hair/eye pigmentation 1 blond/brown", "pigmentation 1 blond/brown hair", "blue/nonblue", "eyes", "blue/nonblue eyes", "1 blue/nonblue", "pigmentation 1 blue/nonblue", "1 blue/nonblue eyes", "skin/hair/eye pigmentation 1 blue/nonblue", "pigmentation 1 blue/nonblue eyes", "shep1" ] }, { "record_id": "MONDO:0044255", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044255", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044255", "record_type": "disease", "section": "proteins", "phraselist": [ "q04671", "q04671 1", "p_human", "np_000266", "glycoprotein", "oca2", "bey1", "bey2", "bey", "boca", "d15s12", "eycl2", "eycl3", "eycl", "hcl3", "ped", "shep1", "slc13b1", "o95714", "o95714 1", "herc2_human", "np_004658", "herc2", "d15f37s1", "mrt38", "jdf2", "p528" ] }, { "record_id": "MONDO:0044255", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "p protein", "melanocyte", "specific", "transporter", "melanocyte specific", "specific transporter", "transporter protein", "melanocyte specific transporter", "specific transporter protein", "melanocyte specific transporter protein", "isoform", "protein isoform", "isoform 1", "p protein isoform", "protein isoform 1", "p protein isoform 1", "pink", "eyed", "dilution", "homolog", "pink eyed", "eyed dilution", "dilution protein", "protein homolog", "pink eyed dilution", "eyed dilution protein", "dilution protein homolog", "pink eyed dilution protein", "eyed dilution protein homolog", "pink eyed dilution protein homolog", "eye", "color", "central", "brown", "eye color", "color 2", "central brown", "eye color 2", "2 central", "color 2 central", "2 central brown", "eye color 2 central", "color 2 central brown", "color 3", "eye color 3", "3 brown", "color 3 brown", "eye color 3 brown", "hair", "hair color", "hair color 3", "hair color 3 brown", "oculocutaneous", "albinism", "ii", "mouse", "oculocutaneous albinism", "albinism ii", "pink eye", "eye dilution", "dilution homolog", "oculocutaneous albinism ii", "ii pink", "pink eye dilution", "eye dilution homolog", "homolog mouse", "albinism ii pink", "ii pink eye", "pink eye dilution homolog", "dilution homolog mouse", "oculocutaneous albinism ii pink", "albinism ii pink eye", "ii pink eye dilution", "eye dilution homolog mouse", "total", "iris", "pigmentation", "total brown", "brown iris", "iris pigmentation", "total brown iris", "brown iris pigmentation", "total brown iris pigmentation", "e3", "ubiquitin", "ligase", "herc2", "e3 ubiquitin", "ubiquitin protein", "protein ligase", "ligase herc2", "e3 ubiquitin protein", "ubiquitin protein ligase", "protein ligase herc2", "e3 ubiquitin protein ligase", "ubiquitin protein ligase herc2", "e3 ubiquitin protein ligase herc2", "2.3.2.26", "hect", "domain", "and", "rcc1", "like", "containing", "hect domain", "domain and", "and rcc1", "rcc1 like", "like domain", "domain containing", "containing protein", "protein 2", "hect domain and", "domain and rcc1", "and rcc1 like", "rcc1 like domain", "like domain containing", "domain containing protein", "containing protein 2", "hect domain and rcc1", "domain and rcc1 like", "and rcc1 like domain", "rcc1 like domain containing", "like domain containing protein", "domain containing protein 2", "hect domain and rcc1 like", "domain and rcc1 like domain", "and rcc1 like domain containing", "rcc1 like domain containing protein", "like domain containing protein 2", "type", "transferase", "hect type", "type e3", "ubiquitin transferase", "transferase herc2", "hect type e3", "type e3 ubiquitin", "e3 ubiquitin transferase", "ubiquitin transferase herc2", "hect type e3 ubiquitin", "type e3 ubiquitin transferase", "e3 ubiquitin transferase herc2", "hect type e3 ubiquitin transferase", "type e3 ubiquitin transferase herc2", "rld", "and rld", "rld 2", "domain and rld", "and rld 2", "hect domain and rld", "domain and rld 2", "hect domain and rld 2", "probable", "probable e3", "probable e3 ubiquitin", "probable e3 ubiquitin protein", "probable e3 ubiquitin protein ligase" ] }, { "record_id": "MONDO:0044256", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044256", "0044256" ] }, { "record_id": "MONDO:0044256", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "skin/hair/eye", "pigmentation", "variation", "in", "obsolete skin/hair/eye", "skin/hair/eye pigmentation", "variation in", "obsolete skin/hair/eye pigmentation", "pigmentation variation", "in 5", "skin/hair/eye pigmentation variation", "pigmentation variation in", "variation in 5", "obsolete skin/hair/eye pigmentation variation", "skin/hair/eye pigmentation variation in", "black/nonblack", "hair", "pigmentation 5", "black/nonblack hair", "skin/hair/eye pigmentation 5", "5 black/nonblack", "pigmentation 5 black/nonblack", "5 black/nonblack hair", "skin/hair/eye pigmentation 5 black/nonblack", "pigmentation 5 black/nonblack hair", "dark/fair", "skin", "dark/fair skin", "5 dark/fair", "pigmentation 5 dark/fair", "5 dark/fair skin", "skin/hair/eye pigmentation 5 dark/fair", "pigmentation 5 dark/fair skin", "dark/light", "eyes", "dark/light eyes", "5 dark/light", "pigmentation 5 dark/light", "5 dark/light eyes", "skin/hair/eye pigmentation 5 dark/light", "pigmentation 5 dark/light eyes", "shep5" ] }, { "record_id": "MONDO:0044256", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044256", "record_type": "disease", "section": "proteins", "phraselist": [ "q9umx9", "q9umx9 1", "s45a2_human", "np_001284346", "glycoprotein", "slc45a2", "1a1", "aim1", "matp", "oca4", "shep5" ] }, { "record_id": "MONDO:0044256", "record_type": "disease", "section": "proteins", "phraselist": [ "membrane", "associated", "transporter", "protein", "membrane associated", "associated transporter", "transporter protein", "membrane associated transporter", "associated transporter protein", "membrane associated transporter protein", "melanoma", "antigen", "aim1", "melanoma antigen", "antigen aim1", "melanoma antigen aim1", "aim", "protein aim", "aim 1", "protein aim 1", "solute", "carrier", "family", "45", "member", "solute carrier", "carrier family", "family 45", "45 member", "member 2", "solute carrier family", "carrier family 45", "family 45 member", "45 member 2", "solute carrier family 45", "carrier family 45 member", "family 45 member 2", "solute carrier family 45 member", "carrier family 45 member 2", "in", "antigen in", "in melanoma", "melanoma 1", "antigen in melanoma", "in melanoma 1", "antigen in melanoma 1", "isoform", "protein isoform", "isoform c", "transporter protein isoform", "protein isoform c", "associated transporter protein isoform", "transporter protein isoform c", "membrane associated transporter protein isoform", "associated transporter protein isoform c", "oculocutaneous", "albinism", "type", "oculocutaneous albinism", "albinism type", "type 4", "oculocutaneous albinism type", "albinism type 4", "oculocutaneous albinism type 4", "underwhite" ] }, { "record_id": "MONDO:0044257", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044257", "0044257" ] }, { "record_id": "MONDO:0044257", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "lutheran", "null", "obsolete lutheran", "lutheran null", "obsolete lutheran null", "blood", "group", "blood group", "group lutheran", "blood group lutheran", "group lutheran null", "blood group lutheran null" ] }, { "record_id": "MONDO:0044257", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044257", "record_type": "disease", "section": "proteins", "phraselist": [ "p50895", "p50895 1", "bcam_human", "np_001013275", "glycoprotein", "bcam", "au", "cam", "b cam", "cd239", "f8/g253", "lu", "msk19" ] }, { "record_id": "MONDO:0044257", "record_type": "disease", "section": "proteins", "phraselist": [ "basal", "cell", "adhesion", "molecule", "basal cell", "cell adhesion", "adhesion molecule", "basal cell adhesion", "cell adhesion molecule", "basal cell adhesion molecule", "auberger", "antigen", "auberger b", "b antigen", "auberger b antigen", "cam", "surface", "glycoprotein", "b cam", "cam cell", "cell surface", "surface glycoprotein", "b cam cell", "cam cell surface", "cell surface glycoprotein", "b cam cell surface", "cam cell surface glycoprotein", "b cam cell surface glycoprotein", "b cell", "b cell adhesion", "b cell adhesion molecule", "f8/g253", "f8/g253 antigen", "lutheran", "lutheran antigen", "blood", "group", "lutheran blood", "blood group", "group glycoprotein", "lutheran blood group", "blood group glycoprotein", "lutheran blood group glycoprotein", "variant", "luga", "group variant", "variant luga", "blood group variant", "group variant luga", "lutheran blood group variant", "blood group variant luga", "lutheran blood group variant luga", "lu", "and", "au", "groups", "lu and", "and au", "au blood", "blood groups", "molecule lu", "lu and au", "and au blood", "au blood groups", "adhesion molecule lu", "molecule lu and", "lu and au blood", "and au blood groups", "cell adhesion molecule lu", "adhesion molecule lu and", "molecule lu and au", "lu and au blood groups", "isoform", "precursor", "molecule isoform", "isoform 2", "2 precursor", "adhesion molecule isoform", "molecule isoform 2", "isoform 2 precursor", "cell adhesion molecule isoform", "adhesion molecule isoform 2", "molecule isoform 2 precursor", "basal cell adhesion molecule isoform", "cell adhesion molecule isoform 2", "adhesion molecule isoform 2 precursor" ] }, { "record_id": "MONDO:0044259", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044259", "0044259" ] }, { "record_id": "MONDO:0044259", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "skin/hair/eye", "pigmentation", "variation", "in", "obsolete skin/hair/eye", "skin/hair/eye pigmentation", "variation in", "obsolete skin/hair/eye pigmentation", "pigmentation variation", "in 2", "skin/hair/eye pigmentation variation", "pigmentation variation in", "variation in 2", "obsolete skin/hair/eye pigmentation variation", "skin/hair/eye pigmentation variation in", "uv", "induced", "skin", "damage", "uv induced", "induced skin", "skin damage", "uv induced skin", "induced skin damage", "uv induced skin damage", "blond", "hair/fair", "pigmentation 2", "blond hair/fair", "hair/fair skin", "skin/hair/eye pigmentation 2", "2 blond", "blond hair/fair skin", "pigmentation 2 blond", "2 blond hair/fair", "skin/hair/eye pigmentation 2 blond", "pigmentation 2 blond hair/fair", "2 blond hair/fair skin", "red", "red hair/fair", "2 red", "red hair/fair skin", "pigmentation 2 red", "2 red hair/fair", "skin/hair/eye pigmentation 2 red", "pigmentation 2 red hair/fair", "2 red hair/fair skin", "shep2" ] }, { "record_id": "MONDO:0044259", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044259", "record_type": "disease", "section": "proteins", "phraselist": [ "q01726", "q01726 1", "mshr_human", "np_002377", "glycoprotein", "mc1r", "cmm5", "msh", "msh r", "mshr", "shep2" ] }, { "record_id": "MONDO:0044259", "record_type": "disease", "section": "proteins", "phraselist": [ "melanocyte", "stimulating", "hormone", "receptor", "melanocyte stimulating", "stimulating hormone", "hormone receptor", "melanocyte stimulating hormone", "stimulating hormone receptor", "melanocyte stimulating hormone receptor", "mc1", "mc1 r", "msh", "msh r", "melanocortin", "melanocortin receptor", "receptor 1", "melanocortin receptor 1", "alpha", "alpha melanocyte", "alpha melanocyte stimulating", "alpha melanocyte stimulating hormone", "alpha melanocyte stimulating hormone receptor", "melanotropin", "melanotropin receptor" ] }, { "record_id": "MONDO:0044270", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044270", "0044270" ] }, { "record_id": "MONDO:0044270", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "bilirubin", "serum", "level", "of", "quantitative", "trait", "locus", "obsolete bilirubin", "serum level", "level of", "quantitative trait", "trait locus", "locus 1", "bilirubin serum", "serum level of", "of quantitative", "quantitative trait locus", "trait locus 1", "obsolete bilirubin serum", "bilirubin serum level", "level of quantitative", "of quantitative trait", "quantitative trait locus 1", "obsolete bilirubin serum level", "bilirubin serum level of", "serum level of quantitative", "level of quantitative trait", "of quantitative trait locus", "qtl1", "of qtl1", "level of qtl1", "serum level of qtl1", "biliqtl1" ] }, { "record_id": "MONDO:0044270", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044270", "record_type": "disease", "section": "proteins", "phraselist": [ "p22309", "p22309 1", "ud11_human", "np_000454", "glycoprotein", "ugt1a1", "biliqtl1", "gnt1", "hug", "br1", "hug br1", "udpgt", "udpgt 1", "1 1", "udpgt 1 1", "ugt1a", "ugt1" ] }, { "record_id": "MONDO:0044270", "record_type": "disease", "section": "proteins", "phraselist": [ "udp", "glucuronosyltransferase", "1a1", "udp glucuronosyltransferase", "glucuronosyltransferase 1a1", "udp glucuronosyltransferase 1a1", "2.4.1.17", "bilirubin", "specific", "udpgt", "isozyme", "bilirubin specific", "specific udpgt", "udpgt isozyme", "isozyme 1", "bilirubin specific udpgt", "specific udpgt isozyme", "udpgt isozyme 1", "bilirubin specific udpgt isozyme", "specific udpgt isozyme 1", "bilirubin specific udpgt isozyme 1", "family", "polypeptide", "a1", "glucuronosyltransferase 1", "1 family", "polypeptide a1", "udp glucuronosyltransferase 1", "glucuronosyltransferase 1 family", "family polypeptide", "udp glucuronosyltransferase 1 family", "1 family polypeptide", "family polypeptide a1", "glucuronosyltransferase 1 family polypeptide", "1 family polypeptide a1", "glycosyltransferase", "udp glycosyltransferase", "glycosyltransferase 1", "udp glycosyltransferase 1", "glycosyltransferase 1 family", "udp glycosyltransferase 1 family", "glycosyltransferase 1 family polypeptide", "1 1", "glucuronosyltransferase 1 1", "udp glucuronosyltransferase 1 1", "1 a", "glucuronosyltransferase 1 a", "udp glucuronosyltransferase 1 a", "1a", "isoform", "glucuronosyltransferase 1a", "1a isoform", "isoform 1", "udp glucuronosyltransferase 1a", "glucuronosyltransferase 1a isoform", "1a isoform 1", "udp glucuronosyltransferase 1a isoform", "glucuronosyltransferase 1a isoform 1", "udp glucuronosyltransferase 1a isoform 1", "precursor", "1a1 precursor", "glucuronosyltransferase 1a1 precursor", "udp glucuronosyltransferase 1a1 precursor", "udpgt 1", "udpgt 1 1", "ugt", "ugt 1a", "ugt1*1", "ugt1", "01", "ugt1 01", "ugt1.1", "ugt1a1", "glucuronosyltranserase", "bilirubin udp", "udp glucuronosyltranserase", "bilirubin udp glucuronosyltranserase", "bilirubin udp glucuronosyltransferase", "bilirubin udp glucuronosyltransferase 1", "bilirubin udp glucuronosyltransferase 1 1", "glucuronosyltransferase isozyme", "udp glucuronosyltransferase isozyme", "glucuronosyltransferase isozyme 1", "bilirubin udp glucuronosyltransferase isozyme", "udp glucuronosyltransferase isozyme 1", "bilirubin udp glucuronosyltransferase isozyme 1", "hug", "br1", "hug br1" ] }, { "record_id": "MONDO:0044271", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044271", "0044271", "mim:601884", "601884" ] }, { "record_id": "MONDO:0044271", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "bone", "mineral", "density", "quantitative", "trait", "locus", "obsolete bone", "bone mineral", "mineral density", "density quantitative", "quantitative trait", "trait locus", "locus 1", "obsolete bone mineral", "bone mineral density", "mineral density quantitative", "density quantitative trait", "quantitative trait locus", "trait locus 1", "obsolete bone mineral density", "bone mineral density quantitative", "mineral density quantitative trait", "density quantitative trait locus", "quantitative trait locus 1", "obsolete bone mineral density quantitative", "bone mineral density quantitative trait", "mineral density quantitative trait locus", "density quantitative trait locus 1", "variability", "density variability", "variability 1", "mineral density variability", "density variability 1", "bone mineral density variability", "mineral density variability 1", "bone mineral density variability 1", "bmnd1", "high", "mass", "high bone", "bone mass", "mass trait", "high bone mass", "bone mass trait", "high bone mass trait" ] }, { "record_id": "MONDO:0044271", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044271", "record_type": "disease", "section": "proteins", "phraselist": [ "o75197", "o75197 1", "lrp5_human", "np_001278831", "glycoprotein", "lrp5", "bmnd1", "evr1", "evr4", "hbm", "lr3", "lrp", "lrp 5", "lrp 7", "lrp7", "oppg", "ops", "opta1", "pcld4", "vbch2" ] }, { "record_id": "MONDO:0044271", "record_type": "disease", "section": "proteins", "phraselist": [ "low", "density", "lipoprotein", "receptor", "related", "protein", "low density", "density lipoprotein", "lipoprotein receptor", "receptor related", "related protein", "protein 5", "low density lipoprotein", "density lipoprotein receptor", "lipoprotein receptor related", "receptor related protein", "related protein 5", "low density lipoprotein receptor", "density lipoprotein receptor related", "lipoprotein receptor related protein", "receptor related protein 5", "low density lipoprotein receptor related", "density lipoprotein receptor related protein", "lipoprotein receptor related protein 5", "lrp", "lrp 5", "lrp 7", "protein 7", "related protein 7", "receptor related protein 7", "lipoprotein receptor related protein 7", "isoform", "5 isoform", "isoform 2", "protein 5 isoform", "5 isoform 2", "related protein 5 isoform", "protein 5 isoform 2", "receptor related protein 5 isoform", "related protein 5 isoform 2" ] }, { "record_id": "MONDO:0044272", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044272", "0044272" ] }, { "record_id": "MONDO:0044272", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "body", "mass", "index", "quantitative", "trait", "locus", "obsolete body", "body mass", "mass index", "index quantitative", "quantitative trait", "trait locus", "locus 9", "obsolete body mass", "body mass index", "mass index quantitative", "index quantitative trait", "quantitative trait locus", "trait locus 9", "obsolete body mass index", "body mass index quantitative", "mass index quantitative trait", "index quantitative trait locus", "quantitative trait locus 9", "obsolete body mass index quantitative", "body mass index quantitative trait", "mass index quantitative trait locus", "index quantitative trait locus 9", "obesity", "severe", "susceptibility", "to", "bmiq9", "susceptibility to", "obesity severe", "severe susceptibility", "to bmiq9", "severe susceptibility to", "susceptibility to bmiq9", "obesity severe susceptibility" ] }, { "record_id": "MONDO:0044272", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044272", "record_type": "disease", "section": "proteins", "phraselist": [ "p41968", "p41968 1", "mc3r_human", "np_063941", "glycoprotein", "mc3r", "bmiq9", "mc3", "mc3 r", "ob20", "oqtl" ] }, { "record_id": "MONDO:0044272", "record_type": "disease", "section": "proteins", "phraselist": [ "melanocortin", "receptor", "melanocortin receptor", "receptor 3", "melanocortin receptor 3", "mc3", "mc3 r", "obesity", "quantitative", "trait", "locus", "obesity quantitative", "quantitative trait", "trait locus", "obesity quantitative trait", "quantitative trait locus", "obesity quantitative trait locus" ] }, { "record_id": "MONDO:0044273", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044273", "0044273" ] }, { "record_id": "MONDO:0044273", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "hypertension", "diastolic", "resistance", "to", "obsolete hypertension", "resistance to", "hypertension diastolic", "diastolic resistance", "obsolete hypertension diastolic", "diastolic resistance to", "hypertension diastolic resistance" ] }, { "record_id": "MONDO:0044273", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044273", "record_type": "disease", "section": "proteins", "phraselist": [ "q16558", "q16558 1", "kcmb1_human", "np_004128", "glycoprotein", "kcnmb1", "bkbeta1", "vca", "beta", "k vca", "vca beta", "k vca beta", "slo", "slo beta", "hbeta1", "hslo", "hslo beta", "beta 1", "vca beta 1", "k vca beta 1", "slo beta 1" ] }, { "record_id": "MONDO:0044273", "record_type": "disease", "section": "proteins", "phraselist": [ "calcium", "activated", "potassium", "channel", "subunit", "beta", "calcium activated", "activated potassium", "potassium channel", "channel subunit", "subunit beta", "beta 1", "calcium activated potassium", "activated potassium channel", "potassium channel subunit", "channel subunit beta", "subunit beta 1", "calcium activated potassium channel", "activated potassium channel subunit", "potassium channel subunit beta", "channel subunit beta 1", "calcium activated potassium channel subunit", "activated potassium channel subunit beta", "potassium channel subunit beta 1", "bk", "bk channel", "channel beta", "beta subunit", "subunit 1", "bk channel beta", "channel beta subunit", "beta subunit 1", "bk channel beta subunit", "channel beta subunit 1", "bk channel beta subunit 1", "bk channel subunit", "bk channel subunit beta", "bk channel subunit beta 1", "bkbeta1", "bkbeta", "subfamily", "subfamily m", "m subunit", "channel subfamily", "subfamily m subunit", "m subunit beta", "potassium channel subfamily", "channel subfamily m", "subfamily m subunit beta", "m subunit beta 1", "activated potassium channel subfamily", "potassium channel subfamily m", "channel subfamily m subunit", "subfamily m subunit beta 1", "charybdotoxin", "receptor", "charybdotoxin receptor", "receptor subunit", "charybdotoxin receptor subunit", "receptor subunit beta", "charybdotoxin receptor subunit beta", "receptor subunit beta 1", "charybdotoxin receptor subunit beta 1", "hbeta1", "vca", "k vca", "vca beta", "k vca beta", "vca beta 1", "k vca beta 1", "maxi", "maxi k", "k channel", "maxi k channel", "k channel subunit", "maxi k channel subunit", "k channel subunit beta", "maxi k channel subunit beta", "k channel subunit beta 1", "maxik", "maxik channel", "maxik channel beta", "maxik channel beta subunit", "maxik channel beta subunit 1", "slo", "slo beta", "slo beta 1", "big", "big potassium", "big potassium channel", "potassium channel beta", "big potassium channel beta", "potassium channel beta subunit", "big potassium channel beta subunit", "potassium channel beta subunit 1", "large", "conductance", "ca2+", "k+", "large conductance", "conductance ca2+", "ca2+ activated", "activated k+", "k+ channel", "1 subunit", "large conductance ca2+", "conductance ca2+ activated", "ca2+ activated k+", "activated k+ channel", "k+ channel beta", "channel beta 1", "beta 1 subunit", "large conductance ca2+ activated", "conductance ca2+ activated k+", "ca2+ activated k+ channel", "activated k+ channel beta", "k+ channel beta 1", "channel beta 1 subunit", "large conductance ca2+ activated k+", "conductance ca2+ activated k+ channel", "ca2+ activated k+ channel beta", "activated k+ channel beta 1", "k+ channel beta 1 subunit", "regulatory", "m regulatory", "regulatory beta", "subfamily m regulatory", "m regulatory beta", "regulatory beta subunit", "channel subfamily m regulatory", "subfamily m regulatory beta", "m regulatory beta subunit", "regulatory beta subunit 1", "potassium channel subfamily m regulatory", "channel subfamily m regulatory beta", "subfamily m regulatory beta subunit", "m regulatory beta subunit 1", "member", "potassium large", "conductance calcium", "activated channel", "beta member", "member 1", "potassium large conductance", "large conductance calcium", "conductance calcium activated", "calcium activated channel", "m beta", "beta member 1", "potassium large conductance calcium", "large conductance calcium activated", "conductance calcium activated channel", "activated channel subfamily", "subfamily m beta", "m beta member", "potassium large conductance calcium activated", "large conductance calcium activated channel", "calcium activated channel subfamily", "activated channel subfamily m", "subfamily m beta member", "m beta member 1" ] }, { "record_id": "MONDO:0044276", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044276", "0044276" ] }, { "record_id": "MONDO:0044276", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "skin/hair/eye", "pigmentation", "variation", "in", "11", "obsolete skin/hair/eye", "skin/hair/eye pigmentation", "variation in", "obsolete skin/hair/eye pigmentation", "pigmentation variation", "in 11", "skin/hair/eye pigmentation variation", "pigmentation variation in", "variation in 11", "obsolete skin/hair/eye pigmentation variation", "skin/hair/eye pigmentation variation in", "melanesian", "blond", "hair", "melanesian blond", "blond hair", "11 melanesian", "melanesian blond hair", "11 melanesian blond", "in 11 melanesian", "11 melanesian blond hair", "shep11" ] }, { "record_id": "MONDO:0044276", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044276", "record_type": "disease", "section": "proteins", "phraselist": [ "p17643", "p17643 1", "tyrp1_human", "np_000541", "glycoprotein", "tyrp1", "cas2", "catb", "gp75", "oca3", "trp1", "trp", "tyrp", "tyrrp", "protein", "b protein" ] }, { "record_id": "MONDO:0044276", "record_type": "disease", "section": "proteins", "phraselist": [ "dihydroxyindole", "carboxylic", "acid", "oxidase", "5 6", "6 dihydroxyindole", "dihydroxyindole 2", "2 carboxylic", "carboxylic acid", "acid oxidase", "5 6 dihydroxyindole", "6 dihydroxyindole 2", "dihydroxyindole 2 carboxylic", "2 carboxylic acid", "carboxylic acid oxidase", "5 6 dihydroxyindole 2", "6 dihydroxyindole 2 carboxylic", "dihydroxyindole 2 carboxylic acid", "2 carboxylic acid oxidase", "5 6 dihydroxyindole 2 carboxylic", "6 dihydroxyindole 2 carboxylic acid", "dihydroxyindole 2 carboxylic acid oxidase", "1.14.18.", "precursor", "oxidase precursor", "acid oxidase precursor", "carboxylic acid oxidase precursor", "2 carboxylic acid oxidase precursor", "catalase", "catalase b", "dhica", "dhica oxidase", "glycoprotein", "75", "glycoprotein 75", "melanoma", "antigen", "gp75", "melanoma antigen", "antigen gp75", "melanoma antigen gp75", "trp", "trp 1", "trp1", "tyrosinase", "related", "protein", "tyrosinase related", "related protein", "protein 1", "tyrosinase related protein", "related protein 1", "tyrosinase related protein 1" ] }, { "record_id": "MONDO:0044277", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044277", "0044277" ] }, { "record_id": "MONDO:0044277", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "uric", "acid", "concentration", "serum", "quantitative", "trait", "locus", "obsolete uric", "uric acid", "acid concentration", "quantitative trait", "trait locus", "locus 4", "obsolete uric acid", "uric acid concentration", "concentration serum", "serum quantitative", "quantitative trait locus", "trait locus 4", "obsolete uric acid concentration", "acid concentration serum", "serum quantitative trait", "quantitative trait locus 4", "uric acid concentration serum", "concentration serum quantitative", "serum quantitative trait locus", "qtl4", "serum qtl4", "concentration serum qtl4", "uaqtl4" ] }, { "record_id": "MONDO:0044277", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044277", "record_type": "disease", "section": "proteins", "phraselist": [ "o00476", "o00476 1", "npt4_human", "np_001091956", "glycoprotein", "slc17a3", "gout4", "npt4", "uaqtl4" ] }, { "record_id": "MONDO:0044277", "record_type": "disease", "section": "proteins", "phraselist": [ "sodium", "dependent", "phosphate", "transport", "protein", "sodium dependent", "dependent phosphate", "phosphate transport", "transport protein", "protein 4", "sodium dependent phosphate", "dependent phosphate transport", "phosphate transport protein", "transport protein 4", "sodium dependent phosphate transport", "dependent phosphate transport protein", "phosphate transport protein 4", "sodium dependent phosphate transport protein", "dependent phosphate transport protein 4", "npt4", "na", "/pi", "cotransporter", "na +", "+ /pi", "/pi cotransporter", "cotransporter 4", "na + /pi", "+ /pi cotransporter", "/pi cotransporter 4", "na + /pi cotransporter", "+ /pi cotransporter 4", "na + /pi cotransporter 4", "sodium/phosphate", "sodium/phosphate cotransporter", "sodium/phosphate cotransporter 4", "solute", "carrier", "family", "17", "member", "solute carrier", "carrier family", "family 17", "17 member", "member 3", "solute carrier family", "carrier family 17", "family 17 member", "17 member 3", "solute carrier family 17", "carrier family 17 member", "family 17 member 3", "solute carrier family 17 member", "carrier family 17 member 3", "isoform", "4 isoform", "isoform a", "protein 4 isoform", "4 isoform a", "transport protein 4 isoform", "protein 4 isoform a", "phosphate transport protein 4 isoform", "transport protein 4 isoform a", "organic", "anion", "transporter", "organic anion", "anion transporter", "17 organic", "organic anion transporter", "family 17 organic", "17 organic anion", "transporter member", "carrier family 17 organic", "family 17 organic anion", "17 organic anion transporter", "anion transporter member", "transporter member 3", "sodium phosphate", "17 sodium", "family 17 sodium", "17 sodium phosphate", "phosphate member", "carrier family 17 sodium", "family 17 sodium phosphate", "sodium phosphate member", "phosphate member 3" ] }, { "record_id": "MONDO:0044280", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044280", "0044280" ] }, { "record_id": "MONDO:0044280", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "glycerol", "quantitative", "trait", "locus", "obsolete glycerol", "glycerol quantitative", "quantitative trait", "trait locus", "obsolete glycerol quantitative", "glycerol quantitative trait", "quantitative trait locus", "obsolete glycerol quantitative trait", "glycerol quantitative trait locus", "obsolete glycerol quantitative trait locus", "glycqtl" ] }, { "record_id": "MONDO:0044280", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044280", "record_type": "disease", "section": "proteins", "phraselist": [ "o14520", "o14520 1", "aqp7_human", "np_001161", "aqp7", "aqp7l", "aqp9", "aqpap", "glycqtl" ] }, { "record_id": "MONDO:0044280", "record_type": "disease", "section": "proteins", "phraselist": [ "aquaporin", "aquaporin 7", "aqp", "aqp 7", "aqpap", "aquaglyceroporin", "aquaglyceroporin 7", "adipose", "aquaporin adipose", "like", "7 like", "aquaporin 7 like", "isoform", "7 isoform", "isoform 1", "aquaporin 7 isoform", "7 isoform 1", "aquaporin 7 isoform 1" ] }, { "record_id": "MONDO:0044281", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044281", "0044281" ] }, { "record_id": "MONDO:0044281", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "c3hex", "ability", "to", "smell", "obsolete c3hex", "ability to", "to smell", "c3hex ability", "ability to smell", "obsolete c3hex ability", "c3hex ability to", "obsolete c3hex ability to", "c3hex ability to smell" ] }, { "record_id": "MONDO:0044281", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044281", "record_type": "disease", "section": "proteins", "phraselist": [ "o76001", "o76001 1", "or2j3_human", "np_001005216", "glycoprotein", "or2j3", "6m1", "6m1 3", "c3hexs", "hs6m1", "hs6m1 3", "or6", "16", "or6 16", "or6 6", "or6.3.6", "orl671" ] }, { "record_id": "MONDO:0044281", "record_type": "disease", "section": "proteins", "phraselist": [ "olfactory", "receptor", "2j3", "olfactory receptor", "receptor 2j3", "olfactory receptor 2j3", "hs6m1", "hs6m1 3", "or6", "or6 6", "receptor 6", "6 6", "olfactory receptor 6", "receptor 6 6", "olfactory receptor 6 6", "16", "receptor or6", "or6 16", "olfactory receptor or6", "receptor or6 16", "olfactory receptor or6 16" ] }, { "record_id": "MONDO:0044282", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044282", "0044282" ] }, { "record_id": "MONDO:0044282", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "vel", "system", "obsolete blood", "blood group", "vel system", "obsolete blood group", "group vel", "blood group vel", "group vel system", "obsolete blood group vel", "blood group vel system" ] }, { "record_id": "MONDO:0044282", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044282", "record_type": "disease", "section": "proteins", "phraselist": [ "b2ruz4", "b2ruz4 1", "smim1_human", "np_001157196", "smim1", "vel" ] }, { "record_id": "MONDO:0044282", "record_type": "disease", "section": "proteins", "phraselist": [ "small", "integral", "membrane", "protein", "small integral", "integral membrane", "membrane protein", "protein 1", "small integral membrane", "integral membrane protein", "membrane protein 1", "small integral membrane protein", "integral membrane protein 1", "small integral membrane protein 1", "vel", "blood", "group", "antigen", "vel blood", "blood group", "group antigen", "vel blood group", "blood group antigen", "vel blood group antigen", "bloodgroup", "bloodgroup vel", "vel protein", "bloodgroup vel protein" ] }, { "record_id": "MONDO:0044283", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044283", "0044283" ] }, { "record_id": "MONDO:0044283", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "body", "mass", "index", "quantitative", "trait", "locus", "18", "obsolete body", "body mass", "mass index", "index quantitative", "quantitative trait", "trait locus", "locus 18", "obsolete body mass", "body mass index", "mass index quantitative", "index quantitative trait", "quantitative trait locus", "trait locus 18", "obsolete body mass index", "body mass index quantitative", "mass index quantitative trait", "index quantitative trait locus", "quantitative trait locus 18", "obsolete body mass index quantitative", "body mass index quantitative trait", "mass index quantitative trait locus", "index quantitative trait locus 18", "obesity", "susceptibility", "to", "bmiq18", "susceptibility to", "obesity susceptibility", "to bmiq18", "obesity susceptibility to", "susceptibility to bmiq18" ] }, { "record_id": "MONDO:0044283", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044283", "record_type": "disease", "section": "proteins", "phraselist": [ "q96g30", "q96g30 1", "mrap2_human", "np_001333470", "glycoprotein", "mrap2", "c6orf117", "ba51g5.2" ] }, { "record_id": "MONDO:0044283", "record_type": "disease", "section": "proteins", "phraselist": [ "melanocortin", "receptor", "accessory", "protein", "melanocortin 2", "2 receptor", "receptor accessory", "accessory protein", "protein 2", "melanocortin 2 receptor", "2 receptor accessory", "receptor accessory protein", "accessory protein 2", "melanocortin 2 receptor accessory", "2 receptor accessory protein", "receptor accessory protein 2", "melanocortin 2 receptor accessory protein", "2 receptor accessory protein 2", "mc2r", "mc2r accessory", "mc2r accessory protein", "mc2r accessory protein 2", "isoform", "2 isoform", "isoform 2", "protein 2 isoform", "2 isoform 2", "accessory protein 2 isoform", "protein 2 isoform 2", "receptor accessory protein 2 isoform", "accessory protein 2 isoform 2" ] }, { "record_id": "MONDO:0044284", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044284", "0044284" ] }, { "record_id": "MONDO:0044284", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "blood", "group", "gerbich", "system", "obsolete blood", "blood group", "gerbich system", "obsolete blood group", "group gerbich", "blood group gerbich", "group gerbich system", "obsolete blood group gerbich", "blood group gerbich system", "ge" ] }, { "record_id": "MONDO:0044284", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044284", "record_type": "disease", "section": "proteins", "phraselist": [ "p04921", "p04921 1", "glpc_human", "np_001243513", "glycoprotein", "gypc", "cd236r", "cd236", "ge", "glpc", "gpc", "gpd", "gypd", "pas", "2'", "pas 2'", "pas 2" ] }, { "record_id": "MONDO:0044284", "record_type": "disease", "section": "proteins", "phraselist": [ "glycophorin", "glycophorin c", "gpd", "gerbich", "antigen", "gerbich antigen", "blood", "group", "gerbich blood", "blood group", "group antigen", "gerbich blood group", "blood group antigen", "gerbich blood group antigen", "glycoconnectin", "glycophorin d", "glycoprotein", "beta", "glycoprotein beta", "pas", "2'", "pas 2'", "sialoglycoprotein", "sialoglycoprotein d", "isoform", "c isoform", "isoform 3", "glycophorin c isoform", "c isoform 3", "glycophorin c isoform 3" ] }, { "record_id": "MONDO:0044301", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044301", "0044301", "mim:617349", "617349" ] }, { "record_id": "MONDO:0044301", "record_type": "disease", "section": "disease_name", "phraselist": [ "aortic", "aneurysm", "familial", "thoracic", "11", "susceptibility", "to", "aortic aneurysm", "familial thoracic", "thoracic 11", "susceptibility to", "aneurysm familial", "familial thoracic 11", "11 susceptibility", "aortic aneurysm familial", "aneurysm familial thoracic", "thoracic 11 susceptibility", "11 susceptibility to", "aortic aneurysm familial thoracic", "aneurysm familial thoracic 11", "familial thoracic 11 susceptibility", "thoracic 11 susceptibility to", "aat11" ] }, { "record_id": "MONDO:0044301", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044301", "record_type": "disease", "section": "proteins", "phraselist": [ "q13461", "q13461 1", "foxe3_human", "np_036318", "glycoprotein", "foxe3", "aat11", "asgd2", "catc3", "ctrct34", "fkhl12", "freac8" ] }, { "record_id": "MONDO:0044301", "record_type": "disease", "section": "proteins", "phraselist": [ "forkhead", "box", "protein", "e3", "forkhead box", "box protein", "protein e3", "forkhead box protein", "box protein e3", "forkhead box protein e3", "freac", "freac 8", "related", "fkhl12", "forkhead related", "related protein", "protein fkhl12", "forkhead related protein", "related protein fkhl12", "forkhead related protein fkhl12", "transcription", "factor", "related transcription", "transcription factor", "factor 8", "forkhead related transcription", "related transcription factor", "transcription factor 8", "forkhead related transcription factor", "related transcription factor 8", "forkhead related transcription factor 8", "drosophila", "homolog", "like", "12", "homolog like", "like 12", "forkhead drosophila", "drosophila homolog", "homolog like 12", "drosophila homolog like", "forkhead drosophila homolog", "drosophila homolog like 12" ] }, { "record_id": "MONDO:0044303", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044303", "0044303", "mim:617364", "617364" ] }, { "record_id": "MONDO:0044303", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "heart", "defects", "and", "ectodermal", "dysplasia", "congenital heart", "heart defects", "defects and", "and ectodermal", "ectodermal dysplasia", "congenital heart defects", "heart defects and", "defects and ectodermal", "and ectodermal dysplasia", "congenital heart defects and", "heart defects and ectodermal", "defects and ectodermal dysplasia", "congenital heart defects and ectodermal", "heart defects and ectodermal dysplasia", "chded" ] }, { "record_id": "MONDO:0044303", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044303", "record_type": "disease", "section": "proteins", "phraselist": [ "q15139", "q15139 1", "kpcd1_human", "np_002733", "prkd1", "chded", "pkc", "mu", "pkc mu", "pkcm", "pkd1", "pkd", "prkcm" ] }, { "record_id": "MONDO:0044303", "record_type": "disease", "section": "proteins", "phraselist": [ "serine/threonine", "protein", "kinase", "d1", "serine/threonine protein", "protein kinase", "kinase d1", "serine/threonine protein kinase", "protein kinase d1", "serine/threonine protein kinase d1", "2.7.11.13", "mu", "type", "kinase c", "c mu", "mu type", "protein kinase c", "kinase c mu", "c mu type", "protein kinase c mu", "kinase c mu type", "protein kinase c mu type", "kinase d", "protein kinase d", "npkc", "npkc d1", "npkc mu", "isoform", "d1 isoform", "isoform 2", "kinase d1 isoform", "d1 isoform 2", "protein kinase d1 isoform", "kinase d1 isoform 2", "serine/threonine protein kinase d1 isoform", "protein kinase d1 isoform 2" ] }, { "record_id": "MONDO:0044304", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044304", "0044304", "mim:617384", "617384" ] }, { "record_id": "MONDO:0044304", "record_type": "disease", "section": "disease_name", "phraselist": [ "hyperphenylalaninemia", "due", "to", "dnajc12", "deficiency", "hyperphenylalaninemia due", "due to", "to dnajc12", "dnajc12 deficiency", "hyperphenylalaninemia due to", "due to dnajc12", "to dnajc12 deficiency", "hyperphenylalaninemia due to dnajc12", "due to dnajc12 deficiency", "hyperphenylalaninemia due to dnajc12 deficiency", "hpanbh4", "mild", "non", "bh4", "deficient", "non bh4", "bh4 deficient", "hyperphenylalaninemia mild", "mild non", "non bh4 deficient", "mild non bh4", "hyperphenylalaninemia mild non", "mild non bh4 deficient" ] }, { "record_id": "MONDO:0044304", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044304", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ukb3", "q9ukb3 1", "djc12_human", "np_068572", "glycoprotein", "dnajc12", "hpanbh4", "jdp1" ] }, { "record_id": "MONDO:0044304", "record_type": "disease", "section": "proteins", "phraselist": [ "dnaj", "homolog", "subfamily", "member", "12", "dnaj homolog", "homolog subfamily", "subfamily c", "c member", "member 12", "dnaj homolog subfamily", "homolog subfamily c", "subfamily c member", "c member 12", "dnaj homolog subfamily c", "homolog subfamily c member", "subfamily c member 12", "dnaj homolog subfamily c member", "homolog subfamily c member 12", "hsp40", "dnaj hsp40", "hsp40 homolog", "dnaj hsp40 homolog", "hsp40 homolog subfamily", "domain", "containing", "protein", "jdp1", "j domain", "domain containing", "containing protein", "protein 1", "j domain containing", "domain containing protein", "containing protein 1", "1 jdp1", "j domain containing protein", "domain containing protein 1", "protein 1 jdp1", "j domain containing protein 1", "containing protein 1 jdp1", "domain protein", "j domain protein", "domain protein 1", "j domain protein 1", "isoform", "12 isoform", "isoform a", "member 12 isoform", "12 isoform a", "c member 12 isoform", "member 12 isoform a", "subfamily c member 12 isoform", "c member 12 isoform a" ] }, { "record_id": "MONDO:0044306", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044306", "0044306", "mim:617393", "617393" ] }, { "record_id": "MONDO:0044306", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "epilepsy", "cataracts", "feeding", "difficulties", "and", "delayed", "brain", "myelination", "neurodevelopmental disorder", "disorder with", "with epilepsy", "feeding difficulties", "and delayed", "delayed brain", "brain myelination", "neurodevelopmental disorder with", "disorder with epilepsy", "epilepsy cataracts", "cataracts feeding", "difficulties and", "and delayed brain", "delayed brain myelination", "neurodevelopmental disorder with epilepsy", "with epilepsy cataracts", "cataracts feeding difficulties", "feeding difficulties and", "difficulties and delayed", "and delayed brain myelination", "disorder with epilepsy cataracts", "epilepsy cataracts feeding", "feeding difficulties and delayed", "difficulties and delayed brain", "necfm" ] }, { "record_id": "MONDO:0044306", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044306", "record_type": "disease", "section": "proteins", "phraselist": [ "q96re7", "q96re7 1", "nacc1_human", "np_443108", "glycoprotein", "nacc1", "bend8", "btbd14b", "btbd30", "nac", "nac 1", "nac1", "necfm" ] }, { "record_id": "MONDO:0044306", "record_type": "disease", "section": "proteins", "phraselist": [ "nucleus", "accumbens", "associated", "protein", "nucleus accumbens", "accumbens associated", "associated protein", "protein 1", "nucleus accumbens associated", "accumbens associated protein", "associated protein 1", "nucleus accumbens associated protein", "accumbens associated protein 1", "nucleus accumbens associated protein 1", "ben", "domain", "containing", "ben domain", "domain containing", "containing 8", "ben domain containing", "domain containing 8", "ben domain containing 8", "btb/poz", "14b", "btb/poz domain", "containing protein", "protein 14b", "btb/poz domain containing", "domain containing protein", "containing protein 14b", "btb/poz domain containing protein", "domain containing protein 14b", "btb/poz domain containing protein 14b", "nac", "nac 1", "and", "btb", "poz", "associated 1", "ben and", "and btb", "accumbens associated 1", "1 ben", "ben and btb", "btb poz", "poz domain", "nucleus accumbens associated 1", "associated 1 ben", "1 ben and", "and btb poz", "poz domain containing", "accumbens associated 1 ben", "associated 1 ben and", "1 ben and btb", "ben and btb poz", "btb poz domain", "transcriptional", "repressor", "nac1", "transcriptional repressor", "repressor nac1", "transcriptional repressor nac1" ] }, { "record_id": "MONDO:0044312", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044312", "0044312", "mim:617425", "617425" ] }, { "record_id": "MONDO:0044312", "record_type": "disease", "section": "disease_name", "phraselist": [ "immunoskeletal", "dysplasia", "with", "neurodevelopmental", "abnormalities", "immunoskeletal dysplasia", "dysplasia with", "with neurodevelopmental", "neurodevelopmental abnormalities", "immunoskeletal dysplasia with", "dysplasia with neurodevelopmental", "with neurodevelopmental abnormalities", "immunoskeletal dysplasia with neurodevelopmental", "dysplasia with neurodevelopmental abnormalities", "immunoskeletal dysplasia with neurodevelopmental abnormalities", "isdna" ] }, { "record_id": "MONDO:0044312", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044312", "record_type": "disease", "section": "proteins", "phraselist": [ "o43909", "o43909 1", "extl3_human", "np_001431", "glycoprotein", "extl3", "botv", "extl1l", "extr1", "isdna", "kiaa0519", "regr", "rpr" ] }, { "record_id": "MONDO:0044312", "record_type": "disease", "section": "proteins", "phraselist": [ "exostosin", "like", "exostosin like", "like 3", "exostosin like 3", "2.4.1.223", "ext", "related", "ext related", "related 1", "ext related 1", "protein", "related protein", "protein 1", "ext related protein", "related protein 1", "ext related protein 1", "glucuronyl", "galactosyl", "proteoglycan", "alpha", "acetylglucosaminyltransferase", "glucuronyl galactosyl", "galactosyl proteoglycan", "proteoglycan 4", "4 alpha", "alpha n", "n acetylglucosaminyltransferase", "glucuronyl galactosyl proteoglycan", "galactosyl proteoglycan 4", "proteoglycan 4 alpha", "4 alpha n", "alpha n acetylglucosaminyltransferase", "glucuronyl galactosyl proteoglycan 4", "galactosyl proteoglycan 4 alpha", "proteoglycan 4 alpha n", "4 alpha n acetylglucosaminyltransferase", "glucuronyl galactosyl proteoglycan 4 alpha", "galactosyl proteoglycan 4 alpha n", "proteoglycan 4 alpha n acetylglucosaminyltransferase", "hereditary", "multiple", "exostoses", "gene", "isolog", "hereditary multiple", "multiple exostoses", "exostoses gene", "gene isolog", "hereditary multiple exostoses", "multiple exostoses gene", "exostoses gene isolog", "hereditary multiple exostoses gene", "multiple exostoses gene isolog", "hereditary multiple exostoses gene isolog", "exostosis", "multiple exostosis", "exostosis like", "like protein", "protein 3", "multiple exostosis like", "exostosis like protein", "like protein 3", "multiple exostosis like protein", "exostosis like protein 3", "multiple exostosis like protein 3", "putative", "tumor", "suppressor", "extl3", "putative tumor", "tumor suppressor", "suppressor protein", "protein extl3", "putative tumor suppressor", "tumor suppressor protein", "suppressor protein extl3", "putative tumor suppressor protein", "tumor suppressor protein extl3", "putative tumor suppressor protein extl3", "epididymis", "secretory", "sperm", "binding", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "exostoses multiple", "multiple like", "multiple like 3", "exostoses multiple like", "exostosin tumor", "tumor like", "exostosin tumor like", "tumor like 3", "exostosin tumor like 3", "reg", "receptor", "reg receptor" ] }, { "record_id": "MONDO:0044316", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044316", "0044316", "mim:617441", "617441" ] }, { "record_id": "MONDO:0044316", "record_type": "disease", "section": "disease_name", "phraselist": [ "thrombocytopenia", "anemia", "and", "myelofibrosis", "and myelofibrosis", "thrombocytopenia anemia", "anemia and", "anemia and myelofibrosis", "thrombocytopenia anemia and", "thamy" ] }, { "record_id": "MONDO:0044316", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044316", "record_type": "disease", "section": "proteins", "phraselist": [ "o95866", "o95866 1", "g6b_human", "np_079536", "glycoprotein", "mpig6b", "c6orf25", "g6b", "g6b b", "ng31", "thamy" ] }, { "record_id": "MONDO:0044316", "record_type": "disease", "section": "proteins", "phraselist": [ "megakaryocyte", "and", "platelet", "inhibitory", "receptor", "g6b", "megakaryocyte and", "and platelet", "platelet inhibitory", "inhibitory receptor", "receptor g6b", "megakaryocyte and platelet", "and platelet inhibitory", "platelet inhibitory receptor", "inhibitory receptor g6b", "megakaryocyte and platelet inhibitory", "and platelet inhibitory receptor", "platelet inhibitory receptor g6b", "megakaryocyte and platelet inhibitory receptor", "and platelet inhibitory receptor g6b", "protein", "protein g6b", "immunoglobulin", "immunoglobulin receptor", "isoform", "precursor", "g6b isoform", "isoform g6b", "g6b a", "a precursor", "receptor g6b isoform", "g6b isoform g6b", "isoform g6b a", "g6b a precursor", "inhibitory receptor g6b isoform", "receptor g6b isoform g6b", "g6b isoform g6b a", "isoform g6b a precursor", "platelet inhibitory receptor g6b isoform", "inhibitory receptor g6b isoform g6b", "receptor g6b isoform g6b a", "g6b isoform g6b a precursor" ] }, { "record_id": "MONDO:0044318", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044318", "0044318", "mim:617450", "617450" ] }, { "record_id": "MONDO:0044318", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "gastrointestinal", "difficulties", "and", "high", "pain", "threshold", "intellectual developmental", "developmental disorder", "disorder with", "with gastrointestinal", "gastrointestinal difficulties", "difficulties and", "and high", "high pain", "pain threshold", "intellectual developmental disorder", "developmental disorder with", "disorder with gastrointestinal", "with gastrointestinal difficulties", "gastrointestinal difficulties and", "difficulties and high", "and high pain", "high pain threshold", "intellectual developmental disorder with", "developmental disorder with gastrointestinal", "disorder with gastrointestinal difficulties", "with gastrointestinal difficulties and", "gastrointestinal difficulties and high", "difficulties and high pain", "and high pain threshold", "intellectual developmental disorder with gastrointestinal", "developmental disorder with gastrointestinal difficulties", "disorder with gastrointestinal difficulties and", "with gastrointestinal difficulties and high", "gastrointestinal difficulties and high pain", "difficulties and high pain threshold", "jansen", "de", "vries", "syndrome", "jansen de", "de vries", "vries syndrome", "jansen de vries", "de vries syndrome", "jansen de vries syndrome", "iddgip" ] }, { "record_id": "MONDO:0044318", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044318", "record_type": "disease", "section": "proteins", "phraselist": [ "o15297", "o15297 1", "ppm1d_human", "np_003611", "glycoprotein", "ppm1d", "iddgip", "jdvs", "pp2c", "delta", "pp2c delta", "wip1" ] }, { "record_id": "MONDO:0044318", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "phosphatase", "1d", "protein phosphatase", "phosphatase 1d", "protein phosphatase 1d", "3.1.3.16", "pp2c", "delta", "pp2c delta", "2c", "isoform", "phosphatase 2c", "2c isoform", "isoform delta", "protein phosphatase 2c", "phosphatase 2c isoform", "2c isoform delta", "protein phosphatase 2c isoform", "phosphatase 2c isoform delta", "protein phosphatase 2c isoform delta", "magnesium", "dependent", "phosphatase magnesium", "magnesium dependent", "dependent 1", "1 delta", "protein phosphatase magnesium", "phosphatase magnesium dependent", "magnesium dependent 1", "dependent 1 delta", "protein phosphatase magnesium dependent", "phosphatase magnesium dependent 1", "magnesium dependent 1 delta", "protein phosphatase magnesium dependent 1", "phosphatase magnesium dependent 1 delta", "p53", "induced", "p53 induced", "induced protein", "phosphatase 1", "p53 induced protein", "induced protein phosphatase", "protein phosphatase 1", "p53 induced protein phosphatase", "induced protein phosphatase 1", "p53 induced protein phosphatase 1", "wip1", "phosphatase wip1", "protein phosphatase wip1", "wild", "type", "wild type", "type p53", "induced phosphatase", "wild type p53", "type p53 induced", "p53 induced phosphatase", "induced phosphatase 1", "wild type p53 induced", "type p53 induced phosphatase", "p53 induced phosphatase 1", "wild type p53 induced phosphatase", "type p53 induced phosphatase 1" ] }, { "record_id": "MONDO:0044319", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044319", "0044319", "mim:617452", "617452" ] }, { "record_id": "MONDO:0044319", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "dysmorphic", "facies", "seizures", "and", "distal", "limb", "anomalies", "intellectual developmental", "developmental disorder", "disorder with", "with dysmorphic", "dysmorphic facies", "and distal", "distal limb", "limb anomalies", "intellectual developmental disorder", "developmental disorder with", "disorder with dysmorphic", "with dysmorphic facies", "facies seizures", "seizures and", "and distal limb", "distal limb anomalies", "intellectual developmental disorder with", "developmental disorder with dysmorphic", "disorder with dysmorphic facies", "dysmorphic facies seizures", "seizures and distal", "and distal limb anomalies", "intellectual developmental disorder with dysmorphic", "developmental disorder with dysmorphic facies", "with dysmorphic facies seizures", "facies seizures and", "seizures and distal limb", "iddfsda" ] }, { "record_id": "MONDO:0044319", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044319", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n6m0", "q8n6m0 1", "otu6b_human", "np_001273674", "glycoprotein", "otud6b", "cgi", "77", "cgi 77", "duba", "duba 5", "duba5", "iddfsda" ] }, { "record_id": "MONDO:0044319", "record_type": "disease", "section": "proteins", "phraselist": [ "deubiquitinase", "otud6b", "deubiquitinase otud6b", "3.4.19.12", "duba", "duba 5", "otu", "domain", "containing", "6b", "otu domain", "domain containing", "containing 6b", "otu domain containing", "domain containing 6b", "otu domain containing 6b", "protein", "containing protein", "protein 6b", "domain containing protein", "containing protein 6b", "otu domain containing protein", "domain containing protein 6b", "otu domain containing protein 6b", "isoform", "otud6b isoform", "isoform 2", "deubiquitinase otud6b isoform", "otud6b isoform 2", "deubiquitinase otud6b isoform 2" ] }, { "record_id": "MONDO:0044321", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044321", "0044321", "mim:617478", "617478" ] }, { "record_id": "MONDO:0044321", "record_type": "disease", "section": "disease_name", "phraselist": [ "structural", "heart", "defects", "and", "renal", "anomalies", "syndrome", "structural heart", "heart defects", "defects and", "and renal", "renal anomalies", "anomalies syndrome", "structural heart defects", "heart defects and", "defects and renal", "and renal anomalies", "renal anomalies syndrome", "structural heart defects and", "heart defects and renal", "defects and renal anomalies", "and renal anomalies syndrome", "structural heart defects and renal", "heart defects and renal anomalies", "defects and renal anomalies syndrome", "shdra" ] }, { "record_id": "MONDO:0044321", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044321", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nx78", "q9nx78 1", "tm260_human", "np_060269", "glycoprotein", "tmem260", "c14orf101", "shdra" ] }, { "record_id": "MONDO:0044321", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "mannosyl", "transferase", "tmem260", "protein o", "o mannosyl", "mannosyl transferase", "transferase tmem260", "protein o mannosyl", "o mannosyl transferase", "mannosyl transferase tmem260", "protein o mannosyl transferase", "o mannosyl transferase tmem260", "protein o mannosyl transferase tmem260", "2.4.1.109", "transmembrane", "260", "transmembrane protein", "protein 260", "transmembrane protein 260", "upf0679", "c14orf101", "upf0679 protein", "protein c14orf101", "upf0679 protein c14orf101", "precursor", "tmem260 precursor", "transferase tmem260 precursor", "mannosyl transferase tmem260 precursor", "o mannosyl transferase tmem260 precursor" ] }, { "record_id": "MONDO:0044322", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044322", "0044322", "mim:617532", "617532" ] }, { "record_id": "MONDO:0044322", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "neuropsychiatric", "features", "intellectual developmental", "developmental disorder", "disorder with", "with neuropsychiatric", "neuropsychiatric features", "intellectual developmental disorder", "developmental disorder with", "disorder with neuropsychiatric", "with neuropsychiatric features", "intellectual developmental disorder with", "developmental disorder with neuropsychiatric", "disorder with neuropsychiatric features", "intellectual developmental disorder with neuropsychiatric", "developmental disorder with neuropsychiatric features", "iddnpf" ] }, { "record_id": "MONDO:0044322", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044322", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y2w3", "q9y2w3 1", "s45a1_human", "np_001073866", "glycoprotein", "slc45a1", "dnb5", "iddnpf", "past", "past a" ] }, { "record_id": "MONDO:0044322", "record_type": "disease", "section": "proteins", "phraselist": [ "proton", "associated", "sugar", "transporter", "proton associated", "associated sugar", "sugar transporter", "transporter a", "proton associated sugar", "associated sugar transporter", "sugar transporter a", "proton associated sugar transporter", "associated sugar transporter a", "proton associated sugar transporter a", "dnb", "dnb 5", "deleted", "in", "neuroblastoma", "protein", "deleted in", "in neuroblastoma", "neuroblastoma 5", "5 protein", "deleted in neuroblastoma", "in neuroblastoma 5", "neuroblastoma 5 protein", "deleted in neuroblastoma 5", "in neuroblastoma 5 protein", "deleted in neuroblastoma 5 protein", "h+/sugar", "symporter", "h+/sugar symporter", "past", "past a", "solute", "carrier", "family", "45", "member", "solute carrier", "carrier family", "family 45", "45 member", "member 1", "solute carrier family", "carrier family 45", "family 45 member", "45 member 1", "solute carrier family 45", "carrier family 45 member", "family 45 member 1", "solute carrier family 45 member", "carrier family 45 member 1", "isoform", "a isoform", "isoform 2", "transporter a isoform", "a isoform 2", "sugar transporter a isoform", "transporter a isoform 2", "associated sugar transporter a isoform", "sugar transporter a isoform 2" ] }, { "record_id": "MONDO:0044323", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044323", "0044323", "mim:617537", "617537" ] }, { "record_id": "MONDO:0044323", "record_type": "disease", "section": "disease_name", "phraselist": [ "rahman", "syndrome", "rahman syndrome", "autosomal", "dominant", "intellectual", "disability", "craniofacial", "dysmorphism", "macrocephaly", "hypotonia", "due", "to", "h1", "mutation", "autosomal dominant", "dominant intellectual", "intellectual disability", "disability craniofacial", "craniofacial dysmorphism", "dysmorphism macrocephaly", "macrocephaly hypotonia", "hypotonia syndrome", "syndrome due", "due to", "to h1", "h1 4", "4 mutation", "autosomal dominant intellectual", "dominant intellectual disability", "intellectual disability craniofacial", "disability craniofacial dysmorphism", "craniofacial dysmorphism macrocephaly", "dysmorphism macrocephaly hypotonia", "macrocephaly hypotonia syndrome", "hypotonia syndrome due", "syndrome due to", "due to h1", "to h1 4", "h1 4 mutation", "autosomal dominant intellectual disability", "dominant intellectual disability craniofacial", "intellectual disability craniofacial dysmorphism", "disability craniofacial dysmorphism macrocephaly", "craniofacial dysmorphism macrocephaly hypotonia", "dysmorphism macrocephaly hypotonia syndrome", "macrocephaly hypotonia syndrome due", "hypotonia syndrome due to", "syndrome due to h1", "due to h1 4", "to h1 4 mutation", "autosomal dominant intellectual disability craniofacial", "dominant intellectual disability craniofacial dysmorphism", "intellectual disability craniofacial dysmorphism macrocephaly", "disability craniofacial dysmorphism macrocephaly hypotonia", "craniofacial dysmorphism macrocephaly hypotonia syndrome", "dysmorphism macrocephaly hypotonia syndrome due", "macrocephaly hypotonia syndrome due to", "hypotonia syndrome due to h1", "syndrome due to h1 4", "due to h1 4 mutation", "rmns" ] }, { "record_id": "MONDO:0044323", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044323", "record_type": "disease", "section": "proteins", "phraselist": [ "p10412", "p10412 1", "h14_human", "np_005312", "glycoprotein", "h1", "h1 4", "h1.4", "h1e", "h1f4", "h1s", "h1s 4", "hist1h1e", "rmns", "dj221c16.5" ] }, { "record_id": "MONDO:0044323", "record_type": "disease", "section": "proteins", "phraselist": [ "histone", "h1.4", "histone h1.4", "h1", "family", "member", "h1 histone", "histone family", "member 4", "h1 histone family", "family member", "histone family member", "family member 4", "h1 histone family member", "histone family member 4", "h1b", "histone h1b", "h1s", "histone h1s", "h1s 4", "histone h1s 4", "h1e", "histone 1", "1 h1e", "histone 1 h1e", "cluster", "histone cluster", "cluster 1", "1 h1", "h1 family", "member e", "histone cluster 1", "cluster 1 h1", "1 h1 family", "h1 family member", "family member e", "histone cluster 1 h1", "cluster 1 h1 family", "1 h1 family member", "h1 family member e", "histone cluster 1 h1 family", "cluster 1 h1 family member", "1 h1 family member e", "cluster 1 h1e", "histone cluster 1 h1e" ] }, { "record_id": "MONDO:0044324", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044324", "0044324", "mim:617694", "617694" ] }, { "record_id": "MONDO:0044324", "record_type": "disease", "section": "disease_name", "phraselist": [ "al", "kaissi", "syndrome", "al kaissi", "kaissi syndrome", "al kaissi syndrome", "alkas" ] }, { "record_id": "MONDO:0044328", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044328", "0044328", "mim:617925", "617925" ] }, { "record_id": "MONDO:0044328", "record_type": "disease", "section": "disease_name", "phraselist": [ "short", "rib", "thoracic", "dysplasia", "20", "with", "polydactyly", "short rib", "rib thoracic", "thoracic dysplasia", "dysplasia 20", "20 with", "with polydactyly", "short rib thoracic", "rib thoracic dysplasia", "thoracic dysplasia 20", "dysplasia 20 with", "20 with polydactyly", "short rib thoracic dysplasia", "rib thoracic dysplasia 20", "thoracic dysplasia 20 with", "dysplasia 20 with polydactyly", "short rib thoracic dysplasia 20", "rib thoracic dysplasia 20 with", "thoracic dysplasia 20 with polydactyly", "srtd20" ] }, { "record_id": "MONDO:0044328", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044328", "record_type": "disease", "section": "proteins", "phraselist": [ "q9uld6", "q9uld6 1", "intu_human", "np_056508", "glycoprotein", "intu", "cplane4", "int", "kiaa1284", "ofd17", "pdzd6", "pdzk6", "srtd20" ] }, { "record_id": "MONDO:0044328", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "inturned", "protein inturned", "planar", "cell", "polarity", "effector", "homolog", "inturned planar", "planar cell", "cell polarity", "polarity effector", "effector homolog", "inturned planar cell", "planar cell polarity", "cell polarity effector", "polarity effector homolog", "inturned planar cell polarity", "planar cell polarity effector", "cell polarity effector homolog", "inturned planar cell polarity effector", "planar cell polarity effector homolog", "pdz", "domain", "containing", "pdz domain", "domain containing", "containing 6", "pdz domain containing", "domain containing 6", "pdz domain containing 6", "containing protein", "protein 6", "domain containing protein", "containing protein 6", "pdz domain containing protein", "domain containing protein 6", "pdz domain containing protein 6", "ciliogenesis", "and", "ciliogenesis and", "and planar", "planar polarity", "effector 4", "ciliogenesis and planar", "and planar polarity", "planar polarity effector", "polarity effector 4", "ciliogenesis and planar polarity", "and planar polarity effector", "planar polarity effector 4", "ciliogenesis and planar polarity effector", "and planar polarity effector 4", "complex", "subunit", "effector complex", "complex subunit", "subunit 4", "polarity effector complex", "effector complex subunit", "complex subunit 4", "planar polarity effector complex", "polarity effector complex subunit", "effector complex subunit 4", "and planar polarity effector complex", "planar polarity effector complex subunit", "polarity effector complex subunit 4" ] }, { "record_id": "MONDO:0044637", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044637", "0044637", "mim:616921", "616921" ] }, { "record_id": "MONDO:0044637", "record_type": "disease", "section": "disease_name", "phraselist": [ "infantile", "onset", "generalized", "dyskinesia", "with", "orofacial", "involvement", "infantile onset", "onset generalized", "generalized dyskinesia", "dyskinesia with", "with orofacial", "orofacial involvement", "infantile onset generalized", "onset generalized dyskinesia", "generalized dyskinesia with", "dyskinesia with orofacial", "with orofacial involvement", "infantile onset generalized dyskinesia", "onset generalized dyskinesia with", "generalized dyskinesia with orofacial", "dyskinesia with orofacial involvement", "infantile onset generalized dyskinesia with", "onset generalized dyskinesia with orofacial", "generalized dyskinesia with orofacial involvement", "iolod", "limb", "and", "limb and", "and orofacial", "dyskinesia limb", "limb and orofacial", "orofacial infantile", "dyskinesia limb and", "and orofacial infantile", "orofacial infantile onset", "dyskinesia limb and orofacial", "limb and orofacial infantile", "and orofacial infantile onset", "trunk", "limbs", "onset orofacial", "orofacial trunk", "trunk limbs", "limbs dyskinesia", "infantile onset orofacial", "onset orofacial trunk", "orofacial trunk limbs", "trunk limbs dyskinesia", "infantile onset orofacial trunk", "onset orofacial trunk limbs", "orofacial trunk limbs dyskinesia", "infantile onset orofacial trunk limbs", "onset orofacial trunk limbs dyskinesia" ] }, { "record_id": "MONDO:0044637", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044637", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y233", "q9y233 3", "pde10_human", "np_001124162", "glycoprotein", "pde10a", "adsd2", "hspde10a", "iolod", "pde10a19" ] }, { "record_id": "MONDO:0044637", "record_type": "disease", "section": "proteins", "phraselist": [ "camp", "and", "inhibited", "cgmp", "3'", "5'", "cyclic", "phosphodiesterase", "10a", "camp and", "and camp", "camp inhibited", "inhibited cgmp", "cgmp 3'", "3' 5'", "5' cyclic", "cyclic phosphodiesterase", "phosphodiesterase 10a", "camp and camp", "and camp inhibited", "camp inhibited cgmp", "inhibited cgmp 3'", "cgmp 3' 5'", "3' 5' cyclic", "5' cyclic phosphodiesterase", "cyclic phosphodiesterase 10a", "camp and camp inhibited", "and camp inhibited cgmp", "camp inhibited cgmp 3'", "inhibited cgmp 3' 5'", "cgmp 3' 5' cyclic", "3' 5' cyclic phosphodiesterase", "5' cyclic phosphodiesterase 10a", "camp and camp inhibited cgmp", "and camp inhibited cgmp 3'", "camp inhibited cgmp 3' 5'", "inhibited cgmp 3' 5' cyclic", "cgmp 3' 5' cyclic phosphodiesterase", "3' 5' cyclic phosphodiesterase 10a", "camp/cgmp", "5' camp/cgmp", "camp/cgmp phosphodiesterase", "3' 5' camp/cgmp", "5' camp/cgmp phosphodiesterase", "3' 5' camp/cgmp phosphodiesterase", "3.1.4.17", "isoform", "10a isoform", "isoform 1", "phosphodiesterase 10a isoform", "10a isoform 1", "cyclic phosphodiesterase 10a isoform", "phosphodiesterase 10a isoform 1", "5' cyclic phosphodiesterase 10a isoform", "cyclic phosphodiesterase 10a isoform 1", "dj416f21.1", "dj416f21.1 phosphodiesterase", "dj416f21.1 phosphodiesterase 10a", "10a1", "pde10a1", "phosphodiesterase 10a1", "10a1 pde10a1", "phosphodiesterase 10a1 pde10a1", "10a7", "pde10a7", "phosphodiesterase 10a7", "10a7 pde10a7", "phosphodiesterase 10a7 pde10a7" ] }, { "record_id": "MONDO:0044696", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044696", "0044696", "mim:617669", "617669" ] }, { "record_id": "MONDO:0044696", "record_type": "disease", "section": "disease_name", "phraselist": [ "early", "onset", "progressive", "encephalopathy", "hearing", "loss", "pons", "hypoplasia", "brain", "atrophy", "syndrome", "early onset", "onset progressive", "progressive encephalopathy", "encephalopathy hearing", "hearing loss", "loss pons", "pons hypoplasia", "hypoplasia brain", "brain atrophy", "atrophy syndrome", "early onset progressive", "onset progressive encephalopathy", "progressive encephalopathy hearing", "encephalopathy hearing loss", "hearing loss pons", "loss pons hypoplasia", "pons hypoplasia brain", "hypoplasia brain atrophy", "brain atrophy syndrome", "early onset progressive encephalopathy", "onset progressive encephalopathy hearing", "progressive encephalopathy hearing loss", "encephalopathy hearing loss pons", "hearing loss pons hypoplasia", "loss pons hypoplasia brain", "pons hypoplasia brain atrophy", "hypoplasia brain atrophy syndrome", "early onset progressive encephalopathy hearing", "onset progressive encephalopathy hearing loss", "progressive encephalopathy hearing loss pons", "encephalopathy hearing loss pons hypoplasia", "hearing loss pons hypoplasia brain", "loss pons hypoplasia brain atrophy", "pons hypoplasia brain atrophy syndrome", "pebas", "with", "and", "spasticity", "with brain", "atrophy and", "and spasticity", "encephalopathy progressive", "progressive early", "onset with", "with brain atrophy", "brain atrophy and", "atrophy and spasticity", "progressive early onset", "early onset with", "onset with brain", "with brain atrophy and", "brain atrophy and spasticity", "encephalopathy progressive early", "early onset with brain", "onset with brain atrophy", "with brain atrophy and spasticity" ] }, { "record_id": "MONDO:0044714", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044714", "0044714", "mim:617675", "617675" ] }, { "record_id": "MONDO:0044714", "record_type": "disease", "section": "disease_name", "phraselist": [ "mitochondrial", "myopathy", "cerebellar", "ataxia", "pigmentary", "retinopathy", "syndrome", "mitochondrial myopathy", "myopathy cerebellar", "cerebellar ataxia", "ataxia pigmentary", "pigmentary retinopathy", "retinopathy syndrome", "mitochondrial myopathy cerebellar", "myopathy cerebellar ataxia", "cerebellar ataxia pigmentary", "ataxia pigmentary retinopathy", "pigmentary retinopathy syndrome", "mitochondrial myopathy cerebellar ataxia", "myopathy cerebellar ataxia pigmentary", "cerebellar ataxia pigmentary retinopathy", "ataxia pigmentary retinopathy syndrome", "mitochondrial myopathy cerebellar ataxia pigmentary", "myopathy cerebellar ataxia pigmentary retinopathy", "cerebellar ataxia pigmentary retinopathy syndrome", "atrophy", "cerebellar atrophy", "atrophy pigmentary", "myopathy cerebellar atrophy", "cerebellar atrophy pigmentary", "atrophy pigmentary retinopathy", "mitochondrial myopathy cerebellar atrophy", "myopathy cerebellar atrophy pigmentary", "cerebellar atrophy pigmentary retinopathy", "atrophy pigmentary retinopathy syndrome", "mitochondrial myopathy cerebellar atrophy pigmentary", "myopathy cerebellar atrophy pigmentary retinopathy", "cerebellar atrophy pigmentary retinopathy syndrome", "mmyat", "and", "and ataxia", "myopathy mitochondrial", "mitochondrial and", "mitochondrial and ataxia", "myopathy mitochondrial and" ] }, { "record_id": "MONDO:0044718", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044718", "0044718", "mim:617762", "617762" ] }, { "record_id": "MONDO:0044718", "record_type": "disease", "section": "disease_name", "phraselist": [ "alkaline", "ceramidase", "deficiency", "alkaline ceramidase", "ceramidase 3", "3 deficiency", "alkaline ceramidase 3", "ceramidase 3 deficiency", "alkaline ceramidase 3 deficiency", "acer3", "related", "early", "childhood", "onset", "progressive", "leukodystrophy", "acer3 related", "related early", "early childhood", "childhood onset", "onset progressive", "progressive leukodystrophy", "acer3 related early", "related early childhood", "early childhood onset", "childhood onset progressive", "onset progressive leukodystrophy", "acer3 related early childhood", "related early childhood onset", "early childhood onset progressive", "childhood onset progressive leukodystrophy", "acer3 related early childhood onset", "related early childhood onset progressive", "early childhood onset progressive leukodystrophy", "due", "to", "leukodystrophy due", "due to", "to alkaline", "leukodystrophy due to", "due to alkaline", "to alkaline ceramidase", "leukodystrophy due to alkaline", "due to alkaline ceramidase", "to alkaline ceramidase 3", "leukodystrophy due to alkaline ceramidase", "due to alkaline ceramidase 3", "to alkaline ceramidase 3 deficiency", "pldeco", "leukodystrophy progressive", "progressive early", "progressive early childhood", "leukodystrophy progressive early", "progressive early childhood onset" ] }, { "record_id": "MONDO:0044726", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044726", "0044726", "mim:617595", "617595" ] }, { "record_id": "MONDO:0044726", "record_type": "disease", "section": "disease_name", "phraselist": [ "psychomotor", "regression", "oculomotor", "apraxia", "movement", "disorder", "nephropathy", "syndrome", "psychomotor regression", "regression oculomotor", "oculomotor apraxia", "apraxia movement", "movement disorder", "disorder nephropathy", "nephropathy syndrome", "psychomotor regression oculomotor", "regression oculomotor apraxia", "oculomotor apraxia movement", "apraxia movement disorder", "movement disorder nephropathy", "disorder nephropathy syndrome", "psychomotor regression oculomotor apraxia", "regression oculomotor apraxia movement", "oculomotor apraxia movement disorder", "apraxia movement disorder nephropathy", "movement disorder nephropathy syndrome", "psychomotor regression oculomotor apraxia movement", "regression oculomotor apraxia movement disorder", "oculomotor apraxia movement disorder nephropathy", "apraxia movement disorder nephropathy syndrome", "cerebrorenal", "perez", "type", "cerebrorenal syndrome", "perez type", "syndrome perez", "cerebrorenal syndrome perez", "syndrome perez type", "cerebrorenal syndrome perez type", "bilapes", "birk", "landau", "birk landau", "landau perez", "perez syndrome", "birk landau perez", "landau perez syndrome", "birk landau perez syndrome" ] }, { "record_id": "MONDO:0044726", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044726", "record_type": "disease", "section": "proteins", "phraselist": [ "q6pml9", "q6pml9 1", "znt9_human", "np_006336", "glycoprotein", "slc30a9", "bilapes", "c4orf1", "gac63", "huel", "znt9" ] }, { "record_id": "MONDO:0044726", "record_type": "disease", "section": "proteins", "phraselist": [ "proton", "coupled", "zinc", "antiporter", "slc30a9", "mitochondrial", "proton coupled", "coupled zinc", "zinc antiporter", "antiporter slc30a9", "proton coupled zinc", "coupled zinc antiporter", "zinc antiporter slc30a9", "slc30a9 mitochondrial", "proton coupled zinc antiporter", "coupled zinc antiporter slc30a9", "antiporter slc30a9 mitochondrial", "proton coupled zinc antiporter slc30a9", "zinc antiporter slc30a9 mitochondrial", "grip1", "dependent", "nuclear", "receptor", "coactivator", "grip1 dependent", "dependent nuclear", "nuclear receptor", "receptor coactivator", "grip1 dependent nuclear", "dependent nuclear receptor", "nuclear receptor coactivator", "grip1 dependent nuclear receptor", "dependent nuclear receptor coactivator", "grip1 dependent nuclear receptor coactivator", "huel", "human", "embryonic", "lung", "protein", "human embryonic", "embryonic lung", "lung protein", "human embryonic lung", "embryonic lung protein", "human embryonic lung protein", "solute", "carrier", "family", "30", "member", "solute carrier", "carrier family", "family 30", "30 member", "member 9", "solute carrier family", "carrier family 30", "family 30 member", "30 member 9", "solute carrier family 30", "carrier family 30 member", "family 30 member 9", "solute carrier family 30 member", "carrier family 30 member 9", "transporter", "zinc transporter", "transporter 9", "zinc transporter 9", "znt", "znt 9", "expressed", "in", "expressed in", "in human", "expressed in human", "in human embryonic", "expressed in human embryonic", "in human embryonic lung", "expressed in human embryonic lung", "30 zinc", "family 30 zinc", "30 zinc transporter", "transporter member", "carrier family 30 zinc", "family 30 zinc transporter", "zinc transporter member", "transporter member 9" ] }, { "record_id": "MONDO:0044738", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0044738", "0044738", "mim:617557", "617557" ] }, { "record_id": "MONDO:0044738", "record_type": "disease", "section": "disease_name", "phraselist": [ "gabriele", "de", "vries", "syndrome", "gabriele de", "de vries", "vries syndrome", "gabriele de vries", "de vries syndrome", "gabriele de vries syndrome", "yy1", "haploinsufficiency", "yy1 haploinsufficiency", "haploinsufficiency syndrome", "yy1 haploinsufficiency syndrome", "gadevs" ] }, { "record_id": "MONDO:0044738", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0044738", "record_type": "disease", "section": "proteins", "phraselist": [ "p25490", "p25490 1", "tyy1_human", "np_003394", "glycoprotein", "yy1", "delta", "gadevs", "ino80s", "nf", "e1", "nf e1", "ucrbp", "yin", "yang", "yin yang", "yang 1", "yin yang 1" ] }, { "record_id": "MONDO:0044738", "record_type": "disease", "section": "proteins", "phraselist": [ "transcriptional", "repressor", "protein", "yy1", "transcriptional repressor", "repressor protein", "protein yy1", "transcriptional repressor protein", "repressor protein yy1", "transcriptional repressor protein yy1", "delta", "transcription", "factor", "delta transcription", "transcription factor", "delta transcription factor", "ino80", "complex", "subunit", "ino80 complex", "complex subunit", "subunit s", "ino80 complex subunit", "complex subunit s", "ino80 complex subunit s", "nf", "e1", "nf e1", "yy", "yy 1", "yin", "and", "yang", "yin and", "and yang", "yang 1", "1 protein", "yin and yang", "and yang 1", "yang 1 protein", "yin and yang 1", "and yang 1 protein", "yin and yang 1 protein" ] }, { "record_id": "MONDO:0049221", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0049221", "0049221", "mim:301010", "301010" ] }, { "record_id": "MONDO:0049221", "record_type": "disease", "section": "disease_name", "phraselist": [ "myopia", "26", "linked", "female", "limited", "myopia 26", "x linked", "female limited", "26 x", "linked female", "myopia 26 x", "26 x linked", "x linked female", "linked female limited", "myopia 26 x linked", "x linked female limited", "myp26" ] }, { "record_id": "MONDO:0049221", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0049221", "record_type": "disease", "section": "proteins", "phraselist": [ "p36575", "p36575 1", "arrc_human", "np_004303", "arr3", "arrx", "car", "myp26", "carr" ] }, { "record_id": "MONDO:0049221", "record_type": "disease", "section": "proteins", "phraselist": [ "arrestin", "arrestin c", "c arrestin", "cone", "cone arrestin", "retinal", "retinal cone", "arrestin 3", "retinal cone arrestin", "cone arrestin 3", "retinal cone arrestin 3", "x arrestin", "3 retinal", "arrestin 3 retinal", "retinal x", "3 retinal x", "retinal x arrestin", "arrestin 3 retinal x", "3 retinal x arrestin", "arrestin 4", "carr" ] }, { "record_id": "MONDO:0054550", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0054550", "0054550", "mim:608805", "608805" ] }, { "record_id": "MONDO:0054550", "record_type": "disease", "section": "disease_name", "phraselist": [ "avascular", "necrosis", "of", "femoral", "head", "primary", "avascular necrosis", "necrosis of", "of femoral", "femoral head", "avascular necrosis of", "necrosis of femoral", "of femoral head", "head primary", "primary 1", "avascular necrosis of femoral", "necrosis of femoral head", "femoral head primary", "avascular necrosis of femoral head", "of femoral head primary", "head primary 1", "the", "of the", "the femoral", "necrosis of the", "of the femoral", "the femoral head", "avascular necrosis of the", "necrosis of the femoral", "of the femoral head", "avascular necrosis of the femoral", "necrosis of the femoral head", "anfh1", "ischaemic", "ischaemic necrosis", "ischaemic necrosis of", "ischaemic necrosis of femoral", "ischaemic necrosis of femoral head" ] }, { "record_id": "MONDO:0054550", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0054550", "record_type": "disease", "section": "proteins", "phraselist": [ "p02458", "p02458 2", "co2a1_human", "np_001835", "glycoprotein", "col2a1", "acg2", "anfh1", "anfh", "aom", "col11a3", "edmmd", "lcpd", "oscdp", "plsdt", "sedc", "sedstn", "semdstwk", "smdalg", "stl1", "vped" ] }, { "record_id": "MONDO:0054550", "record_type": "disease", "section": "proteins", "phraselist": [ "collagen", "alpha", "ii", "chain", "collagen alpha", "alpha 1", "1 ii", "collagen alpha 1", "alpha 1 ii", "ii chain", "collagen alpha 1 ii", "1 ii chain", "alpha 1 ii chain", "type", "1 type", "type ii", "ii collagen", "alpha 1 type", "1 type ii", "type ii collagen", "alpha 1 type ii", "1 type ii collagen", "alpha 1 type ii collagen", "arthroophthalmopathy", "progressive", "stickler", "syndrome", "stickler syndrome", "arthroophthalmopathy progressive", "progressive stickler", "progressive stickler syndrome", "arthroophthalmopathy progressive stickler", "cartilage", "cartilage collagen", "chondrocalcin", "polypeptide", "collagen ii", "1 polypeptide", "ii alpha", "alpha 1 polypeptide", "collagen ii alpha", "ii alpha 1", "collagen ii alpha 1", "ii alpha 1 polypeptide", "isoform", "precursor", "chain isoform", "isoform 1", "1 precursor", "chain isoform 1", "isoform 1 precursor", "ii chain isoform", "chain isoform 1 precursor", "1 ii chain isoform", "ii chain isoform 1", "collagen type", "collagen type ii", "type ii alpha", "type ii alpha 1" ] }, { "record_id": "MONDO:0054551", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0054551", "0054551", "mim:617383", "617383" ] }, { "record_id": "MONDO:0054551", "record_type": "disease", "section": "disease_name", "phraselist": [ "avascular", "necrosis", "of", "femoral", "head", "primary", "avascular necrosis", "necrosis of", "of femoral", "femoral head", "avascular necrosis of", "necrosis of femoral", "of femoral head", "head primary", "primary 2", "avascular necrosis of femoral", "necrosis of femoral head", "femoral head primary", "avascular necrosis of femoral head", "of femoral head primary", "head primary 2", "anfh2", "the", "of the", "the femoral", "necrosis of the", "of the femoral", "the femoral head", "avascular necrosis of the", "necrosis of the femoral", "of the femoral head", "avascular necrosis of the femoral", "necrosis of the femoral head", "the femoral head primary", "femoral head primary 2" ] }, { "record_id": "MONDO:0054551", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0054551", "record_type": "disease", "section": "proteins", "phraselist": [ "q9hba0", "q9hba0 1", "trpv4_human", "np_001170899", "glycoprotein", "trpv4", "bcym3", "cmt2c", "hmsn2c", "otrpc4", "smal", "spsma", "ssqtl1", "trp12", "vrl2", "vroac" ] }, { "record_id": "MONDO:0054551", "record_type": "disease", "section": "proteins", "phraselist": [ "transient", "receptor", "potential", "cation", "channel", "subfamily", "member", "transient receptor", "receptor potential", "potential cation", "cation channel", "channel subfamily", "subfamily v", "v member", "member 4", "transient receptor potential", "receptor potential cation", "potential cation channel", "cation channel subfamily", "channel subfamily v", "subfamily v member", "v member 4", "transient receptor potential cation", "receptor potential cation channel", "potential cation channel subfamily", "cation channel subfamily v", "channel subfamily v member", "subfamily v member 4", "transient receptor potential cation channel", "receptor potential cation channel subfamily", "potential cation channel subfamily v", "cation channel subfamily v member", "channel subfamily v member 4", "osm9", "like", "osm9 like", "like transient", "potential channel", "channel 4", "osm9 like transient", "like transient receptor", "receptor potential channel", "potential channel 4", "osm9 like transient receptor", "like transient receptor potential", "transient receptor potential channel", "receptor potential channel 4", "osm9 like transient receptor potential", "like transient receptor potential channel", "transient receptor potential channel 4", "otrpc4", "osm", "trp", "osm 9", "9 like", "like trp", "trp channel", "osm 9 like", "9 like trp", "like trp channel", "trp channel 4", "osm 9 like trp", "9 like trp channel", "like trp channel 4", "osm 9 like trp channel", "9 like trp channel 4", "trp12", "protein", "12", "potential protein", "protein 12", "receptor potential protein", "potential protein 12", "transient receptor potential protein", "receptor potential protein 12", "transient receptor potential protein 12", "trpv4", "vr", "oac", "vr oac", "vrl", "vrl 2", "vanilloid", "vanilloid receptor", "receptor like", "like channel", "channel 2", "vanilloid receptor like", "receptor like channel", "like channel 2", "vanilloid receptor like channel", "receptor like channel 2", "vanilloid receptor like channel 2", "like protein", "protein 2", "receptor like protein", "like protein 2", "vanilloid receptor like protein", "receptor like protein 2", "vanilloid receptor like protein 2", "related", "osmotically", "activated", "receptor related", "related osmotically", "osmotically activated", "activated channel", "vanilloid receptor related", "receptor related osmotically", "related osmotically activated", "osmotically activated channel", "vanilloid receptor related osmotically", "receptor related osmotically activated", "related osmotically activated channel", "vanilloid receptor related osmotically activated", "receptor related osmotically activated channel", "osmosensitive", "osmosensitive transient", "osmosensitive transient receptor", "osmosensitive transient receptor potential", "osmosensitive transient receptor potential channel", "isoform", "4 isoform", "isoform e", "member 4 isoform", "4 isoform e", "v member 4 isoform", "member 4 isoform e", "subfamily v member 4 isoform", "v member 4 isoform e" ] }, { "record_id": "MONDO:0054565", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0054565", "0054565", "mim:617405", "617405" ] }, { "record_id": "MONDO:0054565", "record_type": "disease", "section": "disease_name", "phraselist": [ "short", "rib", "thoracic", "dysplasia", "17", "with", "or", "without", "polydactyly", "short rib", "rib thoracic", "thoracic dysplasia", "dysplasia 17", "17 with", "with or", "or without", "without polydactyly", "short rib thoracic", "rib thoracic dysplasia", "thoracic dysplasia 17", "dysplasia 17 with", "17 with or", "with or without", "or without polydactyly", "short rib thoracic dysplasia", "rib thoracic dysplasia 17", "thoracic dysplasia 17 with", "dysplasia 17 with or", "17 with or without", "with or without polydactyly", "short rib thoracic dysplasia 17", "rib thoracic dysplasia 17 with", "thoracic dysplasia 17 with or", "dysplasia 17 with or without", "17 with or without polydactyly", "srtd17" ] }, { "record_id": "MONDO:0054565", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0054565", "record_type": "disease", "section": "proteins", "phraselist": [ "q8ww35", "q8ww35 1", "dyt2b_human", "np_689986", "dynlt2b", "srtd17", "tctex1d2" ] }, { "record_id": "MONDO:0054565", "record_type": "disease", "section": "proteins", "phraselist": [ "dynein", "light", "chain", "tctex", "type", "protein", "2b", "dynein light", "light chain", "chain tctex", "tctex type", "type protein", "protein 2b", "dynein light chain", "light chain tctex", "chain tctex type", "tctex type protein", "type protein 2b", "dynein light chain tctex", "light chain tctex type", "chain tctex type protein", "tctex type protein 2b", "dynein light chain tctex type", "light chain tctex type protein", "chain tctex type protein 2b", "tctex1", "domain", "containing", "tctex1 domain", "domain containing", "containing 2", "tctex1 domain containing", "domain containing 2", "tctex1 domain containing 2", "containing protein", "protein 2", "domain containing protein", "containing protein 2", "tctex1 domain containing protein", "domain containing protein 2", "tctex1 domain containing protein 2", "isoform", "2b isoform", "isoform 2", "protein 2b isoform", "2b isoform 2", "type protein 2b isoform", "protein 2b isoform 2", "tctex type protein 2b isoform", "type protein 2b isoform 2" ] }, { "record_id": "MONDO:0054573", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0054573", "0054573", "mim:617435", "617435" ] }, { "record_id": "MONDO:0054573", "record_type": "disease", "section": "disease_name", "phraselist": [ "lopes", "maciel", "rodan", "syndrome", "lopes maciel", "maciel rodan", "rodan syndrome", "lopes maciel rodan", "maciel rodan syndrome", "lopes maciel rodan syndrome", "lomars" ] }, { "record_id": "MONDO:0054573", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0054573", "record_type": "disease", "section": "proteins", "phraselist": [ "p42858", "p42858 1", "hd_human", "np_002102", "glycoprotein", "htt", "hd", "it15", "lomars" ] }, { "record_id": "MONDO:0054573", "record_type": "disease", "section": "proteins", "phraselist": [ "huntingtin", "hd", "protein", "hd protein", "huntington", "disease", "huntington disease", "disease protein", "huntington disease protein", "isoform", "huntingtin isoform", "isoform 2", "huntingtin isoform 2" ] }, { "record_id": "MONDO:0054577", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0054577", "0054577", "mim:617443", "617443" ] }, { "record_id": "MONDO:0054577", "record_type": "disease", "section": "disease_name", "phraselist": [ "bleeding", "disorder", "platelet", "type", "21", "bleeding disorder", "platelet type", "disorder platelet", "type 21", "bleeding disorder platelet", "disorder platelet type", "platelet type 21", "bleeding disorder platelet type", "bdplt21" ] }, { "record_id": "MONDO:0054577", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0054577", "record_type": "disease", "section": "proteins", "phraselist": [ "q01543", "q01543 1", "fli1_human", "np_001161153", "glycoprotein", "fli1", "bdplt21", "ewsr2", "fli", "fli 1", "sic", "sic 1" ] }, { "record_id": "MONDO:0054577", "record_type": "disease", "section": "proteins", "phraselist": [ "friend", "leukemia", "integration", "transcription", "factor", "friend leukemia", "leukemia integration", "integration 1", "1 transcription", "transcription factor", "friend leukemia integration", "leukemia integration 1", "integration 1 transcription", "1 transcription factor", "friend leukemia integration 1", "leukemia integration 1 transcription", "integration 1 transcription factor", "friend leukemia integration 1 transcription", "leukemia integration 1 transcription factor", "ewing", "sarcoma", "breakpoint", "region", "ewing sarcoma", "sarcoma breakpoint", "breakpoint region", "region 2", "ewing sarcoma breakpoint", "sarcoma breakpoint region", "breakpoint region 2", "ewing sarcoma breakpoint region", "sarcoma breakpoint region 2", "ewing sarcoma breakpoint region 2", "isoform", "factor isoform", "isoform 2", "transcription factor isoform", "factor isoform 2", "1 transcription factor isoform", "transcription factor isoform 2", "integration 1 transcription factor isoform", "1 transcription factor isoform 2", "virus", "leukemia virus", "virus integration", "friend leukemia virus", "leukemia virus integration", "virus integration 1", "friend leukemia virus integration", "leukemia virus integration 1", "friend leukemia virus integration 1", "proto", "oncogene", "fli", "proto oncogene", "oncogene fli", "fli 1", "proto oncogene fli", "oncogene fli 1", "proto oncogene fli 1", "ergb", "factor ergb", "transcription factor ergb" ] }, { "record_id": "MONDO:0054582", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0054582", "0054582", "mim:617466", "617466" ] }, { "record_id": "MONDO:0054582", "record_type": "disease", "section": "disease_name", "phraselist": [ "townes", "brocks", "syndrome", "townes brocks", "brocks syndrome", "syndrome 2", "townes brocks syndrome", "brocks syndrome 2", "townes brocks syndrome 2", "tbs2" ] }, { "record_id": "MONDO:0054582", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0054582", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nyf0", "q9nyf0 1", "dact1_human", "np_001072988", "glycoprotein", "dact1", "dapper1", "dapper", "dpr1", "frodo", "hdpr1", "hng3", "tbs2", "thyex3" ] }, { "record_id": "MONDO:0054582", "record_type": "disease", "section": "proteins", "phraselist": [ "dapper", "homolog", "dapper homolog", "homolog 1", "dapper homolog 1", "antagonist", "of", "catenin", "dapper antagonist", "antagonist of", "of catenin", "catenin 1", "dapper antagonist of", "antagonist of catenin", "of catenin 1", "dapper antagonist of catenin", "antagonist of catenin 1", "dapper antagonist of catenin 1", "hepatocellular", "carcinoma", "novel", "gene", "protein", "hepatocellular carcinoma", "carcinoma novel", "novel gene", "gene 3", "3 protein", "hepatocellular carcinoma novel", "carcinoma novel gene", "novel gene 3", "gene 3 protein", "hepatocellular carcinoma novel gene", "carcinoma novel gene 3", "novel gene 3 protein", "hepatocellular carcinoma novel gene 3", "carcinoma novel gene 3 protein", "isoform", "1 isoform", "isoform 2", "homolog 1 isoform", "1 isoform 2", "dapper homolog 1 isoform", "homolog 1 isoform 2", "dapper homolog 1 isoform 2", "beta", "of beta", "beta catenin", "antagonist of beta", "of beta catenin", "catenin homolog", "antagonist of beta catenin", "beta catenin homolog", "catenin homolog 1", "dapper antagonist of beta", "of beta catenin homolog", "beta catenin homolog 1", "hdpr1", "heptacellular", "heptacellular carcinoma", "heptacellular carcinoma novel", "heptacellular carcinoma novel gene", "heptacellular carcinoma novel gene 3" ] }, { "record_id": "MONDO:0054591", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0054591", "0054591", "mim:617516", "617516" ] }, { "record_id": "MONDO:0054591", "record_type": "disease", "section": "disease_name", "phraselist": [ "stankiewicz", "isidor", "syndrome", "stankiewicz isidor", "isidor syndrome", "stankiewicz isidor syndrome", "stiss" ] }, { "record_id": "MONDO:0054591", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0054591", "record_type": "disease", "section": "proteins", "phraselist": [ "o00232", "o00232 1", "psd12_human", "np_001303270", "glycoprotein", "psmd12", "rpn5", "stiss", "p55" ] }, { "record_id": "MONDO:0054591", "record_type": "disease", "section": "proteins", "phraselist": [ "26s", "proteasome", "non", "atpase", "regulatory", "subunit", "12", "26s proteasome", "proteasome non", "non atpase", "atpase regulatory", "regulatory subunit", "subunit 12", "26s proteasome non", "proteasome non atpase", "non atpase regulatory", "atpase regulatory subunit", "regulatory subunit 12", "26s proteasome non atpase", "proteasome non atpase regulatory", "non atpase regulatory subunit", "atpase regulatory subunit 12", "26s proteasome non atpase regulatory", "proteasome non atpase regulatory subunit", "non atpase regulatory subunit 12", "isoform", "12 isoform", "isoform 3", "subunit 12 isoform", "12 isoform 3", "regulatory subunit 12 isoform", "subunit 12 isoform 3", "atpase regulatory subunit 12 isoform", "regulatory subunit 12 isoform 3", "rpn5", "proteasome regulatory", "subunit rpn5", "26s proteasome regulatory", "proteasome regulatory subunit", "regulatory subunit rpn5", "26s proteasome regulatory subunit", "proteasome regulatory subunit rpn5", "26s proteasome regulatory subunit rpn5", "p55", "subunit p55", "regulatory subunit p55", "proteasome regulatory subunit p55", "26s proteasome regulatory subunit p55", "prosome", "macropain", "26s subunit", "proteasome prosome", "prosome macropain", "macropain 26s", "subunit non", "atpase 12", "macropain 26s subunit", "26s subunit non", "subunit non atpase", "non atpase 12", "proteasome prosome macropain", "prosome macropain 26s", "26s subunit non atpase" ] }, { "record_id": "MONDO:0054602", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0054602", "0054602", "mim:617542", "617542" ] }, { "record_id": "MONDO:0054602", "record_type": "disease", "section": "disease_name", "phraselist": [ "gaze", "palsy", "familial", "horizontal", "with", "progressive", "scoliosis", "gaze palsy", "familial horizontal", "with progressive", "progressive scoliosis", "palsy familial", "horizontal with", "with progressive scoliosis", "scoliosis 2", "gaze palsy familial", "palsy familial horizontal", "familial horizontal with", "horizontal with progressive", "progressive scoliosis 2", "gaze palsy familial horizontal", "familial horizontal with progressive", "horizontal with progressive scoliosis", "with progressive scoliosis 2", "hgpps2", "impaired", "intellectual", "development", "with impaired", "impaired intellectual", "intellectual development", "2 with", "with impaired intellectual", "impaired intellectual development", "2 with impaired", "with impaired intellectual development", "scoliosis 2 with", "2 with impaired intellectual" ] }, { "record_id": "MONDO:0054602", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0054602", "record_type": "disease", "section": "proteins", "phraselist": [ "p43146", "p43146 1", "dcc_human", "np_005206", "glycoprotein", "dcc", "crc18", "crcr1", "hgpps2", "igdcc1", "mrmv1", "ntn1r1" ] }, { "record_id": "MONDO:0054602", "record_type": "disease", "section": "proteins", "phraselist": [ "netrin", "receptor", "dcc", "netrin receptor", "receptor dcc", "netrin receptor dcc", "colorectal", "cancer", "suppressor", "colorectal cancer", "cancer suppressor", "colorectal cancer suppressor", "immunoglobulin", "superfamily", "subclass", "member", "immunoglobulin superfamily", "superfamily dcc", "dcc subclass", "subclass member", "member 1", "immunoglobulin superfamily dcc", "superfamily dcc subclass", "dcc subclass member", "subclass member 1", "immunoglobulin superfamily dcc subclass", "superfamily dcc subclass member", "dcc subclass member 1", "immunoglobulin superfamily dcc subclass member", "superfamily dcc subclass member 1", "tumor", "protein", "tumor suppressor", "suppressor protein", "protein dcc", "tumor suppressor protein", "suppressor protein dcc", "tumor suppressor protein dcc", "deleted", "in", "carcinoma", "deleted in", "in colorectal", "colorectal carcinoma", "deleted in colorectal", "in colorectal carcinoma", "deleted in colorectal carcinoma", "putative", "putative colorectal", "colorectal tumor", "putative colorectal tumor", "colorectal tumor suppressor", "putative colorectal tumor suppressor" ] }, { "record_id": "MONDO:0054636", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0054636", "0054636", "mim:617616", "617616" ] }, { "record_id": "MONDO:0054636", "record_type": "disease", "section": "disease_name", "phraselist": [ "skraban", "deardorff", "syndrome", "skraban deardorff", "deardorff syndrome", "skraban deardorff syndrome", "wdr26", "related", "disorder", "wdr26 related", "related disorder", "wdr26 related disorder", "skdeas" ] }, { "record_id": "MONDO:0054636", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0054636", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h7d7", "q9h7d7 1", "wdr26_human", "np_001108585", "glycoprotein", "wdr26", "cdw2", "gid7", "mip2", "pro0852", "skdeas" ] }, { "record_id": "MONDO:0054636", "record_type": "disease", "section": "proteins", "phraselist": [ "wd", "repeat", "containing", "protein", "26", "wd repeat", "repeat containing", "containing protein", "protein 26", "wd repeat containing", "repeat containing protein", "containing protein 26", "wd repeat containing protein", "repeat containing protein 26", "wd repeat containing protein 26", "cul4", "and", "ddb1", "associated", "wdr", "and ddb1", "ddb1 associated", "associated wdr", "wdr protein", "protein 2", "cul4 and", "and ddb1 associated", "ddb1 associated wdr", "associated wdr protein", "wdr protein 2", "cul4 and ddb1", "and ddb1 associated wdr", "ddb1 associated wdr protein", "associated wdr protein 2", "cul4 and ddb1 associated", "and ddb1 associated wdr protein", "ddb1 associated wdr protein 2", "gid", "complex", "subunit", "homolog", "gid complex", "complex subunit", "subunit 7", "7 homolog", "gid complex subunit", "complex subunit 7", "subunit 7 homolog", "gid complex subunit 7", "complex subunit 7 homolog", "gid complex subunit 7 homolog", "myocardial", "ischemic", "preconditioning", "up", "regulated", "myocardial ischemic", "ischemic preconditioning", "preconditioning up", "up regulated", "regulated protein", "myocardial ischemic preconditioning", "ischemic preconditioning up", "preconditioning up regulated", "up regulated protein", "regulated protein 2", "myocardial ischemic preconditioning up", "ischemic preconditioning up regulated", "preconditioning up regulated protein", "up regulated protein 2", "myocardial ischemic preconditioning up regulated", "ischemic preconditioning up regulated protein", "preconditioning up regulated protein 2", "isoform", "26 isoform", "isoform b", "protein 26 isoform", "26 isoform b", "containing protein 26 isoform", "protein 26 isoform b", "repeat containing protein 26 isoform", "containing protein 26 isoform b", "upregulated", "preconditioning upregulated", "upregulated protein", "ischemic preconditioning upregulated", "preconditioning upregulated protein", "upregulated protein 2", "myocardial ischemic preconditioning upregulated", "ischemic preconditioning upregulated protein", "preconditioning upregulated protein 2", "myocardial ischemic preconditioning upregulated protein", "ischemic preconditioning upregulated protein 2" ] }, { "record_id": "MONDO:0054749", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0054749", "0054749" ] }, { "record_id": "MONDO:0054749", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "body", "mass", "index", "quantitative", "trait", "locus", "19", "obsolete body", "body mass", "mass index", "index quantitative", "quantitative trait", "trait locus", "locus 19", "obsolete body mass", "body mass index", "mass index quantitative", "index quantitative trait", "quantitative trait locus", "trait locus 19", "obsolete body mass index", "body mass index quantitative", "mass index quantitative trait", "index quantitative trait locus", "quantitative trait locus 19", "obsolete body mass index quantitative", "body mass index quantitative trait", "mass index quantitative trait locus", "index quantitative trait locus 19", "obesity", "susceptibility", "to", "bmiq19", "susceptibility to", "obesity susceptibility", "to bmiq19", "obesity susceptibility to", "susceptibility to bmiq19" ] }, { "record_id": "MONDO:0054749", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0054749", "record_type": "disease", "section": "proteins", "phraselist": [ "o60266", "o60266 1", "adcy3_human", "np_001307542", "glycoprotein", "adcy3", "ac", "iii", "ac iii", "ac3", "bmiq19", "kiaa0511" ] }, { "record_id": "MONDO:0054749", "record_type": "disease", "section": "proteins", "phraselist": [ "adenylate", "cyclase", "type", "adenylate cyclase", "cyclase type", "type 3", "adenylate cyclase type", "cyclase type 3", "adenylate cyclase type 3", "4.6.1.1", "ac", "iii", "ac iii", "ac3", "atp", "pyrophosphate", "lyase", "atp pyrophosphate", "pyrophosphate lyase", "lyase 3", "atp pyrophosphate lyase", "pyrophosphate lyase 3", "atp pyrophosphate lyase 3", "type iii", "cyclase type iii", "adenylate cyclase type iii", "olfactive", "olfactive type", "cyclase olfactive", "adenylate cyclase olfactive", "cyclase olfactive type", "adenylate cyclase olfactive type", "adenylyl", "adenylyl cyclase", "cyclase 3", "adenylyl cyclase 3", "isoform", "3 isoform", "isoform 1", "type 3 isoform", "3 isoform 1", "cyclase type 3 isoform", "type 3 isoform 1", "adenylate cyclase type 3 isoform", "cyclase type 3 isoform 1", "adenylyl cyclase type", "adenylyl cyclase type iii" ] }, { "record_id": "MONDO:0054754", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0054754", "0054754", "mim:617900", "617900" ] }, { "record_id": "MONDO:0054754", "record_type": "disease", "section": "disease_name", "phraselist": [ "encephalopathy", "acute", "infection", "induced", "herpes", "specific", "susceptibility", "to", "infection induced", "herpes specific", "susceptibility to", "encephalopathy acute", "acute infection", "induced herpes", "to 8", "acute infection induced", "infection induced herpes", "induced herpes specific", "specific susceptibility", "susceptibility to 8", "encephalopathy acute infection", "infection induced herpes specific", "herpes specific susceptibility", "specific susceptibility to", "iiae8", "induced 8", "8 herpes", "infection induced 8", "8 herpes specific", "induced 8 herpes" ] }, { "record_id": "MONDO:0054754", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0054754", "record_type": "disease", "section": "proteins", "phraselist": [ "q9uhd2", "q9uhd2 1", "tbk1_human", "np_037386", "glycoprotein", "tbk1", "aiarv", "ftdals4", "iiae8", "nak", "t2k" ] }, { "record_id": "MONDO:0054754", "record_type": "disease", "section": "proteins", "phraselist": [ "serine/threonine", "protein", "kinase", "tbk1", "serine/threonine protein", "protein kinase", "kinase tbk1", "serine/threonine protein kinase", "protein kinase tbk1", "serine/threonine protein kinase tbk1", "2.7.11.1", "nf", "kb", "activating", "nf kb", "kb activating", "activating kinase", "nf kb activating", "kb activating kinase", "nf kb activating kinase", "kappa", "nf kappa", "kappa b", "b activating", "nf kappa b", "kappa b activating", "b activating kinase", "nf kappa b activating", "kappa b activating kinase", "nf kappa b activating kinase", "t2k", "tank", "binding", "tank binding", "binding kinase", "kinase 1", "tank binding kinase", "binding kinase 1", "tank binding kinase 1" ] }, { "record_id": "MONDO:0054763", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0054763", "0054763", "mim:617916", "617916" ] }, { "record_id": "MONDO:0054763", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodegeneration", "with", "brain", "iron", "accumulation", "neurodegeneration with", "with brain", "brain iron", "iron accumulation", "accumulation 7", "neurodegeneration with brain", "with brain iron", "brain iron accumulation", "iron accumulation 7", "neurodegeneration with brain iron", "with brain iron accumulation", "brain iron accumulation 7", "neurodegeneration with brain iron accumulation", "with brain iron accumulation 7", "nbia7" ] }, { "record_id": "MONDO:0054763", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0054763", "record_type": "disease", "section": "proteins", "phraselist": [ "q96d71", "q96d71 1", "reps1_human", "np_001122089", "glycoprotein", "reps1", "nbia7" ] }, { "record_id": "MONDO:0054763", "record_type": "disease", "section": "proteins", "phraselist": [ "ralbp1", "associated", "eps", "domain", "containing", "protein", "ralbp1 associated", "associated eps", "eps domain", "domain containing", "containing protein", "protein 1", "ralbp1 associated eps", "associated eps domain", "eps domain containing", "domain containing protein", "containing protein 1", "ralbp1 associated eps domain", "associated eps domain containing", "eps domain containing protein", "domain containing protein 1", "ralbp1 associated eps domain containing", "associated eps domain containing protein", "eps domain containing protein 1", "interacting", "ralbp1 interacting", "interacting protein", "ralbp1 interacting protein", "interacting protein 1", "ralbp1 interacting protein 1", "isoform", "1 isoform", "isoform b", "protein 1 isoform", "1 isoform b", "containing protein 1 isoform", "protein 1 isoform b", "domain containing protein 1 isoform", "containing protein 1 isoform b" ] }, { "record_id": "MONDO:0054764", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0054764", "0054764", "mim:617917", "617917" ] }, { "record_id": "MONDO:0054764", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodegeneration", "with", "brain", "iron", "accumulation", "neurodegeneration with", "with brain", "brain iron", "iron accumulation", "accumulation 8", "neurodegeneration with brain", "with brain iron", "brain iron accumulation", "iron accumulation 8", "neurodegeneration with brain iron", "with brain iron accumulation", "brain iron accumulation 8", "neurodegeneration with brain iron accumulation", "with brain iron accumulation 8", "nbia8" ] }, { "record_id": "MONDO:0054764", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0054764", "record_type": "disease", "section": "proteins", "phraselist": [ "p43155", "p43155 1", "cacp_human", "np_001244292", "glycoprotein", "crat", "cat1", "cat", "nbia8" ] }, { "record_id": "MONDO:0054764", "record_type": "disease", "section": "proteins", "phraselist": [ "carnitine", "acetyltransferase", "carnitine o", "o acetyltransferase", "carnitine o acetyltransferase", "2.3.1.137", "2.3.1.7", "cat", "acetylase", "carnitine acetylase", "carnitine acetyltransferase", "crat", "isoform", "acetyltransferase isoform", "isoform 2", "o acetyltransferase isoform", "acetyltransferase isoform 2", "carnitine o acetyltransferase isoform", "o acetyltransferase isoform 2", "carnitine o acetyltransferase isoform 2" ] }, { "record_id": "MONDO:0054771", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0054771", "0054771", "mim:617928", "617928" ] }, { "record_id": "MONDO:0054771", "record_type": "disease", "section": "disease_name", "phraselist": [ "keratoconus", "keratoconus 9", "ktcn9" ] }, { "record_id": "MONDO:0054771", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0054771", "record_type": "disease", "section": "proteins", "phraselist": [ "p0dph8", "p0dph8 1", "tba3d_human", "np_525125", "glycoprotein", "tuba3d", "h2", "alpha", "h2 alpha", "ktcn9", "tuba2" ] }, { "record_id": "MONDO:0054771", "record_type": "disease", "section": "proteins", "phraselist": [ "tubulin", "alpha", "3d", "chain", "tubulin alpha", "alpha 3d", "3d chain", "tubulin alpha 3d", "alpha 3d chain", "tubulin alpha 3d chain", "3.6.5.", "3c", "alpha tubulin", "tubulin 3c", "alpha tubulin 3c", "tubulin 3d", "alpha tubulin 3d", "alpha 3c", "3c chain", "tubulin alpha 3c", "alpha 3c chain", "tubulin alpha 3c chain", "isotype", "h2", "tubulin isotype", "isotype h2", "h2 alpha", "alpha tubulin isotype", "tubulin isotype h2", "isotype h2 alpha", "alpha tubulin isotype h2", "tubulin isotype h2 alpha", "alpha tubulin isotype h2 alpha", "alpha 2", "2 chain", "tubulin alpha 2", "alpha 2 chain", "tubulin alpha 2 chain", "3c/d", "alpha 3c/d", "3c/d chain", "tubulin alpha 3c/d", "alpha 3c/d chain", "tubulin alpha 3c/d chain" ] }, { "record_id": "MONDO:0054780", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0054780", "0054780", "mim:617948", "617948" ] }, { "record_id": "MONDO:0054780", "record_type": "disease", "section": "disease_name", "phraselist": [ "elliptocytosis", "elliptocytosis 3", "anemia", "neonatal", "hemolytic", "fatal", "or", "near", "neonatal hemolytic", "fatal or", "or near", "near fatal", "anemia neonatal", "hemolytic fatal", "fatal or near", "or near fatal", "anemia neonatal hemolytic", "neonatal hemolytic fatal", "hemolytic fatal or", "fatal or near fatal", "neonatal hemolytic fatal or", "hemolytic fatal or near", "el3" ] }, { "record_id": "MONDO:0054780", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0054780", "record_type": "disease", "section": "proteins", "phraselist": [ "p11277", "p11277 1", "sptb1_human", "np_001020029", "glycoprotein", "sptb", "el3", "hs2", "hsptb1", "sph2", "sptb1" ] }, { "record_id": "MONDO:0054780", "record_type": "disease", "section": "proteins", "phraselist": [ "spectrin", "beta", "chain", "erythrocytic", "spectrin beta", "beta chain", "spectrin beta chain", "chain erythrocytic", "beta chain erythrocytic", "spectrin beta chain erythrocytic", "beta i", "i spectrin", "beta i spectrin", "sp", "sp beta", "erythrocytic spectrin", "erythrocytic spectrin beta", "erythrocytic spectrin beta chain", "membrane", "cytoskeletal", "protein", "membrane cytoskeletal", "cytoskeletal protein", "membrane cytoskeletal protein", "tandil", "beta tandil", "spectrin beta tandil", "erythrocyte", "chain erythrocyte", "beta chain erythrocyte", "spectrin beta chain erythrocyte", "isoform", "erythrocytic isoform", "isoform a", "erythrocytic isoform a", "chain erythrocytic isoform", "beta chain erythrocytic isoform", "chain erythrocytic isoform a" ] }, { "record_id": "MONDO:0054794", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0054794", "0054794", "mim:617967", "617967" ] }, { "record_id": "MONDO:0054794", "record_type": "disease", "section": "disease_name", "phraselist": [ "hydrocephalus", "congenital", "with", "brain", "anomalies", "with brain", "brain anomalies", "hydrocephalus congenital", "congenital 3", "3 with", "with brain anomalies", "3 with brain", "hydrocephalus congenital 3", "congenital 3 with", "3 with brain anomalies", "hyc3", "nonsyndromic", "autosomal", "recessive", "autosomal recessive", "recessive 3", "hydrocephalus nonsyndromic", "nonsyndromic autosomal", "autosomal recessive 3", "nonsyndromic autosomal recessive", "hydrocephalus nonsyndromic autosomal", "nonsyndromic autosomal recessive 3" ] }, { "record_id": "MONDO:0060457", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060457", "0060457", "mim:617388", "617388" ] }, { "record_id": "MONDO:0060457", "record_type": "disease", "section": "disease_name", "phraselist": [ "autoinflammation", "with", "arthritis", "and", "dyskeratosis", "autoinflammation with", "with arthritis", "arthritis and", "and dyskeratosis", "autoinflammation with arthritis", "with arthritis and", "arthritis and dyskeratosis", "autoinflammation with arthritis and", "with arthritis and dyskeratosis", "autoinflammation with arthritis and dyskeratosis", "aiadk" ] }, { "record_id": "MONDO:0060457", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060457", "record_type": "disease", "section": "proteins", "phraselist": [ "q9c000", "q9c000 1", "nlrp1_human", "np_001028225", "nlrp1", "aiadk", "card7", "cided", "clr17.1", "defcap", "l/s", "defcap l/s", "jrrp", "kiaa0926", "mspc", "nac", "nalp1", "pp1044", "slev1", "vamas1" ] }, { "record_id": "MONDO:0060457", "record_type": "disease", "section": "proteins", "phraselist": [ "nacht", "lrr", "and", "pyd", "domains", "containing", "protein", "lrr and", "and pyd", "pyd domains", "domains containing", "containing protein", "protein 1", "nacht lrr", "lrr and pyd", "and pyd domains", "pyd domains containing", "domains containing protein", "containing protein 1", "nacht lrr and", "lrr and pyd domains", "and pyd domains containing", "pyd domains containing protein", "domains containing protein 1", "nacht lrr and pyd", "lrr and pyd domains containing", "and pyd domains containing protein", "pyd domains containing protein 1", "3.4.", "3.4. .", "3.6.4.", "caspase", "recruitment", "domain", "caspase recruitment", "recruitment domain", "domain containing", "protein 7", "caspase recruitment domain", "recruitment domain containing", "domain containing protein", "containing protein 7", "caspase recruitment domain containing", "recruitment domain containing protein", "domain containing protein 7", "caspase recruitment domain containing protein", "recruitment domain containing protein 7", "death", "effector", "filament", "forming", "ced", "like", "apoptosis", "death effector", "effector filament", "filament forming", "forming ced", "ced 4", "4 like", "like apoptosis", "apoptosis protein", "death effector filament", "effector filament forming", "filament forming ced", "forming ced 4", "ced 4 like", "4 like apoptosis", "like apoptosis protein", "death effector filament forming", "effector filament forming ced", "filament forming ced 4", "forming ced 4 like", "ced 4 like apoptosis", "4 like apoptosis protein", "death effector filament forming ced", "effector filament forming ced 4", "filament forming ced 4 like", "forming ced 4 like apoptosis", "ced 4 like apoptosis protein", "pyd containing", "and pyd containing", "pyd containing protein", "lrr and pyd containing", "and pyd containing protein", "pyd containing protein 1", "lrr and pyd containing protein", "and pyd containing protein 1", "isoform", "1 isoform", "isoform 5", "protein 1 isoform", "1 isoform 5", "containing protein 1 isoform", "protein 1 isoform 5", "domains containing protein 1 isoform", "containing protein 1 isoform 5", "leucine", "rich", "repeat", "pyrin", "leucine rich", "rich repeat", "repeat and", "pyrin domain", "containing 1", "nacht leucine", "leucine rich repeat", "rich repeat and", "repeat and pyd", "pyd pyrin", "nacht leucine rich", "leucine rich repeat and", "rich repeat and pyd", "and pyd pyrin", "pyd pyrin domain", "pyrin domain containing", "domain containing 1", "nacht leucine rich repeat", "leucine rich repeat and pyd", "repeat and pyd pyrin", "and pyd pyrin domain", "pyrin domain containing 1", "pyd containing 1", "repeat and pyd containing", "and pyd containing 1", "rich repeat and pyd containing", "repeat and pyd containing 1", "nucleotide", "binding", "nucleotide binding", "binding domain", "domain and", "and caspase", "nucleotide binding domain", "binding domain and", "domain and caspase", "and caspase recruitment", "nucleotide binding domain and", "binding domain and caspase", "domain and caspase recruitment", "and caspase recruitment domain", "nucleotide binding domain and caspase", "binding domain and caspase recruitment", "domain and caspase recruitment domain", "domain protein", "recruitment domain protein", "domain protein 7", "caspase recruitment domain protein", "recruitment domain protein 7", "caspase recruitment domain protein 7", "oligomerization", "binding oligomerization", "oligomerization domain", "and pyrin", "nucleotide binding oligomerization", "binding oligomerization domain", "domain leucine", "repeat and pyrin", "and pyrin domain", "nucleotide binding oligomerization domain", "oligomerization domain leucine", "domain leucine rich", "rich repeat and pyrin", "repeat and pyrin domain", "and pyrin domain containing", "binding oligomerization domain leucine", "oligomerization domain leucine rich", "domain leucine rich repeat", "leucine rich repeat and pyrin", "rich repeat and pyrin domain", "repeat and pyrin domain containing", "and pyrin domain containing 1" ] }, { "record_id": "MONDO:0060490", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060490", "0060490", "mim:617481", "617481" ] }, { "record_id": "MONDO:0060490", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "hypotonia", "and", "variable", "brain", "anomalies", "neurodevelopmental disorder", "disorder with", "with microcephaly", "and variable", "variable brain", "brain anomalies", "neurodevelopmental disorder with", "disorder with microcephaly", "microcephaly hypotonia", "hypotonia and", "and variable brain", "variable brain anomalies", "neurodevelopmental disorder with microcephaly", "with microcephaly hypotonia", "hypotonia and variable", "and variable brain anomalies", "disorder with microcephaly hypotonia", "microcephaly hypotonia and", "hypotonia and variable brain", "nmihba" ] }, { "record_id": "MONDO:0060490", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060490", "record_type": "disease", "section": "proteins", "phraselist": [ "q86tp1", "q86tp1 1", "prun1_human", "np_001290158", "glycoprotein", "prune1", "dres", "17", "dres 17", "dres17", "prune", "h prune", "htcd37", "nmihba" ] }, { "record_id": "MONDO:0060490", "record_type": "disease", "section": "proteins", "phraselist": [ "exopolyphosphatase", "prune1", "exopolyphosphatase prune1", "3.6.1.14", "3.6.1.25", "dres", "17", "dres 17", "dres17", "drosophila", "related", "expressed", "sequence", "drosophila related", "related expressed", "expressed sequence", "sequence 17", "drosophila related expressed", "related expressed sequence", "expressed sequence 17", "drosophila related expressed sequence", "related expressed sequence 17", "drosophila related expressed sequence 17", "htcd37", "protein", "prune", "homolog", "protein prune", "prune homolog", "homolog 1", "protein prune homolog", "prune homolog 1", "protein prune homolog 1", "isoform", "prune1 isoform", "isoform 2", "exopolyphosphatase prune1 isoform", "prune1 isoform 2", "exopolyphosphatase prune1 isoform 2", "hprune" ] }, { "record_id": "MONDO:0060496", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060496", "0060496", "mim:617519", "617519" ] }, { "record_id": "MONDO:0060496", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hypotonia", "neuropathy", "and", "deafness", "neurodevelopmental disorder", "disorder with", "with hypotonia", "and deafness", "neurodevelopmental disorder with", "disorder with hypotonia", "hypotonia neuropathy", "neuropathy and", "neurodevelopmental disorder with hypotonia", "with hypotonia neuropathy", "neuropathy and deafness", "disorder with hypotonia neuropathy", "hypotonia neuropathy and", "nedhnd" ] }, { "record_id": "MONDO:0060496", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060496", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h254", "q9h254 1", "sptn4_human", "np_066022", "glycoprotein", "sptbn4", "cmnd", "kiaa1642", "nedhnd", "qv", "spnb4", "sptbn3" ] }, { "record_id": "MONDO:0060496", "record_type": "disease", "section": "proteins", "phraselist": [ "spectrin", "beta", "chain", "non", "erythrocytic", "spectrin beta", "beta chain", "non erythrocytic", "erythrocytic 4", "spectrin beta chain", "chain non", "non erythrocytic 4", "beta chain non", "chain non erythrocytic", "spectrin beta chain non", "beta chain non erythrocytic", "chain non erythrocytic 4", "iv", "beta iv", "iv spectrin", "beta iv spectrin", "erythroid", "non erythroid", "erythroid beta", "chain 3", "spectrin non", "non erythroid beta", "erythroid beta chain", "beta chain 3", "spectrin non erythroid", "non erythroid beta chain", "erythroid beta chain 3", "spectrin non erythroid beta", "non erythroid beta chain 3", "brain", "brain 3", "chain brain", "beta chain brain", "chain brain 3", "spectrin beta chain brain", "beta chain brain 3", "isoform", "sigma1", "4 isoform", "isoform sigma1", "erythrocytic 4 isoform", "4 isoform sigma1", "non erythrocytic 4 isoform", "erythrocytic 4 isoform sigma1", "non erythrocytic 4 isoform sigma1" ] }, { "record_id": "MONDO:0060502", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060502", "0060502", "mim:617527", "617527" ] }, { "record_id": "MONDO:0060502", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "progressive", "microcephaly", "spasticity", "and", "brain", "anomalies", "neurodevelopmental disorder", "disorder with", "with progressive", "progressive microcephaly", "and brain", "brain anomalies", "neurodevelopmental disorder with", "disorder with progressive", "with progressive microcephaly", "microcephaly spasticity", "spasticity and", "and brain anomalies", "neurodevelopmental disorder with progressive", "disorder with progressive microcephaly", "progressive microcephaly spasticity", "spasticity and brain", "neurodevelopmental disorder with progressive microcephaly", "with progressive microcephaly spasticity", "microcephaly spasticity and", "spasticity and brain anomalies", "ndmsba" ] }, { "record_id": "MONDO:0060502", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060502", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y263", "q9y263 1", "plap_human", "np_001026859", "glycoprotein", "plaa", "doa1", "ndmsba", "pla2p", "plap" ] }, { "record_id": "MONDO:0060502", "record_type": "disease", "section": "proteins", "phraselist": [ "phospholipase", "activating", "protein", "phospholipase a", "a 2", "2 activating", "activating protein", "phospholipase a 2", "a 2 activating", "2 activating protein", "phospholipase a 2 activating", "a 2 activating protein", "phospholipase a 2 activating protein", "doa1", "homolog", "doa1 homolog", "pla2p", "plap", "isoform", "protein isoform", "isoform 1", "activating protein isoform", "protein isoform 1", "2 activating protein isoform", "activating protein isoform 1", "a 2 activating protein isoform", "2 activating protein isoform 1" ] }, { "record_id": "MONDO:0060507", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060507", "0060507", "mim:617547", "617547" ] }, { "record_id": "MONDO:0060507", "record_type": "disease", "section": "disease_name", "phraselist": [ "retinal", "dystrophy", "with", "or", "without", "macular", "staphyloma", "retinal dystrophy", "dystrophy with", "with or", "or without", "without macular", "macular staphyloma", "retinal dystrophy with", "dystrophy with or", "with or without", "or without macular", "without macular staphyloma", "retinal dystrophy with or", "dystrophy with or without", "with or without macular", "or without macular staphyloma", "retinal dystrophy with or without", "dystrophy with or without macular", "with or without macular staphyloma", "with macular", "dystrophy with macular", "with macular staphyloma", "retinal dystrophy with macular", "dystrophy with macular staphyloma", "retinal dystrophy with macular staphyloma", "rdms" ] }, { "record_id": "MONDO:0060507", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060507", "record_type": "disease", "section": "proteins", "phraselist": [ "o43822", "o43822 1", "cf410_human", "np_001258369", "cfap410", "c21orf2", "lrrc76", "rdms", "smdax", "yf5/a2" ] }, { "record_id": "MONDO:0060507", "record_type": "disease", "section": "proteins", "phraselist": [ "cilia", "and", "flagella", "associated", "protein", "410", "and flagella", "flagella associated", "associated protein", "protein 410", "cilia and", "and flagella associated", "flagella associated protein", "associated protein 410", "cilia and flagella", "and flagella associated protein", "flagella associated protein 410", "cilia and flagella associated", "and flagella associated protein 410", "c21orf", "humf09g8.5", "c21orf humf09g8.5", "leucine", "rich", "repeat", "containing", "76", "leucine rich", "rich repeat", "repeat containing", "containing protein", "protein 76", "leucine rich repeat", "rich repeat containing", "repeat containing protein", "containing protein 76", "leucine rich repeat containing", "rich repeat containing protein", "repeat containing protein 76", "leucine rich repeat containing protein", "rich repeat containing protein 76", "yf5/a2", "containing 76", "repeat containing 76", "rich repeat containing 76", "leucine rich repeat containing 76", "nuclear", "encoded", "mitochondrial", "c21orf2", "isoform", "nuclear encoded", "encoded mitochondrial", "mitochondrial protein", "protein c21orf2", "c21orf2 isoform", "isoform 2", "nuclear encoded mitochondrial", "encoded mitochondrial protein", "mitochondrial protein c21orf2", "protein c21orf2 isoform", "c21orf2 isoform 2", "nuclear encoded mitochondrial protein", "encoded mitochondrial protein c21orf2", "mitochondrial protein c21orf2 isoform", "protein c21orf2 isoform 2", "nuclear encoded mitochondrial protein c21orf2", "encoded mitochondrial protein c21orf2 isoform", "mitochondrial protein c21orf2 isoform 2" ] }, { "record_id": "MONDO:0060510", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060510", "0060510", "mim:617561", "617561" ] }, { "record_id": "MONDO:0060510", "record_type": "disease", "section": "disease_name", "phraselist": [ "cohen", "gibson", "syndrome", "cohen gibson", "gibson syndrome", "cohen gibson syndrome", "cogis" ] }, { "record_id": "MONDO:0060510", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060510", "record_type": "disease", "section": "proteins", "phraselist": [ "o75530", "o75530 1", "eed_human", "np_001294936", "glycoprotein", "eed", "cogis", "heed", "wait1" ] }, { "record_id": "MONDO:0060510", "record_type": "disease", "section": "proteins", "phraselist": [ "polycomb", "protein", "eed", "polycomb protein", "protein eed", "polycomb protein eed", "embryonic", "ectoderm", "development", "embryonic ectoderm", "ectoderm development", "development protein", "embryonic ectoderm development", "ectoderm development protein", "embryonic ectoderm development protein", "wait", "wait 1", "wd", "associating", "with", "integrin", "cytoplasmic", "tails", "wd protein", "protein associating", "associating with", "with integrin", "integrin cytoplasmic", "cytoplasmic tails", "tails 1", "wd protein associating", "protein associating with", "associating with integrin", "with integrin cytoplasmic", "integrin cytoplasmic tails", "cytoplasmic tails 1", "wd protein associating with", "protein associating with integrin", "associating with integrin cytoplasmic", "with integrin cytoplasmic tails", "integrin cytoplasmic tails 1", "wd protein associating with integrin", "protein associating with integrin cytoplasmic", "associating with integrin cytoplasmic tails", "with integrin cytoplasmic tails 1", "heed", "isoform", "eed isoform", "isoform c", "protein eed isoform", "eed isoform c", "polycomb protein eed isoform", "protein eed isoform c", "polycomb protein eed isoform c" ] }, { "record_id": "MONDO:0060527", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060527", "0060527", "mim:617596", "617596" ] }, { "record_id": "MONDO:0060527", "record_type": "disease", "section": "disease_name", "phraselist": [ "maleylacetoacetate", "isomerase", "deficiency", "maleylacetoacetate isomerase", "isomerase deficiency", "maleylacetoacetate isomerase deficiency", "maaid" ] }, { "record_id": "MONDO:0060527", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060527", "record_type": "disease", "section": "proteins", "phraselist": [ "o43708", "o43708 1", "maai_human", "np_001299589", "gstz1", "gstz1 1", "maaid", "maai", "mai" ] }, { "record_id": "MONDO:0060527", "record_type": "disease", "section": "proteins", "phraselist": [ "maleylacetoacetate", "isomerase", "maleylacetoacetate isomerase", "2.5.1.18", "5.2.1.2", "gstz1", "gstz1 1", "glutathione", "transferase", "zeta", "glutathione s", "s transferase", "transferase zeta", "zeta 1", "glutathione s transferase", "s transferase zeta", "transferase zeta 1", "glutathione s transferase zeta", "s transferase zeta 1", "glutathione s transferase zeta 1", "maai", "hydroxyalkyl", "lyase", "hydroxyalkyl glutathione", "glutathione lyase", "s hydroxyalkyl", "hydroxyalkyl glutathione lyase", "s hydroxyalkyl glutathione", "s hydroxyalkyl glutathione lyase", "alkyltransferase", "s alkyltransferase", "glutathione s alkyltransferase", "aralkyltransferase", "s aralkyltransferase", "glutathione s aralkyltransferase", "aryltransferase", "s aryltransferase", "glutathione s aryltransferase", "glutathione transferase", "glutathione transferase zeta", "glutathione transferase zeta 1", "isoform", "isomerase isoform", "isoform 3", "maleylacetoacetate isomerase isoform", "isomerase isoform 3", "maleylacetoacetate isomerase isoform 3", "maleylacetone", "maleylacetone isomerase" ] }, { "record_id": "MONDO:0060532", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060532", "0060532", "mim:617602", "617602" ] }, { "record_id": "MONDO:0060532", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "heart", "defects", "and", "skeletal", "malformations", "syndrome", "congenital heart", "heart defects", "defects and", "and skeletal", "skeletal malformations", "malformations syndrome", "congenital heart defects", "heart defects and", "defects and skeletal", "and skeletal malformations", "skeletal malformations syndrome", "congenital heart defects and", "heart defects and skeletal", "defects and skeletal malformations", "and skeletal malformations syndrome", "congenital heart defects and skeletal", "heart defects and skeletal malformations", "defects and skeletal malformations syndrome", "marfanoid", "habitus", "facial", "dysmorphism", "abnormality", "defect", "marfanoid habitus", "habitus facial", "facial dysmorphism", "dysmorphism skeletal", "skeletal abnormality", "abnormality heart", "heart defect", "defect syndrome", "marfanoid habitus facial", "habitus facial dysmorphism", "facial dysmorphism skeletal", "dysmorphism skeletal abnormality", "skeletal abnormality heart", "abnormality heart defect", "heart defect syndrome", "marfanoid habitus facial dysmorphism", "habitus facial dysmorphism skeletal", "facial dysmorphism skeletal abnormality", "dysmorphism skeletal abnormality heart", "skeletal abnormality heart defect", "abnormality heart defect syndrome", "marfanoid habitus facial dysmorphism skeletal", "habitus facial dysmorphism skeletal abnormality", "facial dysmorphism skeletal abnormality heart", "dysmorphism skeletal abnormality heart defect", "skeletal abnormality heart defect syndrome", "chdskm" ] }, { "record_id": "MONDO:0060532", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060532", "record_type": "disease", "section": "proteins", "phraselist": [ "p00519", "p00519 1", "abl1_human", "np_005148", "glycoprotein", "abl1", "abl", "bcr", "bcr abl", "chdskm", "jtk7", "bcr/abl", "c abl1", "c abl", "p150", "v abl" ] }, { "record_id": "MONDO:0060532", "record_type": "disease", "section": "proteins", "phraselist": [ "tyrosine", "protein", "kinase", "abl1", "tyrosine protein", "protein kinase", "kinase abl1", "tyrosine protein kinase", "protein kinase abl1", "tyrosine protein kinase abl1", "2.7.10.2", "abl", "protooncogene", "nonreceptor", "abl protooncogene", "protooncogene 1", "1 nonreceptor", "nonreceptor tyrosine", "tyrosine kinase", "abl protooncogene 1", "protooncogene 1 nonreceptor", "1 nonreceptor tyrosine", "nonreceptor tyrosine kinase", "abl protooncogene 1 nonreceptor", "protooncogene 1 nonreceptor tyrosine", "1 nonreceptor tyrosine kinase", "abl protooncogene 1 nonreceptor tyrosine", "protooncogene 1 nonreceptor tyrosine kinase", "abelson", "murine", "leukemia", "viral", "oncogene", "homolog", "abelson murine", "murine leukemia", "leukemia viral", "viral oncogene", "oncogene homolog", "homolog 1", "abelson murine leukemia", "murine leukemia viral", "leukemia viral oncogene", "viral oncogene homolog", "oncogene homolog 1", "abelson murine leukemia viral", "murine leukemia viral oncogene", "leukemia viral oncogene homolog", "viral oncogene homolog 1", "abelson murine leukemia viral oncogene", "murine leukemia viral oncogene homolog", "leukemia viral oncogene homolog 1", "abelson tyrosine", "kinase 1", "abelson tyrosine protein", "protein kinase 1", "abelson tyrosine protein kinase", "tyrosine protein kinase 1", "abelson tyrosine protein kinase 1", "bcr", "p190", "bcr abl1", "abl1 p190", "bcr abl1 p190", "bcr/abl", "e8a2", "fusion", "bcr/abl e8a2", "e8a2 fusion", "bcr/abl e8a2 fusion", "bcr/abl1", "e1a2", "bcr/abl1 e1a2", "e1a2 fusion", "fusion protein", "bcr/abl1 e1a2 fusion", "e1a2 fusion protein", "bcr/abl1 e1a2 fusion protein", "e3a1", "bcr/abl1 fusion", "protein e3a1", "bcr/abl1 fusion protein", "fusion protein e3a1", "bcr/abl1 fusion protein e3a1", "bcr::abl1", "bcr::abl1 fusion", "bcr::abl1 fusion protein", "proto", "proto oncogene", "oncogene c", "c abl", "proto oncogene c", "oncogene c abl", "proto oncogene c abl", "bcr/c", "bcr/c abl", "abl oncogene", "oncogene protein", "bcr/c abl oncogene", "abl oncogene protein", "bcr/c abl oncogene protein", "receptor", "oncogene 1", "receptor tyrosine", "c abl oncogene", "abl oncogene 1", "1 receptor", "receptor tyrosine kinase", "c abl oncogene 1", "oncogene 1 receptor", "1 receptor tyrosine", "abl oncogene 1 receptor", "oncogene 1 receptor tyrosine", "1 receptor tyrosine kinase", "chimeric", "chimeric bcr::abl1", "bcr::abl1 protein", "chimeric bcr::abl1 protein", "p150", "oncogene tyrosine", "proto oncogene tyrosine", "oncogene tyrosine protein", "proto oncogene tyrosine protein", "oncogene tyrosine protein kinase", "proto oncogene tyrosine protein kinase", "oncogene tyrosine protein kinase abl1", "isoform", "abl1 isoform", "isoform a", "kinase abl1 isoform", "abl1 isoform a", "protein kinase abl1 isoform", "kinase abl1 isoform a", "tyrosine protein kinase abl1 isoform", "protein kinase abl1 isoform a", "v abl", "abl abelson", "v abl abelson", "abl abelson murine", "v abl abelson murine", "abl abelson murine leukemia", "v abl abelson murine leukemia", "abl abelson murine leukemia viral" ] }, { "record_id": "MONDO:0060550", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060550", "0060550", "mim:617642", "617642" ] }, { "record_id": "MONDO:0060550", "record_type": "disease", "section": "disease_name", "phraselist": [ "polydactyly", "postaxial", "type", "a7", "type a7", "polydactyly postaxial", "postaxial type", "postaxial type a7", "polydactyly postaxial type", "papa7", "postaxial a7", "polydactyly postaxial a7" ] }, { "record_id": "MONDO:0060550", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060550", "record_type": "disease", "section": "proteins", "phraselist": [ "q6ipm2", "q6ipm2 1", "iqce_human", "np_001274430", "glycoprotein", "iqce", "1700028p05rik", "kiaa1023", "papa7" ] }, { "record_id": "MONDO:0060550", "record_type": "disease", "section": "proteins", "phraselist": [ "iq", "domain", "containing", "protein", "iq domain", "domain containing", "containing protein", "protein e", "iq domain containing", "domain containing protein", "containing protein e", "iq domain containing protein", "domain containing protein e", "iq domain containing protein e", "isoform", "e isoform", "isoform 5", "protein e isoform", "e isoform 5", "containing protein e isoform", "protein e isoform 5", "domain containing protein e isoform", "containing protein e isoform 5" ] }, { "record_id": "MONDO:0060551", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060551", "0060551", "mim:617643", "617643" ] }, { "record_id": "MONDO:0060551", "record_type": "disease", "section": "disease_name", "phraselist": [ "cerebellar", "atrophy", "developmental", "delay", "and", "seizures", "cerebellar atrophy", "developmental delay", "and seizures", "atrophy developmental", "delay and", "cerebellar atrophy developmental", "atrophy developmental delay", "developmental delay and", "delay and seizures", "cerebellar atrophy developmental delay", "developmental delay and seizures", "cadeds" ] }, { "record_id": "MONDO:0060554", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060554", "0060554", "mim:617660", "617660" ] }, { "record_id": "MONDO:0060554", "record_type": "disease", "section": "disease_name", "phraselist": [ "vertebral", "cardiac", "renal", "and", "limb", "defects", "syndrome", "and limb", "limb defects", "defects syndrome", "syndrome 1", "vertebral cardiac", "cardiac renal", "renal and", "and limb defects", "limb defects syndrome", "defects syndrome 1", "renal and limb", "and limb defects syndrome", "limb defects syndrome 1", "vertebral cardiac renal", "cardiac renal and", "renal and limb defects", "and limb defects syndrome 1", "vcrl1" ] }, { "record_id": "MONDO:0060554", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060554", "record_type": "disease", "section": "proteins", "phraselist": [ "p46952", "p46952 1", "3hao_human", "np_036337", "haao", "hao", "3 hao", "vcrl1", "h3hao" ] }, { "record_id": "MONDO:0060554", "record_type": "disease", "section": "proteins", "phraselist": [ "hydroxyanthranilate", "dioxygenase", "3 hydroxyanthranilate", "hydroxyanthranilate 3", "3 4", "4 dioxygenase", "3 hydroxyanthranilate 3", "hydroxyanthranilate 3 4", "3 4 dioxygenase", "3 hydroxyanthranilate 3 4", "hydroxyanthranilate 3 4 dioxygenase", "3 hydroxyanthranilate 3 4 dioxygenase", "1.13.11.6", "hao", "3 hao", "oxygenase", "hydroxyanthranilate oxygenase", "3 hydroxyanthranilate oxygenase", "hydroxyanthranilic", "acid", "3 hydroxyanthranilic", "hydroxyanthranilic acid", "acid dioxygenase", "3 hydroxyanthranilic acid", "hydroxyanthranilic acid dioxygenase", "3 hydroxyanthranilic acid dioxygenase", "had", "h3hao" ] }, { "record_id": "MONDO:0060555", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060555", "0060555", "mim:617661", "617661" ] }, { "record_id": "MONDO:0060555", "record_type": "disease", "section": "disease_name", "phraselist": [ "vertebral", "cardiac", "renal", "and", "limb", "defects", "syndrome", "and limb", "limb defects", "defects syndrome", "syndrome 2", "vertebral cardiac", "cardiac renal", "renal and", "and limb defects", "limb defects syndrome", "defects syndrome 2", "renal and limb", "and limb defects syndrome", "limb defects syndrome 2", "vertebral cardiac renal", "cardiac renal and", "renal and limb defects", "and limb defects syndrome 2", "vcrl2" ] }, { "record_id": "MONDO:0060555", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060555", "record_type": "disease", "section": "proteins", "phraselist": [ "q16719", "q16719 1", "kynu_human", "np_001028170", "glycoprotein", "kynu", "kynuu", "vcrl2" ] }, { "record_id": "MONDO:0060555", "record_type": "disease", "section": "proteins", "phraselist": [ "kynureninase", "3.7.1.3", "kynurenine", "hydrolase", "l kynurenine", "kynurenine hydrolase", "l kynurenine hydrolase", "isoform", "kynureninase isoform", "isoform b", "kynureninase isoform b" ] }, { "record_id": "MONDO:0060556", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060556", "0060556", "mim:617662", "617662" ] }, { "record_id": "MONDO:0060556", "record_type": "disease", "section": "disease_name", "phraselist": [ "joint", "laxity", "short", "stature", "and", "myopia", "joint laxity", "short stature", "and myopia", "laxity short", "stature and", "joint laxity short", "laxity short stature", "short stature and", "stature and myopia", "joint laxity short stature", "short stature and myopia", "jlsm" ] }, { "record_id": "MONDO:0060562", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060562", "0060562", "mim:617668", "617668" ] }, { "record_id": "MONDO:0060562", "record_type": "disease", "section": "disease_name", "phraselist": [ "encephalopathy", "neonatal", "severe", "with", "lactic", "acidosis", "and", "brain", "abnormalities", "neonatal severe", "with lactic", "lactic acidosis", "acidosis and", "and brain", "brain abnormalities", "encephalopathy neonatal", "severe with", "with lactic acidosis", "lactic acidosis and", "acidosis and brain", "and brain abnormalities", "encephalopathy neonatal severe", "neonatal severe with", "severe with lactic", "with lactic acidosis and", "lactic acidosis and brain", "acidosis and brain abnormalities", "neonatal severe with lactic", "severe with lactic acidosis", "with lactic acidosis and brain", "lactic acidosis and brain abnormalities", "nelaba" ] }, { "record_id": "MONDO:0060564", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060564", "0060564", "mim:617671", "617671" ] }, { "record_id": "MONDO:0060564", "record_type": "disease", "section": "disease_name", "phraselist": [ "helix", "syndrome", "helix syndrome", "hypohidrosis", "electrolyte", "imbalance", "lacrimal", "gland", "dysfunction", "ichthyosis", "xerostomia", "hypohidrosis electrolyte", "electrolyte imbalance", "imbalance lacrimal", "lacrimal gland", "gland dysfunction", "dysfunction ichthyosis", "ichthyosis xerostomia", "xerostomia syndrome", "hypohidrosis electrolyte imbalance", "electrolyte imbalance lacrimal", "imbalance lacrimal gland", "lacrimal gland dysfunction", "gland dysfunction ichthyosis", "dysfunction ichthyosis xerostomia", "ichthyosis xerostomia syndrome", "hypohidrosis electrolyte imbalance lacrimal", "electrolyte imbalance lacrimal gland", "imbalance lacrimal gland dysfunction", "lacrimal gland dysfunction ichthyosis", "gland dysfunction ichthyosis xerostomia", "dysfunction ichthyosis xerostomia syndrome", "hypohidrosis electrolyte imbalance lacrimal gland", "electrolyte imbalance lacrimal gland dysfunction", "imbalance lacrimal gland dysfunction ichthyosis", "lacrimal gland dysfunction ichthyosis xerostomia", "gland dysfunction ichthyosis xerostomia syndrome" ] }, { "record_id": "MONDO:0060568", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060568", "0060568", "mim:617682", "617682" ] }, { "record_id": "MONDO:0060568", "record_type": "disease", "section": "disease_name", "phraselist": [ "pilarowski", "bjornsson", "syndrome", "pilarowski bjornsson", "bjornsson syndrome", "pilarowski bjornsson syndrome", "pilbos" ] }, { "record_id": "MONDO:0060577", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060577", "0060577", "mim:617709", "617709" ] }, { "record_id": "MONDO:0060577", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "ataxia", "and", "seizures", "neurodevelopmental disorder", "disorder with", "with microcephaly", "and seizures", "neurodevelopmental disorder with", "disorder with microcephaly", "microcephaly ataxia", "ataxia and", "neurodevelopmental disorder with microcephaly", "with microcephaly ataxia", "ataxia and seizures", "disorder with microcephaly ataxia", "microcephaly ataxia and", "nedmas" ] }, { "record_id": "MONDO:0060578", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060578", "0060578", "mim:617710", "617710" ] }, { "record_id": "MONDO:0060578", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "mitochondrial", "with", "abnormal", "movements", "and", "lactic", "acidosis", "or", "without", "seizures", "neurodevelopmental disorder", "with abnormal", "abnormal movements", "movements and", "and lactic", "lactic acidosis", "with or", "or without", "without seizures", "disorder mitochondrial", "mitochondrial with", "with abnormal movements", "abnormal movements and", "movements and lactic", "and lactic acidosis", "acidosis with", "with or without", "or without seizures", "neurodevelopmental disorder mitochondrial", "mitochondrial with abnormal", "with abnormal movements and", "abnormal movements and lactic", "movements and lactic acidosis", "lactic acidosis with", "acidosis with or", "with or without seizures", "disorder mitochondrial with", "mitochondrial with abnormal movements", "with abnormal movements and lactic", "abnormal movements and lactic acidosis", "and lactic acidosis with", "lactic acidosis with or", "acidosis with or without", "wars2", "deficiency", "wars2 deficiency", "related", "wars2 related", "related disorder", "wars2 related disorder", "tryptophanyl", "trna", "synthetase", "mitochondrial tryptophanyl", "tryptophanyl trna", "trna synthetase", "synthetase deficiency", "mitochondrial tryptophanyl trna", "tryptophanyl trna synthetase", "trna synthetase deficiency", "mitochondrial tryptophanyl trna synthetase", "tryptophanyl trna synthetase deficiency", "mitochondrial tryptophanyl trna synthetase deficiency", "nemmlas" ] }, { "record_id": "MONDO:0060582", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060582", "0060582", "mim:617717", "617717" ] }, { "record_id": "MONDO:0060582", "record_type": "disease", "section": "disease_name", "phraselist": [ "auditory", "neuropathy", "optic", "atrophy", "syndrome", "auditory neuropathy", "neuropathy optic", "optic atrophy", "atrophy syndrome", "auditory neuropathy optic", "neuropathy optic atrophy", "optic atrophy syndrome", "auditory neuropathy optic atrophy", "neuropathy optic atrophy syndrome", "auditory neuropathy optic atrophy syndrome", "anoa", "and", "neuropathy and", "and optic", "auditory neuropathy and", "neuropathy and optic", "and optic atrophy", "auditory neuropathy and optic", "neuropathy and optic atrophy", "auditory neuropathy and optic atrophy", "multiple", "mitochondrial", "dysfunctions", "9a", "multiple mitochondrial", "mitochondrial dysfunctions", "dysfunctions syndrome", "syndrome 9a", "multiple mitochondrial dysfunctions", "mitochondrial dysfunctions syndrome", "dysfunctions syndrome 9a", "multiple mitochondrial dysfunctions syndrome", "mitochondrial dysfunctions syndrome 9a", "multiple mitochondrial dysfunctions syndrome 9a" ] }, { "record_id": "MONDO:0060589", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060589", "0060589", "mim:617732", "617732" ] }, { "record_id": "MONDO:0060589", "record_type": "disease", "section": "disease_name", "phraselist": [ "facial", "palsy", "congenital", "with", "ptosis", "and", "velopharyngeal", "dysfunction", "facial palsy", "with ptosis", "ptosis and", "and velopharyngeal", "velopharyngeal dysfunction", "palsy congenital", "congenital with", "with ptosis and", "ptosis and velopharyngeal", "and velopharyngeal dysfunction", "facial palsy congenital", "congenital with ptosis", "with ptosis and velopharyngeal", "ptosis and velopharyngeal dysfunction", "palsy congenital with", "congenital with ptosis and", "with ptosis and velopharyngeal dysfunction", "congenitla", "palsy congenitla", "congenitla with", "facial palsy congenitla", "congenitla with ptosis", "palsy congenitla with", "congenitla with ptosis and", "fpvepd" ] }, { "record_id": "MONDO:0060591", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060591", "0060591", "mim:617744", "617744" ] }, { "record_id": "MONDO:0060591", "record_type": "disease", "section": "disease_name", "phraselist": [ "immunodeficiency", "developmental", "delay", "and", "hypohomocysteinemia", "developmental delay", "and hypohomocysteinemia", "immunodeficiency developmental", "delay and", "immunodeficiency developmental delay", "developmental delay and", "delay and hypohomocysteinemia", "developmental delay and hypohomocysteinemia", "imddhh" ] }, { "record_id": "MONDO:0060593", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060593", "0060593" ] }, { "record_id": "MONDO:0060593", "record_type": "disease", "section": "disease_name", "phraselist": [ "obsolete", "actn3", "deficiency", "obsolete actn3", "actn3 deficiency", "obsolete actn3 deficiency", "alpha", "actinin", "alpha actinin", "actinin 3", "3 deficiency", "alpha actinin 3", "actinin 3 deficiency", "alpha actinin 3 deficiency", "sprinting", "performance", "sprinting performance" ] }, { "record_id": "MONDO:0060593", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060593", "record_type": "disease", "section": "proteins", "phraselist": [ "q08043", "q08043 1", "actn3_human", "np_001095", "glycoprotein", "actn3", "actn3d" ] }, { "record_id": "MONDO:0060593", "record_type": "disease", "section": "proteins", "phraselist": [ "alpha", "actinin", "alpha actinin", "actinin 3", "alpha actinin 3", "skeletal", "muscle", "isoform", "actinin skeletal", "skeletal muscle", "muscle isoform", "isoform 3", "alpha actinin skeletal", "actinin skeletal muscle", "skeletal muscle isoform", "muscle isoform 3", "alpha actinin skeletal muscle", "actinin skeletal muscle isoform", "skeletal muscle isoform 3", "alpha actinin skeletal muscle isoform", "actinin skeletal muscle isoform 3", "actin", "cross", "linking", "protein", "f actin", "actin cross", "cross linking", "linking protein", "f actin cross", "actin cross linking", "cross linking protein", "f actin cross linking", "actin cross linking protein", "f actin cross linking protein", "3 isoform", "isoform 1", "actinin 3 isoform", "3 isoform 1", "alpha actinin 3 isoform", "actinin 3 isoform 1", "alpha actinin 3 isoform 1" ] }, { "record_id": "MONDO:0060611", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060611", "0060611", "mim:617780", "617780" ] }, { "record_id": "MONDO:0060611", "record_type": "disease", "section": "disease_name", "phraselist": [ "combined", "immunodeficiency", "and", "megaloblastic", "anemia", "with", "or", "without", "hyperhomocysteinemia", "combined immunodeficiency", "immunodeficiency and", "and megaloblastic", "megaloblastic anemia", "anemia with", "with or", "or without", "without hyperhomocysteinemia", "combined immunodeficiency and", "immunodeficiency and megaloblastic", "and megaloblastic anemia", "megaloblastic anemia with", "anemia with or", "with or without", "or without hyperhomocysteinemia", "combined immunodeficiency and megaloblastic", "immunodeficiency and megaloblastic anemia", "and megaloblastic anemia with", "megaloblastic anemia with or", "anemia with or without", "with or without hyperhomocysteinemia", "combined immunodeficiency and megaloblastic anemia", "immunodeficiency and megaloblastic anemia with", "and megaloblastic anemia with or", "megaloblastic anemia with or without", "anemia with or without hyperhomocysteinemia", "cimah" ] }, { "record_id": "MONDO:0060621", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060621", "0060621", "mim:617802", "617802" ] }, { "record_id": "MONDO:0060621", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "seizures", "and", "cortical", "atrophy", "neurodevelopmental disorder", "disorder with", "with microcephaly", "and cortical", "cortical atrophy", "neurodevelopmental disorder with", "disorder with microcephaly", "microcephaly seizures", "seizures and", "and cortical atrophy", "neurodevelopmental disorder with microcephaly", "with microcephaly seizures", "seizures and cortical", "disorder with microcephaly seizures", "microcephaly seizures and", "seizures and cortical atrophy", "ndmsca" ] }, { "record_id": "MONDO:0060622", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060622", "0060622", "mim:617804", "617804" ] }, { "record_id": "MONDO:0060622", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "severe", "motor", "impairment", "and", "absent", "language", "neurodevelopmental disorder", "disorder with", "with severe", "severe motor", "motor impairment", "impairment and", "and absent", "absent language", "neurodevelopmental disorder with", "disorder with severe", "with severe motor", "severe motor impairment", "motor impairment and", "impairment and absent", "and absent language", "neurodevelopmental disorder with severe", "disorder with severe motor", "with severe motor impairment", "severe motor impairment and", "motor impairment and absent", "impairment and absent language", "neurodevelopmental disorder with severe motor", "disorder with severe motor impairment", "with severe motor impairment and", "severe motor impairment and absent", "motor impairment and absent language", "dhx30", "related", "complex", "dhx30 related", "related complex", "complex neurodevelopmental", "dhx30 related complex", "related complex neurodevelopmental", "complex neurodevelopmental disorder", "dhx30 related complex neurodevelopmental", "related complex neurodevelopmental disorder", "dhx30 related complex neurodevelopmental disorder", "delay", "intellectual", "disability", "ataxia", "feeding", "difficulty", "syndrome", "neurodevelopmental delay", "delay intellectual", "intellectual disability", "disability ataxia", "ataxia feeding", "feeding difficulty", "difficulty syndrome", "neurodevelopmental delay intellectual", "delay intellectual disability", "intellectual disability ataxia", "disability ataxia feeding", "ataxia feeding difficulty", "feeding difficulty syndrome", "neurodevelopmental delay intellectual disability", "delay intellectual disability ataxia", "intellectual disability ataxia feeding", "disability ataxia feeding difficulty", "ataxia feeding difficulty syndrome", "neurodevelopmental delay intellectual disability ataxia", "delay intellectual disability ataxia feeding", "intellectual disability ataxia feeding difficulty", "disability ataxia feeding difficulty syndrome", "nedmial", "variable", "with variable", "variable motor", "motor and", "and language", "language impairment", "disorder with variable", "with variable motor", "variable motor and", "motor and language", "and language impairment", "neurodevelopmental disorder with variable", "disorder with variable motor", "with variable motor and", "variable motor and language", "motor and language impairment", "neurodevelopmental disorder with variable motor", "disorder with variable motor and", "with variable motor and language", "variable motor and language impairment" ] }, { "record_id": "MONDO:0060624", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060624", "0060624", "mim:617807", "617807" ] }, { "record_id": "MONDO:0060624", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "ataxic", "gait", "absent", "speech", "and", "decreased", "cortical", "white", "matter", "neurodevelopmental disorder", "disorder with", "with ataxic", "ataxic gait", "absent speech", "and decreased", "decreased cortical", "cortical white", "white matter", "neurodevelopmental disorder with", "disorder with ataxic", "with ataxic gait", "gait absent", "speech and", "and decreased cortical", "decreased cortical white", "cortical white matter", "neurodevelopmental disorder with ataxic", "disorder with ataxic gait", "ataxic gait absent", "gait absent speech", "absent speech and", "speech and decreased", "and decreased cortical white", "decreased cortical white matter", "neurodevelopmental disorder with ataxic gait", "with ataxic gait absent", "ataxic gait absent speech", "absent speech and decreased", "speech and decreased cortical", "and decreased cortical white matter", "ndagscw" ] }, { "record_id": "MONDO:0060627", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060627", "0060627", "mim:617810", "617810" ] }, { "record_id": "MONDO:0060627", "record_type": "disease", "section": "disease_name", "phraselist": [ "glycosylphosphatidylinositol", "biosynthesis", "defect", "15", "glycosylphosphatidylinositol biosynthesis", "biosynthesis defect", "defect 15", "glycosylphosphatidylinositol biosynthesis defect", "biosynthesis defect 15", "glycosylphosphatidylinositol biosynthesis defect 15", "gpibd15" ] }, { "record_id": "MONDO:0060627", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060627", "record_type": "disease", "section": "proteins", "phraselist": [ "o43292", "o43292 1", "gpaa1_human", "np_003792", "glycoprotein", "gpaa1", "gaa1", "gpibd15", "hgaa1" ] }, { "record_id": "MONDO:0060627", "record_type": "disease", "section": "proteins", "phraselist": [ "gpi", "anchor", "transamidase", "component", "gpaa1", "gpi anchor", "anchor transamidase", "transamidase component", "component gpaa1", "gpi anchor transamidase", "anchor transamidase component", "transamidase component gpaa1", "gpi anchor transamidase component", "anchor transamidase component gpaa1", "gpi anchor transamidase component gpaa1", "gaa1", "protein", "homolog", "gaa1 protein", "protein homolog", "gaa1 protein homolog", "gpaa1p", "attachment", "gpaa1p anchor", "anchor attachment", "attachment protein", "protein 1", "1 homolog", "gpaa1p anchor attachment", "anchor attachment protein", "attachment protein 1", "protein 1 homolog", "gpaa1p anchor attachment protein", "anchor attachment protein 1", "attachment protein 1 homolog", "gpaa1p anchor attachment protein 1", "anchor attachment protein 1 homolog", "gpi anchor attachment", "gpi anchor attachment protein", "gpi anchor attachment protein 1", "subunit", "gpi transamidase", "transamidase subunit", "gpi transamidase subunit", "glycosylphosphatidylinositol", "glycosylphosphatidylinositol anchor", "attachment 1", "1 protein", "glycosylphosphatidylinositol anchor attachment", "anchor attachment 1", "attachment 1 protein", "glycosylphosphatidylinositol anchor attachment 1", "anchor attachment 1 protein", "glycosylphosphatidylinositol anchor attachment 1 protein", "gaa1p", "yeast", "1 gaa1p", "gaa1p yeast", "yeast homolog", "protein 1 gaa1p", "attachment protein 1 gaa1p", "1 gaa1p yeast", "gaa1p yeast homolog", "glycophosphatidylinositol", "glycophosphatidylinositol anchor", "glycophosphatidylinositol anchor attachment", "glycophosphatidylinositol anchor attachment 1", "glycosylphosphatidylinositol anchor attachment protein", "glycosylphosphatidylinositol anchor attachment protein 1", "hgaa1" ] }, { "record_id": "MONDO:0060629", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060629", "0060629", "mim:617820", "617820" ] }, { "record_id": "MONDO:0060629", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "or", "without", "hyperkinetic", "movements", "and", "seizures", "autosomal", "recessive", "neurodevelopmental disorder", "disorder with", "with or", "or without", "without hyperkinetic", "hyperkinetic movements", "movements and", "and seizures", "autosomal recessive", "neurodevelopmental disorder with", "disorder with or", "with or without", "or without hyperkinetic", "without hyperkinetic movements", "hyperkinetic movements and", "movements and seizures", "seizures autosomal", "neurodevelopmental disorder with or", "disorder with or without", "with or without hyperkinetic", "or without hyperkinetic movements", "without hyperkinetic movements and", "hyperkinetic movements and seizures", "and seizures autosomal", "seizures autosomal recessive", "neurodevelopmental disorder with or without", "disorder with or without hyperkinetic", "with or without hyperkinetic movements", "or without hyperkinetic movements and", "without hyperkinetic movements and seizures", "movements and seizures autosomal", "and seizures autosomal recessive", "ndhmsr" ] }, { "record_id": "MONDO:0060641", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060641", "0060641", "mim:617864", "617864" ] }, { "record_id": "MONDO:0060641", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "or", "without", "seizures", "and", "gait", "abnormalities", "neurodevelopmental disorder", "disorder with", "with or", "or without", "without seizures", "seizures and", "and gait", "gait abnormalities", "neurodevelopmental disorder with", "disorder with or", "with or without", "or without seizures", "without seizures and", "seizures and gait", "and gait abnormalities", "neurodevelopmental disorder with or", "disorder with or without", "with or without seizures", "or without seizures and", "without seizures and gait", "seizures and gait abnormalities", "neurodevelopmental disorder with or without", "disorder with or without seizures", "with or without seizures and", "or without seizures and gait", "without seizures and gait abnormalities", "nedsga" ] }, { "record_id": "MONDO:0060641", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060641", "record_type": "disease", "section": "proteins", "phraselist": [ "p48058", "p48058 1", "gria4_human", "np_001070712", "glycoprotein", "gria4", "glur4c", "glur4", "glurd", "glua4", "atd", "glua4 atd", "nedsga" ] }, { "record_id": "MONDO:0060641", "record_type": "disease", "section": "proteins", "phraselist": [ "glutamate", "receptor", "glutamate receptor", "receptor 4", "glutamate receptor 4", "ampa", "selective", "ampa selective", "selective glutamate", "ampa selective glutamate", "selective glutamate receptor", "ampa selective glutamate receptor", "selective glutamate receptor 4", "ampa selective glutamate receptor 4", "glur", "glur 4", "glur d", "glur4", "ionotropic", "receptor ionotropic", "ampa 4", "glutamate receptor ionotropic", "ionotropic ampa", "receptor ionotropic ampa", "ionotropic ampa 4", "glutamate receptor ionotropic ampa", "receptor ionotropic ampa 4", "isoform", "precursor", "4 isoform", "isoform 3", "3 precursor", "receptor 4 isoform", "4 isoform 3", "isoform 3 precursor", "glutamate receptor 4 isoform", "receptor 4 isoform 3", "4 isoform 3 precursor", "glutamate receptor 4 isoform 3", "receptor 4 isoform 3 precursor", "ionotrophic", "receptor ionotrophic", "ionotrophic ampa", "glutamate receptor ionotrophic", "ionotrophic ampa 4", "receptor ionotrophic ampa" ] }, { "record_id": "MONDO:0060642", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060642", "0060642", "mim:617865", "617865" ] }, { "record_id": "MONDO:0060642", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "movement", "abnormalities", "abnormal", "gait", "and", "autistic", "features", "neurodevelopmental disorder", "disorder with", "with movement", "movement abnormalities", "abnormal gait", "and autistic", "autistic features", "neurodevelopmental disorder with", "disorder with movement", "with movement abnormalities", "abnormalities abnormal", "gait and", "and autistic features", "neurodevelopmental disorder with movement", "disorder with movement abnormalities", "movement abnormalities abnormal", "abnormalities abnormal gait", "abnormal gait and", "gait and autistic", "neurodevelopmental disorder with movement abnormalities", "with movement abnormalities abnormal", "movement abnormalities abnormal gait", "abnormal gait and autistic", "gait and autistic features", "nedmaga" ] }, { "record_id": "MONDO:0060642", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060642", "record_type": "disease", "section": "proteins", "phraselist": [ "q9hcj5", "q9hcj5 1", "zswm6_human", "np_065979", "glycoprotein", "zswim6", "afnd", "kiaa1577", "nedmaga" ] }, { "record_id": "MONDO:0060642", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "swim", "domain", "containing", "protein", "zinc finger", "finger swim", "swim domain", "domain containing", "containing protein", "protein 6", "zinc finger swim", "finger swim domain", "swim domain containing", "domain containing protein", "containing protein 6", "zinc finger swim domain", "finger swim domain containing", "swim domain containing protein", "domain containing protein 6", "zinc finger swim domain containing", "finger swim domain containing protein", "swim domain containing protein 6", "containing 6", "domain containing 6", "swim domain containing 6" ] }, { "record_id": "MONDO:0060659", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060659", "0060659", "mim:617903", "617903" ] }, { "record_id": "MONDO:0060659", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "poor", "language", "and", "loss", "of", "hand", "skills", "neurodevelopmental disorder", "disorder with", "with poor", "poor language", "language and", "and loss", "loss of", "of hand", "hand skills", "neurodevelopmental disorder with", "disorder with poor", "with poor language", "poor language and", "language and loss", "and loss of", "loss of hand", "of hand skills", "neurodevelopmental disorder with poor", "disorder with poor language", "with poor language and", "poor language and loss", "language and loss of", "and loss of hand", "loss of hand skills", "neurodevelopmental disorder with poor language", "disorder with poor language and", "with poor language and loss", "poor language and loss of", "language and loss of hand", "and loss of hand skills", "ndplhs" ] }, { "record_id": "MONDO:0060659", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060659", "record_type": "disease", "section": "proteins", "phraselist": [ "o75899", "o75899 1", "gabr2_human", "np_005449", "glycoprotein", "gabbr2", "dee59", "eiee59", "gababr2", "gpr51", "gprc3b", "hg20", "hrihfb2099", "ndplhs" ] }, { "record_id": "MONDO:0060659", "record_type": "disease", "section": "proteins", "phraselist": [ "gamma", "aminobutyric", "acid", "type", "receptor", "subunit", "gamma aminobutyric", "aminobutyric acid", "acid type", "type b", "b receptor", "receptor subunit", "subunit 2", "gamma aminobutyric acid", "aminobutyric acid type", "acid type b", "type b receptor", "b receptor subunit", "receptor subunit 2", "gamma aminobutyric acid type", "aminobutyric acid type b", "acid type b receptor", "type b receptor subunit", "b receptor subunit 2", "gamma aminobutyric acid type b", "aminobutyric acid type b receptor", "acid type b receptor subunit", "type b receptor subunit 2", "protein", "coupled", "51", "g protein", "protein coupled", "coupled receptor", "receptor 51", "g protein coupled", "protein coupled receptor", "coupled receptor 51", "g protein coupled receptor", "protein coupled receptor 51", "g protein coupled receptor 51", "gaba", "gaba b", "receptor 2", "gaba b receptor", "b receptor 2", "gaba b receptor 2", "r2", "r2 subunit", "receptor r2", "b receptor r2", "receptor r2 subunit", "gaba b receptor r2", "b receptor r2 subunit", "b r2", "gaba b r2", "br2", "gaba br2", "gababr2", "gb2", "hg20", "acid gaba", "aminobutyric acid gaba", "gamma aminobutyric acid gaba", "acid gaba b", "acid b", "aminobutyric acid b", "acid b receptor", "gamma aminobutyric acid b", "aminobutyric acid b receptor", "acid b receptor 2", "gamma aminobutyric acid b receptor", "aminobutyric acid b receptor 2", "precursor", "2 precursor", "subunit 2 precursor", "receptor subunit 2 precursor", "b receptor subunit 2 precursor" ] }, { "record_id": "MONDO:0060662", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060662", "0060662", "mim:617911", "617911" ] }, { "record_id": "MONDO:0060662", "record_type": "disease", "section": "disease_name", "phraselist": [ "diamond", "blackfan", "anemia", "like", "diamond blackfan", "blackfan anemia", "anemia like", "diamond blackfan anemia", "blackfan anemia like", "diamond blackfan anemia like", "dbal" ] }, { "record_id": "MONDO:0060662", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060662", "record_type": "disease", "section": "proteins", "phraselist": [ "p01588", "p01588 1", "epo_human", "np_000790", "glycoprotein", "epo", "dbal", "ecyt5", "ep", "mvcd2" ] }, { "record_id": "MONDO:0060662", "record_type": "disease", "section": "proteins", "phraselist": [ "erythropoietin", "epoetin", "precursor", "erythropoietin precursor" ] }, { "record_id": "MONDO:0060663", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060663", "0060663", "mim:617912", "617912" ] }, { "record_id": "MONDO:0060663", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "heart", "defects", "multiple", "types", "congenital heart", "heart defects", "multiple types", "congenital heart defects", "defects multiple", "types 5", "heart defects multiple", "defects multiple types", "multiple types 5", "congenital heart defects multiple", "heart defects multiple types", "chtd5" ] }, { "record_id": "MONDO:0060663", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060663", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bwx5", "q9bwx5 1", "gata5_human", "np_536721", "glycoprotein", "gata5", "chtd5", "gatas", "bb379o24.1" ] }, { "record_id": "MONDO:0060663", "record_type": "disease", "section": "proteins", "phraselist": [ "transcription", "factor", "gata", "transcription factor", "factor gata", "gata 5", "transcription factor gata", "factor gata 5", "transcription factor gata 5", "binding", "gata binding", "binding factor", "factor 5", "gata binding factor", "binding factor 5", "gata binding factor 5" ] }, { "record_id": "MONDO:0060666", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060666", "0060666", "mim:617915", "617915" ] }, { "record_id": "MONDO:0060666", "record_type": "disease", "section": "disease_name", "phraselist": [ "hypotonia", "ataxia", "developmental", "delay", "and", "tooth", "enamel", "defect", "syndrome", "developmental delay", "and tooth", "tooth enamel", "enamel defect", "defect syndrome", "hypotonia ataxia", "ataxia developmental", "delay and", "and tooth enamel", "tooth enamel defect", "enamel defect syndrome", "ataxia developmental delay", "developmental delay and", "delay and tooth", "and tooth enamel defect", "tooth enamel defect syndrome", "hypotonia ataxia developmental", "developmental delay and tooth", "delay and tooth enamel", "and tooth enamel defect syndrome", "haddts" ] }, { "record_id": "MONDO:0060666", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060666", "record_type": "disease", "section": "proteins", "phraselist": [ "q13363", "q13363 1", "ctbp1_human", "np_001012632", "glycoprotein", "ctbp1", "bars", "ctbp", "haddts" ] }, { "record_id": "MONDO:0060666", "record_type": "disease", "section": "proteins", "phraselist": [ "terminal", "binding", "protein", "c terminal", "terminal binding", "binding protein", "protein 1", "c terminal binding", "terminal binding protein", "binding protein 1", "c terminal binding protein", "terminal binding protein 1", "c terminal binding protein 1", "1.1.1.", "isoform", "1 isoform", "isoform 2", "protein 1 isoform", "1 isoform 2", "binding protein 1 isoform", "protein 1 isoform 2", "terminal binding protein 1 isoform", "binding protein 1 isoform 2", "ctbp1", "brefeldin", "ribosylated", "substrate", "brefeldin a", "a ribosylated", "ribosylated substrate", "brefeldin a ribosylated", "a ribosylated substrate", "brefeldin a ribosylated substrate" ] }, { "record_id": "MONDO:0060702", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060702", "0060702", "mim:617974", "617974" ] }, { "record_id": "MONDO:0060702", "record_type": "disease", "section": "disease_name", "phraselist": [ "spondyloepimetaphyseal", "dysplasia", "di", "rocco", "type", "spondyloepimetaphyseal dysplasia", "di rocco", "rocco type", "dysplasia di", "di rocco type", "spondyloepimetaphyseal dysplasia di", "dysplasia di rocco", "spondyloepimetaphyseal dysplasia di rocco", "dysplasia di rocco type", "semddr" ] }, { "record_id": "MONDO:0060702", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060702", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nuq7", "q9nuq7 1", "ufsp2_human", "np_060829", "glycoprotein", "ufsp2", "bhd", "c4orf20", "dee106", "semddr" ] }, { "record_id": "MONDO:0060702", "record_type": "disease", "section": "proteins", "phraselist": [ "ufm1", "specific", "protease", "ufm1 specific", "specific protease", "protease 2", "ufm1 specific protease", "specific protease 2", "ufm1 specific protease 2", "3.4.22.", "ufsp2" ] }, { "record_id": "MONDO:0060704", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060704", "0060704", "mim:617977", "617977" ] }, { "record_id": "MONDO:0060704", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "spastic", "quadriplegia", "and", "brain", "abnormalities", "or", "without", "seizures", "neurodevelopmental disorder", "disorder with", "with spastic", "spastic quadriplegia", "quadriplegia and", "and brain", "brain abnormalities", "abnormalities with", "with or", "or without", "without seizures", "neurodevelopmental disorder with", "disorder with spastic", "with spastic quadriplegia", "spastic quadriplegia and", "quadriplegia and brain", "and brain abnormalities", "brain abnormalities with", "abnormalities with or", "with or without", "or without seizures", "neurodevelopmental disorder with spastic", "disorder with spastic quadriplegia", "with spastic quadriplegia and", "spastic quadriplegia and brain", "quadriplegia and brain abnormalities", "and brain abnormalities with", "brain abnormalities with or", "abnormalities with or without", "with or without seizures", "neurodevelopmental disorder with spastic quadriplegia", "disorder with spastic quadriplegia and", "with spastic quadriplegia and brain", "spastic quadriplegia and brain abnormalities", "quadriplegia and brain abnormalities with", "and brain abnormalities with or", "brain abnormalities with or without", "abnormalities with or without seizures", "nedsbas" ] }, { "record_id": "MONDO:0060704", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060704", "record_type": "disease", "section": "proteins", "phraselist": [ "q5mnz6", "q5mnz6 1", "wipi3_human", "np_062559", "wdr45b", "nedsbas", "wdr45l", "wipi", "wipi 3", "wipi3" ] }, { "record_id": "MONDO:0060704", "record_type": "disease", "section": "proteins", "phraselist": [ "wd", "repeat", "domain", "phosphoinositide", "interacting", "protein", "wd repeat", "repeat domain", "domain phosphoinositide", "phosphoinositide interacting", "interacting protein", "protein 3", "wd repeat domain", "repeat domain phosphoinositide", "domain phosphoinositide interacting", "phosphoinositide interacting protein", "interacting protein 3", "wd repeat domain phosphoinositide", "repeat domain phosphoinositide interacting", "domain phosphoinositide interacting protein", "phosphoinositide interacting protein 3", "wd repeat domain phosphoinositide interacting", "repeat domain phosphoinositide interacting protein", "domain phosphoinositide interacting protein 3", "isoform", "3 isoform", "isoform 1", "protein 3 isoform", "3 isoform 1", "interacting protein 3 isoform", "protein 3 isoform 1", "phosphoinositide interacting protein 3 isoform", "interacting protein 3 isoform 1", "45", "like", "repeat protein", "protein 45", "45 like", "wd repeat protein", "repeat protein 45", "protein 45 like", "wd repeat protein 45", "repeat protein 45 like", "wd repeat protein 45 like", "containing", "repeat containing", "containing protein", "wd repeat containing", "repeat containing protein", "containing protein 45", "wd repeat containing protein", "repeat containing protein 45", "containing protein 45 like", "wd repeat containing protein 45", "repeat containing protein 45 like", "45b", "protein 45b", "containing protein 45b", "repeat containing protein 45b", "wd repeat containing protein 45b", "wdr45", "wdr45 like", "like protein", "wdr45 like protein", "wipi", "wipi 3", "wipi3", "long", "wipi3 long", "wipi49", "wipi49 like", "wipi49 like protein" ] }, { "record_id": "MONDO:0060707", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060707", "0060707", "mim:617982", "617982" ] }, { "record_id": "MONDO:0060707", "record_type": "disease", "section": "disease_name", "phraselist": [ "ververi", "brady", "syndrome", "ververi brady", "brady syndrome", "syndrome 1", "ververi brady syndrome", "brady syndrome 1", "ververi brady syndrome 1", "verbras1" ] }, { "record_id": "MONDO:0060707", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060707", "record_type": "disease", "section": "proteins", "phraselist": [ "q2tal8", "q2tal8 1", "qric1_human", "np_001307509", "glycoprotein", "qrich1", "ab", "dip", "ab dip", "verbras1", "verbras" ] }, { "record_id": "MONDO:0060707", "record_type": "disease", "section": "proteins", "phraselist": [ "transcriptional", "regulator", "qrich1", "transcriptional regulator", "regulator qrich1", "transcriptional regulator qrich1", "glutamine", "rich", "protein", "glutamine rich", "rich protein", "protein 1", "glutamine rich protein", "rich protein 1", "glutamine rich protein 1" ] }, { "record_id": "MONDO:0060711", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060711", "0060711", "mim:617988", "617988" ] }, { "record_id": "MONDO:0060711", "record_type": "disease", "section": "disease_name", "phraselist": [ "jaberi", "elahi", "syndrome", "jaberi elahi", "elahi syndrome", "jaberi elahi syndrome", "jabels" ] }, { "record_id": "MONDO:0060711", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060711", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bx10", "q9bx10 1", "gtpb2_human", "np_001273145", "glycoprotein", "gtpbp2", "jabels" ] }, { "record_id": "MONDO:0060711", "record_type": "disease", "section": "proteins", "phraselist": [ "gtp", "binding", "protein", "gtp binding", "binding protein", "protein 2", "gtp binding protein", "binding protein 2", "gtp binding protein 2", "isoform", "2 isoform", "isoform b", "protein 2 isoform", "2 isoform b", "binding protein 2 isoform", "protein 2 isoform b", "gtp binding protein 2 isoform", "binding protein 2 isoform b" ] }, { "record_id": "MONDO:0060713", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060713", "0060713", "mim:617992", "617992" ] }, { "record_id": "MONDO:0060713", "record_type": "disease", "section": "disease_name", "phraselist": [ "deafness", "congenital", "heart", "defects", "and", "posterior", "embryotoxon", "congenital heart", "heart defects", "and posterior", "posterior embryotoxon", "deafness congenital", "congenital heart defects", "defects and", "and posterior embryotoxon", "deafness congenital heart", "heart defects and", "defects and posterior", "deafness congenital heart defects", "congenital heart defects and", "heart defects and posterior", "defects and posterior embryotoxon", "dche" ] }, { "record_id": "MONDO:0060713", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060713", "record_type": "disease", "section": "proteins", "phraselist": [ "p78504", "p78504 1", "jag1_human", "np_000205", "glycoprotein", "jag1", "ags1", "ags", "ahd", "aws", "cd339", "cmt2hh", "dche", "hj1", "jagl1" ] }, { "record_id": "MONDO:0060713", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "jagged", "protein jagged", "jagged 1", "protein jagged 1", "jagged1", "hj1", "1 protein", "jagged 1 protein", "precursor", "1 precursor", "jagged 1 precursor", "protein jagged 1 precursor" ] }, { "record_id": "MONDO:0060714", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060714", "0060714", "mim:617993", "617993" ] }, { "record_id": "MONDO:0060714", "record_type": "disease", "section": "disease_name", "phraselist": [ "tumoral", "calcinosis", "hyperphosphatemic", "familial", "tumoral calcinosis", "calcinosis hyperphosphatemic", "hyperphosphatemic familial", "familial 2", "tumoral calcinosis hyperphosphatemic", "calcinosis hyperphosphatemic familial", "hyperphosphatemic familial 2", "hftc2" ] }, { "record_id": "MONDO:0060714", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060714", "record_type": "disease", "section": "proteins", "phraselist": [ "q9gzv9", "q9gzv9 1", "fgf23_human", "np_065689", "glycoprotein", "fgf23", "adhr", "fgfn", "hftc2", "hpdr2", "hypf", "phptc", "pro9828" ] }, { "record_id": "MONDO:0060714", "record_type": "disease", "section": "proteins", "phraselist": [ "fibroblast", "growth", "factor", "23", "fibroblast growth", "growth factor", "factor 23", "fibroblast growth factor", "growth factor 23", "fibroblast growth factor 23", "fgf", "fgf 23", "phosphatonin", "tumor", "derived", "hypophosphatemia", "inducing", "tumor derived", "derived hypophosphatemia", "hypophosphatemia inducing", "inducing factor", "tumor derived hypophosphatemia", "derived hypophosphatemia inducing", "hypophosphatemia inducing factor", "tumor derived hypophosphatemia inducing", "derived hypophosphatemia inducing factor", "tumor derived hypophosphatemia inducing factor", "precursor", "23 precursor", "factor 23 precursor", "growth factor 23 precursor", "fibroblast growth factor 23 precursor" ] }, { "record_id": "MONDO:0060715", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060715", "0060715", "mim:617994", "617994" ] }, { "record_id": "MONDO:0060715", "record_type": "disease", "section": "disease_name", "phraselist": [ "tumoral", "calcinosis", "hyperphosphatemic", "familial", "tumoral calcinosis", "calcinosis hyperphosphatemic", "hyperphosphatemic familial", "familial 3", "tumoral calcinosis hyperphosphatemic", "calcinosis hyperphosphatemic familial", "hyperphosphatemic familial 3", "hftc3" ] }, { "record_id": "MONDO:0060715", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060715", "record_type": "disease", "section": "proteins", "phraselist": [ "q9uef7", "q9uef7 1", "klot_human", "np_004786", "glycoprotein", "kl", "hftc3", "kla" ] }, { "record_id": "MONDO:0060715", "record_type": "disease", "section": "proteins", "phraselist": [ "klotho", "3.2.1.31", "alpha", "alpha klotho", "beta", "glucuronidase", "beta glucuronidase", "precursor", "klotho precursor" ] }, { "record_id": "MONDO:0060720", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060720", "0060720" ] }, { "record_id": "MONDO:0060720", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "disorder", "of", "glycosylation", "with", "defective", "fucosylation", "congenital disorder", "disorder of", "of glycosylation", "glycosylation with", "with defective", "defective fucosylation", "congenital disorder of", "disorder of glycosylation", "of glycosylation with", "glycosylation with defective", "with defective fucosylation", "congenital disorder of glycosylation", "disorder of glycosylation with", "of glycosylation with defective", "glycosylation with defective fucosylation", "congenital disorder of glycosylation with", "disorder of glycosylation with defective", "of glycosylation with defective fucosylation", "cdgf" ] }, { "record_id": "MONDO:0060720", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060720", "record_type": "disease", "section": "proteins", "phraselist": [ "q9byc5", "q9byc5 1", "fut8_human", "np_004471", "glycoprotein", "fut8", "cdgf1", "cdgf" ] }, { "record_id": "MONDO:0060720", "record_type": "disease", "section": "proteins", "phraselist": [ "alpha", "fucosyltransferase", "1 6", "alpha 1", "6 fucosyltransferase", "alpha 1 6", "1 6 fucosyltransferase", "2.4.1.68", "alpha1", "6fuct", "alpha1 6fuct", "fucosyltransferase 8", "gdp", "fuc:n", "acetyl", "beta", "glucosaminide", "gdp l", "l fuc:n", "fuc:n acetyl", "acetyl beta", "beta d", "d glucosaminide", "glucosaminide alpha1", "alpha1 6", "gdp l fuc:n", "l fuc:n acetyl", "fuc:n acetyl beta", "acetyl beta d", "beta d glucosaminide", "d glucosaminide alpha1", "glucosaminide alpha1 6", "alpha1 6 fucosyltransferase", "gdp l fuc:n acetyl", "l fuc:n acetyl beta", "fuc:n acetyl beta d", "acetyl beta d glucosaminide", "beta d glucosaminide alpha1", "d glucosaminide alpha1 6", "glucosaminide alpha1 6 fucosyltransferase", "gdp l fuc:n acetyl beta", "l fuc:n acetyl beta d", "fuc:n acetyl beta d glucosaminide", "acetyl beta d glucosaminide alpha1", "beta d glucosaminide alpha1 6", "d glucosaminide alpha1 6 fucosyltransferase", "fucose", "glycoprotein", "gdp fucose", "glycoprotein fucosyltransferase", "fucose glycoprotein", "gdp fucose glycoprotein", "fucose glycoprotein fucosyltransferase", "gdp fucose glycoprotein fucosyltransferase", "glycoprotein 6", "6 alpha", "alpha l", "l fucosyltransferase", "glycoprotein 6 alpha", "6 alpha l", "alpha l fucosyltransferase", "glycoprotein 6 alpha l", "6 alpha l fucosyltransferase", "glycoprotein 6 alpha l fucosyltransferase", "isoform", "fucosyltransferase isoform", "isoform b", "fucosyltransferase isoform b", "6 fucosyltransferase isoform", "1 6 fucosyltransferase isoform", "6 fucosyltransferase isoform b", "8 alpha", "fucosyltransferase 8 alpha", "8 alpha 1" ] }, { "record_id": "MONDO:0060724", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060724", "0060724", "mim:618010", "618010" ] }, { "record_id": "MONDO:0060724", "record_type": "disease", "section": "disease_name", "phraselist": [ "glycosylphosphatidylinositol", "biosynthesis", "defect", "17", "glycosylphosphatidylinositol biosynthesis", "biosynthesis defect", "defect 17", "glycosylphosphatidylinositol biosynthesis defect", "biosynthesis defect 17", "glycosylphosphatidylinositol biosynthesis defect 17", "gpibd17" ] }, { "record_id": "MONDO:0060724", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060724", "record_type": "disease", "section": "proteins", "phraselist": [ "q14442", "q14442 1", "pigh_human", "np_004560", "pigh", "gpi", "gpi h" ] }, { "record_id": "MONDO:0060724", "record_type": "disease", "section": "proteins", "phraselist": [ "phosphatidylinositol", "acetylglucosaminyltransferase", "subunit", "phosphatidylinositol n", "n acetylglucosaminyltransferase", "acetylglucosaminyltransferase subunit", "subunit h", "phosphatidylinositol n acetylglucosaminyltransferase", "n acetylglucosaminyltransferase subunit", "acetylglucosaminyltransferase subunit h", "phosphatidylinositol n acetylglucosaminyltransferase subunit", "n acetylglucosaminyltransferase subunit h", "phosphatidylinositol n acetylglucosaminyltransferase subunit h", "pig", "pig h", "glycan", "biosynthesis", "class", "protein", "phosphatidylinositol glycan", "glycan biosynthesis", "biosynthesis class", "class h", "h protein", "phosphatidylinositol glycan biosynthesis", "glycan biosynthesis class", "biosynthesis class h", "class h protein", "phosphatidylinositol glycan biosynthesis class", "glycan biosynthesis class h", "biosynthesis class h protein", "phosphatidylinositol glycan biosynthesis class h", "glycan biosynthesis class h protein", "isoform", "h isoform", "isoform 1", "subunit h isoform", "h isoform 1", "acetylglucosaminyltransferase subunit h isoform", "subunit h isoform 1", "n acetylglucosaminyltransferase subunit h isoform", "acetylglucosaminyltransferase subunit h isoform 1" ] }, { "record_id": "MONDO:0060729", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060729", "0060729", "mim:618015", "618015" ] }, { "record_id": "MONDO:0060729", "record_type": "disease", "section": "disease_name", "phraselist": [ "protoporphyria", "erythropoietic", "protoporphyria erythropoietic", "erythropoietic 2", "protoporphyria erythropoietic 2", "epp2" ] }, { "record_id": "MONDO:0060729", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060729", "record_type": "disease", "section": "proteins", "phraselist": [ "o76031", "o76031 1", "clpx_human", "np_006651", "glycoprotein", "clpx", "epp2" ] }, { "record_id": "MONDO:0060729", "record_type": "disease", "section": "proteins", "phraselist": [ "atp", "dependent", "clpx", "like", "chaperone", "mitochondrial", "atp dependent", "dependent clpx", "clpx like", "like chaperone", "atp dependent clpx", "dependent clpx like", "clpx like chaperone", "chaperone mitochondrial", "atp dependent clpx like", "dependent clpx like chaperone", "like chaperone mitochondrial", "atp dependent clpx like chaperone", "clpx like chaperone mitochondrial", "3.6.4.10", "clp", "protease", "binding", "subunit", "dependent clp", "clp protease", "protease atp", "atp binding", "binding subunit", "subunit clpx", "atp dependent clp", "dependent clp protease", "clp protease atp", "protease atp binding", "atp binding subunit", "binding subunit clpx", "subunit clpx like", "like mitochondrial", "atp dependent clp protease", "dependent clp protease atp", "clp protease atp binding", "protease atp binding subunit", "atp binding subunit clpx", "binding subunit clpx like", "clpx like mitochondrial", "atp dependent clp protease atp", "dependent clp protease atp binding", "clp protease atp binding subunit", "protease atp binding subunit clpx", "atp binding subunit clpx like", "subunit clpx like mitochondrial", "precursor", "mitochondrial precursor", "chaperone mitochondrial precursor", "like chaperone mitochondrial precursor", "caseinolytic", "matrix", "peptidase", "caseinolytic mitochondrial", "mitochondrial matrix", "matrix peptidase", "peptidase chaperone", "chaperone subunit", "subunit x", "caseinolytic mitochondrial matrix", "mitochondrial matrix peptidase", "matrix peptidase chaperone", "peptidase chaperone subunit", "chaperone subunit x", "caseinolytic mitochondrial matrix peptidase", "mitochondrial matrix peptidase chaperone", "matrix peptidase chaperone subunit", "peptidase chaperone subunit x", "caseinolytic mitochondrial matrix peptidase chaperone", "mitochondrial matrix peptidase chaperone subunit", "matrix peptidase chaperone subunit x", "homolog", "clpx caseinolytic", "caseinolytic peptidase", "peptidase x", "x homolog", "clpx caseinolytic peptidase", "caseinolytic peptidase x", "peptidase x homolog", "clpx caseinolytic peptidase x", "caseinolytic peptidase x homolog", "clpx caseinolytic peptidase x homolog", "caseinolytic protease", "protease x", "clpx caseinolytic protease", "caseinolytic protease x", "protease x homolog", "clpx caseinolytic protease x", "caseinolytic protease x homolog", "clpx caseinolytic protease x homolog", "energy", "regulator", "of", "proteolysis", "energy dependent", "dependent regulator", "regulator of", "of proteolysis", "energy dependent regulator", "dependent regulator of", "regulator of proteolysis", "energy dependent regulator of", "dependent regulator of proteolysis", "energy dependent regulator of proteolysis" ] }, { "record_id": "MONDO:0060733", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060733", "0060733", "mim:618022", "618022" ] }, { "record_id": "MONDO:0060733", "record_type": "disease", "section": "disease_name", "phraselist": [ "humerofemoral", "hypoplasia", "with", "radiotibial", "ray", "deficiency", "humerofemoral hypoplasia", "hypoplasia with", "with radiotibial", "radiotibial ray", "ray deficiency", "humerofemoral hypoplasia with", "hypoplasia with radiotibial", "with radiotibial ray", "radiotibial ray deficiency", "humerofemoral hypoplasia with radiotibial", "hypoplasia with radiotibial ray", "with radiotibial ray deficiency", "humerofemoral hypoplasia with radiotibial ray", "hypoplasia with radiotibial ray deficiency", "hhrrd" ] }, { "record_id": "MONDO:0060733", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060733", "record_type": "disease", "section": "proteins", "phraselist": [ "q6uxx9", "q6uxx9 1", "rspo2_human", "np_001269792", "glycoprotein", "rspo2", "cristin2", "hhrrd", "pro34209", "tetams2" ] }, { "record_id": "MONDO:0060733", "record_type": "disease", "section": "proteins", "phraselist": [ "spondin", "r spondin", "spondin 2", "r spondin 2", "homolog", "2 homolog", "spondin 2 homolog", "r spondin 2 homolog", "isoform", "precursor", "2 isoform", "isoform 2", "2 precursor", "spondin 2 isoform", "2 isoform 2", "isoform 2 precursor", "r spondin 2 isoform", "spondin 2 isoform 2", "2 isoform 2 precursor", "r spondin 2 isoform 2", "spondin 2 isoform 2 precursor", "roof", "plate", "specific", "roof plate", "plate specific", "specific spondin", "roof plate specific", "plate specific spondin", "specific spondin 2", "roof plate specific spondin", "plate specific spondin 2", "roof plate specific spondin 2", "hrspo2" ] }, { "record_id": "MONDO:0060745", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060745", "0060745", "mim:618060", "618060" ] }, { "record_id": "MONDO:0060745", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "or", "without", "epilepsy", "cerebellar", "ataxia", "intellectual developmental", "developmental disorder", "disorder with", "with or", "or without", "without epilepsy", "epilepsy or", "or cerebellar", "cerebellar ataxia", "intellectual developmental disorder", "developmental disorder with", "disorder with or", "with or without", "or without epilepsy", "without epilepsy or", "epilepsy or cerebellar", "or cerebellar ataxia", "intellectual developmental disorder with", "developmental disorder with or", "disorder with or without", "with or without epilepsy", "or without epilepsy or", "without epilepsy or cerebellar", "epilepsy or cerebellar ataxia", "intellectual developmental disorder with or", "developmental disorder with or without", "disorder with or without epilepsy", "with or without epilepsy or", "or without epilepsy or cerebellar", "without epilepsy or cerebellar ataxia", "iddeca" ] }, { "record_id": "MONDO:0060745", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060745", "record_type": "disease", "section": "proteins", "phraselist": [ "p35398", "p35398 2", "rora_human", "np_002934", "glycoprotein", "rora", "iddeca", "nr1f1", "ror1", "ror2", "ror3", "rora1", "roralpha", "rzr", "alpha", "rzr alpha", "rzra" ] }, { "record_id": "MONDO:0060745", "record_type": "disease", "section": "proteins", "phraselist": [ "nuclear", "receptor", "ror", "alpha", "nuclear receptor", "receptor ror", "ror alpha", "nuclear receptor ror", "receptor ror alpha", "nuclear receptor ror alpha", "rzr", "receptor rzr", "rzr alpha", "nuclear receptor rzr", "receptor rzr alpha", "nuclear receptor rzr alpha", "subfamily", "group", "member", "receptor subfamily", "subfamily 1", "1 group", "group f", "f member", "member 1", "nuclear receptor subfamily", "receptor subfamily 1", "subfamily 1 group", "1 group f", "group f member", "f member 1", "nuclear receptor subfamily 1", "receptor subfamily 1 group", "subfamily 1 group f", "1 group f member", "group f member 1", "nuclear receptor subfamily 1 group", "receptor subfamily 1 group f", "subfamily 1 group f member", "1 group f member 1", "rar", "related", "orphan", "rar related", "related orphan", "orphan nuclear", "receptor alpha", "rar related orphan", "related orphan nuclear", "orphan nuclear receptor", "nuclear receptor alpha", "rar related orphan nuclear", "related orphan nuclear receptor", "orphan nuclear receptor alpha", "rar related orphan nuclear receptor", "related orphan nuclear receptor alpha", "orphan receptor", "receptor a", "related orphan receptor", "orphan receptor a", "rar related orphan receptor", "related orphan receptor a", "rar related orphan receptor a", "retinoid", "retinoid related", "retinoid related orphan", "orphan receptor alpha", "retinoid related orphan receptor", "related orphan receptor alpha", "retinoid related orphan receptor alpha", "isoform", "alpha isoform", "isoform c", "ror alpha isoform", "alpha isoform c", "receptor ror alpha isoform", "ror alpha isoform c", "nuclear receptor ror alpha isoform", "receptor ror alpha isoform c", "retinoic", "acid", "retinoic acid", "acid receptor", "receptor related", "retinoic acid receptor", "acid receptor related", "receptor related orphan", "retinoic acid receptor related", "acid receptor related orphan", "receptor related orphan receptor", "retinoic acid receptor related orphan", "acid receptor related orphan receptor", "receptor related orphan receptor alpha", "transcription", "factor", "transcription factor", "factor rzr", "transcription factor rzr", "factor rzr alpha", "transcription factor rzr alpha" ] }, { "record_id": "MONDO:0060758", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060758", "0060758", "mim:618087", "618087" ] }, { "record_id": "MONDO:0060758", "record_type": "disease", "section": "disease_name", "phraselist": [ "spinocerebellar", "ataxia", "42", "early", "onset", "severe", "with", "neurodevelopmental", "deficits", "spinocerebellar ataxia", "ataxia 42", "early onset", "with neurodevelopmental", "neurodevelopmental deficits", "spinocerebellar ataxia 42", "42 early", "onset severe", "severe with", "with neurodevelopmental deficits", "ataxia 42 early", "42 early onset", "early onset severe", "severe with neurodevelopmental", "spinocerebellar ataxia 42 early", "ataxia 42 early onset", "onset severe with", "severe with neurodevelopmental deficits", "sca42nd" ] }, { "record_id": "MONDO:0060758", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060758", "record_type": "disease", "section": "proteins", "phraselist": [ "o43497", "o43497 1", "cac1g_human", "np_001243253", "glycoprotein", "cacna1g", "ca", "t.1", "ca v", "v t.1", "ca v t.1", "cav3.1", "kiaa1123", "nbr13", "sca42nd", "sca42" ] }, { "record_id": "MONDO:0060758", "record_type": "disease", "section": "proteins", "phraselist": [ "voltage", "dependent", "type", "calcium", "channel", "subunit", "alpha", "1g", "voltage dependent", "dependent t", "t type", "type calcium", "calcium channel", "channel subunit", "subunit alpha", "alpha 1g", "voltage dependent t", "dependent t type", "t type calcium", "type calcium channel", "calcium channel subunit", "channel subunit alpha", "subunit alpha 1g", "voltage dependent t type", "dependent t type calcium", "t type calcium channel", "type calcium channel subunit", "calcium channel subunit alpha", "channel subunit alpha 1g", "voltage dependent t type calcium", "dependent t type calcium channel", "t type calcium channel subunit", "type calcium channel subunit alpha", "calcium channel subunit alpha 1g", "cav3.1c", "nbr13", "gated", "cav3.1", "voltage gated", "gated calcium", "alpha cav3.1", "voltage gated calcium", "gated calcium channel", "subunit alpha cav3.1", "voltage gated calcium channel", "gated calcium channel subunit", "channel subunit alpha cav3.1", "voltage gated calcium channel subunit", "gated calcium channel subunit alpha", "calcium channel subunit alpha cav3.1", "1g subunit", "channel voltage", "type alpha", "alpha 1g subunit", "calcium channel voltage", "channel voltage dependent", "t type alpha", "type alpha 1g", "calcium channel voltage dependent", "t type alpha 1g", "type alpha 1g subunit", "channel alpha", "calcium channel alpha", "channel alpha 1g", "type calcium channel alpha", "calcium channel alpha 1g", "channel alpha 1g subunit", "t type calcium channel alpha", "type calcium channel alpha 1g", "calcium channel alpha 1g subunit", "isoform", "16", "1g isoform", "isoform 16", "alpha 1g isoform", "1g isoform 16", "subunit alpha 1g isoform", "alpha 1g isoform 16", "channel subunit alpha 1g isoform", "subunit alpha 1g isoform 16", "dependent calcium", "voltage dependent calcium", "dependent calcium channel", "voltage dependent calcium channel", "dependent calcium channel alpha", "voltage dependent calcium channel alpha", "dependent calcium channel alpha 1g" ] }, { "record_id": "MONDO:0060761", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060761", "0060761", "mim:618090", "618090" ] }, { "record_id": "MONDO:0060761", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "epilepsy", "and", "hypoplasia", "of", "the", "corpus", "callosum", "neurodevelopmental disorder", "disorder with", "with epilepsy", "epilepsy and", "and hypoplasia", "hypoplasia of", "of the", "the corpus", "corpus callosum", "neurodevelopmental disorder with", "disorder with epilepsy", "with epilepsy and", "epilepsy and hypoplasia", "and hypoplasia of", "hypoplasia of the", "of the corpus", "the corpus callosum", "neurodevelopmental disorder with epilepsy", "disorder with epilepsy and", "with epilepsy and hypoplasia", "epilepsy and hypoplasia of", "and hypoplasia of the", "hypoplasia of the corpus", "of the corpus callosum", "neurodevelopmental disorder with epilepsy and", "disorder with epilepsy and hypoplasia", "with epilepsy and hypoplasia of", "epilepsy and hypoplasia of the", "and hypoplasia of the corpus", "hypoplasia of the corpus callosum", "nedehcc" ] }, { "record_id": "MONDO:0060761", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060761", "record_type": "disease", "section": "proteins", "phraselist": [ "q9c0e8", "q9c0e8 1", "lnp_human", "np_001291937", "glycoprotein", "lnpk", "kiaa1715", "lnp1", "lnp", "nedehcc", "ul", "ulnaless" ] }, { "record_id": "MONDO:0060761", "record_type": "disease", "section": "proteins", "phraselist": [ "endoplasmic", "reticulum", "junction", "formation", "protein", "lunapark", "endoplasmic reticulum", "reticulum junction", "junction formation", "formation protein", "protein lunapark", "endoplasmic reticulum junction", "reticulum junction formation", "junction formation protein", "formation protein lunapark", "endoplasmic reticulum junction formation", "reticulum junction formation protein", "junction formation protein lunapark", "endoplasmic reticulum junction formation protein", "reticulum junction formation protein lunapark", "2310011o18rik", "4921514l11rik", "er", "factor", "er junction", "formation factor", "factor lunapark", "er junction formation", "junction formation factor", "formation factor lunapark", "er junction formation factor", "junction formation factor lunapark", "er junction formation factor lunapark", "isoform", "lunapark isoform", "isoform 1", "protein lunapark isoform", "lunapark isoform 1", "formation protein lunapark isoform", "protein lunapark isoform 1", "junction formation protein lunapark isoform", "formation protein lunapark isoform 1", "limb", "and", "neural", "patterns", "limb and", "and neural", "neural patterns", "limb and neural", "and neural patterns", "limb and neural patterns" ] }, { "record_id": "MONDO:0060763", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0060763", "0060763", "mim:618092", "618092" ] }, { "record_id": "MONDO:0060763", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "speech", "delay", "dysmorphic", "facies", "and", "cell", "abnormalities", "intellectual developmental", "developmental disorder", "disorder with", "with speech", "speech delay", "dysmorphic facies", "and t", "t cell", "cell abnormalities", "intellectual developmental disorder", "developmental disorder with", "disorder with speech", "with speech delay", "delay dysmorphic", "facies and", "and t cell", "t cell abnormalities", "intellectual developmental disorder with", "developmental disorder with speech", "disorder with speech delay", "speech delay dysmorphic", "delay dysmorphic facies", "dysmorphic facies and", "facies and t", "and t cell abnormalities", "intellectual developmental disorder with speech", "developmental disorder with speech delay", "with speech delay dysmorphic", "speech delay dysmorphic facies", "dysmorphic facies and t", "facies and t cell", "bcl11b", "related", "bcl11b related", "related disorder", "bcl11b related disorder", "bafopathy", "related bafopathy", "bcl11b related bafopathy", "with dysmorphic", "disorder with dysmorphic", "with dysmorphic facies", "facies speech", "delay and", "developmental disorder with dysmorphic", "disorder with dysmorphic facies", "dysmorphic facies speech", "facies speech delay", "speech delay and", "delay and t", "intellectual developmental disorder with dysmorphic", "developmental disorder with dysmorphic facies", "with dysmorphic facies speech", "dysmorphic facies speech delay", "speech delay and t", "delay and t cell", "iddsfta" ] }, { "record_id": "MONDO:0060763", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0060763", "record_type": "disease", "section": "proteins", "phraselist": [ "q9c0k0", "q9c0k0 1", "bc11b_human", "np_001269166", "glycoprotein", "bcl11b", "atl1", "alpha", "atl1 alpha", "beta", "atl1 beta", "delta", "atl1 delta", "gamma", "atl1 gamma", "ctip", "ctip 2", "ctip2", "iddfsta", "imd49", "rit1", "smarcm2", "znf856b", "hrit1", "hrit1 alpha" ] }, { "record_id": "MONDO:0060763", "record_type": "disease", "section": "proteins", "phraselist": [ "cell", "lymphoma/leukemia", "11b", "b cell", "cell lymphoma/leukemia", "lymphoma/leukemia 11b", "b cell lymphoma/leukemia", "cell lymphoma/leukemia 11b", "b cell lymphoma/leukemia 11b", "cll/lymphoma", "cell cll/lymphoma", "cll/lymphoma 11b", "b cell cll/lymphoma", "cell cll/lymphoma 11b", "b cell cll/lymphoma 11b", "zinc", "finger", "protein", "zinc finger", "finger protein", "11b zinc", "zinc finger protein", "cll/lymphoma 11b zinc", "11b zinc finger", "cell cll/lymphoma 11b zinc", "cll/lymphoma 11b zinc finger", "11b zinc finger protein", "11b/t", "receptor", "delta", "constant", "region", "fusion", "cll/lymphoma 11b/t", "11b/t cell", "cell receptor", "receptor delta", "delta constant", "constant region", "region fusion", "fusion protein", "cell cll/lymphoma 11b/t", "cll/lymphoma 11b/t cell", "11b/t cell receptor", "cell receptor delta", "receptor delta constant", "delta constant region", "constant region fusion", "region fusion protein", "b cell cll/lymphoma 11b/t", "cell cll/lymphoma 11b/t cell", "cll/lymphoma 11b/t cell receptor", "11b/t cell receptor delta", "cell receptor delta constant", "receptor delta constant region", "delta constant region fusion", "constant region fusion protein", "b cell cll/lymphoma 11b/t cell", "cell cll/lymphoma 11b/t cell receptor", "cll/lymphoma 11b/t cell receptor delta", "11b/t cell receptor delta constant", "cell receptor delta constant region", "receptor delta constant region fusion", "delta constant region fusion protein", "lymphoma/leukaemia", "cell lymphoma/leukaemia", "lymphoma/leukaemia 11b", "b cell lymphoma/leukaemia", "cell lymphoma/leukaemia 11b", "b cell lymphoma/leukaemia 11b", "isoform", "11b isoform", "isoform 3", "lymphoma/leukemia 11b isoform", "11b isoform 3", "cell lymphoma/leukemia 11b isoform", "lymphoma/leukemia 11b isoform 3", "b cell lymphoma/leukemia 11b isoform", "cell lymphoma/leukemia 11b isoform 3", "baf", "chromatin", "remodeling", "complex", "subunit", "bcl11b", "baf chromatin", "chromatin remodeling", "remodeling complex", "complex subunit", "subunit bcl11b", "baf chromatin remodeling", "chromatin remodeling complex", "remodeling complex subunit", "complex subunit bcl11b", "baf chromatin remodeling complex", "chromatin remodeling complex subunit", "remodeling complex subunit bcl11b", "baf chromatin remodeling complex subunit", "chromatin remodeling complex subunit bcl11b", "bcl", "bcl 11b", "component", "baf complex", "complex component", "bcl11b baf", "baf complex component", "bcl11b baf complex", "bcl11b baf complex component", "bcl11b/trdc", "bcl11b/trdc fusion", "coup", "tf", "interacting", "coup tf", "tf interacting", "interacting protein", "protein 2", "coup tf interacting", "tf interacting protein", "interacting protein 2", "coup tf interacting protein", "tf interacting protein 2", "coup tf interacting protein 2", "radiation", "induced", "tumor", "suppressor", "gene", "radiation induced", "induced tumor", "tumor suppressor", "suppressor gene", "gene 1", "1 protein", "radiation induced tumor", "induced tumor suppressor", "tumor suppressor gene", "suppressor gene 1", "gene 1 protein", "radiation induced tumor suppressor", "induced tumor suppressor gene", "tumor suppressor gene 1", "suppressor gene 1 protein", "radiation induced tumor suppressor gene", "induced tumor suppressor gene 1", "tumor suppressor gene 1 protein", "hrit1", "alpha", "protein hrit1", "hrit1 alpha", "finger protein hrit1", "protein hrit1 alpha", "zinc finger protein hrit1", "finger protein hrit1 alpha", "zinc finger protein hrit1 alpha" ] }, { "record_id": "MONDO:0100003", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100003", "0100003", "mim:300909", "300909" ] }, { "record_id": "MONDO:0100003", "record_type": "disease", "section": "disease_name", "phraselist": [ "susceptibility", "to", "angioedema", "induced", "by", "ace", "inhibitors", "susceptibility to", "to angioedema", "angioedema induced", "induced by", "by ace", "ace inhibitors", "susceptibility to angioedema", "to angioedema induced", "angioedema induced by", "induced by ace", "by ace inhibitors", "susceptibility to angioedema induced", "to angioedema induced by", "angioedema induced by ace", "induced by ace inhibitors", "susceptibility to angioedema induced by", "to angioedema induced by ace", "angioedema induced by ace inhibitors", "inhibitors susceptibility", "ace inhibitors susceptibility", "inhibitors susceptibility to", "by ace inhibitors susceptibility", "ace inhibitors susceptibility to" ] }, { "record_id": "MONDO:0100003", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100003", "record_type": "disease", "section": "proteins", "phraselist": [ "o43895", "o43895 1", "xpp2_human", "np_003390", "glycoprotein", "xpnpep2", "aeacei", "app2" ] }, { "record_id": "MONDO:0100003", "record_type": "disease", "section": "proteins", "phraselist": [ "xaa", "pro", "aminopeptidase", "xaa pro", "pro aminopeptidase", "aminopeptidase 2", "xaa pro aminopeptidase", "pro aminopeptidase 2", "xaa pro aminopeptidase 2", "3.4.11.9", "aminoacylproline", "aminoacylproline aminopeptidase", "membrane", "bound", "app", "membrane bound", "bound app", "membrane bound app", "amp", "bound amp", "membrane bound amp", "bound aminopeptidase", "aminopeptidase p", "membrane bound aminopeptidase", "bound aminopeptidase p", "membrane bound aminopeptidase p", "x pro", "x pro aminopeptidase", "x pro aminopeptidase 2", "prolyl", "x prolyl", "prolyl aminopeptidase", "x prolyl aminopeptidase", "aminopeptidase aminopeptidase", "p 2", "2 membrane", "prolyl aminopeptidase aminopeptidase", "aminopeptidase aminopeptidase p", "aminopeptidase p 2", "2 membrane bound", "x prolyl aminopeptidase aminopeptidase", "prolyl aminopeptidase aminopeptidase p", "p 2 membrane", "mamp", "precursor", "2 precursor", "aminopeptidase 2 precursor", "pro aminopeptidase 2 precursor", "xaa pro aminopeptidase 2 precursor" ] }, { "record_id": "MONDO:0100083", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100083", "0100083", "mim:601399", "601399" ] }, { "record_id": "MONDO:0100083", "record_type": "disease", "section": "disease_name", "phraselist": [ "hereditary", "thrombocytopenia", "and", "hematological", "cancer", "predisposition", "syndrome", "associated", "with", "runx1", "hereditary thrombocytopenia", "thrombocytopenia and", "and hematological", "hematological cancer", "cancer predisposition", "predisposition syndrome", "syndrome associated", "associated with", "with runx1", "hereditary thrombocytopenia and", "thrombocytopenia and hematological", "and hematological cancer", "hematological cancer predisposition", "cancer predisposition syndrome", "predisposition syndrome associated", "syndrome associated with", "associated with runx1", "hereditary thrombocytopenia and hematological", "thrombocytopenia and hematological cancer", "and hematological cancer predisposition", "hematological cancer predisposition syndrome", "cancer predisposition syndrome associated", "predisposition syndrome associated with", "syndrome associated with runx1", "hereditary thrombocytopenia and hematological cancer", "thrombocytopenia and hematological cancer predisposition", "and hematological cancer predisposition syndrome", "hematological cancer predisposition syndrome associated", "cancer predisposition syndrome associated with", "predisposition syndrome associated with runx1", "fpd/aml", "fpd/aml syndrome", "fps/aml", "fps/aml syndrome", "familial", "platelet", "disorder", "myeloid", "malignancy", "familial platelet", "platelet disorder", "disorder with", "with associated", "associated myeloid", "myeloid malignancy", "familial platelet disorder", "platelet disorder with", "disorder with associated", "with associated myeloid", "associated myeloid malignancy", "familial platelet disorder with", "platelet disorder with associated", "disorder with associated myeloid", "with associated myeloid malignancy", "familial platelet disorder with associated", "platelet disorder with associated myeloid", "disorder with associated myeloid malignancy", "to", "acute", "myelogenous", "leukaemia", "platelet syndrome", "syndrome with", "with predisposition", "predisposition to", "to acute", "acute myelogenous", "myelogenous leukaemia", "familial platelet syndrome", "platelet syndrome with", "syndrome with predisposition", "with predisposition to", "predisposition to acute", "to acute myelogenous", "acute myelogenous leukaemia", "familial platelet syndrome with", "platelet syndrome with predisposition", "syndrome with predisposition to", "with predisposition to acute", "predisposition to acute myelogenous", "to acute myelogenous leukaemia", "familial platelet syndrome with predisposition", "platelet syndrome with predisposition to", "syndrome with predisposition to acute", "with predisposition to acute myelogenous", "predisposition to acute myelogenous leukaemia", "leukemia", "myelogenous leukemia", "acute myelogenous leukemia", "to acute myelogenous leukemia", "predisposition to acute myelogenous leukemia", "fpdmm", "asprin", "like", "asprin like", "like platelet", "asprin like platelet", "like platelet disorder", "asprin like platelet disorder", "propensity", "familial thrombocytopenia", "thrombocytopenia with", "with propensity", "propensity to", "familial thrombocytopenia with", "thrombocytopenia with propensity", "with propensity to", "propensity to acute", "familial thrombocytopenia with propensity", "thrombocytopenia with propensity to", "with propensity to acute", "propensity to acute myelogenous", "familial thrombocytopenia with propensity to", "thrombocytopenia with propensity to acute", "with propensity to acute myelogenous", "propensity to acute myelogenous leukaemia", "propensity to acute myelogenous leukemia", "aspirin", "aspirin like", "disorder aspirin", "platelet disorder aspirin", "disorder aspirin like", "platelet disorder aspirin like", "disorder familial", "familial with", "platelet disorder familial", "familial with associated", "disorder familial with", "familial with associated myeloid", "thrombocytopenia familial", "familial with propensity", "thrombocytopenia familial with", "familial with propensity to" ] }, { "record_id": "MONDO:0100083", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100083", "record_type": "disease", "section": "proteins", "phraselist": [ "q01196", "q01196 1", "runx1_human", "np_001001890", "glycoprotein", "runx1", "aml1", "evi", "aml1 evi", "evi 1", "aml1 evi 1", "amlcr1", "cbf2alpha", "cbfa2", "pebp2ab", "pebp2alpha" ] }, { "record_id": "MONDO:0100083", "record_type": "disease", "section": "proteins", "phraselist": [ "runt", "related", "transcription", "factor", "runt related", "related transcription", "transcription factor", "factor 1", "runt related transcription", "related transcription factor", "transcription factor 1", "runt related transcription factor", "related transcription factor 1", "runt related transcription factor 1", "aml1", "eto", "fusion", "protein", "aml1 eto", "eto fusion", "fusion protein", "aml1 eto fusion", "eto fusion protein", "aml1 eto fusion protein", "evi", "aml1 evi", "evi 1", "1 fusion", "aml1 evi 1", "evi 1 fusion", "1 fusion protein", "aml1 evi 1 fusion", "evi 1 fusion protein", "aml1 evi 1 fusion protein", "acute", "myeloid", "leukemia", "acute myeloid", "myeloid leukemia", "leukemia 1", "1 protein", "acute myeloid leukemia", "myeloid leukemia 1", "leukemia 1 protein", "acute myeloid leukemia 1", "myeloid leukemia 1 protein", "acute myeloid leukemia 1 protein", "cbf", "alpha", "cbf alpha", "alpha 2", "cbf alpha 2", "core", "binding", "subunit", "core binding", "binding factor", "factor subunit", "subunit alpha", "core binding factor", "binding factor subunit", "factor subunit alpha", "subunit alpha 2", "core binding factor subunit", "binding factor subunit alpha", "factor subunit alpha 2", "core binding factor subunit alpha", "binding factor subunit alpha 2", "oncogene", "aml", "oncogene aml", "aml 1", "oncogene aml 1", "pea2", "pea2 alpha", "alpha b", "pea2 alpha b", "pebp2", "pebp2 alpha", "pebp2 alpha b", "polyomavirus", "enhancer", "polyomavirus enhancer", "enhancer binding", "binding protein", "protein 2", "2 alpha", "b subunit", "polyomavirus enhancer binding", "enhancer binding protein", "binding protein 2", "protein 2 alpha", "2 alpha b", "alpha b subunit", "polyomavirus enhancer binding protein", "enhancer binding protein 2", "binding protein 2 alpha", "protein 2 alpha b", "2 alpha b subunit", "polyomavirus enhancer binding protein 2", "enhancer binding protein 2 alpha", "binding protein 2 alpha b", "protein 2 alpha b subunit", "sl3", "sl3 3", "3 enhancer", "enhancer factor", "1 alpha", "sl3 3 enhancer", "3 enhancer factor", "enhancer factor 1", "factor 1 alpha", "1 alpha b", "sl3 3 enhancer factor", "3 enhancer factor 1", "enhancer factor 1 alpha", "factor 1 alpha b", "1 alpha b subunit", "sl3 3 enhancer factor 1", "3 enhancer factor 1 alpha", "enhancer factor 1 alpha b", "factor 1 alpha b subunit", "sl3/akv", "sl3/akv core", "factor alpha", "sl3/akv core binding", "binding factor alpha", "factor alpha b", "sl3/akv core binding factor", "core binding factor alpha", "binding factor alpha b", "factor alpha b subunit", "sl3/akv core binding factor alpha", "core binding factor alpha b", "binding factor alpha b subunit", "domain", "runt domain", "alpha subunit", "subunit 2", "factor runt", "domain alpha", "alpha subunit 2", "binding factor runt", "factor runt domain", "runt domain alpha", "domain alpha subunit", "core binding factor runt", "binding factor runt domain", "runt domain alpha subunit", "domain alpha subunit 2", "mutant", "runx1", "mutant runx1", "isoform", "aml1b", "1 isoform", "isoform aml1b", "factor 1 isoform", "1 isoform aml1b", "transcription factor 1 isoform", "factor 1 isoform aml1b", "related transcription factor 1 isoform", "transcription factor 1 isoform aml1b" ] }, { "record_id": "MONDO:0100092", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100092", "0100092", "mim:618364", "618364" ] }, { "record_id": "MONDO:0100092", "record_type": "disease", "section": "disease_name", "phraselist": [ "myoclonus", "familial", "myoclonus familial", "familial 2", "myoclonus familial 2", "myocl2" ] }, { "record_id": "MONDO:0100092", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100092", "record_type": "disease", "section": "proteins", "phraselist": [ "q9uqd0", "q9uqd0 1", "scn8a_human", "np_001171455", "glycoprotein", "scn8a", "bfis5", "ceriii", "ciat", "dee13", "eiee13", "med", "myocl2", "nach6", "nav1.6", "pn4" ] }, { "record_id": "MONDO:0100092", "record_type": "disease", "section": "proteins", "phraselist": [ "sodium", "channel", "protein", "type", "subunit", "alpha", "sodium channel", "channel protein", "protein type", "type 8", "8 subunit", "subunit alpha", "sodium channel protein", "channel protein type", "protein type 8", "type 8 subunit", "8 subunit alpha", "sodium channel protein type", "channel protein type 8", "protein type 8 subunit", "type 8 subunit alpha", "sodium channel protein type 8", "channel protein type 8 subunit", "protein type 8 subunit alpha", "viii", "type viii", "viii subunit", "protein type viii", "type viii subunit", "viii subunit alpha", "channel protein type viii", "protein type viii subunit", "type viii subunit alpha", "sodium channel protein type viii", "channel protein type viii subunit", "protein type viii subunit alpha", "voltage", "gated", "nav1.6", "voltage gated", "gated sodium", "channel subunit", "alpha nav1.6", "voltage gated sodium", "gated sodium channel", "sodium channel subunit", "channel subunit alpha", "subunit alpha nav1.6", "voltage gated sodium channel", "gated sodium channel subunit", "sodium channel subunit alpha", "channel subunit alpha nav1.6", "voltage gated sodium channel subunit", "gated sodium channel subunit alpha", "sodium channel subunit alpha nav1.6", "hna6/scn8a", "hna6/scn8a voltage", "hna6/scn8a voltage gated", "hna6/scn8a voltage gated sodium", "hna6/scn8a voltage gated sodium channel", "isoform", "alpha isoform", "isoform 2", "subunit alpha isoform", "alpha isoform 2", "8 subunit alpha isoform", "subunit alpha isoform 2", "type 8 subunit alpha isoform", "8 subunit alpha isoform 2", "alpha subunit", "channel voltage", "gated type", "viii alpha", "sodium channel voltage", "channel voltage gated", "voltage gated type", "gated type viii", "type viii alpha", "viii alpha subunit", "sodium channel voltage gated", "voltage gated type viii", "type viii alpha subunit", "channel type", "alpha protein", "sodium channel type", "channel type viii", "viii alpha protein", "gated sodium channel type", "sodium channel type viii", "channel type viii alpha", "type viii alpha protein", "voltage gated sodium channel type", "gated sodium channel type viii", "sodium channel type viii alpha", "channel type viii alpha protein" ] }, { "record_id": "MONDO:0100093", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100093", "0100093", "mim:614937", "614937" ] }, { "record_id": "MONDO:0100093", "record_type": "disease", "section": "disease_name", "phraselist": [ "myoclonus", "familial", "myoclonus familial", "familial 1", "myoclonus familial 1", "cortical", "familial cortical", "myoclonus familial cortical", "fcm", "myocl1" ] }, { "record_id": "MONDO:0100093", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100093", "record_type": "disease", "section": "proteins", "phraselist": [ "o60936", "o60936 2", "nol3_human", "np_001171986", "nol3", "arc", "fcm", "myocl1", "myp", "nop30", "nop" ] }, { "record_id": "MONDO:0100093", "record_type": "disease", "section": "proteins", "phraselist": [ "nucleolar", "protein", "nucleolar protein", "protein 3", "nucleolar protein 3", "apoptosis", "repressor", "with", "card", "apoptosis repressor", "repressor with", "with card", "apoptosis repressor with", "repressor with card", "apoptosis repressor with card", "muscle", "enriched", "cytoplasmic", "muscle enriched", "enriched cytoplasmic", "cytoplasmic protein", "muscle enriched cytoplasmic", "enriched cytoplasmic protein", "muscle enriched cytoplasmic protein", "myp", "nop30", "of", "30", "kda", "protein of", "of 30", "30 kda", "nucleolar protein of", "protein of 30", "of 30 kda", "nucleolar protein of 30", "protein of 30 kda", "nucleolar protein of 30 kda", "domain", "card domain", "3 apoptosis", "with card domain", "protein 3 apoptosis", "3 apoptosis repressor", "repressor with card domain", "nucleolar protein 3 apoptosis", "protein 3 apoptosis repressor", "3 apoptosis repressor with", "apoptosis repressor with card domain", "isoform", "3 isoform", "isoform nop30", "protein 3 isoform", "3 isoform nop30", "nucleolar protein 3 isoform", "protein 3 isoform nop30", "nucleolar protein 3 isoform nop30" ] }, { "record_id": "MONDO:0100111", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100111", "0100111", "mim:619428", "619428" ] }, { "record_id": "MONDO:0100111", "record_type": "disease", "section": "disease_name", "phraselist": [ "focal", "segmental", "glomerulosclerosis", "and", "neurodevelopmental", "syndrome", "focal segmental", "segmental glomerulosclerosis", "glomerulosclerosis and", "and neurodevelopmental", "neurodevelopmental syndrome", "focal segmental glomerulosclerosis", "segmental glomerulosclerosis and", "glomerulosclerosis and neurodevelopmental", "and neurodevelopmental syndrome", "focal segmental glomerulosclerosis and", "segmental glomerulosclerosis and neurodevelopmental", "glomerulosclerosis and neurodevelopmental syndrome", "focal segmental glomerulosclerosis and neurodevelopmental", "segmental glomerulosclerosis and neurodevelopmental syndrome", "fsgsneds" ] }, { "record_id": "MONDO:0100111", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100111", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bzr9", "q9bzr9 1", "trim8_human", "np_112174", "glycoprotein", "trim8", "fsgsneds", "gerp", "rnf27" ] }, { "record_id": "MONDO:0100111", "record_type": "disease", "section": "proteins", "phraselist": [ "e3", "ubiquitin", "protein", "ligase", "trim8", "e3 ubiquitin", "ubiquitin protein", "protein ligase", "ligase trim8", "e3 ubiquitin protein", "ubiquitin protein ligase", "protein ligase trim8", "e3 ubiquitin protein ligase", "ubiquitin protein ligase trim8", "e3 ubiquitin protein ligase trim8", "2.3.2.27", "isoform", "trim8 isoform", "isoform 1", "ligase trim8 isoform", "trim8 isoform 1", "protein ligase trim8 isoform", "ligase trim8 isoform 1", "ubiquitin protein ligase trim8 isoform", "protein ligase trim8 isoform 1", "glioblastoma", "expressed", "ring", "finger", "glioblastoma expressed", "expressed ring", "ring finger", "finger protein", "glioblastoma expressed ring", "expressed ring finger", "ring finger protein", "glioblastoma expressed ring finger", "expressed ring finger protein", "glioblastoma expressed ring finger protein", "27", "protein 27", "finger protein 27", "ring finger protein 27", "type", "transferase", "ring type", "type e3", "ubiquitin transferase", "transferase trim8", "ring type e3", "type e3 ubiquitin", "e3 ubiquitin transferase", "ubiquitin transferase trim8", "ring type e3 ubiquitin", "type e3 ubiquitin transferase", "e3 ubiquitin transferase trim8", "ring type e3 ubiquitin transferase", "type e3 ubiquitin transferase trim8", "tripartite", "motif", "containing", "tripartite motif", "motif containing", "containing protein", "protein 8", "tripartite motif containing", "motif containing protein", "containing protein 8", "tripartite motif containing protein", "motif containing protein 8", "tripartite motif containing protein 8", "probable", "probable e3", "probable e3 ubiquitin", "probable e3 ubiquitin protein", "probable e3 ubiquitin protein ligase", "motif protein", "protein trim8", "tripartite motif protein", "motif protein trim8", "tripartite motif protein trim8" ] }, { "record_id": "MONDO:0100119", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100119", "0100119", "mim:618458", "618458" ] }, { "record_id": "MONDO:0100119", "record_type": "disease", "section": "disease_name", "phraselist": [ "knobloch", "syndrome", "knobloch syndrome", "syndrome 2", "knobloch syndrome 2" ] }, { "record_id": "MONDO:0100119", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100119", "record_type": "disease", "section": "proteins", "phraselist": [ "q13177", "q13177 1", "pak2_human", "np_002568", "glycoprotein", "pak2", "kno2", "pak65", "pakgamma" ] }, { "record_id": "MONDO:0100119", "record_type": "disease", "section": "proteins", "phraselist": [ "serine/threonine", "protein", "kinase", "pak", "serine/threonine protein", "protein kinase", "kinase pak", "pak 2", "serine/threonine protein kinase", "protein kinase pak", "kinase pak 2", "serine/threonine protein kinase pak", "protein kinase pak 2", "serine/threonine protein kinase pak 2", "2.7.11.1", "pak2", "c t", "t pak2", "c t pak2", "gamma", "gamma pak", "pak65", "s6/h4", "s6/h4 kinase", "p21", "cdkn1a", "activated", "activated kinase", "kinase 2", "p21 cdkn1a", "cdkn1a activated", "activated kinase 2", "cdkn1a activated kinase", "p21 cdkn1a activated", "cdkn1a activated kinase 2", "cdc42/rac", "p21 protein", "protein cdc42/rac", "cdc42/rac activated", "p21 protein cdc42/rac", "cdc42/rac activated kinase", "protein cdc42/rac activated", "cdc42/rac activated kinase 2", "p21 activated", "p21 activated kinase", "p21 activated kinase 2", "p58" ] }, { "record_id": "MONDO:0100157", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100157", "0100157", "mim:618882", "618882" ] }, { "record_id": "MONDO:0100157", "record_type": "disease", "section": "disease_name", "phraselist": [ "imerslund", "grasbeck", "syndrome", "type", "imerslund grasbeck", "grasbeck syndrome", "syndrome type", "type 2", "imerslund grasbeck syndrome", "grasbeck syndrome type", "syndrome type 2", "imerslund grasbeck syndrome type", "grasbeck syndrome type 2", "imerslund grasbeck syndrome type 2", "syndrome 2", "grasbeck syndrome 2", "imerslund grasbeck syndrome 2", "megaloblastic", "anemia", "norwegian", "megaloblastic anemia", "norwegian type", "anemia norwegian", "megaloblastic anemia norwegian", "anemia norwegian type", "megaloblastic anemia norwegian type" ] }, { "record_id": "MONDO:0100157", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100157", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bxj7", "q9bxj7 1", "amnls_human", "np_112205", "glycoprotein", "amn", "igs2", "pro1028", "amnionless" ] }, { "record_id": "MONDO:0100157", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "amnionless", "protein amnionless", "homolog", "amnionless homolog", "isoform", "precursor", "amnionless isoform", "isoform 1", "1 precursor", "protein amnionless isoform", "amnionless isoform 1", "isoform 1 precursor", "protein amnionless isoform 1", "amnionless isoform 1 precursor", "protein amnionless isoform 1 precursor", "visceral", "endoderm", "specific", "type", "transmembrane", "visceral endoderm", "endoderm specific", "specific type", "type 1", "1 transmembrane", "transmembrane protein", "visceral endoderm specific", "endoderm specific type", "specific type 1", "type 1 transmembrane", "1 transmembrane protein", "visceral endoderm specific type", "endoderm specific type 1", "specific type 1 transmembrane", "type 1 transmembrane protein", "visceral endoderm specific type 1", "endoderm specific type 1 transmembrane", "specific type 1 transmembrane protein" ] }, { "record_id": "MONDO:0100215", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100215", "0100215", "mim:613658", "613658" ] }, { "record_id": "MONDO:0100215", "record_type": "disease", "section": "disease_name", "phraselist": [ "rajab", "interstitial", "lung", "disease", "with", "brain", "calcifications", "rajab interstitial", "interstitial lung", "lung disease", "disease with", "with brain", "brain calcifications", "calcifications 1", "rajab interstitial lung", "interstitial lung disease", "lung disease with", "disease with brain", "with brain calcifications", "brain calcifications 1", "rajab interstitial lung disease", "interstitial lung disease with", "lung disease with brain", "disease with brain calcifications", "with brain calcifications 1", "rajab interstitial lung disease with", "interstitial lung disease with brain", "lung disease with brain calcifications", "disease with brain calcifications 1", "calcification", "type", "brain calcification", "rajab type", "calcification rajab", "brain calcification rajab", "calcification rajab type", "brain calcification rajab type", "neurodevelopmental", "disorder", "liver", "and", "abnormalities", "neurodevelopmental disorder", "disorder with", "and lung", "lung abnormalities", "neurodevelopmental disorder with", "disorder with brain", "brain liver", "liver and", "and lung abnormalities", "neurodevelopmental disorder with brain", "with brain liver", "liver and lung", "disorder with brain liver", "brain liver and", "liver and lung abnormalities", "nedblla", "developmental", "delay", "small", "stature", "microcephaly", "developmental delay", "small stature", "and brain", "delay small", "stature microcephaly", "microcephaly and", "and brain calcifications", "developmental delay small", "delay small stature", "small stature microcephaly", "microcephaly and brain", "developmental delay small stature", "stature microcephaly and", "microcephaly and brain calcifications" ] }, { "record_id": "MONDO:0100215", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100215", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nsd9", "q9nsd9 1", "syfb_human", "np_005678", "glycoprotein", "farsb", "farslb", "frsb", "hspc173", "nedblla", "phehb", "phers", "rildbc1", "rildbc", "rjbs" ] }, { "record_id": "MONDO:0100215", "record_type": "disease", "section": "proteins", "phraselist": [ "phenylalanine", "trna", "ligase", "beta", "subunit", "trna ligase", "ligase beta", "beta subunit", "phenylalanine trna", "trna ligase beta", "ligase beta subunit", "phenylalanine trna ligase", "trna ligase beta subunit", "phenylalanine trna ligase beta", "6.1.1.20", "phers", "phenylalanyl", "synthetase", "phenylalanyl trna", "trna synthetase", "synthetase beta", "phenylalanyl trna synthetase", "trna synthetase beta", "synthetase beta subunit", "phenylalanyl trna synthetase beta", "trna synthetase beta subunit", "phenylalanyl trna synthetase beta subunit", "cytoplasmic", "ligase 1", "trna ligase 1", "1 beta", "beta cytoplasmic", "phenylalanine trna ligase 1", "ligase 1 beta", "trna ligase 1 beta", "1 beta cytoplasmic", "chain", "beta chain", "ligase beta chain", "trna ligase beta chain", "phenylalanine trna ligase beta chain", "like", "synthetase like", "phenylalanine trna synthetase", "trna synthetase like", "like beta", "phenylalanine trna synthetase like", "synthetase like beta", "like beta subunit", "trna synthetase like beta", "synthetase like beta subunit", "synthetase beta chain", "trna synthetase beta chain", "phenylalanyl trna synthetase beta chain", "phenylalanyl trna synthetase like" ] }, { "record_id": "MONDO:0100220", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100220", "0100220", "mim:619013", "619013" ] }, { "record_id": "MONDO:0100220", "record_type": "disease", "section": "disease_name", "phraselist": [ "rajab", "interstitial", "lung", "disease", "with", "brain", "calcifications", "rajab interstitial", "interstitial lung", "lung disease", "disease with", "with brain", "brain calcifications", "calcifications 2", "rajab interstitial lung", "interstitial lung disease", "lung disease with", "disease with brain", "with brain calcifications", "brain calcifications 2", "rajab interstitial lung disease", "interstitial lung disease with", "lung disease with brain", "disease with brain calcifications", "with brain calcifications 2", "rajab interstitial lung disease with", "interstitial lung disease with brain", "lung disease with brain calcifications", "disease with brain calcifications 2", "rildbc2" ] }, { "record_id": "MONDO:0100220", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100220", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y285", "q9y285 1", "syfa_human", "np_004452", "glycoprotein", "farsa", "cml33", "farsla", "farsl", "fars", "frsa", "pheha", "rildbc2" ] }, { "record_id": "MONDO:0100220", "record_type": "disease", "section": "proteins", "phraselist": [ "phenylalanine", "trna", "ligase", "alpha", "subunit", "trna ligase", "ligase alpha", "alpha subunit", "phenylalanine trna", "trna ligase alpha", "ligase alpha subunit", "phenylalanine trna ligase", "trna ligase alpha subunit", "phenylalanine trna ligase alpha", "6.1.1.20", "cml33", "phers", "phenylalanyl", "synthetase", "phenylalanyl trna", "trna synthetase", "synthetase alpha", "phenylalanyl trna synthetase", "trna synthetase alpha", "synthetase alpha subunit", "phenylalanyl trna synthetase alpha", "trna synthetase alpha subunit", "phenylalanyl trna synthetase alpha subunit", "cytoplasmic", "ligase 1", "trna ligase 1", "1 alpha", "alpha cytoplasmic", "phenylalanine trna ligase 1", "ligase 1 alpha", "trna ligase 1 alpha", "1 alpha cytoplasmic", "chain", "alpha chain", "ligase alpha chain", "trna ligase alpha chain", "phenylalanine trna synthetase", "phenylalanine trna synthetase alpha", "phenylalanine trna synthetase alpha subunit", "like", "synthetase like", "trna synthetase like", "like alpha", "phenylalanine trna synthetase like", "synthetase like alpha", "like alpha subunit", "trna synthetase like alpha", "synthetase like alpha subunit", "synthetase alpha chain", "trna synthetase alpha chain", "phenylalanyl trna synthetase alpha chain", "phenylalanyl trna synthetase like" ] }, { "record_id": "MONDO:0100221", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100221", "0100221", "mim:619016", "619016" ] }, { "record_id": "MONDO:0100221", "record_type": "disease", "section": "disease_name", "phraselist": [ "ifap", "syndrome", "ifap syndrome", "syndrome 2", "ifap syndrome 2", "ifap2", "ichthyosis", "follicular", "with", "atrichia", "and", "photophobia", "with atrichia", "atrichia and", "and photophobia", "photophobia syndrome", "follicular with", "with atrichia and", "atrichia and photophobia", "and photophobia syndrome", "photophobia syndrome 2", "ichthyosis follicular", "follicular with atrichia", "with atrichia and photophobia", "atrichia and photophobia syndrome", "and photophobia syndrome 2", "follicular with atrichia and", "with atrichia and photophobia syndrome", "atrichia and photophobia syndrome 2", "follicularis", "ichthyosis follicularis", "follicularis atrichia", "ichthyosis follicularis atrichia", "follicularis atrichia and" ] }, { "record_id": "MONDO:0100221", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100221", "record_type": "disease", "section": "proteins", "phraselist": [ "p36956", "p36956 1", "srbp1_human", "np_001005291", "glycoprotein", "srebf1", "bhlhd1", "hmd", "ifap2", "srebp1" ] }, { "record_id": "MONDO:0100221", "record_type": "disease", "section": "proteins", "phraselist": [ "sterol", "regulatory", "element", "binding", "protein", "sterol regulatory", "regulatory element", "element binding", "binding protein", "protein 1", "sterol regulatory element", "regulatory element binding", "element binding protein", "binding protein 1", "sterol regulatory element binding", "regulatory element binding protein", "element binding protein 1", "sterol regulatory element binding protein", "regulatory element binding protein 1", "class", "basic", "helix", "loop", "class d", "d basic", "basic helix", "helix loop", "loop helix", "helix protein", "class d basic", "d basic helix", "basic helix loop", "helix loop helix", "loop helix protein", "helix protein 1", "class d basic helix", "d basic helix loop", "basic helix loop helix", "helix loop helix protein", "loop helix protein 1", "class d basic helix loop", "d basic helix loop helix", "basic helix loop helix protein", "helix loop helix protein 1", "srebp", "srebp 1", "transcription", "factor", "binding transcription", "transcription factor", "factor 1", "element binding transcription", "binding transcription factor", "transcription factor 1", "regulatory element binding transcription", "element binding transcription factor", "binding transcription factor 1", "sterol regulatory element binding transcription", "regulatory element binding transcription factor", "element binding transcription factor 1", "srebf1", "factor srebf1", "transcription factor srebf1", "bhlhd1", "isoform", "1 isoform", "isoform 1", "protein 1 isoform", "1 isoform 1", "binding protein 1 isoform", "protein 1 isoform 1", "element binding protein 1 isoform", "binding protein 1 isoform 1" ] }, { "record_id": "MONDO:0100232", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100232", "0100232", "mim:607507", "607507" ] }, { "record_id": "MONDO:0100232", "record_type": "disease", "section": "disease_name", "phraselist": [ "psoriatic", "arthritis", "susceptibility", "to", "psoriatic arthritis", "susceptibility to", "arthritis susceptibility", "psoriatic arthritis susceptibility", "arthritis susceptibility to", "psoriatic arthritis susceptibility to" ] }, { "record_id": "MONDO:0100232", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100232", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100232", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100232", "record_type": "disease", "section": "proteins", "phraselist": [ "p01375", "p01375 1", "tnfa_human", "np_000585", "glycoprotein", "tnf", "dif", "imd127", "alpha", "tnf alpha", "tnfa", "tnfsf2", "tnlg1f", "q29983", "q29983 1", "mica_human", "np_000238", "mica", "mic", "mic a", "perb11.1", "p01374", "p01374 1", "tnfb_human", "np_000586", "lta", "lt", "tnfb", "tnfsf1", "tnlg1e" ] }, { "record_id": "MONDO:0100232", "record_type": "disease", "section": "proteins", "phraselist": [ "tumor", "necrosis", "factor", "tumor necrosis", "necrosis factor", "tumor necrosis factor", "apc1", "protein", "apc1 protein", "cachectin", "terminal", "fragment", "n terminal", "terminal fragment", "n terminal fragment", "ntf", "tnf", "macrophage", "derived", "macrophage derived", "tnf macrophage", "tnf macrophage derived", "monocyte", "monocyte derived", "tnf monocyte", "tnf monocyte derived", "alpha", "tnf alpha", "tnf a", "ligand", "superfamily", "member", "factor ligand", "ligand superfamily", "superfamily member", "member 2", "necrosis factor ligand", "factor ligand superfamily", "ligand superfamily member", "superfamily member 2", "tumor necrosis factor ligand", "necrosis factor ligand superfamily", "factor ligand superfamily member", "ligand superfamily member 2", "tumor necrosis factor ligand superfamily", "necrosis factor ligand superfamily member", "factor ligand superfamily member 2", "1f", "ligand 1f", "factor ligand 1f", "necrosis factor ligand 1f", "tumor necrosis factor ligand 1f", "factor alpha", "necrosis factor alpha", "tumor necrosis factor alpha", "necrotic", "tumor necrotic", "necrotic factor", "tumor necrotic factor", "necrotic factor alpha", "tumor necrotic factor alpha", "mhc", "class", "polypeptide", "related", "sequence", "mhc class", "class i", "i polypeptide", "polypeptide related", "related sequence", "sequence a", "mhc class i", "class i polypeptide", "i polypeptide related", "polypeptide related sequence", "related sequence a", "mhc class i polypeptide", "class i polypeptide related", "i polypeptide related sequence", "polypeptide related sequence a", "mhc class i polypeptide related", "class i polypeptide related sequence", "i polypeptide related sequence a", "hla", "antigen", "hla class", "i antigen", "hla class i", "class i antigen", "hla class i antigen", "chain", "i chain", "chain related", "related protein", "protein a", "class i chain", "i chain related", "chain related protein", "related protein a", "mhc class i chain", "class i chain related", "i chain related protein", "chain related protein a", "mhc class i chain related", "class i chain related protein", "i chain related protein a", "isoform", "mica*001", "precursor", "a isoform", "isoform 1", "sequence a isoform", "a isoform 1", "1 mica*001", "mica*001 precursor", "related sequence a isoform", "sequence a isoform 1", "isoform 1 mica*001", "polypeptide related sequence a isoform", "related sequence a isoform 1", "a isoform 1 mica*001", "1 mica*001 precursor", "i related", "related chain", "chain a", "class i related", "i related chain", "related chain a", "mhc class i related", "class i related chain", "i related chain a", "mhc class i related chain", "class i related chain a", "i related sequence", "class i related sequence", "i related sequence a", "mhc class i related sequence", "class i related sequence a", "mic", "mic a", "major", "histocompatibility", "complex", "major histocompatibility", "histocompatibility complex", "complex class", "major histocompatibility complex", "histocompatibility complex class", "complex class i", "major histocompatibility complex class", "histocompatibility complex class i", "complex class i chain", "major histocompatibility complex class i", "histocompatibility complex class i chain", "complex class i chain related", "stress", "inducible", "homolog", "stress inducible", "inducible class", "i homolog", "stress inducible class", "inducible class i", "class i homolog", "stress inducible class i", "inducible class i homolog", "stress inducible class i homolog", "lymphotoxin", "lymphotoxin alpha", "lt", "lt alpha", "tnf superfamily", "member 1", "tnf superfamily member", "superfamily member 1", "tnf superfamily member 1", "beta", "tnf beta", "ligand superfamily member 1", "factor ligand superfamily member 1", "alpha precursor", "lymphotoxin alpha precursor", "factor beta", "necrosis factor beta", "tumor necrosis factor beta", "1e", "ligand 1e", "factor ligand 1e", "necrosis factor ligand 1e", "tumor necrosis factor ligand 1e" ] }, { "record_id": "MONDO:0100295", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100295", "0100295", "mim:502500", "502500" ] }, { "record_id": "MONDO:0100295", "record_type": "disease", "section": "disease_name", "phraselist": [ "alzheimer", "disease", "susceptibility", "to", "mitochondrial", "alzheimer disease", "susceptibility to", "disease susceptibility", "to mitochondrial", "alzheimer disease susceptibility", "disease susceptibility to", "susceptibility to mitochondrial", "alzheimer disease susceptibility to", "disease mitochondrial", "alzheimer disease mitochondrial" ] }, { "record_id": "MONDO:0100295", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100295", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100295", "record_type": "disease", "section": "proteins", "phraselist": [ "p03891", "p03891 1", "nu2m_human", "yp_003024027", "mt", "nd2", "mt nd2", "mtnd2", "nadh2", "p03886", "p03886 1", "nu1m_human", "yp_003024026", "glycoprotein", "nd1", "mt nd1", "mtnd1", "nadh1" ] }, { "record_id": "MONDO:0100295", "record_type": "disease", "section": "proteins", "phraselist": [ "nadh", "ubiquinone", "oxidoreductase", "chain", "nadh ubiquinone", "ubiquinone oxidoreductase", "oxidoreductase chain", "chain 2", "nadh ubiquinone oxidoreductase", "ubiquinone oxidoreductase chain", "oxidoreductase chain 2", "nadh ubiquinone oxidoreductase chain", "ubiquinone oxidoreductase chain 2", "nadh ubiquinone oxidoreductase chain 2", "7.1.1.2", "dehydrogenase", "subunit", "nadh dehydrogenase", "dehydrogenase subunit", "subunit 2", "nadh dehydrogenase subunit", "dehydrogenase subunit 2", "nadh dehydrogenase subunit 2", "chain 1", "oxidoreductase chain 1", "ubiquinone oxidoreductase chain 1", "nadh ubiquinone oxidoreductase chain 1", "subunit 1", "dehydrogenase subunit 1", "nadh dehydrogenase subunit 1" ] }, { "record_id": "MONDO:0100303", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100303", "0100303", "mim:607602", "607602" ] }, { "record_id": "MONDO:0100303", "record_type": "disease", "section": "disease_name", "phraselist": [ "ichthyosis", "annular", "epidermolytic", "annular epidermolytic", "epidermolytic 1", "ichthyosis annular", "annular epidermolytic 1", "ichthyosis annular epidermolytic", "ichthyosis annular epidermolytic 1" ] }, { "record_id": "MONDO:0100303", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100303", "record_type": "disease", "section": "proteins", "phraselist": [ "p13645", "p13645 1", "k1c10_human", "glycoprotein", "krt10", "kpp" ] }, { "record_id": "MONDO:0100303", "record_type": "disease", "section": "proteins", "phraselist": [ "keratin", "type", "cytoskeletal", "10", "type i", "i cytoskeletal", "cytoskeletal 10", "keratin type", "type i cytoskeletal", "i cytoskeletal 10", "keratin type i", "type i cytoskeletal 10", "keratin type i cytoskeletal", "ck", "ck 10", "cytokeratin", "cytokeratin 10", "k10", "keratin 10" ] }, { "record_id": "MONDO:0100325", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100325", "0100325", "mim:184260", "184260" ] }, { "record_id": "MONDO:0100325", "record_type": "disease", "section": "disease_name", "phraselist": [ "odontochondrodysplasia", "odontochondrodysplasia 1", "goldblatt", "chondrodysplasia", "goldblatt chondrodysplasia", "syndrome", "goldblatt syndrome", "odcd", "dentinogenesis", "imperfecta", "joint", "laxity", "chondrodysplasia dentinogenesis", "dentinogenesis imperfecta", "imperfecta joint", "joint laxity", "laxity syndrome", "chondrodysplasia dentinogenesis imperfecta", "dentinogenesis imperfecta joint", "imperfecta joint laxity", "joint laxity syndrome", "chondrodysplasia dentinogenesis imperfecta joint", "dentinogenesis imperfecta joint laxity", "imperfecta joint laxity syndrome", "chondrodysplasia dentinogenesis imperfecta joint laxity", "dentinogenesis imperfecta joint laxity syndrome" ] }, { "record_id": "MONDO:0100325", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100325", "record_type": "disease", "section": "proteins", "phraselist": [ "q15643", "q15643 1", "tripb_human", "np_004230", "glycoprotein", "trip11", "acg1a", "cev14", "gmap", "210", "gmap 210", "gmap210", "odcd1", "odcd", "trip", "11", "trip 11", "trip230" ] }, { "record_id": "MONDO:0100325", "record_type": "disease", "section": "proteins", "phraselist": [ "thyroid", "receptor", "interacting", "protein", "11", "thyroid receptor", "receptor interacting", "interacting protein", "protein 11", "thyroid receptor interacting", "receptor interacting protein", "interacting protein 11", "thyroid receptor interacting protein", "receptor interacting protein 11", "thyroid receptor interacting protein 11", "clonal", "evolution", "related", "gene", "on", "chromosome", "14", "clonal evolution", "evolution related", "related gene", "gene on", "on chromosome", "chromosome 14", "14 protein", "clonal evolution related", "evolution related gene", "related gene on", "gene on chromosome", "on chromosome 14", "chromosome 14 protein", "clonal evolution related gene", "evolution related gene on", "related gene on chromosome", "gene on chromosome 14", "on chromosome 14 protein", "clonal evolution related gene on", "evolution related gene on chromosome", "related gene on chromosome 14", "gene on chromosome 14 protein", "gmap", "210", "gmap 210", "golgi", "associated", "microtubule", "binding", "golgi associated", "associated microtubule", "microtubule binding", "binding protein", "protein 210", "golgi associated microtubule", "associated microtubule binding", "microtubule binding protein", "binding protein 210", "golgi associated microtubule binding", "associated microtubule binding protein", "microtubule binding protein 210", "golgi associated microtubule binding protein", "associated microtubule binding protein 210", "of", "kda", "golgi microtubule", "microtubule associated", "associated protein", "protein of", "of 210", "210 kda", "golgi microtubule associated", "microtubule associated protein", "associated protein of", "protein of 210", "of 210 kda", "golgi microtubule associated protein", "microtubule associated protein of", "associated protein of 210", "protein of 210 kda", "golgi microtubule associated protein of", "microtubule associated protein of 210", "associated protein of 210 kda", "tr", "tr interacting", "tr interacting protein", "tr interacting protein 11", "trip", "trip 11", "trip230", "isoform", "11 isoform", "isoform 1", "protein 11 isoform", "11 isoform 1", "interacting protein 11 isoform", "protein 11 isoform 1", "receptor interacting protein 11 isoform", "interacting protein 11 isoform 1" ] }, { "record_id": "MONDO:0100348", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100348", "0100348", "mim:619091", "619091" ] }, { "record_id": "MONDO:0100348", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "impaired", "language", "and", "gait", "abnormalities", "neurodevelopmental disorder", "disorder with", "with microcephaly", "impaired language", "and gait", "gait abnormalities", "neurodevelopmental disorder with", "disorder with microcephaly", "microcephaly impaired", "language and", "and gait abnormalities", "neurodevelopmental disorder with microcephaly", "with microcephaly impaired", "microcephaly impaired language", "impaired language and", "language and gait", "disorder with microcephaly impaired", "with microcephaly impaired language", "impaired language and gait", "language and gait abnormalities", "nedmilg", "ar", "nedmilg ar", "autosomal", "recessive", "autosomal recessive", "abnormalities autosomal", "gait abnormalities autosomal", "abnormalities autosomal recessive", "and gait abnormalities autosomal", "gait abnormalities autosomal recessive" ] }, { "record_id": "MONDO:0100348", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100348", "record_type": "disease", "section": "proteins", "phraselist": [ "o43776", "o43776 1", "sync_human", "np_004530", "glycoprotein", "nars1", "asnrs", "nars", "nedmileg", "nedmilg", "nrs" ] }, { "record_id": "MONDO:0100348", "record_type": "disease", "section": "proteins", "phraselist": [ "asparagine", "trna", "ligase", "cytoplasmic", "trna ligase", "asparagine trna", "ligase cytoplasmic", "asparagine trna ligase", "trna ligase cytoplasmic", "6.1.1.22", "asnrs", "asparaginyl", "synthetase", "asparaginyl trna", "trna synthetase", "synthetase 1", "asparaginyl trna synthetase", "trna synthetase 1", "asparaginyl trna synthetase 1", "ligase 1", "trna ligase 1", "1 cytoplasmic", "asparagine trna ligase 1", "ligase 1 cytoplasmic", "trna ligase 1 cytoplasmic", "synthetase cytoplasmic", "trna synthetase cytoplasmic", "asparaginyl trna synthetase cytoplasmic" ] }, { "record_id": "MONDO:0100433", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100433", "0100433", "mim:620475", "620475" ] }, { "record_id": "MONDO:0100433", "record_type": "disease", "section": "disease_name", "phraselist": [ "actb", "associated", "syndromic", "thrombocytopenia", "actb associated", "associated syndromic", "syndromic thrombocytopenia", "actb associated syndromic", "associated syndromic thrombocytopenia", "actb associated syndromic thrombocytopenia", "ast", "actb ast", "with", "dysmorphic", "features", "and", "developmental", "delay", "thrombocytopenia 8", "with dysmorphic", "dysmorphic features", "features and", "and developmental", "developmental delay", "8 with", "with dysmorphic features", "dysmorphic features and", "features and developmental", "and developmental delay", "thrombocytopenia 8 with", "8 with dysmorphic", "with dysmorphic features and", "dysmorphic features and developmental", "features and developmental delay", "thrombocytopenia 8 with dysmorphic", "8 with dysmorphic features", "with dysmorphic features and developmental", "dysmorphic features and developmental delay" ] }, { "record_id": "MONDO:0100433", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100433", "record_type": "disease", "section": "proteins", "phraselist": [ "p60709", "p60709 1", "actb_human", "np_001092", "glycoprotein", "actb", "bkrns", "bns", "brws1", "csmh", "dds1", "ps1tp5bp1", "thc8" ] }, { "record_id": "MONDO:0100433", "record_type": "disease", "section": "proteins", "phraselist": [ "actin", "cytoplasmic", "cytoplasmic 1", "actin cytoplasmic", "actin cytoplasmic 1", "3.6.4.", "beta", "beta actin", "i 2", "2 actin", "i 2 actin", "ps1tp5", "binding", "protein", "ps1tp5 binding", "binding protein", "protein 1", "ps1tp5 binding protein", "binding protein 1", "ps1tp5 binding protein 1", "cytoskeletal", "beta cytoskeletal", "cytoskeletal actin", "beta cytoskeletal actin" ] }, { "record_id": "MONDO:0100476", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100476", "0100476", "mim:608709", "608709" ] }, { "record_id": "MONDO:0100476", "record_type": "disease", "section": "disease_name", "phraselist": [ "lipodystrophy", "partial", "acquired", "susceptibility", "to", "susceptibility to", "lipodystrophy partial", "partial acquired", "acquired susceptibility", "acquired susceptibility to", "lipodystrophy partial acquired", "partial acquired susceptibility", "apld", "apld susceptibility", "apld susceptibility to", "barraquer", "simons", "syndrome", "barraquer simons", "simons syndrome", "barraquer simons syndrome", "cephalothoracic", "type", "cephalothoracic type", "lipodystrophy cephalothoracic", "lipodystrophy cephalothoracic type", "progressive", "partial progressive", "lipodystrophy partial progressive", "acquired lipodystrophy", "partial acquired lipodystrophy" ] }, { "record_id": "MONDO:0100476", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100476", "record_type": "disease", "section": "proteins", "phraselist": [ "q03252", "q03252 1", "lmnb2_human", "np_116126", "glycoprotein", "lmnb2", "epm9", "lamb2", "lmn2", "mcph27" ] }, { "record_id": "MONDO:0100476", "record_type": "disease", "section": "proteins", "phraselist": [ "lamin", "b2", "lamin b2", "epididymis", "secretory", "sperm", "binding", "protein", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "b3", "lamin b3" ] }, { "record_id": "MONDO:0100532", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100532", "0100532", "mim:606798", "606798" ] }, { "record_id": "MONDO:0100532", "record_type": "disease", "section": "disease_name", "phraselist": [ "blepharospasm", "benign", "essential", "susceptibility", "to", "benign essential", "susceptibility to", "blepharospasm benign", "essential susceptibility", "blepharospasm benign essential", "benign essential susceptibility", "essential susceptibility to", "benign essential susceptibility to", "essential blepharospasm", "benign essential blepharospasm" ] }, { "record_id": "MONDO:0100532", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100532", "record_type": "disease", "section": "proteins", "phraselist": [ "p21918", "p21918 1", "drd5_human", "np_000789", "glycoprotein", "drd5", "dbdr", "drd1b", "drd1l2" ] }, { "record_id": "MONDO:0100532", "record_type": "disease", "section": "proteins", "phraselist": [ "1b", "dopamine", "receptor", "d 1b", "dopamine receptor", "1b dopamine", "d 1b dopamine", "1b dopamine receptor", "d 1b dopamine receptor", "d 5", "5 dopamine", "d 5 dopamine", "5 dopamine receptor", "d 5 dopamine receptor", "d1beta", "d1beta dopamine", "d1beta dopamine receptor", "d5", "dopamine d5", "d5 receptor", "dopamine d5 receptor", "d1b", "receptor d1b", "dopamine receptor d1b" ] }, { "record_id": "MONDO:0100533", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100533", "0100533", "mim:614519", "614519" ] }, { "record_id": "MONDO:0100533", "record_type": "disease", "section": "disease_name", "phraselist": [ "hemorrhage", "intracerebral", "susceptibility", "to", "susceptibility to", "hemorrhage intracerebral", "intracerebral susceptibility", "intracerebral susceptibility to", "hemorrhage intracerebral susceptibility", "ich", "intracerebral hemorrhage" ] }, { "record_id": "MONDO:0100533", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100533", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100533", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100533", "record_type": "disease", "section": "proteins", "phraselist": [ "p12821", "p12821 1", "ace_human", "np_000780", "glycoprotein", "ace", "ace1", "cd143", "dcp1", "dcp", "p02462", "p02462 1", "co4a1_human", "np_001290039", "col4a1", "bsvd1", "bsvd", "col4a1s", "padmal", "rator", "p08572", "p08572 1", "co4a2_human", "np_001837", "col4a2", "bsvd2a", "bsvd2b", "bsvd2", "ich", "poren2" ] }, { "record_id": "MONDO:0100533", "record_type": "disease", "section": "proteins", "phraselist": [ "angiotensin", "converting", "enzyme", "angiotensin converting", "converting enzyme", "angiotensin converting enzyme", "3.4.15.1", "ace", "cd143", "antigen", "cd143 antigen", "dipeptidyl", "carboxypeptidase", "dipeptidyl carboxypeptidase", "carboxypeptidase i", "dipeptidyl carboxypeptidase i", "kininase", "ii", "kininase ii", "peptidyl", "dipeptidase", "angiotensin i", "i converting", "peptidyl dipeptidase", "dipeptidase a", "angiotensin i converting", "i converting enzyme", "enzyme peptidyl", "peptidyl dipeptidase a", "a 1", "angiotensin i converting enzyme", "converting enzyme peptidyl", "enzyme peptidyl dipeptidase", "dipeptidase a 1", "i converting enzyme peptidyl", "converting enzyme peptidyl dipeptidase", "enzyme peptidyl dipeptidase a", "peptidyl dipeptidase a 1", "isoform", "precursor", "enzyme isoform", "isoform 1", "1 precursor", "converting enzyme isoform", "enzyme isoform 1", "isoform 1 precursor", "angiotensin converting enzyme isoform", "converting enzyme isoform 1", "enzyme isoform 1 precursor", "angiotensin converting enzyme isoform 1", "converting enzyme isoform 1 precursor", "carboxycathepsin", "carboxypeptidase 1", "dipeptidyl carboxypeptidase 1", "peptidase", "peptidase p", "collagen", "alpha", "iv", "chain", "collagen alpha", "alpha 1", "1 iv", "collagen alpha 1", "alpha 1 iv", "iv chain", "collagen alpha 1 iv", "1 iv chain", "alpha 1 iv chain", "col4a1", "nc1", "domain", "col4a1 nc1", "nc1 domain", "col4a1 nc1 domain", "arresten", "polypeptide", "collagen iv", "1 polypeptide", "iv alpha", "alpha 1 polypeptide", "collagen iv alpha", "iv alpha 1", "collagen iv alpha 1", "iv alpha 1 polypeptide", "chain isoform", "isoform 2", "2 precursor", "chain isoform 2", "isoform 2 precursor", "iv chain isoform", "chain isoform 2 precursor", "1 iv chain isoform", "iv chain isoform 2", "of", "basement", "membrane", "collagen of", "of basement", "basement membrane", "1 chain", "collagen of basement", "of basement membrane", "membrane alpha", "alpha 1 chain", "collagen of basement membrane", "basement membrane alpha", "membrane alpha 1", "of basement membrane alpha", "basement membrane alpha 1", "membrane alpha 1 chain", "alpha 2", "2 iv", "collagen alpha 2", "alpha 2 iv", "collagen alpha 2 iv", "2 iv chain", "alpha 2 iv chain", "canstatin", "preproprotein", "chain preproprotein", "iv chain preproprotein", "2 iv chain preproprotein" ] }, { "record_id": "MONDO:0100607", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0100607", "0100607", "mim:621125", "621125" ] }, { "record_id": "MONDO:0100607", "record_type": "disease", "section": "disease_name", "phraselist": [ "ciliary", "dyskinesia", "primary", "54", "ciliary dyskinesia", "dyskinesia primary", "primary 54", "ciliary dyskinesia primary", "dyskinesia primary 54", "cfap54", "related", "cfap54 related", "related primary", "primary ciliary", "cfap54 related primary", "related primary ciliary", "primary ciliary dyskinesia", "cfap54 related primary ciliary", "related primary ciliary dyskinesia", "cfap54 related primary ciliary dyskinesia" ] }, { "record_id": "MONDO:0100607", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0100607", "record_type": "disease", "section": "proteins", "phraselist": [ "q96n23", "q96n23 1", "cfa54_human", "np_001293013", "glycoprotein", "cfap54", "c12orf55", "c12orf63", "cild54", "spgf98" ] }, { "record_id": "MONDO:0100607", "record_type": "disease", "section": "proteins", "phraselist": [ "cilia", "and", "flagella", "associated", "protein", "54", "and flagella", "flagella associated", "associated protein", "protein 54", "cilia and", "and flagella associated", "flagella associated protein", "associated protein 54", "cilia and flagella", "and flagella associated protein", "flagella associated protein 54", "cilia and flagella associated", "and flagella associated protein 54", "associated 54", "flagella associated 54", "and flagella associated 54", "cilia and flagella associated 54", "isoform", "54 isoform", "isoform 1", "protein 54 isoform", "54 isoform 1", "associated protein 54 isoform", "protein 54 isoform 1", "flagella associated protein 54 isoform", "associated protein 54 isoform 1" ] }, { "record_id": "MONDO:0700041", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0700041", "0700041", "mim:613013", "613013" ] }, { "record_id": "MONDO:0700041", "record_type": "disease", "section": "disease_name", "phraselist": [ "neuroblastoma", "susceptibility", "to", "susceptibility to", "neuroblastoma susceptibility", "to 2", "neuroblastoma susceptibility to", "susceptibility to 2", "nblst2", "type", "type 2", "to type", "susceptibility to type", "to type 2", "susceptibility to type 2", "to neuroblastoma", "neuroblastoma 2", "susceptibility to neuroblastoma", "to neuroblastoma 2", "susceptibility to neuroblastoma 2" ] }, { "record_id": "MONDO:0700041", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0700041", "record_type": "disease", "section": "proteins", "phraselist": [ "q99453", "q99453 1", "phx2b_human", "np_003915", "glycoprotein", "phox2b", "cchs", "nblst2", "nbphox", "pmx2b" ] }, { "record_id": "MONDO:0700041", "record_type": "disease", "section": "proteins", "phraselist": [ "paired", "mesoderm", "homeobox", "protein", "2b", "paired mesoderm", "mesoderm homeobox", "homeobox protein", "protein 2b", "paired mesoderm homeobox", "mesoderm homeobox protein", "homeobox protein 2b", "paired mesoderm homeobox protein", "mesoderm homeobox protein 2b", "paired mesoderm homeobox protein 2b", "nbphox", "neuroblastoma", "phox", "neuroblastoma phox", "phox2b", "homeodomain", "phox2b homeodomain", "homeodomain protein", "phox2b homeodomain protein", "like", "paired like", "like homeobox", "homeobox 2b", "paired like homeobox", "like homeobox 2b", "paired like homeobox 2b", "type", "neuroblastoma paired", "paired type", "type homeobox", "neuroblastoma paired type", "paired type homeobox", "type homeobox protein", "neuroblastoma paired type homeobox", "paired type homeobox protein", "neuroblastoma paired type homeobox protein", "homeobox2b", "like homeobox2b", "paired like homeobox2b", "mesoderm homeobox 2b", "paired mesoderm homeobox 2b" ] }, { "record_id": "MONDO:0700288", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0700288", "0700288", "mim:621129", "621129" ] }, { "record_id": "MONDO:0700288", "record_type": "disease", "section": "disease_name", "phraselist": [ "early", "childhood", "onset", "neurodegeneration", "with", "retinitis", "pigmentosa", "sensorineural", "hearing", "loss", "and", "demyelinating", "peripheral", "neuropathy", "early childhood", "childhood onset", "onset neurodegeneration", "neurodegeneration with", "with retinitis", "retinitis pigmentosa", "sensorineural hearing", "hearing loss", "and demyelinating", "demyelinating peripheral", "peripheral neuropathy", "early childhood onset", "childhood onset neurodegeneration", "onset neurodegeneration with", "neurodegeneration with retinitis", "with retinitis pigmentosa", "pigmentosa sensorineural", "sensorineural hearing loss", "loss and", "and demyelinating peripheral", "demyelinating peripheral neuropathy", "early childhood onset neurodegeneration", "childhood onset neurodegeneration with", "onset neurodegeneration with retinitis", "neurodegeneration with retinitis pigmentosa", "retinitis pigmentosa sensorineural", "pigmentosa sensorineural hearing", "hearing loss and", "loss and demyelinating", "and demyelinating peripheral neuropathy", "early childhood onset neurodegeneration with", "childhood onset neurodegeneration with retinitis", "onset neurodegeneration with retinitis pigmentosa", "with retinitis pigmentosa sensorineural", "retinitis pigmentosa sensorineural hearing", "pigmentosa sensorineural hearing loss", "sensorineural hearing loss and", "hearing loss and demyelinating", "loss and demyelinating peripheral", "neurodegeneration early", "onset with", "neurodegeneration early childhood", "childhood onset with", "onset with retinitis", "neurodegeneration early childhood onset", "early childhood onset with", "childhood onset with retinitis", "onset with retinitis pigmentosa" ] }, { "record_id": "MONDO:0700288", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0700288", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nsk0", "q9nsk0 1", "klc4_human", "np_001275963", "glycoprotein", "klc4", "condrhn", "knsl8", "ba387m24.3" ] }, { "record_id": "MONDO:0700288", "record_type": "disease", "section": "proteins", "phraselist": [ "kinesin", "light", "chain", "kinesin light", "light chain", "chain 4", "kinesin light chain", "light chain 4", "kinesin light chain 4", "klc", "klc 4", "like", "protein", "kinesin like", "like protein", "protein 8", "kinesin like protein", "like protein 8", "kinesin like protein 8", "isoform", "4 isoform", "isoform a", "chain 4 isoform", "4 isoform a", "light chain 4 isoform", "chain 4 isoform a", "kinesin light chain 4 isoform", "light chain 4 isoform a" ] }, { "record_id": "MONDO:0700290", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0700290", "0700290", "mim:621124", "621124" ] }, { "record_id": "MONDO:0700290", "record_type": "disease", "section": "disease_name", "phraselist": [ "spermatogenic", "failure", "98", "spermatogenic failure", "failure 98", "spermatogenic failure 98" ] }, { "record_id": "MONDO:0700297", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0700297", "0700297", "mim:620952", "620952" ] }, { "record_id": "MONDO:0700297", "record_type": "disease", "section": "disease_name", "phraselist": [ "homocystinuria", "megaloblastic", "anemia", "cbld", "type", "homocystinuria megaloblastic", "megaloblastic anemia", "anemia cbld", "cbld type", "homocystinuria megaloblastic anemia", "megaloblastic anemia cbld", "anemia cbld type", "homocystinuria megaloblastic anemia cbld", "megaloblastic anemia cbld type", "homocystinuria megaloblastic anemia cbld type" ] }, { "record_id": "MONDO:0700297", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0700297", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h3l0", "q9h3l0 1", "mmad_human", "np_056517", "glycoprotein", "mmadhc", "c2orf25", "cl25022", "hmad", "hspc161", "macd", "mahcd", "my011", "cbld" ] }, { "record_id": "MONDO:0700297", "record_type": "disease", "section": "proteins", "phraselist": [ "cobalamin", "trafficking", "protein", "cbld", "cobalamin trafficking", "trafficking protein", "protein cbld", "cobalamin trafficking protein", "trafficking protein cbld", "cobalamin trafficking protein cbld", "methylmalonic", "aciduria", "and", "homocystinuria", "type", "mitochondrial", "methylmalonic aciduria", "aciduria and", "and homocystinuria", "homocystinuria type", "type d", "d protein", "methylmalonic aciduria and", "aciduria and homocystinuria", "and homocystinuria type", "homocystinuria type d", "type d protein", "protein mitochondrial", "methylmalonic aciduria and homocystinuria", "aciduria and homocystinuria type", "and homocystinuria type d", "homocystinuria type d protein", "d protein mitochondrial", "methylmalonic aciduria and homocystinuria type", "aciduria and homocystinuria type d", "and homocystinuria type d protein", "type d protein mitochondrial", "deficiency", "with", "cobalamin deficiency", "cbld type", "with homocystinuria", "aciduria cobalamin", "deficiency cbld", "type with", "methylmalonic aciduria cobalamin", "aciduria cobalamin deficiency", "cobalamin deficiency cbld", "deficiency cbld type", "cbld type with", "type with homocystinuria", "methylmalonic aciduria cobalamin deficiency", "cobalamin deficiency cbld type", "cbld type with homocystinuria", "c2orf25", "protein c2orf25", "c2orf25 mitochondrial", "protein c2orf25 mitochondrial" ] }, { "record_id": "MONDO:0700298", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0700298", "0700298", "mim:620953", "620953" ] }, { "record_id": "MONDO:0700298", "record_type": "disease", "section": "disease_name", "phraselist": [ "isolated", "methylmalonic", "aciduria", "cbld", "type", "isolated methylmalonic", "methylmalonic aciduria", "aciduria cbld", "cbld type", "isolated methylmalonic aciduria", "methylmalonic aciduria cbld", "aciduria cbld type", "isolated methylmalonic aciduria cbld", "methylmalonic aciduria cbld type", "isolated methylmalonic aciduria cbld type" ] }, { "record_id": "MONDO:0700298", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0700298", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h3l0", "q9h3l0 1", "mmad_human", "np_056517", "glycoprotein", "mmadhc", "c2orf25", "cl25022", "hmad", "hspc161", "macd", "mahcd", "my011", "cbld" ] }, { "record_id": "MONDO:0700298", "record_type": "disease", "section": "proteins", "phraselist": [ "cobalamin", "trafficking", "protein", "cbld", "cobalamin trafficking", "trafficking protein", "protein cbld", "cobalamin trafficking protein", "trafficking protein cbld", "cobalamin trafficking protein cbld", "methylmalonic", "aciduria", "and", "homocystinuria", "type", "mitochondrial", "methylmalonic aciduria", "aciduria and", "and homocystinuria", "homocystinuria type", "type d", "d protein", "methylmalonic aciduria and", "aciduria and homocystinuria", "and homocystinuria type", "homocystinuria type d", "type d protein", "protein mitochondrial", "methylmalonic aciduria and homocystinuria", "aciduria and homocystinuria type", "and homocystinuria type d", "homocystinuria type d protein", "d protein mitochondrial", "methylmalonic aciduria and homocystinuria type", "aciduria and homocystinuria type d", "and homocystinuria type d protein", "type d protein mitochondrial", "deficiency", "with", "cobalamin deficiency", "cbld type", "with homocystinuria", "aciduria cobalamin", "deficiency cbld", "type with", "methylmalonic aciduria cobalamin", "aciduria cobalamin deficiency", "cobalamin deficiency cbld", "deficiency cbld type", "cbld type with", "type with homocystinuria", "methylmalonic aciduria cobalamin deficiency", "cobalamin deficiency cbld type", "cbld type with homocystinuria", "c2orf25", "protein c2orf25", "c2orf25 mitochondrial", "protein c2orf25 mitochondrial" ] }, { "record_id": "MONDO:0700299", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0700299", "0700299", "mim:620990", "620990" ] }, { "record_id": "MONDO:0700299", "record_type": "disease", "section": "disease_name", "phraselist": [ "acth", "independent", "macronodular", "adrenal", "hyperplasia", "acth independent", "independent macronodular", "macronodular adrenal", "adrenal hyperplasia", "hyperplasia 3", "acth independent macronodular", "independent macronodular adrenal", "macronodular adrenal hyperplasia", "adrenal hyperplasia 3", "acth independent macronodular adrenal", "independent macronodular adrenal hyperplasia", "macronodular adrenal hyperplasia 3", "acth independent macronodular adrenal hyperplasia", "independent macronodular adrenal hyperplasia 3", "aimah3", "cushing", "syndrome", "food", "dependent", "cushing syndrome", "food dependent", "syndrome food", "cushing syndrome food", "syndrome food dependent", "cushing syndrome food dependent" ] }, { "record_id": "MONDO:0700299", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0700299", "record_type": "disease", "section": "proteins", "phraselist": [ "o60341", "o60341 1", "kdm1a_human", "np_001009999", "glycoprotein", "kdm1a", "aimah3", "aof2", "bhc110", "cprf", "kdm1", "kiaa0601", "lsd1" ] }, { "record_id": "MONDO:0700299", "record_type": "disease", "section": "proteins", "phraselist": [ "lysine", "specific", "histone", "demethylase", "1a", "lysine specific", "specific histone", "histone demethylase", "demethylase 1a", "lysine specific histone", "specific histone demethylase", "histone demethylase 1a", "lysine specific histone demethylase", "specific histone demethylase 1a", "lysine specific histone demethylase 1a", "1.14.11.", "1.14.11.65", "1.14.99.66", "braf35", "hdac", "complex", "protein", "bhc110", "braf35 hdac", "hdac complex", "complex protein", "protein bhc110", "braf35 hdac complex", "hdac complex protein", "complex protein bhc110", "braf35 hdac complex protein", "hdac complex protein bhc110", "braf35 hdac complex protein bhc110", "fad", "binding", "110", "kda", "subunit", "fad binding", "binding protein", "protein braf35", "110 kda", "kda subunit", "fad binding protein", "binding protein braf35", "protein braf35 hdac", "complex 110", "110 kda subunit", "fad binding protein braf35", "binding protein braf35 hdac", "protein braf35 hdac complex", "hdac complex 110", "complex 110 kda", "fad binding protein braf35 hdac", "binding protein braf35 hdac complex", "braf35 hdac complex 110", "hdac complex 110 kda", "complex 110 kda subunit", "flavin", "containing", "amine", "oxidase", "domain", "flavin containing", "containing amine", "amine oxidase", "oxidase domain", "domain containing", "containing protein", "protein 2", "flavin containing amine", "containing amine oxidase", "amine oxidase domain", "oxidase domain containing", "domain containing protein", "containing protein 2", "flavin containing amine oxidase", "containing amine oxidase domain", "amine oxidase domain containing", "oxidase domain containing protein", "domain containing protein 2", "flavin containing amine oxidase domain", "containing amine oxidase domain containing", "amine oxidase domain containing protein", "oxidase domain containing protein 2", "h3", "dimethyl", "dependent", "histone h3", "dimethyl l", "l lysine", "lysine 4", "fad dependent", "dependent demethylase", "h3 dimethyl", "dimethyl l lysine", "l lysine 4", "4 fad", "fad dependent demethylase", "dependent demethylase 1a", "histone h3 dimethyl", "h3 dimethyl l", "dimethyl l lysine 4", "lysine 4 fad", "4 fad dependent", "fad dependent demethylase 1a", "histone h3 dimethyl l", "h3 dimethyl l lysine", "l lysine 4 fad", "lysine 4 fad dependent", "4 fad dependent demethylase", "domain 2", "oxidase flavin", "containing domain", "amine oxidase flavin", "oxidase flavin containing", "flavin containing domain", "containing domain 2", "amine oxidase flavin containing", "flavin containing domain 2", "specific demethylase", "lysine k", "k specific", "specific demethylase 1a", "k specific demethylase", "lysine k specific", "k specific demethylase 1a", "isoform", "1a isoform", "isoform a", "demethylase 1a isoform", "1a isoform a", "histone demethylase 1a isoform", "demethylase 1a isoform a", "specific histone demethylase 1a isoform", "histone demethylase 1a isoform a", "demethylase 1", "histone demethylase 1", "specific histone demethylase 1", "lysine specific histone demethylase 1" ] }, { "record_id": "MONDO:0700300", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0700300", "0700300", "mim:621123", "621123" ] }, { "record_id": "MONDO:0700300", "record_type": "disease", "section": "disease_name", "phraselist": [ "achalasia", "progeroid", "syndrome", "achalasia progeroid", "progeroid syndrome", "achalasia progeroid syndrome" ] }, { "record_id": "MONDO:0700300", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0700300", "record_type": "disease", "section": "proteins", "phraselist": [ "q9brd0", "q9brd0 1", "bud13_human", "np_001153208", "bud13", "achps", "cwc26", "fsap71" ] }, { "record_id": "MONDO:0700300", "record_type": "disease", "section": "proteins", "phraselist": [ "bud13", "homolog", "bud13 homolog", "isoform", "homolog isoform", "isoform 2", "bud13 homolog isoform", "homolog isoform 2", "bud13 homolog isoform 2", "functional", "spliceosome", "associated", "protein", "71", "functional spliceosome", "spliceosome associated", "associated protein", "protein 71", "functional spliceosome associated", "spliceosome associated protein", "associated protein 71", "functional spliceosome associated protein", "spliceosome associated protein 71", "functional spliceosome associated protein 71" ] }, { "record_id": "MONDO:0700301", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0700301", "0700301", "mim:621130", "621130" ] }, { "record_id": "MONDO:0700301", "record_type": "disease", "section": "disease_name", "phraselist": [ "fischer", "zirnsak", "progeroid", "syndrome", "fischer zirnsak", "zirnsak progeroid", "progeroid syndrome", "fischer zirnsak progeroid", "zirnsak progeroid syndrome", "fischer zirnsak progeroid syndrome" ] }, { "record_id": "MONDO:0700301", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0700301", "record_type": "disease", "section": "proteins", "phraselist": [ "o94864", "o94864 1", "st65g_human", "np_001269658", "glycoprotein", "supt7l", "fzps", "kiaa0764", "spt7l", "staf65", "gamma", "staf65 gamma", "staf65g", "supt7h" ] }, { "record_id": "MONDO:0700301", "record_type": "disease", "section": "proteins", "phraselist": [ "staga", "complex", "65", "subunit", "gamma", "staga complex", "complex 65", "65 subunit", "subunit gamma", "staga complex 65", "complex 65 subunit", "65 subunit gamma", "staga complex 65 subunit", "complex 65 subunit gamma", "staga complex 65 subunit gamma", "adenocarcinoma", "antigen", "art1", "adenocarcinoma antigen", "antigen art1", "adenocarcinoma antigen art1", "spt7", "like", "spt7 like", "complex gamma", "gamma subunit", "like staga", "staga complex gamma", "complex gamma subunit", "spt7 like staga", "like staga complex", "staga complex gamma subunit", "spt7 like staga complex", "like staga complex gamma", "sptf", "associated", "factor", "sptf associated", "associated factor", "factor 65", "65 gamma", "sptf associated factor", "associated factor 65", "factor 65 gamma", "sptf associated factor 65", "associated factor 65 gamma", "sptf associated factor 65 gamma", "staf65gamma", "complex 65 gamma", "65 gamma subunit", "staga complex 65 gamma", "complex 65 gamma subunit", "staga complex 65 gamma subunit", "isoform", "gamma isoform", "isoform a", "subunit gamma isoform", "gamma isoform a", "65 subunit gamma isoform", "subunit gamma isoform a", "complex 65 subunit gamma isoform", "65 subunit gamma isoform a", "suppressor", "of", "ty", "suppressor of", "of ty", "ty 7", "7 like", "suppressor of ty", "of ty 7", "ty 7 like", "suppressor of ty 7", "of ty 7 like", "suppressor of ty 7 like" ] }, { "record_id": "MONDO:0700387", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0700387", "0700387" ] }, { "record_id": "MONDO:0700387", "record_type": "disease", "section": "disease_name", "phraselist": [ "dentin", "dysplasia", "type", "ib", "dentin dysplasia", "type ib", "dysplasia type", "dentin dysplasia type", "dysplasia type ib", "dentin dysplasia type ib" ] }, { "record_id": "MONDO:0700388", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0700388", "0700388", "mim:616117", "616117" ] }, { "record_id": "MONDO:0700388", "record_type": "disease", "section": "disease_name", "phraselist": [ "cardiac", "conduction", "disease", "with", "or", "without", "dilated", "cardiomyopathy", "cardiac conduction", "conduction disease", "disease with", "with or", "or without", "without dilated", "dilated cardiomyopathy", "cardiomyopathy 1", "cardiac conduction disease", "conduction disease with", "disease with or", "with or without", "or without dilated", "without dilated cardiomyopathy", "dilated cardiomyopathy 1", "cardiac conduction disease with", "conduction disease with or", "disease with or without", "with or without dilated", "or without dilated cardiomyopathy", "without dilated cardiomyopathy 1", "cardiac conduction disease with or", "conduction disease with or without", "disease with or without dilated", "with or without dilated cardiomyopathy", "or without dilated cardiomyopathy 1" ] }, { "record_id": "MONDO:0700388", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0700388", "record_type": "disease", "section": "proteins", "phraselist": [ "q59h18", "q59h18 2", "tni3k_human", "np_057062", "tnni3k", "cark", "ccdd" ] }, { "record_id": "MONDO:0700388", "record_type": "disease", "section": "proteins", "phraselist": [ "serine/threonine", "protein", "kinase", "tnni3k", "serine/threonine protein", "protein kinase", "kinase tnni3k", "serine/threonine protein kinase", "protein kinase tnni3k", "serine/threonine protein kinase tnni3k", "2.7.11.1", "cardiac", "ankyrin", "repeat", "cardiac ankyrin", "ankyrin repeat", "repeat kinase", "cardiac ankyrin repeat", "ankyrin repeat kinase", "cardiac ankyrin repeat kinase", "troponin", "interacting", "cardiac troponin", "troponin i", "i interacting", "interacting kinase", "cardiac troponin i", "troponin i interacting", "i interacting kinase", "cardiac troponin i interacting", "troponin i interacting kinase", "cardiac troponin i interacting kinase", "tnni3", "tnni3 interacting", "tnni3 interacting kinase" ] }, { "record_id": "MONDO:0700389", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0700389", "0700389" ] }, { "record_id": "MONDO:0700389", "record_type": "disease", "section": "disease_name", "phraselist": [ "cardiac", "conduction", "disease", "with", "or", "without", "cardiomyopathy", "cardiac conduction", "conduction disease", "disease with", "with or", "or without", "without cardiomyopathy", "cardiomyopathy 2", "cardiac conduction disease", "conduction disease with", "disease with or", "with or without", "or without cardiomyopathy", "without cardiomyopathy 2", "cardiac conduction disease with", "conduction disease with or", "disease with or without", "with or without cardiomyopathy", "or without cardiomyopathy 2", "cardiac conduction disease with or", "conduction disease with or without", "disease with or without cardiomyopathy", "with or without cardiomyopathy 2" ] }, { "record_id": "MONDO:0700389", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0700389", "record_type": "disease", "section": "proteins", "phraselist": [ "q9hbu9", "q9hbu9 1", "popd2_human", "np_001295262", "glycoprotein", "popdc2", "cccm2", "pop2" ] }, { "record_id": "MONDO:0700389", "record_type": "disease", "section": "proteins", "phraselist": [ "popeye", "domain", "containing", "protein", "popeye domain", "domain containing", "containing protein", "protein 2", "popeye domain containing", "domain containing protein", "containing protein 2", "popeye domain containing protein", "domain containing protein 2", "popeye domain containing protein 2", "popeye protein", "popeye protein 2", "containing 2", "domain containing 2", "popeye domain containing 2", "isoform", "2 isoform", "isoform 2", "protein 2 isoform", "2 isoform 2", "containing protein 2 isoform", "protein 2 isoform 2", "domain containing protein 2 isoform", "containing protein 2 isoform 2" ] }, { "record_id": "MONDO:0700392", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0700392", "0700392" ] }, { "record_id": "MONDO:0700392", "record_type": "disease", "section": "disease_name", "phraselist": [ "autoinflammation", "and", "autoimmunity", "with", "immune", "dysregulation", "autoinflammation and", "and autoimmunity", "autoimmunity with", "with immune", "immune dysregulation", "dysregulation 2", "autoinflammation and autoimmunity", "and autoimmunity with", "autoimmunity with immune", "with immune dysregulation", "immune dysregulation 2", "autoinflammation and autoimmunity with", "and autoimmunity with immune", "autoimmunity with immune dysregulation", "with immune dysregulation 2", "autoinflammation and autoimmunity with immune", "and autoimmunity with immune dysregulation", "autoimmunity with immune dysregulation 2" ] }, { "record_id": "MONDO:0700392", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0700392", "record_type": "disease", "section": "proteins", "phraselist": [ "p29728", "p29728 1", "oas2_human", "np_001027903", "glycoprotein", "oas2", "aiaisd2" ] }, { "record_id": "MONDO:0700392", "record_type": "disease", "section": "proteins", "phraselist": [ "2'", "5'", "oligoadenylate", "synthase", "2' 5'", "5' oligoadenylate", "oligoadenylate synthase", "synthase 2", "2' 5' oligoadenylate", "5' oligoadenylate synthase", "oligoadenylate synthase 2", "2' 5' oligoadenylate synthase", "5' oligoadenylate synthase 2", "2' 5' oligoadenylate synthase 2", "oligo", "synthetase", "5' oligo", "oligo a", "synthetase 2", "2' 5' oligo", "5' oligo a", "a synthetase", "2' 5' oligo a", "oligo a synthetase", "a synthetase 2", "5' oligo a synthetase", "oligo a synthetase 2", "2 5'", "2 5' oligo", "a synthase", "2 5' oligo a", "oligo a synthase", "a synthase 2", "5' oligo a synthase", "oligo a synthase 2", "isoform", "2 isoform", "isoform 3", "synthase 2 isoform", "2 isoform 3", "oligoadenylate synthase 2 isoform", "synthase 2 isoform 3", "5' oligoadenylate synthase 2 isoform", "oligoadenylate synthase 2 isoform 3", "69/71kda", "oligoadenylate synthetase", "5' oligoadenylate synthetase", "oligoadenylate synthetase 2", "2 69/71kda", "2' 5' oligoadenylate synthetase", "5' oligoadenylate synthetase 2", "synthetase 2 69/71kda", "2' 5' oligoadenylate synthetase 2", "oligoadenylate synthetase 2 69/71kda", "5a", "2 5a", "5a synthase", "2 5a synthase", "5a synthase 2", "2 5a synthase 2", "2.7.7.84", "p69", "oas", "p71", "p69 oas", "oas /", "/ p71", "p71 oas", "p69 oas /", "oas / p71", "/ p71 oas", "p69 oas / p71", "oas / p71 oas", "p69 oas / p71 oas", "p69oas", "p71oas", "p69oas /", "/ p71oas", "p69oas / p71oas" ] }, { "record_id": "MONDO:0800001", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0800001", "0800001", "mim:614163", "614163" ] }, { "record_id": "MONDO:0800001", "record_type": "disease", "section": "disease_name", "phraselist": [ "delayed", "sleep", "phase", "syndrome", "susceptibility", "to", "delayed sleep", "sleep phase", "phase syndrome", "susceptibility to", "delayed sleep phase", "sleep phase syndrome", "syndrome susceptibility", "delayed sleep phase syndrome", "phase syndrome susceptibility", "syndrome susceptibility to", "sleep phase syndrome susceptibility", "phase syndrome susceptibility to", "disorder", "phase disorder", "sleep phase disorder", "disorder susceptibility", "delayed sleep phase disorder", "phase disorder susceptibility", "disorder susceptibility to", "sleep phase disorder susceptibility", "phase disorder susceptibility to" ] }, { "record_id": "MONDO:0800001", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0800001", "record_type": "disease", "section": "proteins", "phraselist": [ "q16526", "q16526 1", "cry1_human", "np_004066", "cry1", "dspd", "phll1" ] }, { "record_id": "MONDO:0800001", "record_type": "disease", "section": "proteins", "phraselist": [ "cryptochrome", "cryptochrome 1", "photolyase", "like", "photolyase like", "1 photolyase", "cryptochrome 1 photolyase", "1 photolyase like", "cryptochrome 1 photolyase like", "circadian", "clock", "cryptochrome circadian", "circadian clock", "clock 1", "cryptochrome circadian clock", "circadian clock 1", "cryptochrome circadian clock 1", "isoform", "1 isoform", "isoform d", "cryptochrome 1 isoform", "1 isoform d", "cryptochrome 1 isoform d" ] }, { "record_id": "MONDO:0800028", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0800028", "0800028", "mim:606703", "606703" ] }, { "record_id": "MONDO:0800028", "record_type": "disease", "section": "disease_name", "phraselist": [ "dyskinesia", "with", "orofacial", "involvement", "autosomal", "dominant", "dyskinesia with", "with orofacial", "orofacial involvement", "autosomal dominant", "dyskinesia with orofacial", "with orofacial involvement", "involvement autosomal", "dyskinesia with orofacial involvement", "orofacial involvement autosomal", "involvement autosomal dominant", "with orofacial involvement autosomal", "orofacial involvement autosomal dominant", "fdfm", "familial", "facial", "myokymia", "with facial", "facial myokymia", "dyskinesia familial", "familial with", "with facial myokymia", "familial with facial", "dyskinesia familial with", "familial with facial myokymia", "adcy5", "related", "adcy5 related", "related dyskinesia", "adcy5 related dyskinesia" ] }, { "record_id": "MONDO:0800028", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0800028", "record_type": "disease", "section": "proteins", "phraselist": [ "o95622", "o95622 1", "adcy5_human", "np_001186571", "glycoprotein", "adcy5", "ac5", "dskod", "fdfm" ] }, { "record_id": "MONDO:0800028", "record_type": "disease", "section": "proteins", "phraselist": [ "adenylate", "cyclase", "type", "adenylate cyclase", "cyclase type", "type 5", "adenylate cyclase type", "cyclase type 5", "adenylate cyclase type 5", "4.6.1.1", "ac5", "atp", "pyrophosphate", "lyase", "atp pyrophosphate", "pyrophosphate lyase", "lyase 5", "atp pyrophosphate lyase", "pyrophosphate lyase 5", "atp pyrophosphate lyase 5", "type v", "cyclase type v", "adenylate cyclase type v", "adenylyl", "adenylyl cyclase", "cyclase 5", "adenylyl cyclase 5", "isoform", "5 isoform", "isoform 2", "type 5 isoform", "5 isoform 2", "cyclase type 5 isoform", "type 5 isoform 2", "adenylate cyclase type 5 isoform", "cyclase type 5 isoform 2", "epididymis", "secretory", "sperm", "binding", "protein", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein" ] }, { "record_id": "MONDO:0800043", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0800043", "0800043", "mim:601559", "601559" ] }, { "record_id": "MONDO:0800043", "record_type": "disease", "section": "disease_name", "phraselist": [ "stve", "wiedemann", "syndrome", "stve wiedemann", "wiedemann syndrome", "syndrome 1", "stve wiedemann syndrome", "wiedemann syndrome 1", "stve wiedemann syndrome 1", "stuve", "stuve wiedemann", "stuve wiedemann syndrome", "sws", "stws", "sjs2", "schwartz", "jampel", "neonatal", "schwartz jampel", "jampel syndrome", "syndrome neonatal", "schwartz jampel syndrome", "jampel syndrome neonatal", "schwartz jampel syndrome neonatal", "type", "syndrome type", "type 2", "jampel syndrome type", "syndrome type 2", "schwartz jampel syndrome type", "jampel syndrome type 2", "schwartz jampel syndrome type 2", "syndrome/schwartz", "wiedemann syndrome/schwartz", "syndrome/schwartz jampel", "jampel type", "2 syndrome", "stuve wiedemann syndrome/schwartz", "wiedemann syndrome/schwartz jampel", "syndrome/schwartz jampel type", "jampel type 2", "type 2 syndrome", "stuve wiedemann syndrome/schwartz jampel", "wiedemann syndrome/schwartz jampel type", "syndrome/schwartz jampel type 2", "jampel type 2 syndrome", "stuve wiedemann syndrome/schwartz jampel type", "wiedemann syndrome/schwartz jampel type 2", "syndrome/schwartz jampel type 2 syndrome", "dysplasia", "wiedemann dysplasia", "stve wiedemann dysplasia", "wiedemann/schwartz", "stve wiedemann/schwartz", "wiedemann/schwartz jampel", "stve wiedemann/schwartz jampel", "wiedemann/schwartz jampel type", "stve wiedemann/schwartz jampel type", "wiedemann/schwartz jampel type 2", "stve wiedemann/schwartz jampel type 2", "wiedemann/schwartz jampel type 2 syndrome", "neonatal schwartz", "neonatal schwartz jampel", "neonatal schwartz jampel syndrome", "neonatal schwartz jampel syndrome type", "stuve wiedemann syndrome 1" ] }, { "record_id": "MONDO:0800043", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0800043", "record_type": "disease", "section": "proteins", "phraselist": [ "p42702", "p42702 1", "lifr_human", "np_001121143", "glycoprotein", "lifr", "cd118", "lif", "lif r", "sjs2", "stws", "sws" ] }, { "record_id": "MONDO:0800043", "record_type": "disease", "section": "proteins", "phraselist": [ "leukemia", "inhibitory", "factor", "receptor", "leukemia inhibitory", "inhibitory factor", "factor receptor", "leukemia inhibitory factor", "inhibitory factor receptor", "leukemia inhibitory factor receptor", "cd118", "antigen", "cd118 antigen", "lif", "alpha", "lif receptor", "receptor alpha", "lif receptor alpha", "lif r", "factor receptor alpha", "inhibitory factor receptor alpha", "leukemia inhibitory factor receptor alpha", "isoform", "precursor", "receptor isoform", "isoform a", "a precursor", "factor receptor isoform", "receptor isoform a", "isoform a precursor", "inhibitory factor receptor isoform", "factor receptor isoform a", "receptor isoform a precursor", "leukemia inhibitory factor receptor isoform", "inhibitory factor receptor isoform a", "factor receptor isoform a precursor" ] }, { "record_id": "MONDO:0800046", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0800046", "0800046", "mim:609698", "609698" ] }, { "record_id": "MONDO:0800046", "record_type": "disease", "section": "disease_name", "phraselist": [ "thyroid", "hormone", "metabolism", "abnormal", "thyroid hormone", "hormone metabolism", "abnormal 1", "thyroid hormone metabolism", "metabolism abnormal", "hormone metabolism abnormal", "metabolism abnormal 1", "thyroid hormone metabolism abnormal", "hormone metabolism abnormal 1", "thma1", "short", "stature", "delayed", "bone", "age", "due", "to", "deficiency", "short stature", "stature delayed", "delayed bone", "bone age", "age due", "due to", "to thyroid", "metabolism deficiency", "short stature delayed", "stature delayed bone", "delayed bone age", "bone age due", "age due to", "due to thyroid", "to thyroid hormone", "hormone metabolism deficiency", "short stature delayed bone", "stature delayed bone age", "delayed bone age due", "bone age due to", "age due to thyroid", "due to thyroid hormone", "to thyroid hormone metabolism", "thyroid hormone metabolism deficiency", "short stature delayed bone age", "stature delayed bone age due", "delayed bone age due to", "bone age due to thyroid", "age due to thyroid hormone", "due to thyroid hormone metabolism", "to thyroid hormone metabolism deficiency" ] }, { "record_id": "MONDO:0800046", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0800046", "record_type": "disease", "section": "proteins", "phraselist": [ "q96t21", "q96t21 1", "sebp2_human", "np_001269617", "glycoprotein", "secisbp2", "sbp2", "thma1" ] }, { "record_id": "MONDO:0800046", "record_type": "disease", "section": "proteins", "phraselist": [ "selenocysteine", "insertion", "sequence", "binding", "protein", "selenocysteine insertion", "insertion sequence", "sequence binding", "binding protein", "protein 2", "selenocysteine insertion sequence", "insertion sequence binding", "sequence binding protein", "binding protein 2", "selenocysteine insertion sequence binding", "insertion sequence binding protein", "sequence binding protein 2", "selenocysteine insertion sequence binding protein", "insertion sequence binding protein 2", "secis", "secis binding", "secis binding protein", "secis binding protein 2", "sec", "sec insertion", "sec insertion sequence", "sec insertion sequence binding", "sec insertion sequence binding protein", "isoform", "2 isoform", "isoform 2", "protein 2 isoform", "2 isoform 2", "binding protein 2 isoform", "protein 2 isoform 2", "sequence binding protein 2 isoform", "binding protein 2 isoform 2" ] }, { "record_id": "MONDO:0800129", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0800129", "0800129", "mim:301081", "301081" ] }, { "record_id": "MONDO:0800129", "record_type": "disease", "section": "disease_name", "phraselist": [ "autoinflammatory", "disease", "linked", "autoinflammatory disease", "x linked", "disease x", "autoinflammatory disease x", "disease x linked", "autoinflammatory disease x linked", "nemo", "deleted", "exon", "syndrome", "nemo deleted", "deleted exon", "exon 5", "5 syndrome", "nemo deleted exon", "deleted exon 5", "exon 5 syndrome", "nemo deleted exon 5", "deleted exon 5 syndrome", "nemo deleted exon 5 syndrome", "autoinflammatory syndrome", "syndrome x", "autoinflammatory syndrome x", "syndrome x linked", "autoinflammatory syndrome x linked", "systemic", "disease systemic", "systemic x", "autoinflammatory disease systemic", "systemic x linked", "disease systemic x" ] }, { "record_id": "MONDO:0800129", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0800129", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y6k9", "q9y6k9 1", "nemo_human", "np_001308326", "glycoprotein", "ikbkg", "amcbx1", "edaid1", "fip", "fip 3", "fip3", "fip3p", "ikk", "gamma", "ikk gamma", "ikkap1", "ikkg", "imd33", "ip1", "ip2", "ipd2", "ip", "nemo", "saidx", "zc2hc9" ] }, { "record_id": "MONDO:0800129", "record_type": "disease", "section": "proteins", "phraselist": [ "nf", "kappa", "essential", "modulator", "nf kappa", "kappa b", "b essential", "essential modulator", "nf kappa b", "kappa b essential", "b essential modulator", "nf kappa b essential", "kappa b essential modulator", "nf kappa b essential modulator", "14.7k", "adenovirus", "e3", "protein", "interacting", "adenovirus e3", "e3 protein", "interacting protein", "protein 3", "14.7k adenovirus", "adenovirus e3 protein", "protein interacting", "interacting protein 3", "14.7k adenovirus e3", "e3 protein interacting", "protein interacting protein", "14.7k adenovirus e3 protein", "adenovirus e3 protein interacting", "e3 protein interacting protein", "protein interacting protein 3", "fip", "fip 3", "kinase", "subunit", "gamma", "i kappa", "b kinase", "kinase subunit", "subunit gamma", "i kappa b", "kappa b kinase", "b kinase subunit", "kinase subunit gamma", "i kappa b kinase", "kappa b kinase subunit", "b kinase subunit gamma", "i kappa b kinase subunit", "kappa b kinase subunit gamma", "ikk", "ikk gamma", "ikkap1", "ikkg", "ikb", "ikb kinase", "ikb kinase subunit", "ikb kinase subunit gamma", "associated", "kinase associated", "associated protein", "protein 1", "ikb kinase associated", "kinase associated protein", "associated protein 1", "ikb kinase associated protein", "kinase associated protein 1", "ikb kinase associated protein 1", "inhibitor", "of", "nuclear", "factor", "inhibitor of", "of nuclear", "nuclear factor", "factor kappa", "inhibitor of nuclear", "of nuclear factor", "nuclear factor kappa", "factor kappa b", "inhibitor of nuclear factor", "of nuclear factor kappa", "nuclear factor kappa b", "factor kappa b kinase", "inhibitor of nuclear factor kappa", "of nuclear factor kappa b", "nuclear factor kappa b kinase", "factor kappa b kinase subunit", "nemo", "modifier", "essential modifier", "b essential modifier", "kappa b essential modifier", "nf kappa b essential modifier", "isoform", "modulator isoform", "isoform d", "essential modulator isoform", "modulator isoform d", "b essential modulator isoform", "essential modulator isoform d", "kappa b essential modulator isoform", "b essential modulator isoform d", "incontinentia", "pigmenti", "incontinentia pigmenti", "light", "polypeptide", "gene", "enhancer", "in", "cells", "of kappa", "kappa light", "light polypeptide", "polypeptide gene", "gene enhancer", "enhancer in", "in b", "b cells", "kinase gamma", "inhibitor of kappa", "of kappa light", "kappa light polypeptide", "light polypeptide gene", "polypeptide gene enhancer", "gene enhancer in", "enhancer in b", "in b cells", "cells kinase", "inhibitor of kappa light", "of kappa light polypeptide", "kappa light polypeptide gene", "light polypeptide gene enhancer", "polypeptide gene enhancer in", "gene enhancer in b", "enhancer in b cells", "b cells kinase", "cells kinase gamma", "inhibitor of kappa light polypeptide", "of kappa light polypeptide gene", "kappa light polypeptide gene enhancer", "light polypeptide gene enhancer in", "polypeptide gene enhancer in b", "gene enhancer in b cells", "in b cells kinase", "b cells kinase gamma" ] }, { "record_id": "MONDO:0800130", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0800130", "0800130", "mim:619375", "619375" ] }, { "record_id": "MONDO:0800130", "record_type": "disease", "section": "disease_name", "phraselist": [ "autoinflammatory", "syndrome", "with", "immunodeficiency", "autoinflammatory syndrome", "syndrome with", "with immunodeficiency", "autoinflammatory syndrome with", "syndrome with immunodeficiency", "autoinflammatory syndrome with immunodeficiency", "familial", "or", "without", "with or", "or without", "without immunodeficiency", "syndrome familial", "familial with", "with or without", "or without immunodeficiency", "autoinflammatory syndrome familial", "familial with or", "with or without immunodeficiency", "syndrome familial with", "familial with or without" ] }, { "record_id": "MONDO:0800130", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0800130", "record_type": "disease", "section": "proteins", "phraselist": [ "o15524", "o15524 1", "socs1_human", "np_003736", "socs1", "aisimd", "cis1", "cish1", "jab", "socs", "socs 1", "ssi", "ssi 1", "ssi1", "tip", "tip 3", "tip3" ] }, { "record_id": "MONDO:0800130", "record_type": "disease", "section": "proteins", "phraselist": [ "suppressor", "of", "cytokine", "signaling", "suppressor of", "of cytokine", "cytokine signaling", "signaling 1", "suppressor of cytokine", "of cytokine signaling", "cytokine signaling 1", "suppressor of cytokine signaling", "of cytokine signaling 1", "suppressor of cytokine signaling 1", "jab", "jak", "binding", "protein", "jak binding", "binding protein", "jak binding protein", "socs", "socs 1", "ssi", "ssi 1", "stat", "induced", "sh3", "stat induced", "induced sh3", "sh3 protein", "protein 1", "stat induced sh3", "induced sh3 protein", "sh3 protein 1", "stat induced sh3 protein", "induced sh3 protein 1", "stat induced sh3 protein 1", "inhibitor", "induced stat", "stat inhibitor", "inhibitor 1", "stat induced stat", "induced stat inhibitor", "stat inhibitor 1", "stat induced stat inhibitor", "induced stat inhibitor 1", "stat induced stat inhibitor 1", "tip", "tip 3", "tec", "interacting", "tec interacting", "interacting protein", "protein 3", "tec interacting protein", "interacting protein 3", "tec interacting protein 3", "inducible", "sh2", "cytokine inducible", "inducible sh2", "sh2 protein", "cytokine inducible sh2", "inducible sh2 protein", "sh2 protein 1", "cytokine inducible sh2 protein", "inducible sh2 protein 1", "cytokine inducible sh2 protein 1" ] }, { "record_id": "MONDO:0800131", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0800131", "0800131", "mim:619752", "619752" ] }, { "record_id": "MONDO:0800131", "record_type": "disease", "section": "disease_name", "phraselist": [ "hyper", "ige", "recurrent", "infection", "syndrome", "4a", "autosomal", "dominant", "hyper ige", "ige recurrent", "recurrent infection", "infection syndrome", "syndrome 4a", "autosomal dominant", "hyper ige recurrent", "ige recurrent infection", "recurrent infection syndrome", "infection syndrome 4a", "4a autosomal", "hyper ige recurrent infection", "ige recurrent infection syndrome", "recurrent infection syndrome 4a", "syndrome 4a autosomal", "4a autosomal dominant", "hyper ige recurrent infection syndrome", "ige recurrent infection syndrome 4a", "infection syndrome 4a autosomal", "syndrome 4a autosomal dominant", "with", "infections", "ige syndrome", "with recurrent", "recurrent infections", "hyper ige syndrome", "ige syndrome 4a", "dominant with", "with recurrent infections", "hyper ige syndrome 4a", "autosomal dominant with", "dominant with recurrent", "ige syndrome 4a autosomal", "autosomal dominant with recurrent", "dominant with recurrent infections" ] }, { "record_id": "MONDO:0800131", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0800131", "record_type": "disease", "section": "proteins", "phraselist": [ "p40189", "p40189 1", "il6rb_human", "np_001177910", "glycoprotein", "il6st", "cd130", "cdw130", "gp130", "hies4a", "hies4b", "hies4", "il", "6rb", "il 6rb", "imd94", "stws2", "sgp130" ] }, { "record_id": "MONDO:0800131", "record_type": "disease", "section": "proteins", "phraselist": [ "interleukin", "receptor", "subunit", "beta", "interleukin 6", "6 receptor", "receptor subunit", "subunit beta", "interleukin 6 receptor", "6 receptor subunit", "receptor subunit beta", "interleukin 6 receptor subunit", "6 receptor subunit beta", "interleukin 6 receptor subunit beta", "cd130", "antigen", "cd130 antigen", "cdw130", "il", "il 6", "il 6 receptor", "il 6 receptor subunit", "il 6 receptor subunit beta", "6r", "il 6r", "6r subunit", "il 6r subunit", "6r subunit beta", "il 6r subunit beta", "6r beta", "il 6r beta", "6rb", "il 6rb", "signal", "transducer", "6 signal", "signal transducer", "interleukin 6 signal", "6 signal transducer", "interleukin 6 signal transducer", "membrane", "glycoprotein", "130", "membrane glycoprotein", "glycoprotein 130", "membrane glycoprotein 130", "oncostatin", "alpha", "oncostatin m", "m receptor", "subunit alpha", "oncostatin m receptor", "m receptor subunit", "receptor subunit alpha", "oncostatin m receptor subunit", "m receptor subunit alpha", "oncostatin m receptor subunit alpha", "gp130", "of", "the", "rheumatoid", "arthritis", "antigenic", "peptide", "bearing", "soluble", "form", "gp130 of", "of the", "the rheumatoid", "rheumatoid arthritis", "arthritis antigenic", "antigenic peptide", "peptide bearing", "bearing soluble", "soluble form", "gp130 of the", "of the rheumatoid", "the rheumatoid arthritis", "rheumatoid arthritis antigenic", "arthritis antigenic peptide", "antigenic peptide bearing", "peptide bearing soluble", "bearing soluble form", "gp130 of the rheumatoid", "of the rheumatoid arthritis", "the rheumatoid arthritis antigenic", "rheumatoid arthritis antigenic peptide", "arthritis antigenic peptide bearing", "antigenic peptide bearing soluble", "peptide bearing soluble form", "gp130 of the rheumatoid arthritis", "of the rheumatoid arthritis antigenic", "the rheumatoid arthritis antigenic peptide", "rheumatoid arthritis antigenic peptide bearing", "arthritis antigenic peptide bearing soluble", "antigenic peptide bearing soluble form", "gp130 oncostatin", "gp130 oncostatin m", "gp130 oncostatin m receptor", "chain", "interleukin receptor", "receptor beta", "beta chain", "interleukin receptor beta", "receptor beta chain", "interleukin receptor beta chain", "isoform", "precursor", "beta isoform", "isoform 3", "3 precursor", "subunit beta isoform", "beta isoform 3", "isoform 3 precursor", "receptor subunit beta isoform", "subunit beta isoform 3", "beta isoform 3 precursor", "6 receptor subunit beta isoform", "receptor subunit beta isoform 3", "subunit beta isoform 3 precursor", "glycoprotein gp130", "membrane glycoprotein gp130" ] }, { "record_id": "MONDO:0800132", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0800132", "0800132", "mim:619858", "619858" ] }, { "record_id": "MONDO:0800132", "record_type": "disease", "section": "disease_name", "phraselist": [ "autoinflammatory", "pancytopenia", "syndrome", "due", "to", "dnase2", "deficiency", "autoinflammatory pancytopenia", "pancytopenia syndrome", "syndrome due", "due to", "to dnase2", "dnase2 deficiency", "autoinflammatory pancytopenia syndrome", "pancytopenia syndrome due", "syndrome due to", "due to dnase2", "to dnase2 deficiency", "autoinflammatory pancytopenia syndrome due", "pancytopenia syndrome due to", "syndrome due to dnase2", "due to dnase2 deficiency", "autoinflammatory pancytopenia syndrome due to", "pancytopenia syndrome due to dnase2", "syndrome due to dnase2 deficiency" ] }, { "record_id": "MONDO:0800132", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0800132", "record_type": "disease", "section": "proteins", "phraselist": [ "o00115", "o00115 1", "dns2a_human", "np_001366", "glycoprotein", "dnase2", "aipcs", "dnase2a", "dnl2", "dnl" ] }, { "record_id": "MONDO:0800132", "record_type": "disease", "section": "proteins", "phraselist": [ "deoxyribonuclease", "alpha", "deoxyribonuclease 2", "2 alpha", "deoxyribonuclease 2 alpha", "3.1.22.1", "acid", "dnase", "acid dnase", "ii", "dnase ii", "ii alpha", "dnase ii alpha", "lysosomal", "ii lysosomal", "dnase ii lysosomal", "deoxyribonuclease ii", "deoxyribonuclease ii alpha", "lysosomal dnase", "lysosomal dnase ii", "r31240_2", "deoxyribonuclease ii lysosomal", "precursor", "alpha precursor", "2 alpha precursor", "deoxyribonuclease 2 alpha precursor" ] }, { "record_id": "MONDO:0800167", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0800167", "0800167", "mim:267750", "267750" ] }, { "record_id": "MONDO:0800167", "record_type": "disease", "section": "disease_name", "phraselist": [ "knobloch", "syndrome", "knobloch syndrome", "syndrome 1", "knobloch syndrome 1", "kno1", "type", "syndrome type", "type 1", "knobloch syndrome type", "syndrome type 1", "knobloch syndrome type 1", "layer", "knobloch layer", "layer syndrome", "knobloch layer syndrome", "retinal", "detachment", "occipital", "encephalocele", "retinal detachment", "detachment occipital", "occipital encephalocele", "encephalocele syndrome", "retinal detachment occipital", "detachment occipital encephalocele", "occipital encephalocele syndrome", "retinal detachment occipital encephalocele", "detachment occipital encephalocele syndrome", "retinal detachment occipital encephalocele syndrome", "myopia", "myopia retinal", "detachment encephalocele", "myopia retinal detachment", "retinal detachment encephalocele", "myopia retinal detachment encephalocele" ] }, { "record_id": "MONDO:0800167", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0800167", "record_type": "disease", "section": "proteins", "phraselist": [ "p39060", "p39060 3", "coia1_human", "glycoprotein", "col18a1" ] }, { "record_id": "MONDO:0800167", "record_type": "disease", "section": "proteins", "phraselist": [ "collagen", "alpha", "xviii", "chain", "collagen alpha", "alpha 1", "1 xviii", "collagen alpha 1", "alpha 1 xviii", "xviii chain", "collagen alpha 1 xviii", "1 xviii chain", "alpha 1 xviii chain" ] }, { "record_id": "MONDO:0800187", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0800187", "0800187", "mim:613002", "613002" ] }, { "record_id": "MONDO:0800187", "record_type": "disease", "section": "disease_name", "phraselist": [ "immunodeficiency", "83", "susceptibility", "to", "viral", "infections", "immunodeficiency 83", "susceptibility to", "to viral", "viral infections", "83 susceptibility", "susceptibility to viral", "to viral infections", "immunodeficiency 83 susceptibility", "83 susceptibility to", "susceptibility to viral infections", "immunodeficiency 83 susceptibility to", "83 susceptibility to viral", "imd83" ] }, { "record_id": "MONDO:0800187", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0800187", "record_type": "disease", "section": "proteins", "phraselist": [ "o15455", "o15455 1", "tlr3_human", "np_003256", "glycoprotein", "tlr3", "cd283", "iiae2", "imd83" ] }, { "record_id": "MONDO:0800187", "record_type": "disease", "section": "proteins", "phraselist": [ "toll", "like", "receptor", "toll like", "like receptor", "receptor 3", "toll like receptor", "like receptor 3", "toll like receptor 3", "precursor", "3 precursor", "receptor 3 precursor", "like receptor 3 precursor", "toll like receptor 3 precursor" ] }, { "record_id": "MONDO:0800358", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0800358", "0800358" ] }, { "record_id": "MONDO:0800358", "record_type": "disease", "section": "disease_name", "phraselist": [ "schizophrenia", "17", "schizophrenia 17", "sczd17" ] }, { "record_id": "MONDO:0800358", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0800358", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ulb1", "q9ulb1 1", "nrx1a_human", "np_001317011", "glycoprotein", "nrxn1", "hs.22998", "kiaa0578", "pthsl2", "sczd17" ] }, { "record_id": "MONDO:0800358", "record_type": "disease", "section": "proteins", "phraselist": [ "neurexin", "neurexin 1", "alpha", "neurexin i", "i alpha", "neurexin i alpha", "1 alpha", "neurexin 1 alpha", "isoform", "alpha5", "precursor", "1 isoform", "isoform alpha5", "alpha5 precursor", "neurexin 1 isoform", "1 isoform alpha5", "isoform alpha5 precursor", "neurexin 1 isoform alpha5", "1 isoform alpha5 precursor", "neurexin 1 isoform alpha5 precursor" ] }, { "record_id": "MONDO:0800447", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0800447", "0800447", "mim:614009", "614009" ] }, { "record_id": "MONDO:0800447", "record_type": "disease", "section": "disease_name", "phraselist": [ "bleeding", "disorder", "platelet", "type", "13", "susceptibility", "to", "bleeding disorder", "platelet type", "susceptibility to", "disorder platelet", "type 13", "13 susceptibility", "bleeding disorder platelet", "disorder platelet type", "platelet type 13", "13 susceptibility to", "bleeding disorder platelet type", "type 13 susceptibility", "bdplt13", "due", "defective", "thromboxane", "a2", "receptor", "due to", "to defective", "defective platelet", "platelet thromboxane", "thromboxane a2", "a2 receptor", "disorder susceptibility", "to due", "due to defective", "to defective platelet", "defective platelet thromboxane", "platelet thromboxane a2", "thromboxane a2 receptor", "bleeding disorder susceptibility", "disorder susceptibility to", "susceptibility to due", "to due to", "due to defective platelet", "to defective platelet thromboxane", "defective platelet thromboxane a2", "platelet thromboxane a2 receptor", "bleeding disorder susceptibility to", "susceptibility to due to", "to due to defective", "due to defective platelet thromboxane", "to defective platelet thromboxane a2", "defective platelet thromboxane a2 receptor", "to platelet", "type bleeding", "disorder 13", "susceptibility to platelet", "to platelet type", "platelet type bleeding", "type bleeding disorder", "bleeding disorder 13", "susceptibility to platelet type", "to platelet type bleeding", "platelet type bleeding disorder", "type bleeding disorder 13", "susceptibility to platelet type bleeding", "to platelet type bleeding disorder", "platelet type bleeding disorder 13" ] }, { "record_id": "MONDO:0800447", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0800447", "record_type": "disease", "section": "proteins", "phraselist": [ "p21731", "p21731 3", "ta2r_human", "np_001051", "glycoprotein", "tbxa2r", "bdplt13", "txa2", "txa2 r" ] }, { "record_id": "MONDO:0800447", "record_type": "disease", "section": "proteins", "phraselist": [ "thromboxane", "a2", "receptor", "thromboxane a2", "a2 receptor", "thromboxane a2 receptor", "prostanoid", "tp", "prostanoid tp", "tp receptor", "prostanoid tp receptor", "txa2", "txa2 r", "isoform", "alpha", "receptor isoform", "isoform alpha", "a2 receptor isoform", "receptor isoform alpha", "thromboxane a2 receptor isoform", "a2 receptor isoform alpha", "thromboxane a2 receptor isoform alpha" ] }, { "record_id": "MONDO:0800455", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0800455", "0800455", "mim:620459", "620459" ] }, { "record_id": "MONDO:0800455", "record_type": "disease", "section": "disease_name", "phraselist": [ "birt", "hogg", "dube", "syndrome", "birt hogg", "hogg dube", "dube syndrome", "syndrome 2", "birt hogg dube", "hogg dube syndrome", "dube syndrome 2", "birt hogg dube syndrome", "hogg dube syndrome 2", "birt hogg dube syndrome 2", "bhd2" ] }, { "record_id": "MONDO:0800455", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0800455", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nqv6", "q9nqv6 3", "prd10_human", "np_064613", "glycoprotein", "prdm10", "bhd2", "kiaa1231", "pfm7", "tris" ] }, { "record_id": "MONDO:0800455", "record_type": "disease", "section": "proteins", "phraselist": [ "pr", "domain", "zinc", "finger", "protein", "10", "pr domain", "domain zinc", "zinc finger", "finger protein", "protein 10", "pr domain zinc", "domain zinc finger", "zinc finger protein", "finger protein 10", "pr domain zinc finger", "domain zinc finger protein", "zinc finger protein 10", "pr domain zinc finger protein", "domain zinc finger protein 10", "domain 10", "pr domain 10", "containing", "domain containing", "containing 10", "pr domain containing", "domain containing 10", "pr domain containing 10", "isoform", "10 isoform", "isoform 1", "protein 10 isoform", "10 isoform 1", "finger protein 10 isoform", "protein 10 isoform 1", "zinc finger protein 10 isoform", "finger protein 10 isoform 1", "containing protein", "domain containing protein", "containing protein 10", "pr domain containing protein", "domain containing protein 10", "pr domain containing protein 10", "family", "member", "domain family", "family member", "member 7", "pr domain family", "domain family member", "family member 7", "pr domain family member", "domain family member 7", "pr domain family member 7", "prdm", "transcription", "factor", "prdm zinc", "finger transcription", "transcription factor", "prdm zinc finger", "zinc finger transcription", "finger transcription factor", "prdm zinc finger transcription", "zinc finger transcription factor", "prdm zinc finger transcription factor", "tristanin" ] }, { "record_id": "MONDO:0859046", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859046", "0859046", "mim:180295", "180295" ] }, { "record_id": "MONDO:0859046", "record_type": "disease", "section": "disease_name", "phraselist": [ "rhabdomyosarcoma", "embryonal", "rhabdomyosarcoma embryonal", "embryonal 2", "rhabdomyosarcoma embryonal 2" ] }, { "record_id": "MONDO:0859046", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859046", "record_type": "disease", "section": "proteins", "phraselist": [ "q9upy3", "q9upy3 1", "dicer_human", "np_001182502", "glycoprotein", "dicer1", "dcr1", "dicer", "dicer1e", "glow", "herna", "k12h4.8", "like", "k12h4.8 like", "kiaa0928", "mng1", "rmse2", "avid" ] }, { "record_id": "MONDO:0859046", "record_type": "disease", "section": "proteins", "phraselist": [ "endoribonuclease", "dicer", "endoribonuclease dicer", "3.1.26.3", "dicer1", "dcr", "homolog", "dcr 1", "1 homolog", "dicer1 dcr", "dcr 1 homolog", "dicer1 dcr 1", "dicer1 dcr 1 homolog", "helicase", "moi", "helicase moi", "with", "rnase", "motif", "helicase with", "with rnase", "rnase motif", "helicase with rnase", "with rnase motif", "helicase with rnase motif", "double", "stranded", "rna", "specific", "dicer 1", "double stranded", "stranded rna", "rna specific", "specific endoribonuclease", "1 double", "double stranded rna", "stranded rna specific", "rna specific endoribonuclease", "dicer 1 double", "1 double stranded", "double stranded rna specific", "stranded rna specific endoribonuclease", "dicer 1 double stranded", "1 double stranded rna", "double stranded rna specific endoribonuclease", "ribonuclease", "type", "iii", "ribonuclease type", "type iii", "1 ribonuclease", "ribonuclease type iii", "dicer 1 ribonuclease", "1 ribonuclease type", "dicer 1 ribonuclease type", "1 ribonuclease type iii", "isoform", "dicer isoform", "isoform 2", "endoribonuclease dicer isoform", "dicer isoform 2", "endoribonuclease dicer isoform 2" ] }, { "record_id": "MONDO:0859080", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859080", "0859080", "mim:301066", "301066" ] }, { "record_id": "MONDO:0859080", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "linked", "syndromic", "with", "pigmentary", "mosaicism", "and", "coarse", "facies", "intellectual developmental", "developmental disorder", "x linked", "with pigmentary", "pigmentary mosaicism", "mosaicism and", "and coarse", "coarse facies", "intellectual developmental disorder", "disorder x", "linked syndromic", "syndromic with", "with pigmentary mosaicism", "pigmentary mosaicism and", "mosaicism and coarse", "and coarse facies", "developmental disorder x", "disorder x linked", "x linked syndromic", "syndromic with pigmentary", "with pigmentary mosaicism and", "pigmentary mosaicism and coarse", "mosaicism and coarse facies", "intellectual developmental disorder x", "developmental disorder x linked", "linked syndromic with", "syndromic with pigmentary mosaicism", "with pigmentary mosaicism and coarse", "pigmentary mosaicism and coarse facies" ] }, { "record_id": "MONDO:0859080", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859080", "record_type": "disease", "section": "proteins", "phraselist": [ "p19532", "p19532 1", "tfe3_human", "np_001269071", "glycoprotein", "tfe3", "bhlhe33", "mrxspf", "rccp2", "rccx1", "tfea" ] }, { "record_id": "MONDO:0859080", "record_type": "disease", "section": "proteins", "phraselist": [ "transcription", "factor", "e3", "transcription factor", "factor e3", "transcription factor e3", "class", "basic", "helix", "loop", "protein", "33", "class e", "e basic", "basic helix", "helix loop", "loop helix", "helix protein", "protein 33", "class e basic", "e basic helix", "basic helix loop", "helix loop helix", "loop helix protein", "helix protein 33", "class e basic helix", "e basic helix loop", "basic helix loop helix", "helix loop helix protein", "loop helix protein 33", "class e basic helix loop", "e basic helix loop helix", "basic helix loop helix protein", "helix loop helix protein 33", "bhlhe33", "family", "member", "factor e", "e family", "member a", "transcription factor e", "factor e family", "family member", "transcription factor e family", "e family member", "family member a", "factor e family member", "e family member a", "isoform", "e3 isoform", "isoform 2", "factor e3 isoform", "e3 isoform 2", "transcription factor e3 isoform", "factor e3 isoform 2", "transcription factor e3 isoform 2", "for", "igh", "enhancer", "factor for", "for igh", "igh enhancer", "transcription factor for", "factor for igh", "for igh enhancer", "transcription factor for igh", "factor for igh enhancer", "transcription factor for igh enhancer", "immunoglobulin", "heavy", "chain", "for immunoglobulin", "immunoglobulin heavy", "heavy chain", "chain enhancer", "enhancer 3", "factor for immunoglobulin", "for immunoglobulin heavy", "immunoglobulin heavy chain", "heavy chain enhancer", "chain enhancer 3", "transcription factor for immunoglobulin", "factor for immunoglobulin heavy", "for immunoglobulin heavy chain", "immunoglobulin heavy chain enhancer", "heavy chain enhancer 3", "transcription factor for immunoglobulin heavy", "factor for immunoglobulin heavy chain", "for immunoglobulin heavy chain enhancer", "immunoglobulin heavy chain enhancer 3" ] }, { "record_id": "MONDO:0859082", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859082", "0859082", "mim:301071", "301071" ] }, { "record_id": "MONDO:0859082", "record_type": "disease", "section": "disease_name", "phraselist": [ "thrombophilia", "linked", "due", "to", "factor", "defect", "x linked", "due to", "to factor", "factor 8", "8 defect", "thrombophilia x", "linked due", "due to factor", "to factor 8", "factor 8 defect", "thrombophilia x linked", "x linked due", "linked due to", "due to factor 8", "to factor 8 defect", "x linked due to", "linked due to factor", "due to factor 8 defect", "13", "viii", "thrombophilia 13", "factor viii", "viii defect", "13 x", "to factor viii", "factor viii defect", "thrombophilia 13 x", "13 x linked", "due to factor viii", "to factor viii defect", "thrombophilia 13 x linked", "due to factor viii defect" ] }, { "record_id": "MONDO:0859082", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859082", "record_type": "disease", "section": "proteins", "phraselist": [ "p00451", "p00451 1", "fa8_human", "np_000123", "glycoprotein", "f8", "ahf", "dxs1253e", "f8b", "f8c", "fviii", "hema", "thph13" ] }, { "record_id": "MONDO:0859082", "record_type": "disease", "section": "proteins", "phraselist": [ "coagulation", "factor", "viii", "coagulation factor", "factor viii", "coagulation factor viii", "ahf", "antihemophilic", "antihemophilic factor", "procoagulant", "component", "procoagulant component", "a1", "domain", "viii a1", "a1 domain", "factor viii a1", "viii a1 domain", "coagulation factor viii a1", "factor viii a1 domain", "coagulation factor viii a1 domain", "c2", "viii c2", "c2 domain", "factor viii c2", "viii c2 domain", "coagulation factor viii c2", "factor viii c2 domain", "coagulation factor viii c2 domain", "isoform", "preproprotein", "viii isoform", "isoform a", "a preproprotein", "factor viii isoform", "viii isoform a", "isoform a preproprotein", "coagulation factor viii isoform", "factor viii isoform a", "viii isoform a preproprotein", "coagulation factor viii isoform a", "factor viii isoform a preproprotein", "viii procoagulant", "factor viii procoagulant", "viii procoagulant component", "coagulation factor viii procoagulant", "factor viii procoagulant component", "viiic", "factor viiic", "coagulation factor viiic", "f8b", "viii f8b", "factor viii f8b" ] }, { "record_id": "MONDO:0859083", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859083", "0859083", "mim:301080", "301080" ] }, { "record_id": "MONDO:0859083", "record_type": "disease", "section": "disease_name", "phraselist": [ "systemic", "lupus", "erythematosus", "17", "systemic lupus", "lupus erythematosus", "erythematosus 17", "systemic lupus erythematosus", "lupus erythematosus 17", "systemic lupus erythematosus 17" ] }, { "record_id": "MONDO:0859083", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859083", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nyk1", "q9nyk1 1", "tlr7_human", "np_057646", "glycoprotein", "tlr7", "imd74", "pro285", "sleb17", "like", "tlr7 like" ] }, { "record_id": "MONDO:0859083", "record_type": "disease", "section": "proteins", "phraselist": [ "toll", "like", "receptor", "toll like", "like receptor", "receptor 7", "toll like receptor", "like receptor 7", "toll like receptor 7", "precursor", "7 precursor", "receptor 7 precursor", "like receptor 7 precursor", "toll like receptor 7 precursor", "7 like", "receptor 7 like", "like receptor 7 like", "toll like receptor 7 like" ] }, { "record_id": "MONDO:0859085", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859085", "0859085", "mim:301094", "301094" ] }, { "record_id": "MONDO:0859085", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "gait", "disturbance", "dysmorphic", "facies", "and", "behavioral", "abnormalities", "linked", "neurodevelopmental disorder", "disorder with", "with gait", "gait disturbance", "dysmorphic facies", "and behavioral", "behavioral abnormalities", "x linked", "neurodevelopmental disorder with", "disorder with gait", "with gait disturbance", "disturbance dysmorphic", "facies and", "and behavioral abnormalities", "abnormalities x", "neurodevelopmental disorder with gait", "disorder with gait disturbance", "gait disturbance dysmorphic", "disturbance dysmorphic facies", "dysmorphic facies and", "facies and behavioral", "behavioral abnormalities x", "abnormalities x linked", "neurodevelopmental disorder with gait disturbance", "with gait disturbance dysmorphic", "gait disturbance dysmorphic facies", "dysmorphic facies and behavioral", "facies and behavioral abnormalities", "and behavioral abnormalities x", "behavioral abnormalities x linked", "hijazi", "reis", "syndrome", "hijazi reis", "reis syndrome", "hijazi reis syndrome" ] }, { "record_id": "MONDO:0859085", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859085", "record_type": "disease", "section": "proteins", "phraselist": [ "q15170", "q15170 1", "tcal1_human", "np_001006640", "tceal1", "hijrs", "nedgfax", "siir", "wex9", "p21", "pp21" ] }, { "record_id": "MONDO:0859085", "record_type": "disease", "section": "proteins", "phraselist": [ "transcription", "elongation", "factor", "protein", "like", "transcription elongation", "elongation factor", "factor a", "a protein", "protein like", "like 1", "transcription elongation factor", "elongation factor a", "factor a protein", "a protein like", "protein like 1", "transcription elongation factor a", "elongation factor a protein", "factor a protein like", "a protein like 1", "transcription elongation factor a protein", "elongation factor a protein like", "factor a protein like 1", "nuclear", "phosphoprotein", "p21/siir", "nuclear phosphoprotein", "phosphoprotein p21/siir", "nuclear phosphoprotein p21/siir", "tcea", "tcea like", "like protein", "protein 1", "tcea like protein", "like protein 1", "tcea like protein 1", "ii", "factor s", "s ii", "ii protein", "elongation factor s", "factor s ii", "s ii protein", "ii protein like", "transcription elongation factor s", "elongation factor s ii", "factor s ii protein", "s ii protein like", "ii protein like 1", "transcription elongation factor s ii", "elongation factor s ii protein", "factor s ii protein like", "s ii protein like 1", "sii", "a sii", "sii like", "factor a sii", "sii like 1", "elongation factor a sii", "a sii like" ] }, { "record_id": "MONDO:0859086", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859086", "0859086", "mim:301095", "301095" ] }, { "record_id": "MONDO:0859086", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "linked", "110", "intellectual developmental", "developmental disorder", "x linked", "linked 110", "intellectual developmental disorder", "disorder x", "x linked 110", "developmental disorder x", "disorder x linked", "intellectual developmental disorder x", "developmental disorder x linked", "disorder x linked 110" ] }, { "record_id": "MONDO:0859086", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859086", "record_type": "disease", "section": "proteins", "phraselist": [ "q92913", "q92913 1", "fgf13_human", "np_001132970", "fgf13", "dee90", "fgf", "13", "fgf 13", "fgf2", "fhf", "fhf 2", "fhf2", "linc00889", "xlid110" ] }, { "record_id": "MONDO:0859086", "record_type": "disease", "section": "proteins", "phraselist": [ "fibroblast", "growth", "factor", "13", "fibroblast growth", "growth factor", "factor 13", "fibroblast growth factor", "growth factor 13", "fibroblast growth factor 13", "fgf", "fgf 13", "fhf", "fhf 2", "homologous", "factor homologous", "homologous factor", "factor 2", "growth factor homologous", "factor homologous factor", "homologous factor 2", "fibroblast growth factor homologous", "growth factor homologous factor", "factor homologous factor 2", "fibroblast growth factor homologous factor", "growth factor homologous factor 2", "isoform", "13 isoform", "isoform 4", "factor 13 isoform", "13 isoform 4", "growth factor 13 isoform", "factor 13 isoform 4", "fibroblast growth factor 13 isoform", "growth factor 13 isoform 4" ] }, { "record_id": "MONDO:0859136", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859136", "0859136", "mim:619268", "619268" ] }, { "record_id": "MONDO:0859136", "record_type": "disease", "section": "disease_name", "phraselist": [ "alzahrani", "kuwahara", "syndrome", "alzahrani kuwahara", "kuwahara syndrome", "alzahrani kuwahara syndrome" ] }, { "record_id": "MONDO:0859136", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859136", "record_type": "disease", "section": "proteins", "phraselist": [ "q8nd04", "q8nd04 1", "smg8_human", "np_060619", "glycoprotein", "smg8", "abc2", "alkus", "c17orf71" ] }, { "record_id": "MONDO:0859136", "record_type": "disease", "section": "proteins", "phraselist": [ "nonsense", "mediated", "mrna", "decay", "factor", "smg8", "nonsense mediated", "mediated mrna", "mrna decay", "decay factor", "factor smg8", "nonsense mediated mrna", "mediated mrna decay", "mrna decay factor", "decay factor smg8", "nonsense mediated mrna decay", "mediated mrna decay factor", "mrna decay factor smg8", "nonsense mediated mrna decay factor", "mediated mrna decay factor smg8", "amplified", "in", "breast", "cancer", "gene", "protein", "amplified in", "in breast", "breast cancer", "cancer gene", "gene 2", "2 protein", "amplified in breast", "in breast cancer", "breast cancer gene", "cancer gene 2", "gene 2 protein", "amplified in breast cancer", "in breast cancer gene", "breast cancer gene 2", "cancer gene 2 protein", "amplified in breast cancer gene", "in breast cancer gene 2", "breast cancer gene 2 protein", "smg", "homolog", "protein smg", "smg 8", "8 homolog", "protein smg 8", "smg 8 homolog", "protein smg 8 homolog", "protein smg8", "homolog nonsense", "8 homolog nonsense", "homolog nonsense mediated", "smg 8 homolog nonsense", "8 homolog nonsense mediated", "homolog nonsense mediated mrna" ] }, { "record_id": "MONDO:0859137", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859137", "0859137", "mim:619286", "619286" ] }, { "record_id": "MONDO:0859137", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "spasticity", "cataracts", "and", "cerebellar", "hypoplasia", "neurodevelopmental disorder", "disorder with", "with spasticity", "and cerebellar", "cerebellar hypoplasia", "neurodevelopmental disorder with", "disorder with spasticity", "spasticity cataracts", "cataracts and", "and cerebellar hypoplasia", "neurodevelopmental disorder with spasticity", "with spasticity cataracts", "cataracts and cerebellar", "disorder with spasticity cataracts", "spasticity cataracts and", "cataracts and cerebellar hypoplasia" ] }, { "record_id": "MONDO:0859137", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859137", "record_type": "disease", "section": "proteins", "phraselist": [ "q6p2c8", "q6p2c8 1", "med27_human", "np_001240810", "glycoprotein", "med27", "crap34", "crsp34", "crsp8", "med3", "nedscac", "trap37" ] }, { "record_id": "MONDO:0859137", "record_type": "disease", "section": "proteins", "phraselist": [ "mediator", "of", "rna", "polymerase", "ii", "transcription", "subunit", "27", "mediator of", "of rna", "rna polymerase", "polymerase ii", "ii transcription", "transcription subunit", "subunit 27", "mediator of rna", "of rna polymerase", "rna polymerase ii", "polymerase ii transcription", "ii transcription subunit", "transcription subunit 27", "mediator of rna polymerase", "of rna polymerase ii", "rna polymerase ii transcription", "polymerase ii transcription subunit", "ii transcription subunit 27", "mediator of rna polymerase ii", "of rna polymerase ii transcription", "rna polymerase ii transcription subunit", "polymerase ii transcription subunit 27", "crsp", "complex", "crsp complex", "complex subunit", "subunit 8", "crsp complex subunit", "complex subunit 8", "crsp complex subunit 8", "cofactor", "required", "for", "sp1", "transcriptional", "activation", "cofactor required", "required for", "for sp1", "sp1 transcriptional", "transcriptional activation", "activation subunit", "cofactor required for", "required for sp1", "for sp1 transcriptional", "sp1 transcriptional activation", "transcriptional activation subunit", "activation subunit 8", "cofactor required for sp1", "required for sp1 transcriptional", "for sp1 transcriptional activation", "sp1 transcriptional activation subunit", "transcriptional activation subunit 8", "cofactor required for sp1 transcriptional", "required for sp1 transcriptional activation", "for sp1 transcriptional activation subunit", "sp1 transcriptional activation subunit 8", "mediator complex", "mediator complex subunit", "complex subunit 27", "mediator complex subunit 27", "p37", "trap/smcc/pc2", "p37 trap/smcc/pc2", "trap/smcc/pc2 subunit", "p37 trap/smcc/pc2 subunit", "coactivator", "crsp34", "transcriptional coactivator", "coactivator crsp34", "transcriptional coactivator crsp34", "34kda", "8 34kda", "subunit 8 34kda", "epididymis", "secretory", "sperm", "binding", "protein", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "isoform", "27 isoform", "isoform 2", "subunit 27 isoform", "27 isoform 2", "transcription subunit 27 isoform", "subunit 27 isoform 2", "ii transcription subunit 27 isoform", "transcription subunit 27 isoform 2" ] }, { "record_id": "MONDO:0859141", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859141", "0859141", "mim:619306", "619306" ] }, { "record_id": "MONDO:0859141", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "dysmorphic", "facies", "and", "cerebellar", "hypoplasia", "neurodevelopmental disorder", "disorder with", "with dysmorphic", "dysmorphic facies", "facies and", "and cerebellar", "cerebellar hypoplasia", "neurodevelopmental disorder with", "disorder with dysmorphic", "with dysmorphic facies", "dysmorphic facies and", "facies and cerebellar", "and cerebellar hypoplasia", "neurodevelopmental disorder with dysmorphic", "disorder with dysmorphic facies", "with dysmorphic facies and", "dysmorphic facies and cerebellar", "facies and cerebellar hypoplasia", "neurodevelopmental disorder with dysmorphic facies", "disorder with dysmorphic facies and", "with dysmorphic facies and cerebellar", "dysmorphic facies and cerebellar hypoplasia" ] }, { "record_id": "MONDO:0859141", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859141", "record_type": "disease", "section": "proteins", "phraselist": [ "q96kp1", "q96kp1 1", "exoc2_human", "np_060773", "exoc2", "nedfach", "sec5l1", "sec5", "sec5p" ] }, { "record_id": "MONDO:0859141", "record_type": "disease", "section": "proteins", "phraselist": [ "exocyst", "complex", "component", "exocyst complex", "complex component", "component 2", "exocyst complex component", "complex component 2", "exocyst complex component 2", "sec5", "component sec5", "complex component sec5", "exocyst complex component sec5", "like", "sec5 like", "like 1", "sec5 like 1" ] }, { "record_id": "MONDO:0859142", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859142", "0859142", "mim:619311", "619311" ] }, { "record_id": "MONDO:0859142", "record_type": "disease", "section": "disease_name", "phraselist": [ "hiatt", "neu", "cooper", "neurodevelopmental", "syndrome", "hiatt neu", "neu cooper", "cooper neurodevelopmental", "neurodevelopmental syndrome", "hiatt neu cooper", "neu cooper neurodevelopmental", "cooper neurodevelopmental syndrome", "hiatt neu cooper neurodevelopmental", "neu cooper neurodevelopmental syndrome", "hiatt neu cooper neurodevelopmental syndrome" ] }, { "record_id": "MONDO:0859142", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859142", "record_type": "disease", "section": "proteins", "phraselist": [ "p11233", "p11233 1", "rala_human", "np_005393", "glycoprotein", "rala", "hincons", "ral" ] }, { "record_id": "MONDO:0859142", "record_type": "disease", "section": "proteins", "phraselist": [ "ras", "related", "protein", "ral", "ras related", "related protein", "protein ral", "ral a", "ras related protein", "related protein ral", "protein ral a", "ras related protein ral", "related protein ral a", "ras related protein ral a", "3.6.5.2", "rala", "like", "proto", "oncogene", "rala ras", "ras like", "like proto", "proto oncogene", "oncogene a", "rala ras like", "ras like proto", "like proto oncogene", "proto oncogene a", "rala ras like proto", "ras like proto oncogene", "like proto oncogene a", "rala ras like proto oncogene", "ras like proto oncogene a", "like protein", "protein a", "ras like protein", "like protein a", "ras like protein a", "family", "small", "gtp", "binding", "ras family", "family small", "small gtp", "gtp binding", "binding protein", "protein rala", "ras family small", "family small gtp", "small gtp binding", "gtp binding protein", "binding protein rala", "ras family small gtp", "family small gtp binding", "small gtp binding protein", "gtp binding protein rala", "ras family small gtp binding", "family small gtp binding protein", "small gtp binding protein rala", "related gtp", "ras related gtp", "related gtp binding", "binding protein a", "ras related gtp binding", "related gtp binding protein", "gtp binding protein a", "ras related gtp binding protein", "related gtp binding protein a", "precursor", "a precursor", "ral a precursor", "protein ral a precursor", "related protein ral a precursor", "simian", "leukemia", "viral", "homolog", "v ral", "ral simian", "simian leukemia", "leukemia viral", "viral oncogene", "oncogene homolog", "homolog a", "v ral simian", "ral simian leukemia", "simian leukemia viral", "leukemia viral oncogene", "viral oncogene homolog", "oncogene homolog a", "a ras", "v ral simian leukemia", "ral simian leukemia viral", "simian leukemia viral oncogene", "leukemia viral oncogene homolog", "viral oncogene homolog a", "homolog a ras", "a ras related", "v ral simian leukemia viral", "ral simian leukemia viral oncogene", "simian leukemia viral oncogene homolog", "leukemia viral oncogene homolog a", "oncogene homolog a ras", "homolog a ras related" ] }, { "record_id": "MONDO:0859143", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859143", "0859143", "mim:619312", "619312" ] }, { "record_id": "MONDO:0859143", "record_type": "disease", "section": "disease_name", "phraselist": [ "radio", "tartaglia", "syndrome", "radio tartaglia", "tartaglia syndrome", "radio tartaglia syndrome", "spen", "related", "neurodevelopmental", "disorder", "spen related", "related neurodevelopmental", "neurodevelopmental disorder", "spen related neurodevelopmental", "related neurodevelopmental disorder", "spen related neurodevelopmental disorder" ] }, { "record_id": "MONDO:0859143", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859143", "record_type": "disease", "section": "proteins", "phraselist": [ "q96t58", "q96t58 1", "mint_human", "np_055816", "glycoprotein", "spen", "hiaa0929", "kiaa0929", "mint", "ratars", "rbm15c", "sharp" ] }, { "record_id": "MONDO:0859143", "record_type": "disease", "section": "proteins", "phraselist": [ "msx2", "interacting", "protein", "msx2 interacting", "interacting protein", "msx2 interacting protein", "nuclear", "target", "mint", "homolog", "interacting nuclear", "nuclear target", "msx2 interacting nuclear", "interacting nuclear target", "target mint", "mint homolog", "msx2 interacting nuclear target", "nuclear target mint", "interacting nuclear target mint", "target mint homolog", "smart/hdac1", "associated", "repressor", "smart/hdac1 associated", "associated repressor", "repressor protein", "smart/hdac1 associated repressor", "associated repressor protein", "smart/hdac1 associated repressor protein", "spen", "spen homolog", "receptor", "transcription", "cofactor", "nuclear receptor", "receptor transcription", "transcription cofactor", "nuclear receptor transcription", "receptor transcription cofactor", "nuclear receptor transcription cofactor", "transcriptional", "regulator", "transcriptional regulator", "homolog transcriptional", "spen homolog transcriptional", "homolog transcriptional regulator", "spen homolog transcriptional regulator" ] }, { "record_id": "MONDO:0859144", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859144", "0859144", "mim:619314", "619314" ] }, { "record_id": "MONDO:0859144", "record_type": "disease", "section": "disease_name", "phraselist": [ "buratti", "harel", "syndrome", "buratti harel", "harel syndrome", "buratti harel syndrome" ] }, { "record_id": "MONDO:0859144", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859144", "record_type": "disease", "section": "proteins", "phraselist": [ "q8iuq4", "q8iuq4 1", "siah1_human", "np_001006611", "glycoprotein", "siah1", "burhas", "humsiah", "siah1a" ] }, { "record_id": "MONDO:0859144", "record_type": "disease", "section": "proteins", "phraselist": [ "e3", "ubiquitin", "protein", "ligase", "siah1", "e3 ubiquitin", "ubiquitin protein", "protein ligase", "ligase siah1", "e3 ubiquitin protein", "ubiquitin protein ligase", "protein ligase siah1", "e3 ubiquitin protein ligase", "ubiquitin protein ligase siah1", "e3 ubiquitin protein ligase siah1", "2.3.2.27", "isoform", "siah1 isoform", "isoform b", "ligase siah1 isoform", "siah1 isoform b", "protein ligase siah1 isoform", "ligase siah1 isoform b", "ubiquitin protein ligase siah1 isoform", "protein ligase siah1 isoform b", "ring", "type", "transferase", "ring type", "type e3", "ubiquitin transferase", "transferase siah1", "ring type e3", "type e3 ubiquitin", "e3 ubiquitin transferase", "ubiquitin transferase siah1", "ring type e3 ubiquitin", "type e3 ubiquitin transferase", "e3 ubiquitin transferase siah1", "ring type e3 ubiquitin transferase", "type e3 ubiquitin transferase siah1", "seven", "in", "absentia", "homolog", "seven in", "in absentia", "absentia homolog", "homolog 1", "seven in absentia", "in absentia homolog", "absentia homolog 1", "seven in absentia homolog", "in absentia homolog 1", "seven in absentia homolog 1", "siah", "1a", "siah 1a", "siah 1" ] }, { "record_id": "MONDO:0859146", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859146", "0859146", "mim:619321", "619321" ] }, { "record_id": "MONDO:0859146", "record_type": "disease", "section": "disease_name", "phraselist": [ "growth", "restriction", "hypoplastic", "kidneys", "alopecia", "and", "distinctive", "facies", "growth restriction", "hypoplastic kidneys", "and distinctive", "distinctive facies", "restriction hypoplastic", "kidneys alopecia", "alopecia and", "and distinctive facies", "growth restriction hypoplastic", "restriction hypoplastic kidneys", "hypoplastic kidneys alopecia", "alopecia and distinctive", "growth restriction hypoplastic kidneys", "kidneys alopecia and", "alopecia and distinctive facies" ] }, { "record_id": "MONDO:0859146", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859146", "record_type": "disease", "section": "proteins", "phraselist": [ "o75312", "o75312 1", "zpr1_human", "np_001304015", "glycoprotein", "zpr1", "gkaf", "znf259" ] }, { "record_id": "MONDO:0859146", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "protein", "zpr1", "zinc finger", "finger protein", "protein zpr1", "zinc finger protein", "finger protein zpr1", "zinc finger protein zpr1", "259", "protein 259", "finger protein 259", "zinc finger protein 259", "isoform", "zpr1 isoform", "isoform 2", "protein zpr1 isoform", "zpr1 isoform 2", "finger protein zpr1 isoform", "protein zpr1 isoform 2", "zinc finger protein zpr1 isoform", "finger protein zpr1 isoform 2" ] }, { "record_id": "MONDO:0859147", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859147", "0859147", "mim:619322", "619322" ] }, { "record_id": "MONDO:0859147", "record_type": "disease", "section": "disease_name", "phraselist": [ "marbach", "rustad", "progeroid", "syndrome", "marbach rustad", "rustad progeroid", "progeroid syndrome", "marbach rustad progeroid", "rustad progeroid syndrome", "marbach rustad progeroid syndrome", "lemd2", "associated", "nuclear", "envelopathy", "with", "early", "appearance", "lemd2 associated", "associated nuclear", "nuclear envelopathy", "envelopathy with", "with early", "early progeroid", "progeroid appearance", "lemd2 associated nuclear", "associated nuclear envelopathy", "nuclear envelopathy with", "envelopathy with early", "with early progeroid", "early progeroid appearance", "lemd2 associated nuclear envelopathy", "associated nuclear envelopathy with", "nuclear envelopathy with early", "envelopathy with early progeroid", "with early progeroid appearance", "lemd2 associated nuclear envelopathy with", "associated nuclear envelopathy with early", "nuclear envelopathy with early progeroid", "envelopathy with early progeroid appearance", "wormian", "bones", "micrognathia", "abnormal", "dentition", "wormian bones", "bones micrognathia", "micrognathia abnormal", "abnormal dentition", "dentition progeroid", "wormian bones micrognathia", "bones micrognathia abnormal", "micrognathia abnormal dentition", "abnormal dentition progeroid", "dentition progeroid syndrome", "wormian bones micrognathia abnormal", "bones micrognathia abnormal dentition", "micrognathia abnormal dentition progeroid", "abnormal dentition progeroid syndrome", "wormian bones micrognathia abnormal dentition", "bones micrognathia abnormal dentition progeroid", "micrognathia abnormal dentition progeroid syndrome" ] }, { "record_id": "MONDO:0859147", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859147", "record_type": "disease", "section": "proteins", "phraselist": [ "q8nc56", "q8nc56 1", "lemd2_human", "np_001137416", "glycoprotein", "lemd2", "ctrct42", "lem2", "marups", "net25", "dj482c21.1" ] }, { "record_id": "MONDO:0859147", "record_type": "disease", "section": "proteins", "phraselist": [ "lem", "domain", "containing", "protein", "lem domain", "domain containing", "containing protein", "protein 2", "lem domain containing", "domain containing protein", "containing protein 2", "lem domain containing protein", "domain containing protein 2", "lem domain containing protein 2", "containing 2", "domain containing 2", "lem domain containing 2", "isoform", "2 isoform", "isoform 2", "protein 2 isoform", "2 isoform 2", "containing protein 2 isoform", "protein 2 isoform 2", "domain containing protein 2 isoform", "containing protein 2 isoform 2", "hlem2", "lamina", "associated", "polypeptide", "emerin", "man1", "lamina associated", "associated polypeptide", "polypeptide emerin", "emerin man1", "man1 domain", "lamina associated polypeptide", "associated polypeptide emerin", "polypeptide emerin man1", "emerin man1 domain", "man1 domain containing", "lamina associated polypeptide emerin", "associated polypeptide emerin man1", "polypeptide emerin man1 domain", "emerin man1 domain containing", "man1 domain containing 2", "lamina associated polypeptide emerin man1", "associated polypeptide emerin man1 domain", "polypeptide emerin man1 domain containing", "emerin man1 domain containing 2" ] }, { "record_id": "MONDO:0859149", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859149", "0859149", "mim:619324", "619324" ] }, { "record_id": "MONDO:0859149", "record_type": "disease", "section": "disease_name", "phraselist": [ "hypertriglyceridemia", "hypertriglyceridemia 2" ] }, { "record_id": "MONDO:0859149", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859149", "record_type": "disease", "section": "proteins", "phraselist": [ "q68cj9", "q68cj9 1", "cr3l3_human", "np_001258924", "glycoprotein", "creb3l3", "creb", "creb h", "crebh", "hyst1481", "hytg2" ] }, { "record_id": "MONDO:0859149", "record_type": "disease", "section": "proteins", "phraselist": [ "cyclic", "amp", "responsive", "element", "binding", "protein", "like", "cyclic amp", "amp responsive", "responsive element", "element binding", "binding protein", "protein 3", "3 like", "like protein", "cyclic amp responsive", "amp responsive element", "responsive element binding", "element binding protein", "binding protein 3", "protein 3 like", "3 like protein", "like protein 3", "cyclic amp responsive element", "amp responsive element binding", "responsive element binding protein", "element binding protein 3", "binding protein 3 like", "protein 3 like protein", "3 like protein 3", "cyclic amp responsive element binding", "amp responsive element binding protein", "responsive element binding protein 3", "element binding protein 3 like", "binding protein 3 like protein", "protein 3 like protein 3", "creb/atf", "family", "transcription", "factor", "creb/atf family", "family transcription", "transcription factor", "creb/atf family transcription", "family transcription factor", "creb/atf family transcription factor", "creb", "factor creb", "creb h", "transcription factor creb", "factor creb h", "transcription factor creb h", "camp", "camp responsive", "camp responsive element", "camp responsive element binding", "camp responsive element binding protein", "hepatic", "specific", "hepatic specific", "protein hepatic", "binding protein hepatic", "protein hepatic specific", "element binding protein hepatic", "binding protein hepatic specific", "isoform", "3 isoform", "isoform b", "protein 3 isoform", "3 isoform b", "like protein 3 isoform", "protein 3 isoform b", "3 like protein 3 isoform", "like protein 3 isoform b" ] }, { "record_id": "MONDO:0859150", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859150", "0859150", "mim:619326", "619326" ] }, { "record_id": "MONDO:0859150", "record_type": "disease", "section": "disease_name", "phraselist": [ "bdv", "syndrome", "bdv syndrome", "cpe", "related", "prader", "willi", "like", "cpe related", "related prader", "prader willi", "willi like", "like syndrome", "cpe related prader", "related prader willi", "prader willi like", "willi like syndrome", "cpe related prader willi", "related prader willi like", "prader willi like syndrome", "cpe related prader willi like", "related prader willi like syndrome" ] }, { "record_id": "MONDO:0859150", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859150", "record_type": "disease", "section": "proteins", "phraselist": [ "p16870", "p16870 1", "cbpe_human", "np_001864", "glycoprotein", "cpe", "bdvs", "cph", "iddhh" ] }, { "record_id": "MONDO:0859150", "record_type": "disease", "section": "proteins", "phraselist": [ "carboxypeptidase", "carboxypeptidase e", "3.4.17.10", "cpe", "cph", "carboxypeptidase h", "enkephalin", "convertase", "enkephalin convertase", "prohormone", "processing", "prohormone processing", "processing carboxypeptidase", "prohormone processing carboxypeptidase", "carbocypeptidase", "carbocypeptidase e", "preproprotein", "e preproprotein", "carboxypeptidase e preproprotein", "cobalt", "stimulated", "chromaffin", "granule", "cobalt stimulated", "stimulated chromaffin", "chromaffin granule", "granule carboxypeptidase", "cobalt stimulated chromaffin", "stimulated chromaffin granule", "chromaffin granule carboxypeptidase", "cobalt stimulated chromaffin granule", "stimulated chromaffin granule carboxypeptidase", "cobalt stimulated chromaffin granule carboxypeptidase", "epididymis", "secretory", "sperm", "binding", "protein", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "insulin", "associated", "insulin granule", "granule associated", "associated carboxypeptidase", "insulin granule associated", "granule associated carboxypeptidase", "insulin granule associated carboxypeptidase" ] }, { "record_id": "MONDO:0859151", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859151", "0859151", "mim:619329", "619329" ] }, { "record_id": "MONDO:0859151", "record_type": "disease", "section": "disease_name", "phraselist": [ "fibromuscular", "dysplasia", "multifocal", "fibromuscular dysplasia", "dysplasia multifocal", "fibromuscular dysplasia multifocal" ] }, { "record_id": "MONDO:0859151", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859151", "record_type": "disease", "section": "proteins", "phraselist": [ "p20908", "p20908 1", "co5a1_human", "np_001265003", "glycoprotein", "col5a1", "edscl1", "edsc", "fmdmf" ] }, { "record_id": "MONDO:0859151", "record_type": "disease", "section": "proteins", "phraselist": [ "collagen", "alpha", "chain", "collagen alpha", "alpha 1", "1 v", "collagen alpha 1", "alpha 1 v", "v chain", "collagen alpha 1 v", "1 v chain", "alpha 1 v chain", "isoform", "preproprotein", "chain isoform", "isoform 2", "2 preproprotein", "chain isoform 2", "isoform 2 preproprotein", "v chain isoform", "chain isoform 2 preproprotein", "1 v chain isoform", "v chain isoform 2", "type", "type v", "collagen type", "v alpha", "collagen type v", "type v alpha", "v alpha 1", "type v alpha 1" ] }, { "record_id": "MONDO:0859154", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859154", "0859154", "mim:619339", "619339" ] }, { "record_id": "MONDO:0859154", "record_type": "disease", "section": "disease_name", "phraselist": [ "bartsocas", "papas", "syndrome", "bartsocas papas", "papas syndrome", "syndrome 2", "bartsocas papas syndrome", "papas syndrome 2", "bartsocas papas syndrome 2" ] }, { "record_id": "MONDO:0859154", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859154", "record_type": "disease", "section": "proteins", "phraselist": [ "o15111", "o15111 1", "ikka_human", "np_001269", "glycoprotein", "chuk", "bps2", "ikbka", "ikk", "ikk 1", "alpha", "ikk alpha", "ikk1", "ikka", "nfkbika", "tcf16" ] }, { "record_id": "MONDO:0859154", "record_type": "disease", "section": "proteins", "phraselist": [ "inhibitor", "of", "nuclear", "factor", "kappa", "kinase", "subunit", "alpha", "inhibitor of", "of nuclear", "nuclear factor", "factor kappa", "kappa b", "b kinase", "kinase subunit", "subunit alpha", "inhibitor of nuclear", "of nuclear factor", "nuclear factor kappa", "factor kappa b", "kappa b kinase", "b kinase subunit", "kinase subunit alpha", "inhibitor of nuclear factor", "of nuclear factor kappa", "nuclear factor kappa b", "factor kappa b kinase", "kappa b kinase subunit", "b kinase subunit alpha", "inhibitor of nuclear factor kappa", "of nuclear factor kappa b", "nuclear factor kappa b kinase", "factor kappa b kinase subunit", "kappa b kinase subunit alpha", "2.7.11.10", "conserved", "helix", "loop", "ubiquitous", "conserved helix", "helix loop", "loop helix", "helix ubiquitous", "ubiquitous kinase", "conserved helix loop", "helix loop helix", "loop helix ubiquitous", "helix ubiquitous kinase", "conserved helix loop helix", "helix loop helix ubiquitous", "loop helix ubiquitous kinase", "conserved helix loop helix ubiquitous", "helix loop helix ubiquitous kinase", "i kappa", "kinase 1", "i kappa b", "b kinase 1", "i kappa b kinase", "kappa b kinase 1", "i kappa b kinase 1", "kinase alpha", "b kinase alpha", "kappa b kinase alpha", "i kappa b kinase alpha", "ikk", "ikk 1", "ikk a", "a kinase", "ikk a kinase", "ikk alpha", "ikk1", "ikb", "ikb kinase", "alpha subunit", "ikb kinase alpha", "kinase alpha subunit", "ikb kinase alpha subunit", "ikbka", "ikappab", "ikappab kinase", "nfkbika", "nf", "factor nf", "nf kappa", "b inhibitor", "inhibitor kinase", "nuclear factor nf", "factor nf kappa", "nf kappa b", "kappa b inhibitor", "b inhibitor kinase", "inhibitor kinase alpha", "nuclear factor nf kappa", "factor nf kappa b", "nf kappa b inhibitor", "kappa b inhibitor kinase", "b inhibitor kinase alpha", "nuclear factor nf kappa b", "factor nf kappa b inhibitor", "nf kappa b inhibitor kinase", "kappa b inhibitor kinase alpha", "nfkappab", "factor nfkappab", "nfkappab inhibitor", "nuclear factor nfkappab", "factor nfkappab inhibitor", "nfkappab inhibitor kinase", "nuclear factor nfkappab inhibitor", "factor nfkappab inhibitor kinase", "nfkappab inhibitor kinase alpha", "nuclear factor nfkappab inhibitor kinase", "factor nfkappab inhibitor kinase alpha", "tcf", "16", "tcf 16", "transcription", "transcription factor", "factor 16", "transcription factor 16", "isoform", "alpha isoform", "isoform 1", "subunit alpha isoform", "alpha isoform 1", "kinase subunit alpha isoform", "subunit alpha isoform 1", "b kinase subunit alpha isoform", "kinase subunit alpha isoform 1" ] }, { "record_id": "MONDO:0859156", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859156", "0859156", "mim:619345", "619345" ] }, { "record_id": "MONDO:0859156", "record_type": "disease", "section": "disease_name", "phraselist": [ "dysostosis", "multiplex", "ain", "naz", "type", "dysostosis multiplex", "ain naz", "naz type", "multiplex ain", "ain naz type", "dysostosis multiplex ain", "multiplex ain naz", "dysostosis multiplex ain naz", "multiplex ain naz type" ] }, { "record_id": "MONDO:0859156", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859156", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n6i4", "q8n6i4 1", "lyset_human", "np_056491", "lyset", "c14orf109", "dman", "gcaf", "tmem251" ] }, { "record_id": "MONDO:0859156", "record_type": "disease", "section": "proteins", "phraselist": [ "lysosomal", "enzyme", "trafficking", "factor", "lysosomal enzyme", "enzyme trafficking", "trafficking factor", "lysosomal enzyme trafficking", "enzyme trafficking factor", "lysosomal enzyme trafficking factor", "gcaf", "gnptab", "cleavage", "and", "activity", "gnptab cleavage", "cleavage and", "and activity", "activity factor", "gnptab cleavage and", "cleavage and activity", "and activity factor", "gnptab cleavage and activity", "cleavage and activity factor", "gnptab cleavage and activity factor", "transmembrane", "protein", "251", "transmembrane protein", "protein 251", "transmembrane protein 251", "upf0694", "c14orf109", "upf0694 transmembrane", "protein c14orf109", "upf0694 transmembrane protein", "transmembrane protein c14orf109", "upf0694 transmembrane protein c14orf109", "isoform", "factor isoform", "isoform 2", "trafficking factor isoform", "factor isoform 2", "enzyme trafficking factor isoform", "trafficking factor isoform 2", "lysosomal enzyme trafficking factor isoform", "enzyme trafficking factor isoform 2" ] }, { "record_id": "MONDO:0859157", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859157", "0859157", "mim:619350", "619350" ] }, { "record_id": "MONDO:0859157", "record_type": "disease", "section": "disease_name", "phraselist": [ "visceral", "myopathy", "visceral myopathy", "myopathy 2", "visceral myopathy 2" ] }, { "record_id": "MONDO:0859157", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859157", "record_type": "disease", "section": "proteins", "phraselist": [ "p35749", "p35749 1", "myh11_human", "np_001035202", "glycoprotein", "myh11", "aat4", "faa4", "kiaa0866", "smhc", "smmhc", "smms", "smms 1", "vscm2" ] }, { "record_id": "MONDO:0859157", "record_type": "disease", "section": "proteins", "phraselist": [ "myosin", "11", "myosin 11", "heavy", "chain", "myosin heavy", "heavy chain", "chain 11", "myosin heavy chain", "heavy chain 11", "myosin heavy chain 11", "smooth", "muscle", "isoform", "smooth muscle", "muscle isoform", "chain smooth", "smooth muscle isoform", "heavy chain smooth", "chain smooth muscle", "myosin heavy chain smooth", "heavy chain smooth muscle", "chain smooth muscle isoform", "smmhc", "epididymis", "secretory", "sperm", "binding", "protein", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "11 smooth", "chain 11 smooth", "11 smooth muscle", "heavy chain 11 smooth", "chain 11 smooth muscle", "polypeptide", "heavy polypeptide", "polypeptide 11", "heavy polypeptide 11", "myosin heavy polypeptide", "polypeptide 11 smooth", "myosin heavy polypeptide 11", "heavy polypeptide 11 smooth", "polypeptide 11 smooth muscle", "sm2b", "11 isoform", "isoform sm2b", "myosin 11 isoform", "11 isoform sm2b", "myosin 11 isoform sm2b" ] }, { "record_id": "MONDO:0859158", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859158", "0859158", "mim:619352", "619352" ] }, { "record_id": "MONDO:0859158", "record_type": "disease", "section": "disease_name", "phraselist": [ "ataxia", "intention", "tremor", "and", "hypotonia", "syndrome", "childhood", "onset", "intention tremor", "and hypotonia", "hypotonia syndrome", "childhood onset", "ataxia intention", "tremor and", "and hypotonia syndrome", "syndrome childhood", "ataxia intention tremor", "intention tremor and", "tremor and hypotonia", "hypotonia syndrome childhood", "syndrome childhood onset", "intention tremor and hypotonia", "tremor and hypotonia syndrome", "and hypotonia syndrome childhood", "hypotonia syndrome childhood onset" ] }, { "record_id": "MONDO:0859158", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859158", "record_type": "disease", "section": "proteins", "phraselist": [ "q01851", "q01851 1", "po4f1_human", "np_006228", "glycoprotein", "pou4f1", "atiths", "brn3a", "oct", "t1", "oct t1", "rdc", "rdc 1", "rdc1", "brn", "3a", "brn 3a" ] }, { "record_id": "MONDO:0859158", "record_type": "disease", "section": "proteins", "phraselist": [ "pou", "domain", "class", "transcription", "factor", "pou domain", "class 4", "transcription factor", "factor 1", "domain class", "4 transcription", "transcription factor 1", "pou domain class", "domain class 4", "class 4 transcription", "4 transcription factor", "pou domain class 4", "class 4 transcription factor", "4 transcription factor 1", "brain", "3a", "brain 3a", "specific", "homeobox/pou", "protein", "brain specific", "specific homeobox/pou", "homeobox/pou domain", "domain protein", "protein 3a", "brain specific homeobox/pou", "specific homeobox/pou domain", "homeobox/pou domain protein", "domain protein 3a", "brain specific homeobox/pou domain", "specific homeobox/pou domain protein", "homeobox/pou domain protein 3a", "brain specific homeobox/pou domain protein", "specific homeobox/pou domain protein 3a", "brn", "brn 3a", "rdc", "protein rdc", "rdc 1", "domain protein rdc", "protein rdc 1", "homeobox/pou domain protein rdc", "domain protein rdc 1", "homeobox/pou domain protein rdc 1", "oct", "t1", "oct t1" ] }, { "record_id": "MONDO:0859159", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859159", "0859159", "mim:619354", "619354" ] }, { "record_id": "MONDO:0859159", "record_type": "disease", "section": "disease_name", "phraselist": [ "deafness", "cataract", "impaired", "intellectual", "development", "and", "polyneuropathy", "impaired intellectual", "intellectual development", "and polyneuropathy", "deafness cataract", "cataract impaired", "impaired intellectual development", "development and", "cataract impaired intellectual", "intellectual development and", "development and polyneuropathy", "deafness cataract impaired", "cataract impaired intellectual development", "impaired intellectual development and", "intellectual development and polyneuropathy" ] }, { "record_id": "MONDO:0859159", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859159", "record_type": "disease", "section": "proteins", "phraselist": [ "p17980", "p17980 1", "prs6a_human", "np_002795", "glycoprotein", "psmc3", "dcidp", "ebnds", "rpt5", "tbp1" ] }, { "record_id": "MONDO:0859159", "record_type": "disease", "section": "proteins", "phraselist": [ "26s", "proteasome", "regulatory", "subunit", "6a", "26s proteasome", "proteasome regulatory", "regulatory subunit", "subunit 6a", "26s proteasome regulatory", "proteasome regulatory subunit", "regulatory subunit 6a", "26s proteasome regulatory subunit", "proteasome regulatory subunit 6a", "26s proteasome regulatory subunit 6a", "protease", "26s protease", "protease regulatory", "26s protease regulatory", "protease regulatory subunit", "26s protease regulatory subunit", "protease regulatory subunit 6a", "26s protease regulatory subunit 6a", "aaa", "atpase", "rpt5", "proteasome aaa", "aaa atpase", "atpase subunit", "subunit rpt5", "26s proteasome aaa", "proteasome aaa atpase", "aaa atpase subunit", "atpase subunit rpt5", "26s proteasome aaa atpase", "proteasome aaa atpase subunit", "aaa atpase subunit rpt5", "26s proteasome aaa atpase subunit", "proteasome aaa atpase subunit rpt5", "proteasome 26s", "26s subunit", "subunit atpase", "atpase 3", "proteasome 26s subunit", "26s subunit atpase", "subunit atpase 3", "proteasome 26s subunit atpase", "26s subunit atpase 3", "proteasome 26s subunit atpase 3", "p50", "proteasome subunit", "subunit p50", "proteasome subunit p50", "tbp", "tbp 1", "tat", "binding", "protein", "tat binding", "binding protein", "protein 1", "tat binding protein", "binding protein 1", "tat binding protein 1", "human", "immunodeficiency", "virus", "transactivator", "human immunodeficiency", "immunodeficiency virus", "virus tat", "tat transactivator", "transactivator binding", "human immunodeficiency virus", "immunodeficiency virus tat", "virus tat transactivator", "tat transactivator binding", "transactivator binding protein", "human immunodeficiency virus tat", "immunodeficiency virus tat transactivator", "virus tat transactivator binding", "tat transactivator binding protein", "transactivator binding protein 1", "human immunodeficiency virus tat transactivator", "immunodeficiency virus tat transactivator binding", "virus tat transactivator binding protein", "tat transactivator binding protein 1", "prosome", "macropain", "proteasome prosome", "prosome macropain", "macropain 26s", "macropain 26s subunit", "proteasome prosome macropain", "prosome macropain 26s", "testicular", "secretory", "li", "42", "testicular secretory", "secretory protein", "protein li", "li 42", "testicular secretory protein", "secretory protein li", "protein li 42", "testicular secretory protein li", "secretory protein li 42", "testicular secretory protein li 42" ] }, { "record_id": "MONDO:0859161", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859161", "0859161", "mim:619356", "619356" ] }, { "record_id": "MONDO:0859161", "record_type": "disease", "section": "disease_name", "phraselist": [ "onychodystrophy", "osteodystrophy", "impaired", "intellectual", "development", "and", "seizures", "syndrome", "impaired intellectual", "intellectual development", "and seizures", "seizures syndrome", "onychodystrophy osteodystrophy", "osteodystrophy impaired", "impaired intellectual development", "development and", "and seizures syndrome", "osteodystrophy impaired intellectual", "intellectual development and", "development and seizures", "onychodystrophy osteodystrophy impaired", "osteodystrophy impaired intellectual development", "impaired intellectual development and", "intellectual development and seizures", "development and seizures syndrome" ] }, { "record_id": "MONDO:0859161", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859161", "record_type": "disease", "section": "proteins", "phraselist": [ "q07326", "q07326 1", "pigf_human", "np_002634", "pigf", "oors" ] }, { "record_id": "MONDO:0859161", "record_type": "disease", "section": "proteins", "phraselist": [ "gpi", "ethanolamine", "phosphate", "transferase", "stabilizing", "subunit", "gpi ethanolamine", "ethanolamine phosphate", "phosphate transferase", "stabilizing subunit", "gpi ethanolamine phosphate", "ethanolamine phosphate transferase", "transferase stabilizing", "gpi ethanolamine phosphate transferase", "phosphate transferase stabilizing", "transferase stabilizing subunit", "ethanolamine phosphate transferase stabilizing", "phosphate transferase stabilizing subunit", "transferase 2", "phosphate transferase 2", "2 stabilizing", "ethanolamine phosphate transferase 2", "transferase 2 stabilizing", "2 stabilizing subunit", "gpi ethanolamine phosphate transferase 2", "phosphate transferase 2 stabilizing", "transferase 2 stabilizing subunit", "transferase 3", "phosphate transferase 3", "3 stabilizing", "ethanolamine phosphate transferase 3", "transferase 3 stabilizing", "3 stabilizing subunit", "gpi ethanolamine phosphate transferase 3", "phosphate transferase 3 stabilizing", "transferase 3 stabilizing subunit", "isoform", "subunit isoform", "isoform 1", "stabilizing subunit isoform", "subunit isoform 1", "stabilizing subunit isoform 1", "transferase stabilizing subunit isoform", "gpi11", "homolog", "gpi11 homolog", "pig", "pig f", "phosphatidylinositol", "glycan", "biosynthesis", "class", "protein", "phosphatidylinositol glycan", "glycan biosynthesis", "biosynthesis class", "class f", "f protein", "phosphatidylinositol glycan biosynthesis", "glycan biosynthesis class", "biosynthesis class f", "class f protein", "phosphatidylinositol glycan biosynthesis class", "glycan biosynthesis class f", "biosynthesis class f protein", "phosphatidylinositol glycan biosynthesis class f", "glycan biosynthesis class f protein" ] }, { "record_id": "MONDO:0859162", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859162", "0859162", "mim:619373", "619373" ] }, { "record_id": "MONDO:0859162", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "infantile", "epileptic", "spasms", "neurodevelopmental disorder", "disorder with", "with infantile", "infantile epileptic", "epileptic spasms", "neurodevelopmental disorder with", "disorder with infantile", "with infantile epileptic", "infantile epileptic spasms", "neurodevelopmental disorder with infantile", "disorder with infantile epileptic", "with infantile epileptic spasms", "neurodevelopmental disorder with infantile epileptic", "disorder with infantile epileptic spasms" ] }, { "record_id": "MONDO:0859162", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859162", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ubb6", "q9ubb6 1", "ncdn_human", "np_001014841", "glycoprotein", "ncdn", "kiaa0607", "nedies" ] }, { "record_id": "MONDO:0859162", "record_type": "disease", "section": "proteins", "phraselist": [ "neurochondrin", "isoform", "neurochondrin isoform", "isoform 2", "neurochondrin isoform 2", "norbin" ] }, { "record_id": "MONDO:0859163", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859163", "0859163", "mim:619376", "619376" ] }, { "record_id": "MONDO:0859163", "record_type": "disease", "section": "disease_name", "phraselist": [ "faundes", "banka", "syndrome", "faundes banka", "banka syndrome", "faundes banka syndrome" ] }, { "record_id": "MONDO:0859163", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859163", "record_type": "disease", "section": "proteins", "phraselist": [ "p63241", "p63241 1", "if5a1_human", "np_001137232", "glycoprotein", "eif5a", "eif", "5a", "eif 5a", "eif5a1", "fabas", "4d", "eif 4d", "eif5ai" ] }, { "record_id": "MONDO:0859163", "record_type": "disease", "section": "proteins", "phraselist": [ "eukaryotic", "translation", "initiation", "factor", "5a", "eukaryotic translation", "translation initiation", "initiation factor", "factor 5a", "5a 1", "eukaryotic translation initiation", "translation initiation factor", "initiation factor 5a", "factor 5a 1", "eukaryotic translation initiation factor", "translation initiation factor 5a", "initiation factor 5a 1", "eukaryotic translation initiation factor 5a", "translation initiation factor 5a 1", "isoform", "eukaryotic initiation", "5a isoform", "isoform 1", "eukaryotic initiation factor", "factor 5a isoform", "5a isoform 1", "eukaryotic initiation factor 5a", "initiation factor 5a isoform", "factor 5a isoform 1", "eukaryotic initiation factor 5a isoform", "initiation factor 5a isoform 1", "rev", "binding", "rev binding", "binding factor", "rev binding factor", "eif", "4d", "eif 4d", "eif 5a", "eif 5a 1", "5a1", "eif 5a1", "1 isoform", "isoform a", "5a 1 isoform", "1 isoform a", "factor 5a 1 isoform", "5a 1 isoform a", "initiation factor 5a 1 isoform", "factor 5a 1 isoform a" ] }, { "record_id": "MONDO:0859164", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859164", "0859164", "mim:619377", "619377" ] }, { "record_id": "MONDO:0859164", "record_type": "disease", "section": "disease_name", "phraselist": [ "osteootohepatoenteric", "syndrome", "osteootohepatoenteric syndrome" ] }, { "record_id": "MONDO:0859164", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859164", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h3u1", "q9h3u1 1", "un45a_human", "np_001034764", "glycoprotein", "unc45a", "gc", "unc45", "gc unc45", "gcunc", "45", "gcunc 45", "gcunc45", "iro039700", "oohe", "smap", "smap 1", "smap1", "unc", "45a", "unc 45a" ] }, { "record_id": "MONDO:0859164", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "unc", "45", "homolog", "protein unc", "unc 45", "45 homolog", "homolog a", "protein unc 45", "unc 45 homolog", "45 homolog a", "protein unc 45 homolog", "unc 45 homolog a", "protein unc 45 homolog a", "gcunc", "gcunc 45", "smap", "smap 1", "smooth", "muscle", "cell", "associated", "smooth muscle", "muscle cell", "cell associated", "associated protein", "protein 1", "smooth muscle cell", "muscle cell associated", "cell associated protein", "associated protein 1", "smooth muscle cell associated", "muscle cell associated protein", "cell associated protein 1", "smooth muscle cell associated protein", "muscle cell associated protein 1", "45a", "unc 45a", "general", "unc45", "general cell", "cell unc45", "general cell unc45", "isoform", "a isoform", "isoform 3", "homolog a isoform", "a isoform 3", "45 homolog a isoform", "homolog a isoform 3", "unc 45 homolog a isoform", "45 homolog a isoform 3" ] }, { "record_id": "MONDO:0859165", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859165", "0859165", "mim:619383", "619383" ] }, { "record_id": "MONDO:0859165", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hypotonia", "facial", "dysmorphism", "and", "brain", "abnormalities", "neurodevelopmental disorder", "disorder with", "with hypotonia", "facial dysmorphism", "and brain", "brain abnormalities", "neurodevelopmental disorder with", "disorder with hypotonia", "hypotonia facial", "dysmorphism and", "and brain abnormalities", "neurodevelopmental disorder with hypotonia", "with hypotonia facial", "hypotonia facial dysmorphism", "facial dysmorphism and", "dysmorphism and brain", "disorder with hypotonia facial", "with hypotonia facial dysmorphism", "facial dysmorphism and brain", "dysmorphism and brain abnormalities" ] }, { "record_id": "MONDO:0859165", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859165", "record_type": "disease", "section": "proteins", "phraselist": [ "q6zmi0", "q6zmi0 1", "ppr21_human", "np_001129101", "glycoprotein", "ppp1r21", "ccdc128", "ferry2", "fy", "fy 2", "klraq1", "nedhfba" ] }, { "record_id": "MONDO:0859165", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "phosphatase", "regulatory", "subunit", "21", "protein phosphatase", "phosphatase 1", "1 regulatory", "regulatory subunit", "subunit 21", "protein phosphatase 1", "phosphatase 1 regulatory", "1 regulatory subunit", "regulatory subunit 21", "protein phosphatase 1 regulatory", "phosphatase 1 regulatory subunit", "1 regulatory subunit 21", "protein phosphatase 1 regulatory subunit", "phosphatase 1 regulatory subunit 21", "coiled", "coil", "domain", "containing", "128", "coiled coil", "coil domain", "domain containing", "containing protein", "protein 128", "coiled coil domain", "coil domain containing", "domain containing protein", "containing protein 128", "coiled coil domain containing", "coil domain containing protein", "domain containing protein 128", "coiled coil domain containing protein", "coil domain containing protein 128", "ferry", "endosomal", "rab5", "effector", "complex", "ferry endosomal", "endosomal rab5", "rab5 effector", "effector complex", "complex subunit", "subunit 2", "ferry endosomal rab5", "endosomal rab5 effector", "rab5 effector complex", "effector complex subunit", "complex subunit 2", "ferry endosomal rab5 effector", "endosomal rab5 effector complex", "rab5 effector complex subunit", "effector complex subunit 2", "ferry endosomal rab5 effector complex", "endosomal rab5 effector complex subunit", "rab5 effector complex subunit 2", "fy", "fy 2", "klraq", "motif", "klraq motif", "motif containing", "containing 1", "klraq motif containing", "motif containing 1", "klraq motif containing 1", "protein 1", "motif containing protein", "containing protein 1", "klraq motif containing protein", "motif containing protein 1", "klraq motif containing protein 1", "containing 128", "domain containing 128", "coil domain containing 128", "coiled coil domain containing 128", "isoform", "21 isoform", "isoform 1", "subunit 21 isoform", "21 isoform 1", "regulatory subunit 21 isoform", "subunit 21 isoform 1", "1 regulatory subunit 21 isoform", "regulatory subunit 21 isoform 1" ] }, { "record_id": "MONDO:0859167", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859167", "0859167", "mim:619406", "619406" ] }, { "record_id": "MONDO:0859167", "record_type": "disease", "section": "disease_name", "phraselist": [ "hypokalemic", "tubulopathy", "and", "deafness", "hypokalemic tubulopathy", "tubulopathy and", "and deafness", "hypokalemic tubulopathy and", "tubulopathy and deafness", "hypokalemic tubulopathy and deafness" ] }, { "record_id": "MONDO:0859167", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859167", "record_type": "disease", "section": "proteins", "phraselist": [ "q9npi9", "q9npi9 1", "kcj16_human", "np_001257351", "kcnj16", "bir9", "hktd", "kir5.1" ] }, { "record_id": "MONDO:0859167", "record_type": "disease", "section": "proteins", "phraselist": [ "inward", "rectifier", "potassium", "channel", "16", "inward rectifier", "rectifier potassium", "potassium channel", "channel 16", "inward rectifier potassium", "rectifier potassium channel", "potassium channel 16", "inward rectifier potassium channel", "rectifier potassium channel 16", "inward rectifier potassium channel 16", "kir5.1", "rectifier k", "k +", "channel kir5.1", "inward rectifier k", "rectifier k +", "+ channel", "inward rectifier k +", "k + channel", "+ channel kir5.1", "rectifier k + channel", "k + channel kir5.1", "inwardly", "rectifying", "subfamily", "member", "inwardly rectifying", "rectifying subfamily", "subfamily j", "j member", "member 16", "channel inwardly", "inwardly rectifying subfamily", "rectifying subfamily j", "subfamily j member", "j member 16", "potassium channel inwardly", "channel inwardly rectifying", "inwardly rectifying subfamily j", "rectifying subfamily j member", "subfamily j member 16", "potassium channel inwardly rectifying", "channel inwardly rectifying subfamily", "inwardly rectifying subfamily j member", "rectifying subfamily j member 16", "k+", "rectifier k+", "k+ channel", "inward rectifier k+", "rectifier k+ channel", "k+ channel kir5.1", "inward rectifier k+ channel", "rectifier k+ channel kir5.1", "inward rectifier k+ channel kir5.1", "isoform", "16 isoform", "isoform b", "channel 16 isoform", "16 isoform b", "potassium channel 16 isoform", "channel 16 isoform b", "rectifier potassium channel 16 isoform", "potassium channel 16 isoform b", "voltage", "gated", "potassium voltage", "voltage gated", "gated channel", "channel subfamily", "potassium voltage gated", "voltage gated channel", "gated channel subfamily", "channel subfamily j", "potassium voltage gated channel", "voltage gated channel subfamily", "gated channel subfamily j", "channel subfamily j member", "potassium voltage gated channel subfamily", "voltage gated channel subfamily j", "gated channel subfamily j member", "channel subfamily j member 16" ] }, { "record_id": "MONDO:0859169", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859169", "0859169", "mim:619426", "619426" ] }, { "record_id": "MONDO:0859169", "record_type": "disease", "section": "disease_name", "phraselist": [ "white", "kernohan", "syndrome", "white kernohan", "kernohan syndrome", "white kernohan syndrome" ] }, { "record_id": "MONDO:0859169", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859169", "record_type": "disease", "section": "proteins", "phraselist": [ "q16531", "q16531 1", "ddb1_human", "np_001914", "glycoprotein", "ddb1", "ddba", "uv", "uv ddb1", "whikers", "xap1", "xpce", "xpe", "bf", "xpe bf" ] }, { "record_id": "MONDO:0859169", "record_type": "disease", "section": "proteins", "phraselist": [ "dna", "damage", "binding", "protein", "dna damage", "damage binding", "binding protein", "protein 1", "dna damage binding", "damage binding protein", "binding protein 1", "dna damage binding protein", "damage binding protein 1", "dna damage binding protein 1", "ddb", "p127", "subunit", "ddb p127", "p127 subunit", "ddb p127 subunit", "ddba", "protein a", "binding protein a", "damage binding protein a", "dna damage binding protein a", "specific", "damage specific", "specific dna", "dna binding", "damage specific dna", "specific dna binding", "dna binding protein", "damage specific dna binding", "specific dna binding protein", "dna binding protein 1", "damage specific dna binding protein", "specific dna binding protein 1", "hbv", "associated", "hbv x", "x associated", "associated protein", "hbv x associated", "x associated protein", "associated protein 1", "hbv x associated protein", "x associated protein 1", "hbv x associated protein 1", "uv", "uv ddb", "ddb 1", "uv ddb 1", "damaged", "factor", "uv damaged", "damaged dna", "binding factor", "uv damaged dna", "damaged dna binding", "dna binding factor", "uv damaged dna binding", "damaged dna binding factor", "uv damaged dna binding factor", "damaged dna binding protein", "uv damaged dna binding protein", "damaged dna binding protein 1", "xap", "xap 1", "xpce", "xpe", "bf", "xpe bf", "xpe binding", "xpe binding factor", "xeroderma", "pigmentosum", "group", "complementing", "xeroderma pigmentosum", "pigmentosum group", "group e", "e complementing", "complementing protein", "xeroderma pigmentosum group", "pigmentosum group e", "group e complementing", "e complementing protein", "xeroderma pigmentosum group e", "pigmentosum group e complementing", "group e complementing protein", "xeroderma pigmentosum group e complementing", "pigmentosum group e complementing protein", "127kda", "1 127kda", "protein 1 127kda", "binding protein 1 127kda" ] }, { "record_id": "MONDO:0859170", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859170", "0859170", "mim:619446", "619446" ] }, { "record_id": "MONDO:0859170", "record_type": "disease", "section": "disease_name", "phraselist": [ "retinal", "dystrophy", "and", "microvillus", "inclusion", "disease", "retinal dystrophy", "dystrophy and", "and microvillus", "microvillus inclusion", "inclusion disease", "retinal dystrophy and", "dystrophy and microvillus", "and microvillus inclusion", "microvillus inclusion disease", "retinal dystrophy and microvillus", "dystrophy and microvillus inclusion", "and microvillus inclusion disease", "retinal dystrophy and microvillus inclusion", "dystrophy and microvillus inclusion disease" ] }, { "record_id": "MONDO:0859170", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859170", "record_type": "disease", "section": "proteins", "phraselist": [ "q13277", "q13277 1", "stx3_human", "np_001171511", "stx3", "diar12", "mvid2", "rdmvid", "stx3a" ] }, { "record_id": "MONDO:0859170", "record_type": "disease", "section": "proteins", "phraselist": [ "syntaxin", "syntaxin 3", "3a", "syntaxin 3a", "3b", "syntaxin 3b", "isoform", "3 isoform", "isoform 2", "syntaxin 3 isoform", "3 isoform 2", "syntaxin 3 isoform 2" ] }, { "record_id": "MONDO:0859172", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859172", "0859172", "mim:619462", "619462" ] }, { "record_id": "MONDO:0859172", "record_type": "disease", "section": "disease_name", "phraselist": [ "hemolytic", "disease", "of", "fetus", "and", "newborn", "rh", "induced", "hemolytic disease", "disease of", "of fetus", "fetus and", "and newborn", "rh induced", "hemolytic disease of", "disease of fetus", "of fetus and", "fetus and newborn", "newborn rh", "hemolytic disease of fetus", "disease of fetus and", "of fetus and newborn", "and newborn rh", "newborn rh induced", "hemolytic disease of fetus and", "disease of fetus and newborn", "fetus and newborn rh", "and newborn rh induced" ] }, { "record_id": "MONDO:0859172", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859172", "record_type": "disease", "section": "proteins", "phraselist": [ "q02161", "q02161 1", "rhd_human", "np_001121163", "rhd", "cd240d", "diiic", "hdfnrh", "rh30", "rhced", "rhdva", "tt", "rhdva tt", "rhdel", "rhpii", "rhxiii", "rh", "rh4", "rhdcw", "rhii", "rhk562", "ii", "rhk562 ii", "rhpi", "slc42a5" ] }, { "record_id": "MONDO:0859172", "record_type": "disease", "section": "proteins", "phraselist": [ "blood", "group", "rh", "polypeptide", "blood group", "group rh", "rh d", "blood group rh", "group rh d", "d polypeptide", "blood group rh d", "rh d polypeptide", "group rh d polypeptide", "antigen", "dcs", "d antigen", "antigen dcs", "d antigen dcs", "rh polypeptide", "polypeptide 2", "rh polypeptide 2", "rhxiii", "rh blood", "group c", "c antigen", "rh blood group", "blood group c", "group c antigen", "rh blood group c", "blood group c antigen", "rh blood group c antigen", "ccee", "group ccee", "ccee antigen", "blood group ccee", "group ccee antigen", "rh blood group ccee", "blood group ccee antigen", "rh blood group ccee antigen", "weak", "type", "160", "group d", "antigen weak", "weak d", "d type", "type 160", "blood group d", "group d antigen", "d antigen weak", "antigen weak d", "weak d type", "d type 160", "rh blood group d", "blood group d antigen", "group d antigen weak", "d antigen weak d", "antigen weak d type", "weak d type 160", "rh blood group d antigen", "blood group d antigen weak", "group d antigen weak d", "d antigen weak d type", "antigen weak d type 160", "evans", "group antigen", "antigen evans", "blood group antigen", "group antigen evans", "rh blood group antigen", "blood group antigen evans", "rh blood group antigen evans", "anitgen", "d anitgen", "group d anitgen", "blood group d anitgen", "rhd", "rhd antigen", "rhd blood", "rhd blood group", "rhd blood group antigen", "glycoprotein", "rhd glycoprotein", "rhd polypeptide", "rhpii", "rhesus", "rhesus d", "rhesus d antigen", "protein", "d blood", "group protein", "rhesus d blood", "d blood group", "blood group protein", "rhesus d blood group", "d blood group protein", "rhesus d blood group protein", "rhesus blood", "antigen d", "rhesus blood group", "group antigen d", "rhesus blood group antigen", "blood group antigen d", "rhesus blood group antigen d", "system", "rhesus system", "system d", "rhesus system d", "system d polypeptide", "rhesus system d polypeptide", "isoform", "polypeptide isoform", "isoform 2", "polypeptide isoform 2", "d polypeptide isoform", "rh d polypeptide isoform", "d polypeptide isoform 2", "protein rhd", "group protein rhd", "blood group protein rhd", "weak rhd", "weak rhd antigen" ] }, { "record_id": "MONDO:0859173", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859173", "0859173", "mim:619464", "619464" ] }, { "record_id": "MONDO:0859173", "record_type": "disease", "section": "disease_name", "phraselist": [ "sick", "sinus", "syndrome", "sick sinus", "sinus syndrome", "syndrome 4", "sick sinus syndrome", "sinus syndrome 4", "sick sinus syndrome 4" ] }, { "record_id": "MONDO:0859173", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859173", "record_type": "disease", "section": "proteins", "phraselist": [ "p62879", "p62879 1", "gbb2_human", "np_005264", "glycoprotein", "gnb2", "hg2c1", "nedhydf", "sss4" ] }, { "record_id": "MONDO:0859173", "record_type": "disease", "section": "proteins", "phraselist": [ "guanine", "nucleotide", "binding", "protein", "/g", "subunit", "beta", "guanine nucleotide", "nucleotide binding", "binding protein", "protein g", "g i", "i /g", "/g s", "s /g", "/g t", "subunit beta", "beta 2", "guanine nucleotide binding", "nucleotide binding protein", "binding protein g", "protein g i", "g i /g", "i /g s", "/g s /g", "s /g t", "t subunit", "subunit beta 2", "guanine nucleotide binding protein", "nucleotide binding protein g", "binding protein g i", "protein g i /g", "g i /g s", "i /g s /g", "/g s /g t", "/g t subunit", "t subunit beta", "guanine nucleotide binding protein g", "nucleotide binding protein g i", "binding protein g i /g", "protein g i /g s", "g i /g s /g", "i /g s /g t", "s /g t subunit", "/g t subunit beta", "t subunit beta 2", "g protein", "protein subunit", "g protein subunit", "protein subunit beta", "g protein subunit beta", "protein subunit beta 2", "g protein subunit beta 2", "2 subunit", "protein beta", "beta 2 subunit", "g protein beta", "protein beta 2", "g protein beta 2", "protein beta 2 subunit", "transducin", "chain", "transducin beta", "beta chain", "chain 2", "transducin beta chain", "beta chain 2", "transducin beta chain 2", "epididymis", "secretory", "sperm", "epididymis secretory", "secretory sperm", "sperm binding", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "polypeptide", "beta polypeptide", "polypeptide 2", "beta polypeptide 2", "protein g protein", "binding protein g protein", "protein beta polypeptide", "beta subunit", "subunit 2", "t beta", "beta subunit 2", "/g t beta", "t beta subunit", "s /g t beta", "/g t beta subunit", "t beta subunit 2", "heterotrimeric", "2c1", "heterotrimeric guanine", "protein 2c1", "heterotrimeric guanine nucleotide", "binding protein 2c1", "heterotrimeric guanine nucleotide binding", "nucleotide binding protein 2c1", "heterotrimeric guanine nucleotide binding protein", "guanine nucleotide binding protein 2c1", "signal", "transducing", "regulatory", "signal transducing", "transducing guanine", "binding regulatory", "regulatory protein", "signal transducing guanine", "transducing guanine nucleotide", "nucleotide binding regulatory", "binding regulatory protein", "regulatory protein beta", "protein beta subunit", "signal transducing guanine nucleotide", "transducing guanine nucleotide binding", "guanine nucleotide binding regulatory", "nucleotide binding regulatory protein", "binding regulatory protein beta", "regulatory protein beta subunit", "signal transducing guanine nucleotide binding", "transducing guanine nucleotide binding regulatory", "guanine nucleotide binding regulatory protein", "nucleotide binding regulatory protein beta", "binding regulatory protein beta subunit" ] }, { "record_id": "MONDO:0859174", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859174", "0859174", "mim:619467", "619467" ] }, { "record_id": "MONDO:0859174", "record_type": "disease", "section": "disease_name", "phraselist": [ "usmani", "riazuddin", "syndrome", "autosomal", "dominant", "usmani riazuddin", "riazuddin syndrome", "autosomal dominant", "usmani riazuddin syndrome", "syndrome autosomal", "riazuddin syndrome autosomal", "syndrome autosomal dominant", "usmani riazuddin syndrome autosomal", "riazuddin syndrome autosomal dominant" ] }, { "record_id": "MONDO:0859174", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859174", "record_type": "disease", "section": "proteins", "phraselist": [ "o43747", "o43747 1", "ap1g1_human", "np_001025178", "glycoprotein", "ap1g1", "adtg", "clapg1", "usrisd" ] }, { "record_id": "MONDO:0859174", "record_type": "disease", "section": "proteins", "phraselist": [ "ap", "complex", "subunit", "gamma", "ap 1", "1 complex", "complex subunit", "subunit gamma", "gamma 1", "ap 1 complex", "1 complex subunit", "complex subunit gamma", "subunit gamma 1", "ap 1 complex subunit", "1 complex subunit gamma", "complex subunit gamma 1", "ap 1 complex subunit gamma", "1 complex subunit gamma 1", "isoform", "1 isoform", "isoform a", "gamma 1 isoform", "1 isoform a", "subunit gamma 1 isoform", "gamma 1 isoform a", "complex subunit gamma 1 isoform", "subunit gamma 1 isoform a", "adaptor", "protein", "adaptor protein", "protein complex", "complex ap", "1 subunit", "adaptor protein complex", "protein complex ap", "complex ap 1", "ap 1 subunit", "1 subunit gamma", "adaptor protein complex ap", "protein complex ap 1", "complex ap 1 subunit", "ap 1 subunit gamma", "1 subunit gamma 1", "adaptor protein complex ap 1", "protein complex ap 1 subunit", "complex ap 1 subunit gamma", "ap 1 subunit gamma 1", "related", "adaptor related", "related protein", "complex 1", "adaptor related protein", "related protein complex", "protein complex 1", "complex 1 subunit", "adaptor related protein complex", "related protein complex 1", "protein complex 1 subunit", "complex 1 subunit gamma", "adaptor related protein complex 1", "related protein complex 1 subunit", "protein complex 1 subunit gamma", "complex 1 subunit gamma 1", "clathrin", "assembly", "large", "chain", "clathrin assembly", "assembly protein", "1 gamma", "1 large", "large chain", "clathrin assembly protein", "assembly protein complex", "complex 1 gamma", "1 gamma 1", "gamma 1 large", "1 large chain", "clathrin assembly protein complex", "assembly protein complex 1", "protein complex 1 gamma", "complex 1 gamma 1", "1 gamma 1 large", "gamma 1 large chain", "clathrin assembly protein complex 1", "assembly protein complex 1 gamma", "protein complex 1 gamma 1", "complex 1 gamma 1 large", "1 gamma 1 large chain", "adaptin", "gamma adaptin", "gamma1", "gamma1 adaptin", "golgi", "ha1/ap1", "golgi adaptor", "adaptor ha1/ap1", "ha1/ap1 adaptin", "adaptin subunit", "golgi adaptor ha1/ap1", "adaptor ha1/ap1 adaptin", "ha1/ap1 adaptin subunit", "adaptin subunit gamma", "golgi adaptor ha1/ap1 adaptin", "adaptor ha1/ap1 adaptin subunit", "ha1/ap1 adaptin subunit gamma", "adaptin subunit gamma 1", "golgi adaptor ha1/ap1 adaptin subunit", "adaptor ha1/ap1 adaptin subunit gamma", "ha1/ap1 adaptin subunit gamma 1", "adapter", "adapter related", "adapter related protein", "adapter related protein complex", "adapter related protein complex 1", "gamma 1 subunit", "1 gamma 1 subunit", "related protein complex 1 gamma", "complex 1 gamma 1 subunit", "gamma large", "1 gamma large", "gamma large chain", "complex 1 gamma large", "1 gamma large chain", "protein complex 1 gamma large", "complex 1 gamma large chain", "associated/assembly/adaptor", "clathrin associated/assembly/adaptor", "associated/assembly/adaptor protein", "clathrin associated/assembly/adaptor protein", "protein large", "large gamma", "associated/assembly/adaptor protein large", "large gamma 1", "clathrin associated/assembly/adaptor protein large", "protein large gamma", "adaptin gamma", "gamma subunit", "ha1/ap1 adaptin gamma", "adaptin gamma subunit", "adaptor ha1/ap1 adaptin gamma", "ha1/ap1 adaptin gamma subunit", "golgi adaptor ha1/ap1 adaptin gamma", "adaptor ha1/ap1 adaptin gamma subunit", "testicular", "tissue", "li", "21", "testicular tissue", "tissue protein", "protein li", "li 21", "testicular tissue protein", "tissue protein li", "protein li 21", "testicular tissue protein li", "tissue protein li 21", "testicular tissue protein li 21" ] }, { "record_id": "MONDO:0859175", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859175", "0859175", "mim:619468", "619468" ] }, { "record_id": "MONDO:0859175", "record_type": "disease", "section": "disease_name", "phraselist": [ "nephronophthisis", "like", "nephropathy", "nephronophthisis like", "like nephropathy", "nephropathy 2", "nephronophthisis like nephropathy", "like nephropathy 2", "nephronophthisis like nephropathy 2" ] }, { "record_id": "MONDO:0859175", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859175", "record_type": "disease", "section": "proteins", "phraselist": [ "q8ivj1", "q8ivj1 1", "s41a1_human", "np_776253", "slc41a1", "mgte", "nphpl2" ] }, { "record_id": "MONDO:0859175", "record_type": "disease", "section": "proteins", "phraselist": [ "solute", "carrier", "family", "41", "member", "solute carrier", "carrier family", "family 41", "41 member", "member 1", "solute carrier family", "carrier family 41", "family 41 member", "41 member 1", "solute carrier family 41", "carrier family 41 member", "family 41 member 1", "solute carrier family 41 member", "carrier family 41 member 1", "magnesium", "transporter", "magnesium transporter", "41 magnesium", "family 41 magnesium", "41 magnesium transporter", "transporter member", "carrier family 41 magnesium", "family 41 magnesium transporter", "magnesium transporter member", "transporter member 1" ] }, { "record_id": "MONDO:0859176", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859176", "0859176", "mim:619470", "619470" ] }, { "record_id": "MONDO:0859176", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "motor", "and", "speech", "delay", "behavioral", "abnormalities", "neurodevelopmental disorder", "disorder with", "with motor", "motor and", "and speech", "speech delay", "delay and", "and behavioral", "behavioral abnormalities", "neurodevelopmental disorder with", "disorder with motor", "with motor and", "motor and speech", "and speech delay", "speech delay and", "delay and behavioral", "and behavioral abnormalities", "neurodevelopmental disorder with motor", "disorder with motor and", "with motor and speech", "motor and speech delay", "and speech delay and", "speech delay and behavioral", "delay and behavioral abnormalities", "neurodevelopmental disorder with motor and", "disorder with motor and speech", "with motor and speech delay", "motor and speech delay and", "and speech delay and behavioral", "speech delay and behavioral abnormalities" ] }, { "record_id": "MONDO:0859176", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859176", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h0r3", "q9h0r3 1", "tm222_human", "np_115501", "glycoprotein", "tmem222", "c1orf160", "nedmosba" ] }, { "record_id": "MONDO:0859176", "record_type": "disease", "section": "proteins", "phraselist": [ "transmembrane", "protein", "222", "transmembrane protein", "protein 222", "transmembrane protein 222" ] }, { "record_id": "MONDO:0859177", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859177", "0859177", "mim:619472", "619472" ] }, { "record_id": "MONDO:0859177", "record_type": "disease", "section": "disease_name", "phraselist": [ "viss", "syndrome", "viss syndrome" ] }, { "record_id": "MONDO:0859177", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859177", "record_type": "disease", "section": "proteins", "phraselist": [ "o15397", "o15397 1", "ipo8_human", "np_001177924", "glycoprotein", "ipo8", "ranbp8", "viss" ] }, { "record_id": "MONDO:0859177", "record_type": "disease", "section": "proteins", "phraselist": [ "importin", "importin 8", "imp8", "ran", "binding", "protein", "ran binding", "binding protein", "protein 8", "ran binding protein", "binding protein 8", "ran binding protein 8", "ranbp8", "isoform", "8 isoform", "isoform 2", "importin 8 isoform", "8 isoform 2", "importin 8 isoform 2" ] }, { "record_id": "MONDO:0859178", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859178", "0859178", "mim:619475", "619475" ] }, { "record_id": "MONDO:0859178", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "delay", "impaired", "speech", "and", "behavioral", "abnormalities", "developmental delay", "impaired speech", "and behavioral", "behavioral abnormalities", "delay impaired", "speech and", "and behavioral abnormalities", "developmental delay impaired", "delay impaired speech", "impaired speech and", "speech and behavioral", "developmental delay impaired speech", "impaired speech and behavioral", "speech and behavioral abnormalities" ] }, { "record_id": "MONDO:0859178", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859178", "record_type": "disease", "section": "proteins", "phraselist": [ "q01082", "q01082 1", "sptb2_human", "np_003119", "glycoprotein", "sptbn1", "ddisba", "elf", "hel102", "sptb2", "betaspii" ] }, { "record_id": "MONDO:0859178", "record_type": "disease", "section": "proteins", "phraselist": [ "spectrin", "beta", "chain", "non", "erythrocytic", "spectrin beta", "beta chain", "non erythrocytic", "erythrocytic 1", "spectrin beta chain", "chain non", "non erythrocytic 1", "beta chain non", "chain non erythrocytic", "spectrin beta chain non", "beta chain non erythrocytic", "chain non erythrocytic 1", "ii", "beta ii", "ii spectrin", "beta ii spectrin", "fodrin", "fodrin beta", "fodrin beta chain", "erythroid", "non erythroid", "erythroid beta", "chain 1", "spectrin non", "non erythroid beta", "erythroid beta chain", "beta chain 1", "spectrin non erythroid", "non erythroid beta chain", "erythroid beta chain 1", "spectrin non erythroid beta", "non erythroid beta chain 1", "beta g", "g spectrin", "beta g spectrin", "beta fodrin", "beta spectrin", "spectrin 2", "beta spectrin 2", "spectrin ii", "beta spectrin ii", "beta spectrin non", "spectrin non erythrocytic", "beta spectrin non erythrocytic", "spectrin non erythrocytic 1", "beta spectrin non erythrocytic 1", "embryonic", "liver", "embryonic liver", "liver beta", "embryonic liver beta", "liver beta fodrin", "embryonic liver beta fodrin", "epididymis", "luminal", "protein", "102", "epididymis luminal", "luminal protein", "protein 102", "epididymis luminal protein", "luminal protein 102", "epididymis luminal protein 102", "brain", "brain 1", "chain brain", "beta chain brain", "chain brain 1", "spectrin beta chain brain", "beta chain brain 1", "isoform", "1 isoform", "isoform 1", "erythrocytic 1 isoform", "1 isoform 1", "non erythrocytic 1 isoform", "erythrocytic 1 isoform 1", "non erythrocytic 1 isoform 1" ] }, { "record_id": "MONDO:0859180", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859180", "0859180", "mim:619481", "619481" ] }, { "record_id": "MONDO:0859180", "record_type": "disease", "section": "disease_name", "phraselist": [ "bile", "acid", "malabsorption", "primary", "bile acid", "acid malabsorption", "bile acid malabsorption", "malabsorption primary", "primary 2", "acid malabsorption primary", "bile acid malabsorption primary", "malabsorption primary 2" ] }, { "record_id": "MONDO:0859180", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859180", "record_type": "disease", "section": "proteins", "phraselist": [ "q86uw2", "q86uw2 1", "ostb_human", "np_849190", "slc51b", "ostbeta", "ostb", "pbam2", "slc51a1bp" ] }, { "record_id": "MONDO:0859180", "record_type": "disease", "section": "proteins", "phraselist": [ "organic", "solute", "transporter", "subunit", "beta", "organic solute", "solute transporter", "transporter subunit", "subunit beta", "organic solute transporter", "solute transporter subunit", "transporter subunit beta", "organic solute transporter subunit", "solute transporter subunit beta", "organic solute transporter subunit beta", "ost", "ost beta", "slc51a1", "binding", "protein", "slc51a1 binding", "binding protein", "slc51a1 binding protein", "carrier", "family", "51", "solute carrier", "carrier family", "family 51", "51 subunit", "solute carrier family", "carrier family 51", "family 51 subunit", "51 subunit beta", "solute carrier family 51", "carrier family 51 subunit", "family 51 subunit beta", "solute carrier family 51 subunit", "carrier family 51 subunit beta", "transporter beta", "beta subunit", "solute transporter beta", "transporter beta subunit", "organic solute transporter beta", "solute transporter beta subunit", "organic solute transporter beta subunit", "51 beta", "family 51 beta", "51 beta subunit", "carrier family 51 beta", "family 51 beta subunit", "solute carrier family 51 beta", "carrier family 51 beta subunit" ] }, { "record_id": "MONDO:0859181", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859181", "0859181", "mim:619488", "619488" ] }, { "record_id": "MONDO:0859181", "record_type": "disease", "section": "disease_name", "phraselist": [ "degcags", "syndrome", "degcags syndrome" ] }, { "record_id": "MONDO:0859181", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859181", "record_type": "disease", "section": "proteins", "phraselist": [ "q32m78", "q32m78 1", "zn699_human", "np_940937", "znf699", "degcags", "hang" ] }, { "record_id": "MONDO:0859181", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "protein", "699", "zinc finger", "finger protein", "protein 699", "zinc finger protein", "finger protein 699", "zinc finger protein 699", "hangover", "homolog", "hangover homolog", "drosophila", "of", "homolog of", "hangover drosophila", "drosophila homolog", "drosophila homolog of", "hangover drosophila homolog" ] }, { "record_id": "MONDO:0859182", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859182", "0859182", "mim:619489", "619489" ] }, { "record_id": "MONDO:0859182", "record_type": "disease", "section": "disease_name", "phraselist": [ "short", "stature", "dauber", "argente", "type", "short stature", "dauber argente", "argente type", "stature dauber", "dauber argente type", "short stature dauber", "stature dauber argente", "short stature dauber argente", "stature dauber argente type" ] }, { "record_id": "MONDO:0859182", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859182", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bxp8", "q9bxp8 1", "papp2_human", "np_064714", "glycoprotein", "pappa2", "papp", "a2", "papp a2", "papp e", "pappe", "plac3", "ssda" ] }, { "record_id": "MONDO:0859182", "record_type": "disease", "section": "proteins", "phraselist": [ "pappalysin", "pappalysin 2", "3.4.24.", "papp", "a2", "papp a2", "papp e", "pregnancy", "associated", "plasma", "protein", "pregnancy associated", "associated plasma", "plasma protein", "protein a2", "pregnancy associated plasma", "associated plasma protein", "plasma protein a2", "pregnancy associated plasma protein", "associated plasma protein a2", "pregnancy associated plasma protein a2", "e1", "protein e1", "plasma protein e1", "associated plasma protein e1", "pregnancy associated plasma protein e1", "isoform", "precursor", "2 isoform", "isoform 1", "1 precursor", "pappalysin 2 isoform", "2 isoform 1", "isoform 1 precursor", "pappalysin 2 isoform 1", "2 isoform 1 precursor", "pappalysin 2 isoform 1 precursor", "placenta", "specific", "placenta specific", "specific 3", "placenta specific 3", "preproprotein", "plasma preproprotein", "preproprotein a2", "associated plasma preproprotein", "plasma preproprotein a2", "pregnancy associated plasma preproprotein", "associated plasma preproprotein a2", "pregnancy associated plasma preproprotein a2" ] }, { "record_id": "MONDO:0859183", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859183", "0859183", "mim:619491", "619491" ] }, { "record_id": "MONDO:0859183", "record_type": "disease", "section": "disease_name", "phraselist": [ "parkinson", "disease", "24", "autosomal", "dominant", "susceptibility", "to", "parkinson disease", "disease 24", "autosomal dominant", "susceptibility to", "parkinson disease 24", "24 autosomal", "dominant susceptibility", "disease 24 autosomal", "24 autosomal dominant", "autosomal dominant susceptibility", "dominant susceptibility to", "parkinson disease 24 autosomal", "disease 24 autosomal dominant", "autosomal dominant susceptibility to" ] }, { "record_id": "MONDO:0859183", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859183", "record_type": "disease", "section": "proteins", "phraselist": [ "p07602", "p07602 1", "sap_human", "np_001035930", "glycoprotein", "psap", "glba", "park24", "psapd", "sap1", "sap2" ] }, { "record_id": "MONDO:0859183", "record_type": "disease", "section": "proteins", "phraselist": [ "prosaposin", "a1", "activator", "a1 activator", "csact", "cerebroside", "sulfate", "cerebroside sulfate", "sulfate activator", "cerebroside sulfate activator", "co", "beta", "glucosidase", "co beta", "beta glucosidase", "co beta glucosidase", "component", "component c", "dispersin", "glucosylceramidase", "glucosylceramidase activator", "proactivator", "polypeptide", "proactivator polypeptide", "protein", "protein a", "protein c", "sap", "sap 1", "sap 2", "sphingolipid", "sphingolipid activator", "activator protein", "protein 1", "sphingolipid activator protein", "activator protein 1", "sphingolipid activator protein 1", "protein 2", "activator protein 2", "sphingolipid activator protein 2", "sulfatide/gm1", "sulfatide/gm1 activator", "precursor", "of", "saposins", "precursor of", "of saposins", "precursor of saposins", "isoform", "preproprotein", "prosaposin isoform", "isoform b", "b preproprotein", "prosaposin isoform b", "isoform b preproprotein", "prosaposin isoform b preproprotein", "saposin", "saposin a", "saposin b", "saposin c", "saposin d" ] }, { "record_id": "MONDO:0859184", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859184", "0859184", "mim:619501", "619501" ] }, { "record_id": "MONDO:0859184", "record_type": "disease", "section": "disease_name", "phraselist": [ "ventriculomegaly", "and", "arthrogryposis", "ventriculomegaly and", "and arthrogryposis", "ventriculomegaly and arthrogryposis" ] }, { "record_id": "MONDO:0859184", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859184", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ulh0", "q9ulh0 1", "kdis_human", "np_065789", "glycoprotein", "kidins220", "arms", "kiaa1250", "sino", "venarg" ] }, { "record_id": "MONDO:0859184", "record_type": "disease", "section": "proteins", "phraselist": [ "kinase", "interacting", "substrate", "of", "220", "kda", "kinase d", "d interacting", "interacting substrate", "substrate of", "of 220", "220 kda", "kinase d interacting", "d interacting substrate", "interacting substrate of", "substrate of 220", "of 220 kda", "kinase d interacting substrate", "d interacting substrate of", "interacting substrate of 220", "substrate of 220 kda", "kinase d interacting substrate of", "d interacting substrate of 220", "interacting substrate of 220 kda", "ankyrin", "repeat", "rich", "membrane", "spanning", "protein", "ankyrin repeat", "repeat rich", "rich membrane", "membrane spanning", "spanning protein", "ankyrin repeat rich", "repeat rich membrane", "rich membrane spanning", "membrane spanning protein", "ankyrin repeat rich membrane", "repeat rich membrane spanning", "rich membrane spanning protein", "ankyrin repeat rich membrane spanning", "repeat rich membrane spanning protein", "220kda", "substrate 220kda", "interacting substrate 220kda", "d interacting substrate 220kda", "kinase d interacting substrate 220kda", "isoform", "kda isoform", "isoform 1", "220 kda isoform", "kda isoform 1", "of 220 kda isoform", "220 kda isoform 1", "substrate of 220 kda isoform", "of 220 kda isoform 1" ] }, { "record_id": "MONDO:0859185", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859185", "0859185", "mim:619503", "619503" ] }, { "record_id": "MONDO:0859185", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hypotonia", "and", "dysmorphic", "facies", "neurodevelopmental disorder", "disorder with", "with hypotonia", "hypotonia and", "and dysmorphic", "dysmorphic facies", "neurodevelopmental disorder with", "disorder with hypotonia", "with hypotonia and", "hypotonia and dysmorphic", "and dysmorphic facies", "neurodevelopmental disorder with hypotonia", "disorder with hypotonia and", "with hypotonia and dysmorphic", "hypotonia and dysmorphic facies", "neurodevelopmental disorder with hypotonia and", "disorder with hypotonia and dysmorphic", "with hypotonia and dysmorphic facies" ] }, { "record_id": "MONDO:0859185", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859185", "record_type": "disease", "section": "proteins", "phraselist": [ "p62879", "p62879 1", "gbb2_human", "np_005264", "glycoprotein", "gnb2", "hg2c1", "nedhydf", "sss4" ] }, { "record_id": "MONDO:0859185", "record_type": "disease", "section": "proteins", "phraselist": [ "guanine", "nucleotide", "binding", "protein", "/g", "subunit", "beta", "guanine nucleotide", "nucleotide binding", "binding protein", "protein g", "g i", "i /g", "/g s", "s /g", "/g t", "subunit beta", "beta 2", "guanine nucleotide binding", "nucleotide binding protein", "binding protein g", "protein g i", "g i /g", "i /g s", "/g s /g", "s /g t", "t subunit", "subunit beta 2", "guanine nucleotide binding protein", "nucleotide binding protein g", "binding protein g i", "protein g i /g", "g i /g s", "i /g s /g", "/g s /g t", "/g t subunit", "t subunit beta", "guanine nucleotide binding protein g", "nucleotide binding protein g i", "binding protein g i /g", "protein g i /g s", "g i /g s /g", "i /g s /g t", "s /g t subunit", "/g t subunit beta", "t subunit beta 2", "g protein", "protein subunit", "g protein subunit", "protein subunit beta", "g protein subunit beta", "protein subunit beta 2", "g protein subunit beta 2", "2 subunit", "protein beta", "beta 2 subunit", "g protein beta", "protein beta 2", "g protein beta 2", "protein beta 2 subunit", "transducin", "chain", "transducin beta", "beta chain", "chain 2", "transducin beta chain", "beta chain 2", "transducin beta chain 2", "epididymis", "secretory", "sperm", "epididymis secretory", "secretory sperm", "sperm binding", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "polypeptide", "beta polypeptide", "polypeptide 2", "beta polypeptide 2", "protein g protein", "binding protein g protein", "protein beta polypeptide", "beta subunit", "subunit 2", "t beta", "beta subunit 2", "/g t beta", "t beta subunit", "s /g t beta", "/g t beta subunit", "t beta subunit 2", "heterotrimeric", "2c1", "heterotrimeric guanine", "protein 2c1", "heterotrimeric guanine nucleotide", "binding protein 2c1", "heterotrimeric guanine nucleotide binding", "nucleotide binding protein 2c1", "heterotrimeric guanine nucleotide binding protein", "guanine nucleotide binding protein 2c1", "signal", "transducing", "regulatory", "signal transducing", "transducing guanine", "binding regulatory", "regulatory protein", "signal transducing guanine", "transducing guanine nucleotide", "nucleotide binding regulatory", "binding regulatory protein", "regulatory protein beta", "protein beta subunit", "signal transducing guanine nucleotide", "transducing guanine nucleotide binding", "guanine nucleotide binding regulatory", "nucleotide binding regulatory protein", "binding regulatory protein beta", "regulatory protein beta subunit", "signal transducing guanine nucleotide binding", "transducing guanine nucleotide binding regulatory", "guanine nucleotide binding regulatory protein", "nucleotide binding regulatory protein beta", "binding regulatory protein beta subunit" ] }, { "record_id": "MONDO:0859186", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859186", "0859186", "mim:619504", "619504" ] }, { "record_id": "MONDO:0859186", "record_type": "disease", "section": "disease_name", "phraselist": [ "chopra", "amiel", "gordon", "syndrome", "chopra amiel", "amiel gordon", "gordon syndrome", "chopra amiel gordon", "amiel gordon syndrome", "chopra amiel gordon syndrome" ] }, { "record_id": "MONDO:0859186", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859186", "record_type": "disease", "section": "proteins", "phraselist": [ "o75179", "o75179 1", "anr17_human", "np_001273700", "glycoprotein", "ankrd17", "cags", "gtar", "kiaa0697", "mask2", "ny", "br", "16", "ny br", "br 16", "ny br 16" ] }, { "record_id": "MONDO:0859186", "record_type": "disease", "section": "proteins", "phraselist": [ "ankyrin", "repeat", "domain", "containing", "protein", "17", "ankyrin repeat", "repeat domain", "domain containing", "containing protein", "protein 17", "ankyrin repeat domain", "repeat domain containing", "domain containing protein", "containing protein 17", "ankyrin repeat domain containing", "repeat domain containing protein", "domain containing protein 17", "ankyrin repeat domain containing protein", "repeat domain containing protein 17", "gene", "trap", "gene trap", "trap ankyrin", "repeat protein", "gene trap ankyrin", "trap ankyrin repeat", "ankyrin repeat protein", "gene trap ankyrin repeat", "trap ankyrin repeat protein", "gene trap ankyrin repeat protein", "serologically", "defined", "breast", "cancer", "antigen", "ny", "br", "16", "serologically defined", "defined breast", "breast cancer", "cancer antigen", "antigen ny", "ny br", "br 16", "serologically defined breast", "defined breast cancer", "breast cancer antigen", "cancer antigen ny", "antigen ny br", "ny br 16", "serologically defined breast cancer", "defined breast cancer antigen", "breast cancer antigen ny", "cancer antigen ny br", "antigen ny br 16", "serologically defined breast cancer antigen", "defined breast cancer antigen ny", "breast cancer antigen ny br", "cancer antigen ny br 16", "isoform", "17 isoform", "isoform c", "protein 17 isoform", "17 isoform c", "containing protein 17 isoform", "protein 17 isoform c", "domain containing protein 17 isoform", "containing protein 17 isoform c" ] }, { "record_id": "MONDO:0859187", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859187", "0859187", "mim:619512", "619512" ] }, { "record_id": "MONDO:0859187", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hypotonia", "and", "brain", "abnormalities", "neurodevelopmental disorder", "disorder with", "with hypotonia", "hypotonia and", "and brain", "brain abnormalities", "neurodevelopmental disorder with", "disorder with hypotonia", "with hypotonia and", "hypotonia and brain", "and brain abnormalities", "neurodevelopmental disorder with hypotonia", "disorder with hypotonia and", "with hypotonia and brain", "hypotonia and brain abnormalities", "neurodevelopmental disorder with hypotonia and", "disorder with hypotonia and brain", "with hypotonia and brain abnormalities" ] }, { "record_id": "MONDO:0859187", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859187", "record_type": "disease", "section": "proteins", "phraselist": [ "p51790", "p51790 1", "clcn3_human", "np_001230301", "glycoprotein", "clcn3", "clc3", "clc", "clc 3", "nedhyba", "nedsba" ] }, { "record_id": "MONDO:0859187", "record_type": "disease", "section": "proteins", "phraselist": [ "/cl", "exchange", "transporter", "h +", "+ /cl", "exchange transporter", "transporter 3", "h + /cl", "exchange transporter 3", "/cl exchange", "chloride", "channel", "protein", "chloride channel", "channel protein", "protein 3", "chloride channel protein", "channel protein 3", "chloride channel protein 3", "clc", "chloride transporter", "transporter clc", "clc 3", "chloride transporter clc", "transporter clc 3", "chloride transporter clc 3", "isoform", "3 isoform", "isoform a", "transporter 3 isoform", "3 isoform a", "exchange transporter 3 isoform", "transporter 3 isoform a", "exchange transporter 3 isoform a", "channel 3", "chloride channel 3", "voltage", "sensitive", "voltage sensitive", "sensitive 3", "channel voltage", "voltage sensitive 3", "chloride channel voltage", "channel voltage sensitive", "chloride channel voltage sensitive", "channel voltage sensitive 3", "gated", "chloride voltage", "voltage gated", "gated channel", "chloride voltage gated", "voltage gated channel", "gated channel 3", "chloride voltage gated channel", "voltage gated channel 3", "chloride voltage gated channel 3" ] }, { "record_id": "MONDO:0859188", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859188", "0859188", "mim:619517", "619517" ] }, { "record_id": "MONDO:0859188", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "seizures", "and", "brain", "abnormalities", "neurodevelopmental disorder", "disorder with", "with seizures", "seizures and", "and brain", "brain abnormalities", "neurodevelopmental disorder with", "disorder with seizures", "with seizures and", "seizures and brain", "and brain abnormalities", "neurodevelopmental disorder with seizures", "disorder with seizures and", "with seizures and brain", "seizures and brain abnormalities", "neurodevelopmental disorder with seizures and", "disorder with seizures and brain", "with seizures and brain abnormalities" ] }, { "record_id": "MONDO:0859188", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859188", "record_type": "disease", "section": "proteins", "phraselist": [ "p51790", "p51790 1", "clcn3_human", "np_001230301", "glycoprotein", "clcn3", "clc3", "clc", "clc 3", "nedhyba", "nedsba" ] }, { "record_id": "MONDO:0859188", "record_type": "disease", "section": "proteins", "phraselist": [ "/cl", "exchange", "transporter", "h +", "+ /cl", "exchange transporter", "transporter 3", "h + /cl", "exchange transporter 3", "/cl exchange", "chloride", "channel", "protein", "chloride channel", "channel protein", "protein 3", "chloride channel protein", "channel protein 3", "chloride channel protein 3", "clc", "chloride transporter", "transporter clc", "clc 3", "chloride transporter clc", "transporter clc 3", "chloride transporter clc 3", "isoform", "3 isoform", "isoform a", "transporter 3 isoform", "3 isoform a", "exchange transporter 3 isoform", "transporter 3 isoform a", "exchange transporter 3 isoform a", "channel 3", "chloride channel 3", "voltage", "sensitive", "voltage sensitive", "sensitive 3", "channel voltage", "voltage sensitive 3", "chloride channel voltage", "channel voltage sensitive", "chloride channel voltage sensitive", "channel voltage sensitive 3", "gated", "chloride voltage", "voltage gated", "gated channel", "chloride voltage gated", "voltage gated channel", "gated channel 3", "chloride voltage gated channel", "voltage gated channel 3", "chloride voltage gated channel 3" ] }, { "record_id": "MONDO:0859189", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859189", "0859189", "mim:619518", "619518" ] }, { "record_id": "MONDO:0859189", "record_type": "disease", "section": "disease_name", "phraselist": [ "muscular", "dystrophy", "congenital", "hearing", "loss", "and", "ovarian", "insufficiency", "syndrome", "muscular dystrophy", "congenital hearing", "hearing loss", "and ovarian", "ovarian insufficiency", "insufficiency syndrome", "dystrophy congenital", "congenital hearing loss", "loss and", "and ovarian insufficiency", "ovarian insufficiency syndrome", "muscular dystrophy congenital", "dystrophy congenital hearing", "hearing loss and", "loss and ovarian", "and ovarian insufficiency syndrome", "muscular dystrophy congenital hearing", "dystrophy congenital hearing loss", "congenital hearing loss and", "hearing loss and ovarian", "loss and ovarian insufficiency" ] }, { "record_id": "MONDO:0859189", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859189", "record_type": "disease", "section": "proteins", "phraselist": [ "o95749", "o95749 1", "ggpps_human", "np_001032354", "ggps1", "ggpps1", "ggpps", "mdhlo", "mudhlov" ] }, { "record_id": "MONDO:0859189", "record_type": "disease", "section": "proteins", "phraselist": [ "geranylgeranyl", "pyrophosphate", "synthase", "geranylgeranyl pyrophosphate", "pyrophosphate synthase", "geranylgeranyl pyrophosphate synthase", "2e", "6e", "farnesyl", "diphosphate", "2e 6e", "farnesyl diphosphate", "diphosphate synthase", "6e farnesyl", "farnesyl diphosphate synthase", "2e 6e farnesyl", "6e farnesyl diphosphate", "2e 6e farnesyl diphosphate", "6e farnesyl diphosphate synthase", "2.5.1.", "2.5.1.10", "2.5.1.1", "2.5.1.29", "dimethylallyltranstransferase", "farnesyltranstransferase", "ggpp", "ggpp synthase", "ggppsase", "geranylgeranyl diphosphate", "geranylgeranyl diphosphate synthase", "geranyltranstransferase", "isoform", "synthase isoform", "isoform a", "pyrophosphate synthase isoform", "synthase isoform a", "geranylgeranyl pyrophosphate synthase isoform", "pyrophosphate synthase isoform a", "geranylgeranyl pyrophosphate synthase isoform a" ] }, { "record_id": "MONDO:0859190", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859190", "0859190", "mim:619522", "619522" ] }, { "record_id": "MONDO:0859190", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "craniofacial", "syndrome", "with", "variable", "renal", "and", "cardiac", "abnormalities", "neurodevelopmental craniofacial", "craniofacial syndrome", "syndrome with", "with variable", "variable renal", "renal and", "and cardiac", "cardiac abnormalities", "neurodevelopmental craniofacial syndrome", "craniofacial syndrome with", "syndrome with variable", "with variable renal", "variable renal and", "renal and cardiac", "and cardiac abnormalities", "neurodevelopmental craniofacial syndrome with", "craniofacial syndrome with variable", "syndrome with variable renal", "with variable renal and", "variable renal and cardiac", "renal and cardiac abnormalities", "neurodevelopmental craniofacial syndrome with variable", "craniofacial syndrome with variable renal", "syndrome with variable renal and", "with variable renal and cardiac", "variable renal and cardiac abnormalities", "zmym2", "related", "disorder", "multiple", "anomalies", "zmym2 related", "related neurodevelopmental", "neurodevelopmental disorder", "disorder with", "with multiple", "multiple anomalies", "zmym2 related neurodevelopmental", "related neurodevelopmental disorder", "neurodevelopmental disorder with", "disorder with multiple", "with multiple anomalies", "zmym2 related neurodevelopmental disorder", "related neurodevelopmental disorder with", "neurodevelopmental disorder with multiple", "disorder with multiple anomalies", "zmym2 related neurodevelopmental disorder with", "related neurodevelopmental disorder with multiple", "neurodevelopmental disorder with multiple anomalies" ] }, { "record_id": "MONDO:0859190", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859190", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ubw7", "q9ubw7 1", "zmym2_human", "np_001177893", "glycoprotein", "zmym2", "fim", "mym", "necrc", "ramp", "scll", "znf198" ] }, { "record_id": "MONDO:0859190", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "mym", "type", "protein", "zinc finger", "finger mym", "mym type", "type protein", "protein 2", "zinc finger mym", "finger mym type", "mym type protein", "type protein 2", "zinc finger mym type", "finger mym type protein", "mym type protein 2", "zinc finger mym type protein", "finger mym type protein 2", "fused", "in", "myeloproliferative", "disorders", "fused in", "in myeloproliferative", "myeloproliferative disorders", "disorders protein", "fused in myeloproliferative", "in myeloproliferative disorders", "myeloproliferative disorders protein", "fused in myeloproliferative disorders", "in myeloproliferative disorders protein", "fused in myeloproliferative disorders protein", "rearranged", "atypical", "disorder", "rearranged in", "in atypical", "atypical myeloproliferative", "myeloproliferative disorder", "disorder protein", "rearranged in atypical", "in atypical myeloproliferative", "atypical myeloproliferative disorder", "myeloproliferative disorder protein", "rearranged in atypical myeloproliferative", "in atypical myeloproliferative disorder", "atypical myeloproliferative disorder protein", "rearranged in atypical myeloproliferative disorder", "in atypical myeloproliferative disorder protein", "198", "finger protein", "protein 198", "zinc finger protein", "finger protein 198", "zinc finger protein 198", "an", "in an", "an atypical", "rearranged in an", "in an atypical", "an atypical myeloproliferative", "rearranged in an atypical", "in an atypical myeloproliferative", "an atypical myeloproliferative disorder", "rearranged in an atypical myeloproliferative", "in an atypical myeloproliferative disorder", "isoform", "2 isoform", "isoform 1", "protein 2 isoform", "2 isoform 1", "type protein 2 isoform", "protein 2 isoform 1", "mym type protein 2 isoform", "type protein 2 isoform 1", "type 2", "mym type 2", "finger mym type 2" ] }, { "record_id": "MONDO:0859191", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859191", "0859191", "mim:619534", "619534" ] }, { "record_id": "MONDO:0859191", "record_type": "disease", "section": "disease_name", "phraselist": [ "biliary", "renal", "neurologic", "and", "skeletal", "syndrome", "and skeletal", "skeletal syndrome", "biliary renal", "renal neurologic", "neurologic and", "and skeletal syndrome", "neurologic and skeletal", "biliary renal neurologic", "renal neurologic and", "neurologic and skeletal syndrome" ] }, { "record_id": "MONDO:0859191", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859191", "record_type": "disease", "section": "proteins", "phraselist": [ "a0avf1", "a0avf1 1", "ift56_human", "np_001138392", "ift56", "brens", "dyf13", "ttc26", "dyf", "13", "dyf 13" ] }, { "record_id": "MONDO:0859191", "record_type": "disease", "section": "proteins", "phraselist": [ "intraflagellar", "transport", "protein", "56", "intraflagellar transport", "transport protein", "protein 56", "intraflagellar transport protein", "transport protein 56", "intraflagellar transport protein 56", "tpr", "repeat", "26", "tpr repeat", "repeat protein", "protein 26", "tpr repeat protein", "repeat protein 26", "tpr repeat protein 26", "tetratricopeptide", "tetratricopeptide repeat", "tetratricopeptide repeat protein", "tetratricopeptide repeat protein 26", "isoform", "56 isoform", "isoform 2", "protein 56 isoform", "56 isoform 2", "transport protein 56 isoform", "protein 56 isoform 2", "intraflagellar transport protein 56 isoform", "transport protein 56 isoform 2", "domain", "repeat domain", "domain 26", "tetratricopeptide repeat domain", "repeat domain 26", "tetratricopeptide repeat domain 26" ] }, { "record_id": "MONDO:0859192", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859192", "0859192", "mim:619538", "619538" ] }, { "record_id": "MONDO:0859192", "record_type": "disease", "section": "disease_name", "phraselist": [ "cerebral", "cavernous", "malformation", "cerebral cavernous", "cavernous malformation", "malformation 4", "cerebral cavernous malformation", "cavernous malformation 4", "cerebral cavernous malformation 4", "malformations", "cavernous malformations", "malformations 4", "cerebral cavernous malformations", "cavernous malformations 4", "cerebral cavernous malformations 4" ] }, { "record_id": "MONDO:0859192", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859192", "record_type": "disease", "section": "proteins", "phraselist": [ "p42336", "p42336 1", "pk3ca_human", "np_006209", "pik3ca", "ccm4", "clapo", "clove", "cws5", "hmh", "mcap", "mcmtc", "mcm", "pi3k", "alpha", "pi3k alpha", "p110", "p110 alpha" ] }, { "record_id": "MONDO:0859192", "record_type": "disease", "section": "proteins", "phraselist": [ "phosphatidylinositol", "bisphosphate", "kinase", "catalytic", "subunit", "alpha", "isoform", "phosphatidylinositol 4", "4 5", "5 bisphosphate", "bisphosphate 3", "3 kinase", "kinase catalytic", "catalytic subunit", "subunit alpha", "alpha isoform", "phosphatidylinositol 4 5", "4 5 bisphosphate", "5 bisphosphate 3", "bisphosphate 3 kinase", "3 kinase catalytic", "kinase catalytic subunit", "catalytic subunit alpha", "subunit alpha isoform", "phosphatidylinositol 4 5 bisphosphate", "4 5 bisphosphate 3", "5 bisphosphate 3 kinase", "bisphosphate 3 kinase catalytic", "3 kinase catalytic subunit", "kinase catalytic subunit alpha", "catalytic subunit alpha isoform", "phosphatidylinositol 4 5 bisphosphate 3", "4 5 bisphosphate 3 kinase", "5 bisphosphate 3 kinase catalytic", "bisphosphate 3 kinase catalytic subunit", "3 kinase catalytic subunit alpha", "kinase catalytic subunit alpha isoform", "2.7.1.137", "2.7.1.153", "2.7.11.1", "pi3", "p110", "pi3 kinase", "kinase p110", "p110 subunit", "pi3 kinase p110", "kinase p110 subunit", "p110 subunit alpha", "pi3 kinase p110 subunit", "kinase p110 subunit alpha", "pi3 kinase p110 subunit alpha", "kinase subunit", "pi3 kinase subunit", "kinase subunit alpha", "pi3 kinase subunit alpha", "pi3k", "pi3k alpha", "pi3kalpha", "110", "kda", "kinase 110", "110 kda", "kda catalytic", "3 kinase 110", "kinase 110 kda", "110 kda catalytic", "kda catalytic subunit", "bisphosphate 3 kinase 110", "3 kinase 110 kda", "kinase 110 kda catalytic", "110 kda catalytic subunit", "kda catalytic subunit alpha", "5 bisphosphate 3 kinase 110", "bisphosphate 3 kinase 110 kda", "3 kinase 110 kda catalytic", "kinase 110 kda catalytic subunit", "110 kda catalytic subunit alpha", "phosphoinositide", "phosphoinositide 3", "kinase alpha", "phosphoinositide 3 kinase", "3 kinase alpha", "phosphoinositide 3 kinase alpha", "polypeptide", "catalytic alpha", "alpha polypeptide", "kinase catalytic alpha", "catalytic alpha polypeptide", "phosphoinositide 3 kinase catalytic", "3 kinase catalytic alpha", "kinase catalytic alpha polypeptide", "phosphoinositide 3 kinase catalytic alpha", "3 kinase catalytic alpha polypeptide", "ptdins", "ptdins 3", "ptdins 3 kinase", "3 kinase subunit", "ptdins 3 kinase subunit", "3 kinase subunit alpha", "ptdins 3 kinase subunit alpha", "subunit p110", "p110 alpha", "kinase subunit p110", "subunit p110 alpha", "3 kinase subunit p110", "kinase subunit p110 alpha", "ptdins 3 kinase subunit p110", "3 kinase subunit p110 alpha", "serine/threonine", "protein", "pik3ca", "serine/threonine protein", "protein kinase", "kinase pik3ca", "serine/threonine protein kinase", "protein kinase pik3ca", "serine/threonine protein kinase pik3ca", "mutant", "mutant phosphatidylinositol", "mutant phosphatidylinositol 4", "mutant phosphatidylinositol 4 5", "mutant phosphatidylinositol 4 5 bisphosphate", "p110alpha", "kd", "phosphatidylinositol 3", "110 kd", "phosphatidylinositol 3 kinase", "catalytic 110", "kd alpha", "catalytic 110 kd", "110 kd alpha", "phosphatidylinositol 3 kinase catalytic", "kinase catalytic 110" ] }, { "record_id": "MONDO:0859194", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859194", "0859194", "mim:619543", "619543" ] }, { "record_id": "MONDO:0859194", "record_type": "disease", "section": "disease_name", "phraselist": [ "boudin", "mortier", "syndrome", "boudin mortier", "mortier syndrome", "boudin mortier syndrome" ] }, { "record_id": "MONDO:0859194", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859194", "record_type": "disease", "section": "proteins", "phraselist": [ "p17342", "p17342 1", "anprc_human", "np_000899", "glycoprotein", "npr3", "anp", "anp c", "anpr", "anpr c", "anprc", "bomos", "c5orf23", "gucy2b", "npr", "npr c", "nprc" ] }, { "record_id": "MONDO:0859194", "record_type": "disease", "section": "proteins", "phraselist": [ "atrial", "natriuretic", "peptide", "receptor", "atrial natriuretic", "natriuretic peptide", "peptide receptor", "receptor 3", "atrial natriuretic peptide", "natriuretic peptide receptor", "peptide receptor 3", "atrial natriuretic peptide receptor", "natriuretic peptide receptor 3", "atrial natriuretic peptide receptor 3", "anp", "anp c", "anpr", "anpr c", "clearance", "peptide clearance", "clearance receptor", "natriuretic peptide clearance", "peptide clearance receptor", "atrial natriuretic peptide clearance", "natriuretic peptide clearance receptor", "atrial natriuretic peptide clearance receptor", "type", "receptor type", "type c", "peptide receptor type", "receptor type c", "natriuretic peptide receptor type", "peptide receptor type c", "atrial natriuretic peptide receptor type", "natriuretic peptide receptor type c", "npr", "npr c", "isoform", "precursor", "3 isoform", "isoform 2", "2 precursor", "receptor 3 isoform", "3 isoform 2", "isoform 2 precursor", "peptide receptor 3 isoform", "receptor 3 isoform 2", "3 isoform 2 precursor", "natriuretic peptide receptor 3 isoform", "peptide receptor 3 isoform 2", "receptor 3 isoform 2 precursor", "c/guanylate", "cyclase", "atrionatriuretic", "receptor c/guanylate", "c/guanylate cyclase", "cyclase c", "atrionatriuretic peptide", "receptor c", "peptide receptor c/guanylate", "receptor c/guanylate cyclase", "c/guanylate cyclase c", "c atrionatriuretic", "atrionatriuretic peptide receptor", "peptide receptor c", "natriuretic peptide receptor c/guanylate", "peptide receptor c/guanylate cyclase", "receptor c/guanylate cyclase c", "cyclase c atrionatriuretic", "c atrionatriuretic peptide", "atrionatriuretic peptide receptor c", "natriuretic peptide receptor c/guanylate cyclase", "peptide receptor c/guanylate cyclase c", "c/guanylate cyclase c atrionatriuretic", "cyclase c atrionatriuretic peptide", "c atrionatriuretic peptide receptor" ] }, { "record_id": "MONDO:0859196", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859196", "0859196", "mim:619548", "619548" ] }, { "record_id": "MONDO:0859196", "record_type": "disease", "section": "disease_name", "phraselist": [ "usmani", "riazuddin", "syndrome", "autosomal", "recessive", "usmani riazuddin", "riazuddin syndrome", "autosomal recessive", "usmani riazuddin syndrome", "syndrome autosomal", "riazuddin syndrome autosomal", "syndrome autosomal recessive", "usmani riazuddin syndrome autosomal", "riazuddin syndrome autosomal recessive" ] }, { "record_id": "MONDO:0859196", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859196", "record_type": "disease", "section": "proteins", "phraselist": [ "o43747", "o43747 1", "ap1g1_human", "np_001025178", "glycoprotein", "ap1g1", "adtg", "clapg1", "usrisd" ] }, { "record_id": "MONDO:0859196", "record_type": "disease", "section": "proteins", "phraselist": [ "ap", "complex", "subunit", "gamma", "ap 1", "1 complex", "complex subunit", "subunit gamma", "gamma 1", "ap 1 complex", "1 complex subunit", "complex subunit gamma", "subunit gamma 1", "ap 1 complex subunit", "1 complex subunit gamma", "complex subunit gamma 1", "ap 1 complex subunit gamma", "1 complex subunit gamma 1", "isoform", "1 isoform", "isoform a", "gamma 1 isoform", "1 isoform a", "subunit gamma 1 isoform", "gamma 1 isoform a", "complex subunit gamma 1 isoform", "subunit gamma 1 isoform a", "adaptor", "protein", "adaptor protein", "protein complex", "complex ap", "1 subunit", "adaptor protein complex", "protein complex ap", "complex ap 1", "ap 1 subunit", "1 subunit gamma", "adaptor protein complex ap", "protein complex ap 1", "complex ap 1 subunit", "ap 1 subunit gamma", "1 subunit gamma 1", "adaptor protein complex ap 1", "protein complex ap 1 subunit", "complex ap 1 subunit gamma", "ap 1 subunit gamma 1", "related", "adaptor related", "related protein", "complex 1", "adaptor related protein", "related protein complex", "protein complex 1", "complex 1 subunit", "adaptor related protein complex", "related protein complex 1", "protein complex 1 subunit", "complex 1 subunit gamma", "adaptor related protein complex 1", "related protein complex 1 subunit", "protein complex 1 subunit gamma", "complex 1 subunit gamma 1", "clathrin", "assembly", "large", "chain", "clathrin assembly", "assembly protein", "1 gamma", "1 large", "large chain", "clathrin assembly protein", "assembly protein complex", "complex 1 gamma", "1 gamma 1", "gamma 1 large", "1 large chain", "clathrin assembly protein complex", "assembly protein complex 1", "protein complex 1 gamma", "complex 1 gamma 1", "1 gamma 1 large", "gamma 1 large chain", "clathrin assembly protein complex 1", "assembly protein complex 1 gamma", "protein complex 1 gamma 1", "complex 1 gamma 1 large", "1 gamma 1 large chain", "adaptin", "gamma adaptin", "gamma1", "gamma1 adaptin", "golgi", "ha1/ap1", "golgi adaptor", "adaptor ha1/ap1", "ha1/ap1 adaptin", "adaptin subunit", "golgi adaptor ha1/ap1", "adaptor ha1/ap1 adaptin", "ha1/ap1 adaptin subunit", "adaptin subunit gamma", "golgi adaptor ha1/ap1 adaptin", "adaptor ha1/ap1 adaptin subunit", "ha1/ap1 adaptin subunit gamma", "adaptin subunit gamma 1", "golgi adaptor ha1/ap1 adaptin subunit", "adaptor ha1/ap1 adaptin subunit gamma", "ha1/ap1 adaptin subunit gamma 1", "adapter", "adapter related", "adapter related protein", "adapter related protein complex", "adapter related protein complex 1", "gamma 1 subunit", "1 gamma 1 subunit", "related protein complex 1 gamma", "complex 1 gamma 1 subunit", "gamma large", "1 gamma large", "gamma large chain", "complex 1 gamma large", "1 gamma large chain", "protein complex 1 gamma large", "complex 1 gamma large chain", "associated/assembly/adaptor", "clathrin associated/assembly/adaptor", "associated/assembly/adaptor protein", "clathrin associated/assembly/adaptor protein", "protein large", "large gamma", "associated/assembly/adaptor protein large", "large gamma 1", "clathrin associated/assembly/adaptor protein large", "protein large gamma", "adaptin gamma", "gamma subunit", "ha1/ap1 adaptin gamma", "adaptin gamma subunit", "adaptor ha1/ap1 adaptin gamma", "ha1/ap1 adaptin gamma subunit", "golgi adaptor ha1/ap1 adaptin gamma", "adaptor ha1/ap1 adaptin gamma subunit", "testicular", "tissue", "li", "21", "testicular tissue", "tissue protein", "protein li", "li 21", "testicular tissue protein", "tissue protein li", "protein li 21", "testicular tissue protein li", "tissue protein li 21", "testicular tissue protein li 21" ] }, { "record_id": "MONDO:0859198", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859198", "0859198", "mim:619557", "619557" ] }, { "record_id": "MONDO:0859198", "record_type": "disease", "section": "disease_name", "phraselist": [ "short", "stature", "impaired", "intellectual", "development", "microcephaly", "hypotonia", "and", "ocular", "anomalies", "short stature", "impaired intellectual", "intellectual development", "and ocular", "ocular anomalies", "stature impaired", "impaired intellectual development", "development microcephaly", "microcephaly hypotonia", "hypotonia and", "and ocular anomalies", "short stature impaired", "stature impaired intellectual", "intellectual development microcephaly", "hypotonia and ocular", "short stature impaired intellectual", "stature impaired intellectual development", "impaired intellectual development microcephaly", "development microcephaly hypotonia", "microcephaly hypotonia and", "hypotonia and ocular anomalies" ] }, { "record_id": "MONDO:0859198", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859198", "record_type": "disease", "section": "proteins", "phraselist": [ "q9c0g0", "q9c0g0 1", "zn407_human", "np_001139661", "glycoprotein", "znf407", "kiaa1703", "simha" ] }, { "record_id": "MONDO:0859198", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "protein", "407", "zinc finger", "finger protein", "protein 407", "zinc finger protein", "finger protein 407", "zinc finger protein 407", "isoform", "407 isoform", "isoform 2", "protein 407 isoform", "407 isoform 2", "finger protein 407 isoform", "protein 407 isoform 2", "zinc finger protein 407 isoform", "finger protein 407 isoform 2" ] }, { "record_id": "MONDO:0859199", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859199", "0859199", "mim:619575", "619575" ] }, { "record_id": "MONDO:0859199", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "delay", "with", "or", "without", "intellectual", "impairment", "behavioral", "abnormalities", "developmental delay", "delay with", "with or", "or without", "without intellectual", "intellectual impairment", "impairment or", "or behavioral", "behavioral abnormalities", "developmental delay with", "delay with or", "with or without", "or without intellectual", "without intellectual impairment", "intellectual impairment or", "impairment or behavioral", "or behavioral abnormalities", "developmental delay with or", "delay with or without", "with or without intellectual", "or without intellectual impairment", "without intellectual impairment or", "intellectual impairment or behavioral", "impairment or behavioral abnormalities", "developmental delay with or without", "delay with or without intellectual", "with or without intellectual impairment", "or without intellectual impairment or", "without intellectual impairment or behavioral", "intellectual impairment or behavioral abnormalities" ] }, { "record_id": "MONDO:0859199", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859199", "record_type": "disease", "section": "proteins", "phraselist": [ "q7l7x3", "q7l7x3 1", "taok1_human", "np_065842", "glycoprotein", "taok1", "ddib", "kfc", "kfc b", "kiaa1361", "map3k16", "markk", "psk", "psk 2", "psk2", "tao1", "hkfc", "hkfc b", "htaok1" ] }, { "record_id": "MONDO:0859199", "record_type": "disease", "section": "proteins", "phraselist": [ "serine/threonine", "protein", "kinase", "tao1", "serine/threonine protein", "protein kinase", "kinase tao1", "serine/threonine protein kinase", "protein kinase tao1", "serine/threonine protein kinase tao1", "2.7.11.1", "from", "chicken", "homolog", "kinase from", "from chicken", "chicken homolog", "homolog b", "kinase from chicken", "from chicken homolog", "chicken homolog b", "kinase from chicken homolog", "from chicken homolog b", "kinase from chicken homolog b", "mark", "mark kinase", "markk", "psk", "psk 2", "psk2", "prostate", "derived", "ste20", "like", "prostate derived", "derived ste20", "ste20 like", "like kinase", "kinase 2", "prostate derived ste20", "derived ste20 like", "ste20 like kinase", "like kinase 2", "prostate derived ste20 like", "derived ste20 like kinase", "ste20 like kinase 2", "prostate derived ste20 like kinase", "derived ste20 like kinase 2", "sterile", "20", "derived sterile", "sterile 20", "20 like", "prostate derived sterile", "derived sterile 20", "sterile 20 like", "20 like kinase", "prostate derived sterile 20", "derived sterile 20 like", "sterile 20 like kinase", "20 like kinase 2", "prostate derived sterile 20 like", "derived sterile 20 like kinase", "sterile 20 like kinase 2", "kinase psk2", "like kinase psk2", "ste20 like kinase psk2", "taok1", "thousand", "and", "one", "amino", "acid", "thousand and", "and one", "one amino", "amino acid", "acid protein", "kinase 1", "thousand and one", "and one amino", "one amino acid", "amino acid protein", "acid protein kinase", "protein kinase 1", "thousand and one amino", "and one amino acid", "one amino acid protein", "amino acid protein kinase", "acid protein kinase 1", "thousand and one amino acid", "and one amino acid protein", "one amino acid protein kinase", "amino acid protein kinase 1", "hkfc", "hkfc b", "htaok1", "microtubule", "affinity", "regulating", "microtubule affinity", "affinity regulating", "regulating kinase", "kinase kinase", "microtubule affinity regulating", "affinity regulating kinase", "regulating kinase kinase", "microtubule affinity regulating kinase", "affinity regulating kinase kinase", "microtubule affinity regulating kinase kinase", "tao1 homolog", "kinase tao1 homolog", "protein kinase tao1 homolog", "serine/threonine protein kinase tao1 homolog", "isoform", "tao1 isoform", "isoform 1", "kinase tao1 isoform", "tao1 isoform 1", "protein kinase tao1 isoform", "kinase tao1 isoform 1", "serine/threonine protein kinase tao1 isoform", "protein kinase tao1 isoform 1", "protein 1", "acid protein 1", "amino acid protein 1", "one amino acid protein 1" ] }, { "record_id": "MONDO:0859200", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859200", "0859200", "mim:619576", "619576" ] }, { "record_id": "MONDO:0859200", "record_type": "disease", "section": "disease_name", "phraselist": [ "cerebellar", "ataxia", "brain", "abnormalities", "and", "cardiac", "conduction", "defects", "cerebellar ataxia", "brain abnormalities", "and cardiac", "cardiac conduction", "conduction defects", "ataxia brain", "abnormalities and", "and cardiac conduction", "cardiac conduction defects", "cerebellar ataxia brain", "ataxia brain abnormalities", "brain abnormalities and", "abnormalities and cardiac", "and cardiac conduction defects", "cerebellar ataxia brain abnormalities", "brain abnormalities and cardiac", "abnormalities and cardiac conduction", "neurodevelopmental", "delay", "hypotonia", "syndrome", "neurodevelopmental delay", "delay hypotonia", "hypotonia cerebellar", "ataxia cardiac", "defects syndrome", "neurodevelopmental delay hypotonia", "delay hypotonia cerebellar", "hypotonia cerebellar ataxia", "cerebellar ataxia cardiac", "ataxia cardiac conduction", "conduction defects syndrome", "neurodevelopmental delay hypotonia cerebellar", "delay hypotonia cerebellar ataxia", "hypotonia cerebellar ataxia cardiac", "cerebellar ataxia cardiac conduction", "ataxia cardiac conduction defects", "cardiac conduction defects syndrome", "neurodevelopmental delay hypotonia cerebellar ataxia", "delay hypotonia cerebellar ataxia cardiac", "hypotonia cerebellar ataxia cardiac conduction", "cerebellar ataxia cardiac conduction defects", "ataxia cardiac conduction defects syndrome" ] }, { "record_id": "MONDO:0859200", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859200", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nqt4", "q9nqt4 1", "exos5_human", "np_064543", "glycoprotein", "exosc5", "cabac", "cml28", "rrp41b", "rrp46", "rrp46p", "hrrp46p", "p12b" ] }, { "record_id": "MONDO:0859200", "record_type": "disease", "section": "proteins", "phraselist": [ "exosome", "complex", "component", "rrp46", "exosome complex", "complex component", "component rrp46", "exosome complex component", "complex component rrp46", "exosome complex component rrp46", "chronic", "myelogenous", "leukemia", "tumor", "antigen", "28", "chronic myelogenous", "myelogenous leukemia", "leukemia tumor", "tumor antigen", "antigen 28", "chronic myelogenous leukemia", "myelogenous leukemia tumor", "leukemia tumor antigen", "tumor antigen 28", "chronic myelogenous leukemia tumor", "myelogenous leukemia tumor antigen", "leukemia tumor antigen 28", "chronic myelogenous leukemia tumor antigen", "myelogenous leukemia tumor antigen 28", "exosome component", "component 5", "exosome component 5", "ribosomal", "rna", "processing", "protein", "46", "ribosomal rna", "rna processing", "processing protein", "protein 46", "ribosomal rna processing", "rna processing protein", "processing protein 46", "ribosomal rna processing protein", "rna processing protein 46", "ribosomal rna processing protein 46", "exonuclease", "complex exonuclease", "exonuclease rrp46", "exosome complex exonuclease", "complex exonuclease rrp46", "exosome complex exonuclease rrp46", "exosome component rrp46", "p12b" ] }, { "record_id": "MONDO:0859201", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859201", "0859201", "mim:619580", "619580" ] }, { "record_id": "MONDO:0859201", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "impaired", "language", "and", "ataxia", "or", "without", "seizures", "neurodevelopmental disorder", "disorder with", "with impaired", "impaired language", "language and", "and ataxia", "ataxia and", "and with", "with or", "or without", "without seizures", "neurodevelopmental disorder with", "disorder with impaired", "with impaired language", "impaired language and", "language and ataxia", "and ataxia and", "ataxia and with", "and with or", "with or without", "or without seizures", "neurodevelopmental disorder with impaired", "disorder with impaired language", "with impaired language and", "impaired language and ataxia", "language and ataxia and", "and ataxia and with", "ataxia and with or", "and with or without", "with or without seizures", "neurodevelopmental disorder with impaired language", "disorder with impaired language and", "with impaired language and ataxia", "impaired language and ataxia and", "language and ataxia and with", "and ataxia and with or", "ataxia and with or without", "and with or without seizures" ] }, { "record_id": "MONDO:0859201", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859201", "record_type": "disease", "section": "proteins", "phraselist": [ "q13002", "q13002 1", "grik2_human", "np_001159719", "glycoprotein", "grik2", "eaa4", "glr6", "gluk6", "glur6", "gluk2", "mrt6", "nedlas" ] }, { "record_id": "MONDO:0859201", "record_type": "disease", "section": "proteins", "phraselist": [ "glutamate", "receptor", "ionotropic", "kainate", "glutamate receptor", "receptor ionotropic", "kainate 2", "glutamate receptor ionotropic", "ionotropic kainate", "receptor ionotropic kainate", "ionotropic kainate 2", "glutamate receptor ionotropic kainate", "receptor ionotropic kainate 2", "eaa4", "excitatory", "amino", "acid", "excitatory amino", "amino acid", "acid receptor", "receptor 4", "excitatory amino acid", "amino acid receptor", "acid receptor 4", "excitatory amino acid receptor", "amino acid receptor 4", "excitatory amino acid receptor 4", "gluk2", "alt_5'utr", "gluk2 alt_5'utr", "glur", "glur 6", "glur6", "receptor 6", "glutamate receptor 6", "ba487f5.1", "form", "receptor form", "form a", "glutamate receptor form", "receptor form a", "glutamate receptor form a", "form b", "receptor form b", "glutamate receptor form b", "form c", "receptor form c", "glutamate receptor form c", "form d", "receptor form d", "glutamate receptor form d", "form e", "receptor form e", "glutamate receptor form e", "isoform", "precursor", "2 isoform", "isoform 3", "3 precursor", "kainate 2 isoform", "2 isoform 3", "isoform 3 precursor", "kainate 2 isoform 3", "2 isoform 3 precursor", "ionotropic kainate 2 isoform", "kainate 2 isoform 3 precursor", "putative", "nmdtranscript", "cassette_171nt", "putative nmdtranscript", "nmdtranscript cassette_171nt", "putative nmdtranscript cassette_171nt" ] }, { "record_id": "MONDO:0859202", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859202", "0859202", "mim:619595", "619595" ] }, { "record_id": "MONDO:0859202", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "delay", "hypotonia", "musculoskeletal", "defects", "and", "behavioral", "abnormalities", "developmental delay", "musculoskeletal defects", "and behavioral", "behavioral abnormalities", "delay hypotonia", "hypotonia musculoskeletal", "defects and", "and behavioral abnormalities", "developmental delay hypotonia", "hypotonia musculoskeletal defects", "musculoskeletal defects and", "defects and behavioral", "delay hypotonia musculoskeletal", "musculoskeletal defects and behavioral", "defects and behavioral abnormalities" ] }, { "record_id": "MONDO:0859202", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859202", "record_type": "disease", "section": "proteins", "phraselist": [ "q6zrs2", "q6zrs2 1", "srcap_human", "np_006653", "glycoprotein", "srcap", "dehmba", "domo1", "flhs", "kiaa0309", "swr1" ] }, { "record_id": "MONDO:0859202", "record_type": "disease", "section": "proteins", "phraselist": [ "chromatin", "remodeling", "protein", "srcap", "chromatin remodeling", "remodeling protein", "protein srcap", "chromatin remodeling protein", "remodeling protein srcap", "chromatin remodeling protein srcap", "3.6.4.", "domino", "homolog", "domino homolog", "homolog 2", "domino homolog 2", "snf2", "related", "cbp", "activator", "snf2 related", "related cbp", "cbp activator", "activator protein", "snf2 related cbp", "related cbp activator", "cbp activator protein", "snf2 related cbp activator", "related cbp activator protein", "snf2 related cbp activator protein", "swi2/snf2", "atpase", "swi2/snf2 related", "related atpase", "atpase homolog", "homolog 1", "swi2/snf2 related atpase", "related atpase homolog", "homolog domino", "domino homolog 1", "swi2/snf2 related atpase homolog", "atpase homolog domino", "homolog domino homolog", "related atpase homolog domino", "atpase homolog domino homolog", "homolog domino homolog 1", "helicase", "helicase srcap" ] }, { "record_id": "MONDO:0859203", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859203", "0859203", "mim:619598", "619598" ] }, { "record_id": "MONDO:0859203", "record_type": "disease", "section": "disease_name", "phraselist": [ "rhizomelic", "dysplasia", "ain", "naz", "type", "rhizomelic dysplasia", "ain naz", "naz type", "dysplasia ain", "ain naz type", "rhizomelic dysplasia ain", "dysplasia ain naz", "rhizomelic dysplasia ain naz", "dysplasia ain naz type" ] }, { "record_id": "MONDO:0859203", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859203", "record_type": "disease", "section": "proteins", "phraselist": [ "q96ek6", "q96ek6 1", "gna1_human", "np_932332", "glycoprotein", "gnpnat1", "gna1", "gnpnat", "gpnat1", "rhzdan" ] }, { "record_id": "MONDO:0859203", "record_type": "disease", "section": "proteins", "phraselist": [ "glucosamine", "phosphate", "acetyltransferase", "glucosamine 6", "6 phosphate", "phosphate n", "n acetyltransferase", "glucosamine 6 phosphate", "6 phosphate n", "phosphate n acetyltransferase", "glucosamine 6 phosphate n", "6 phosphate n acetyltransferase", "glucosamine 6 phosphate n acetyltransferase", "2.3.1.4", "phosphoglucosamine", "acetylase", "phosphoglucosamine acetylase", "transacetylase", "phosphoglucosamine transacetylase" ] }, { "record_id": "MONDO:0859204", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859204", "0859204", "mim:619602", "619602" ] }, { "record_id": "MONDO:0859204", "record_type": "disease", "section": "disease_name", "phraselist": [ "fetal", "akinesia", "respiratory", "insufficiency", "microcephaly", "polymicrogyria", "and", "dysmorphic", "facies", "fetal akinesia", "respiratory insufficiency", "and dysmorphic", "dysmorphic facies", "akinesia respiratory", "insufficiency microcephaly", "microcephaly polymicrogyria", "polymicrogyria and", "and dysmorphic facies", "fetal akinesia respiratory", "akinesia respiratory insufficiency", "respiratory insufficiency microcephaly", "polymicrogyria and dysmorphic", "fetal akinesia respiratory insufficiency", "insufficiency microcephaly polymicrogyria", "microcephaly polymicrogyria and", "polymicrogyria and dysmorphic facies" ] }, { "record_id": "MONDO:0859204", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859204", "record_type": "disease", "section": "proteins", "phraselist": [ "p50993", "p50993 1", "at1a2_human", "np_000693", "glycoprotein", "atp1a2", "dee98", "farimpd", "fhm2", "kiaa0778", "mhp2" ] }, { "record_id": "MONDO:0859204", "record_type": "disease", "section": "proteins", "phraselist": [ "sodium/potassium", "transporting", "atpase", "subunit", "alpha", "sodium/potassium transporting", "transporting atpase", "atpase subunit", "subunit alpha", "alpha 2", "sodium/potassium transporting atpase", "transporting atpase subunit", "atpase subunit alpha", "subunit alpha 2", "sodium/potassium transporting atpase subunit", "transporting atpase subunit alpha", "atpase subunit alpha 2", "sodium/potassium transporting atpase subunit alpha", "transporting atpase subunit alpha 2", "7.2.2.13", "na+/k+", "polypeptide", "atpase na+/k+", "na+/k+ transporting", "transporting alpha", "2 polypeptide", "atpase na+/k+ transporting", "na+/k+ transporting alpha", "transporting alpha 2", "alpha 2 polypeptide", "atpase na+/k+ transporting alpha", "na+/k+ transporting alpha 2", "transporting alpha 2 polypeptide", "atpase na+/k+ transporting alpha 2", "na+/k+ transporting alpha 2 polypeptide", "na", "/k", "na +", "+ /k", "/k +", "atpase alpha", "2 subunit", "na + /k", "+ /k +", "+ atpase", "atpase alpha 2", "alpha 2 subunit", "na + /k +", "/k + atpase", "+ atpase alpha", "atpase alpha 2 subunit", "+ /k + atpase", "/k + atpase alpha", "+ atpase alpha 2", "catalytic", "na+/k+ atpase", "alpha a", "a +", "catalytic polypeptide", "alpha a +", "+ catalytic", "na+/k+ atpase alpha", "atpase alpha a", "a + catalytic", "+ catalytic polypeptide", "na+/k+ atpase alpha a", "atpase alpha a +", "alpha a + catalytic", "a + catalytic polypeptide", "alpha b", "b polypeptide", "alpha b polypeptide", "atpase alpha b", "na+/k+ atpase alpha b", "atpase alpha b polypeptide", "sodium", "pump", "sodium pump", "pump subunit", "sodium pump subunit", "pump subunit alpha", "sodium pump subunit alpha", "pump subunit alpha 2", "sodium pump subunit alpha 2", "potassium", "sodium potassium", "potassium atpase", "atpase catalytic", "catalytic subunit", "sodium potassium atpase", "potassium atpase catalytic", "atpase catalytic subunit", "catalytic subunit alpha", "sodium potassium atpase catalytic", "potassium atpase catalytic subunit", "atpase catalytic subunit alpha", "catalytic subunit alpha 2", "sodium potassium atpase catalytic subunit", "potassium atpase catalytic subunit alpha", "atpase catalytic subunit alpha 2", "chain", "2 chain", "transporting atpase alpha", "alpha 2 chain", "sodium/potassium transporting atpase alpha", "transporting atpase alpha 2", "atpase alpha 2 chain", "sodium/potassium transporting atpase alpha 2", "transporting atpase alpha 2 chain", "precursor", "2 precursor", "alpha 2 precursor", "subunit alpha 2 precursor", "atpase subunit alpha 2 precursor" ] }, { "record_id": "MONDO:0859205", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859205", "0859205", "mim:619613", "619613" ] }, { "record_id": "MONDO:0859205", "record_type": "disease", "section": "disease_name", "phraselist": [ "delayed", "puberty", "self", "limited", "delayed puberty", "self limited", "puberty self", "delayed puberty self", "puberty self limited", "delayed puberty self limited" ] }, { "record_id": "MONDO:0859205", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859205", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bxb1", "q9bxb1 1", "lgr4_human", "np_001333361", "glycoprotein", "lgr4", "bnmd17", "dpsl", "gpr48" ] }, { "record_id": "MONDO:0859205", "record_type": "disease", "section": "proteins", "phraselist": [ "leucine", "rich", "repeat", "containing", "protein", "coupled", "receptor", "leucine rich", "rich repeat", "repeat containing", "containing g", "g protein", "protein coupled", "coupled receptor", "receptor 4", "leucine rich repeat", "rich repeat containing", "repeat containing g", "containing g protein", "g protein coupled", "protein coupled receptor", "coupled receptor 4", "leucine rich repeat containing", "rich repeat containing g", "repeat containing g protein", "containing g protein coupled", "g protein coupled receptor", "protein coupled receptor 4", "leucine rich repeat containing g", "rich repeat containing g protein", "repeat containing g protein coupled", "containing g protein coupled receptor", "g protein coupled receptor 4", "48", "receptor 48", "coupled receptor 48", "protein coupled receptor 48", "g protein coupled receptor 48", "isoform", "precursor", "4 isoform", "isoform 2", "2 precursor", "receptor 4 isoform", "4 isoform 2", "isoform 2 precursor", "coupled receptor 4 isoform", "receptor 4 isoform 2", "4 isoform 2 precursor", "protein coupled receptor 4 isoform", "coupled receptor 4 isoform 2", "receptor 4 isoform 2 precursor" ] }, { "record_id": "MONDO:0859206", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859206", "0859206", "mim:619616", "619616" ] }, { "record_id": "MONDO:0859206", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hearing", "loss", "and", "spasticity", "neurodevelopmental disorder", "disorder with", "with hearing", "hearing loss", "loss and", "and spasticity", "neurodevelopmental disorder with", "disorder with hearing", "with hearing loss", "hearing loss and", "loss and spasticity", "neurodevelopmental disorder with hearing", "disorder with hearing loss", "with hearing loss and", "hearing loss and spasticity", "neurodevelopmental disorder with hearing loss", "disorder with hearing loss and", "with hearing loss and spasticity" ] }, { "record_id": "MONDO:0859206", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859206", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bvq7", "q9bvq7 1", "afg2b_human", "np_001310569", "glycoprotein", "afg2b", "dfnb119", "nedhls", "spata5l1" ] }, { "record_id": "MONDO:0859206", "record_type": "disease", "section": "proteins", "phraselist": [ "atpase", "family", "gene", "protein", "homolog", "atpase family", "family gene", "gene 2", "2 protein", "protein homolog", "homolog b", "atpase family gene", "family gene 2", "gene 2 protein", "2 protein homolog", "protein homolog b", "atpase family gene 2", "family gene 2 protein", "gene 2 protein homolog", "2 protein homolog b", "atpase family gene 2 protein", "family gene 2 protein homolog", "gene 2 protein homolog b", "3.6.4.10", "afg2", "aaa", "afg2 aaa", "aaa atpase", "atpase homolog", "afg2 aaa atpase", "aaa atpase homolog", "atpase homolog b", "afg2 aaa atpase homolog", "aaa atpase homolog b", "afg2 aaa atpase homolog b", "isoform", "b isoform", "isoform 2", "homolog b isoform", "b isoform 2", "protein homolog b isoform", "homolog b isoform 2", "2 protein homolog b isoform", "protein homolog b isoform 2", "ribosome", "biogenesis", "spata5l1", "ribosome biogenesis", "biogenesis protein", "protein spata5l1", "ribosome biogenesis protein", "biogenesis protein spata5l1", "ribosome biogenesis protein spata5l1", "spermatogenesis", "associated", "like", "spermatogenesis associated", "associated protein", "protein 5", "5 like", "like protein", "protein 1", "spermatogenesis associated protein", "associated protein 5", "protein 5 like", "5 like protein", "like protein 1", "spermatogenesis associated protein 5", "associated protein 5 like", "protein 5 like protein", "5 like protein 1", "spermatogenesis associated protein 5 like", "associated protein 5 like protein", "protein 5 like protein 1", "associated 5", "like 1", "spermatogenesis associated 5", "associated 5 like", "5 like 1", "spermatogenesis associated 5 like", "associated 5 like 1", "spermatogenesis associated 5 like 1" ] }, { "record_id": "MONDO:0859207", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859207", "0859207", "mim:619639", "619639" ] }, { "record_id": "MONDO:0859207", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hypotonia", "and", "gross", "motor", "speech", "delay", "neurodevelopmental disorder", "disorder with", "with hypotonia", "hypotonia and", "and gross", "gross motor", "motor and", "and speech", "speech delay", "neurodevelopmental disorder with", "disorder with hypotonia", "with hypotonia and", "hypotonia and gross", "and gross motor", "gross motor and", "motor and speech", "and speech delay", "neurodevelopmental disorder with hypotonia", "disorder with hypotonia and", "with hypotonia and gross", "hypotonia and gross motor", "and gross motor and", "gross motor and speech", "motor and speech delay", "neurodevelopmental disorder with hypotonia and", "disorder with hypotonia and gross", "with hypotonia and gross motor", "hypotonia and gross motor and", "and gross motor and speech", "gross motor and speech delay" ] }, { "record_id": "MONDO:0859207", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859207", "record_type": "disease", "section": "proteins", "phraselist": [ "q14139", "q14139 1", "ube4a_human", "np_001191006", "glycoprotein", "ube4a", "e4", "kiaa0126", "nedhms", "ubox2", "ufd2" ] }, { "record_id": "MONDO:0859207", "record_type": "disease", "section": "proteins", "phraselist": [ "ubiquitin", "conjugation", "factor", "e4", "ubiquitin conjugation", "conjugation factor", "factor e4", "e4 a", "ubiquitin conjugation factor", "conjugation factor e4", "factor e4 a", "ubiquitin conjugation factor e4", "conjugation factor e4 a", "ubiquitin conjugation factor e4 a", "2.3.2.27", "ring", "type", "e3", "transferase", "ring type", "type e3", "e3 ubiquitin", "ubiquitin transferase", "transferase e4", "ring type e3", "type e3 ubiquitin", "e3 ubiquitin transferase", "ubiquitin transferase e4", "transferase e4 a", "ring type e3 ubiquitin", "type e3 ubiquitin transferase", "e3 ubiquitin transferase e4", "ubiquitin transferase e4 a", "ring type e3 ubiquitin transferase", "type e3 ubiquitin transferase e4", "e3 ubiquitin transferase e4 a", "isoform", "a isoform", "isoform 2", "e4 a isoform", "a isoform 2", "factor e4 a isoform", "e4 a isoform 2", "conjugation factor e4 a isoform", "factor e4 a isoform 2", "ubiquitination", "e4a", "ufd2", "homolog", "yeast", "ubiquitination factor", "factor e4a", "ufd2 homolog", "ubiquitination factor e4a", "e4a ufd2", "homolog yeast", "factor e4a ufd2", "e4a ufd2 homolog", "ufd2 homolog yeast", "ubiquitination factor e4a ufd2", "factor e4a ufd2 homolog" ] }, { "record_id": "MONDO:0859211", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859211", "0859211", "mim:619651", "619651" ] }, { "record_id": "MONDO:0859211", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hyperkinetic", "movements", "and", "dyskinesia", "neurodevelopmental disorder", "disorder with", "with hyperkinetic", "hyperkinetic movements", "movements and", "and dyskinesia", "neurodevelopmental disorder with", "disorder with hyperkinetic", "with hyperkinetic movements", "hyperkinetic movements and", "movements and dyskinesia", "neurodevelopmental disorder with hyperkinetic", "disorder with hyperkinetic movements", "with hyperkinetic movements and", "hyperkinetic movements and dyskinesia", "neurodevelopmental disorder with hyperkinetic movements", "disorder with hyperkinetic movements and", "with hyperkinetic movements and dyskinesia" ] }, { "record_id": "MONDO:0859211", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859211", "record_type": "disease", "section": "proteins", "phraselist": [ "o95622", "o95622 1", "adcy5_human", "np_001186571", "glycoprotein", "adcy5", "ac5", "dskod", "fdfm" ] }, { "record_id": "MONDO:0859211", "record_type": "disease", "section": "proteins", "phraselist": [ "adenylate", "cyclase", "type", "adenylate cyclase", "cyclase type", "type 5", "adenylate cyclase type", "cyclase type 5", "adenylate cyclase type 5", "4.6.1.1", "ac5", "atp", "pyrophosphate", "lyase", "atp pyrophosphate", "pyrophosphate lyase", "lyase 5", "atp pyrophosphate lyase", "pyrophosphate lyase 5", "atp pyrophosphate lyase 5", "type v", "cyclase type v", "adenylate cyclase type v", "adenylyl", "adenylyl cyclase", "cyclase 5", "adenylyl cyclase 5", "isoform", "5 isoform", "isoform 2", "type 5 isoform", "5 isoform 2", "cyclase type 5 isoform", "type 5 isoform 2", "adenylate cyclase type 5 isoform", "cyclase type 5 isoform 2", "epididymis", "secretory", "sperm", "binding", "protein", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein" ] }, { "record_id": "MONDO:0859212", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859212", "0859212", "mim:619653", "619653" ] }, { "record_id": "MONDO:0859212", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "nonprogressive", "with", "spasticity", "and", "transient", "opisthotonus", "neurodevelopmental disorder", "with spasticity", "spasticity and", "and transient", "transient opisthotonus", "disorder nonprogressive", "nonprogressive with", "with spasticity and", "spasticity and transient", "and transient opisthotonus", "neurodevelopmental disorder nonprogressive", "nonprogressive with spasticity", "with spasticity and transient", "spasticity and transient opisthotonus", "disorder nonprogressive with", "nonprogressive with spasticity and", "with spasticity and transient opisthotonus", "non", "progressive", "non progressive", "disorder non", "progressive with", "neurodevelopmental disorder non", "disorder non progressive", "non progressive with", "progressive with spasticity", "neurodevelopmental disorder non progressive", "non progressive with spasticity", "progressive with spasticity and" ] }, { "record_id": "MONDO:0859212", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859212", "record_type": "disease", "section": "proteins", "phraselist": [ "q92752", "q92752 1", "tenr_human", "np_003276", "glycoprotein", "tnr", "nedsto", "tn", "tn r" ] }, { "record_id": "MONDO:0859212", "record_type": "disease", "section": "proteins", "phraselist": [ "tenascin", "tenascin r", "janusin", "restrictin", "tn", "tn r", "isoform", "precursor", "r isoform", "isoform 1", "1 precursor", "tenascin r isoform", "r isoform 1", "isoform 1 precursor", "tenascin r isoform 1", "r isoform 1 precursor", "tenascin r isoform 1 precursor" ] }, { "record_id": "MONDO:0859213", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859213", "0859213", "mim:619657", "619657" ] }, { "record_id": "MONDO:0859213", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "heart", "defects", "multiple", "types", "with", "or", "without", "heterotaxy", "congenital heart", "heart defects", "multiple types", "with or", "or without", "without heterotaxy", "congenital heart defects", "defects multiple", "types 8", "8 with", "with or without", "or without heterotaxy", "heart defects multiple", "defects multiple types", "multiple types 8", "8 with or", "with or without heterotaxy", "congenital heart defects multiple", "heart defects multiple types", "types 8 with", "8 with or without" ] }, { "record_id": "MONDO:0859213", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859213", "record_type": "disease", "section": "proteins", "phraselist": [ "q15796", "q15796 1", "smad2_human", "np_001003652", "glycoprotein", "smad2", "chtd8", "jv18", "jv18 1", "lds6", "madh2", "madr2", "hmad", "hmad 2", "hsmad2" ] }, { "record_id": "MONDO:0859213", "record_type": "disease", "section": "proteins", "phraselist": [ "smad", "family", "member", "smad family", "family member", "member 2", "smad family member", "family member 2", "smad family member 2", "jv18", "jv18 1", "mad", "homolog", "mad homolog", "homolog 2", "mad homolog 2", "related", "protein", "mad related", "related protein", "protein 2", "mad related protein", "related protein 2", "mad related protein 2", "mothers", "against", "dpp", "mothers against", "against dpp", "dpp homolog", "mothers against dpp", "against dpp homolog", "dpp homolog 2", "mothers against dpp homolog", "against dpp homolog 2", "mothers against dpp homolog 2", "decapentaplegic", "against decapentaplegic", "decapentaplegic homolog", "mothers against decapentaplegic", "against decapentaplegic homolog", "decapentaplegic homolog 2", "mothers against decapentaplegic homolog", "against decapentaplegic homolog 2", "mothers against decapentaplegic homolog 2", "smad 2", "isoform", "2 isoform", "isoform 1", "member 2 isoform", "2 isoform 1", "family member 2 isoform", "member 2 isoform 1", "smad family member 2 isoform", "family member 2 isoform 1", "smad mothers", "smad mothers against", "smad mothers against dpp", "sma", "and", "and mad", "sma and", "and mad related", "sma and mad", "and mad related protein", "sma and mad related", "and mad related protein 2", "hmad", "hmad 2", "hsmad2", "mother", "mother against", "mother against dpp", "mother against dpp homolog", "mother against dpp homolog 2" ] }, { "record_id": "MONDO:0859214", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859214", "0859214", "mim:619680", "619680" ] }, { "record_id": "MONDO:0859214", "record_type": "disease", "section": "disease_name", "phraselist": [ "marbach", "schaaf", "neurodevelopmental", "syndrome", "marbach schaaf", "schaaf neurodevelopmental", "neurodevelopmental syndrome", "marbach schaaf neurodevelopmental", "schaaf neurodevelopmental syndrome", "marbach schaaf neurodevelopmental syndrome" ] }, { "record_id": "MONDO:0859214", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859214", "record_type": "disease", "section": "proteins", "phraselist": [ "p31321", "p31321 1", "kap1_human", "np_001158230", "glycoprotein", "prkar1b", "masns", "prkar1" ] }, { "record_id": "MONDO:0859214", "record_type": "disease", "section": "proteins", "phraselist": [ "camp", "dependent", "protein", "kinase", "type", "beta", "regulatory", "subunit", "camp dependent", "dependent protein", "protein kinase", "kinase type", "type i", "i beta", "beta regulatory", "regulatory subunit", "camp dependent protein", "dependent protein kinase", "protein kinase type", "kinase type i", "type i beta", "i beta regulatory", "beta regulatory subunit", "camp dependent protein kinase", "dependent protein kinase type", "protein kinase type i", "kinase type i beta", "type i beta regulatory", "i beta regulatory subunit", "camp dependent protein kinase type", "dependent protein kinase type i", "protein kinase type i beta", "kinase type i beta regulatory", "type i beta regulatory subunit", "subunit type", "kinase camp", "dependent regulatory", "regulatory subunit type", "subunit type i", "protein kinase camp", "kinase camp dependent", "camp dependent regulatory", "dependent regulatory subunit", "regulatory subunit type i", "subunit type i beta", "protein kinase camp dependent", "camp dependent regulatory subunit", "dependent regulatory subunit type", "regulatory subunit type i beta", "regulatory type", "regulatory type i", "dependent regulatory type" ] }, { "record_id": "MONDO:0859216", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859216", "0859216", "mim:619685", "619685" ] }, { "record_id": "MONDO:0859216", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "seizures", "and", "neonatal", "cholestasis", "neurodevelopmental disorder", "disorder with", "with microcephaly", "and neonatal", "neonatal cholestasis", "neurodevelopmental disorder with", "disorder with microcephaly", "microcephaly seizures", "seizures and", "and neonatal cholestasis", "neurodevelopmental disorder with microcephaly", "with microcephaly seizures", "seizures and neonatal", "disorder with microcephaly seizures", "microcephaly seizures and", "seizures and neonatal cholestasis" ] }, { "record_id": "MONDO:0859216", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859216", "record_type": "disease", "section": "proteins", "phraselist": [ "q96jg6", "q96jg6 1", "vps50_human", "np_001244927", "glycoprotein", "vps50", "ccdc132", "kiaa1861", "nedmsc", "vps54l" ] }, { "record_id": "MONDO:0859216", "record_type": "disease", "section": "proteins", "phraselist": [ "syndetin", "coiled", "coil", "domain", "containing", "protein", "132", "coiled coil", "coil domain", "domain containing", "containing protein", "protein 132", "coiled coil domain", "coil domain containing", "domain containing protein", "containing protein 132", "coiled coil domain containing", "coil domain containing protein", "domain containing protein 132", "coiled coil domain containing protein", "coil domain containing protein 132", "earp/garpii", "complex", "subunit", "vps50", "earp/garpii complex", "complex subunit", "subunit vps50", "earp/garpii complex subunit", "complex subunit vps50", "earp/garpii complex subunit vps50", "vps50 earp/garpii", "vps50 earp/garpii complex", "vps50 earp/garpii complex subunit", "containing 132", "domain containing 132", "coil domain containing 132", "coiled coil domain containing 132", "isoform", "syndetin isoform", "isoform c", "syndetin isoform c" ] }, { "record_id": "MONDO:0859218", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859218", "0859218", "mim:619694", "619694" ] }, { "record_id": "MONDO:0859218", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "delay", "with", "variable", "neurologic", "and", "brain", "abnormalities", "developmental delay", "delay with", "with variable", "variable neurologic", "neurologic and", "and brain", "brain abnormalities", "developmental delay with", "delay with variable", "with variable neurologic", "variable neurologic and", "neurologic and brain", "and brain abnormalities", "developmental delay with variable", "delay with variable neurologic", "with variable neurologic and", "variable neurologic and brain", "neurologic and brain abnormalities", "developmental delay with variable neurologic", "delay with variable neurologic and", "with variable neurologic and brain", "variable neurologic and brain abnormalities" ] }, { "record_id": "MONDO:0859218", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859218", "record_type": "disease", "section": "proteins", "phraselist": [ "q68dh5", "q68dh5 1", "lmbd2_human", "np_001007528", "glycoprotein", "lmbrd2", "denba" ] }, { "record_id": "MONDO:0859218", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "coupled", "receptor", "associated", "lmbrd2", "g protein", "protein coupled", "coupled receptor", "receptor associated", "associated protein", "protein lmbrd2", "g protein coupled", "protein coupled receptor", "coupled receptor associated", "receptor associated protein", "associated protein lmbrd2", "g protein coupled receptor", "protein coupled receptor associated", "coupled receptor associated protein", "receptor associated protein lmbrd2", "g protein coupled receptor associated", "protein coupled receptor associated protein", "coupled receptor associated protein lmbrd2", "lmbr1", "domain", "containing", "lmbr1 domain", "domain containing", "containing protein", "protein 2", "lmbr1 domain containing", "domain containing protein", "containing protein 2", "lmbr1 domain containing protein", "domain containing protein 2", "lmbr1 domain containing protein 2" ] }, { "record_id": "MONDO:0859219", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859219", "0859219", "mim:619695", "619695" ] }, { "record_id": "MONDO:0859219", "record_type": "disease", "section": "disease_name", "phraselist": [ "rauch", "steindl", "syndrome", "rauch steindl", "steindl syndrome", "rauch steindl syndrome" ] }, { "record_id": "MONDO:0859219", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859219", "record_type": "disease", "section": "proteins", "phraselist": [ "o96028", "o96028 1", "nsd2_human", "np_001035889", "glycoprotein", "nsd2", "kiaa1090", "kmt3f", "kmt3g", "mmset", "raust", "reiibp", "trx5", "whsc1", "whs" ] }, { "record_id": "MONDO:0859219", "record_type": "disease", "section": "proteins", "phraselist": [ "histone", "lysine", "methyltransferase", "nsd2", "histone lysine", "lysine n", "n methyltransferase", "methyltransferase nsd2", "histone lysine n", "lysine n methyltransferase", "n methyltransferase nsd2", "histone lysine n methyltransferase", "lysine n methyltransferase nsd2", "histone lysine n methyltransferase nsd2", "2.1.1.357", "il5", "promoter", "reii", "region", "binding", "protein", "il5 promoter", "promoter reii", "reii region", "region binding", "binding protein", "il5 promoter reii", "promoter reii region", "reii region binding", "region binding protein", "il5 promoter reii region", "promoter reii region binding", "reii region binding protein", "il5 promoter reii region binding", "promoter reii region binding protein", "mmset", "multiple", "myeloma", "set", "domain", "containing", "multiple myeloma", "myeloma set", "set domain", "domain containing", "containing protein", "multiple myeloma set", "myeloma set domain", "set domain containing", "domain containing protein", "multiple myeloma set domain", "myeloma set domain containing", "set domain containing protein", "multiple myeloma set domain containing", "myeloma set domain containing protein", "nuclear", "nuclear set", "protein 2", "nuclear set domain", "containing protein 2", "nuclear set domain containing", "domain containing protein 2", "nuclear set domain containing protein", "set domain containing protein 2", "trithorax", "protein trithorax", "trithorax 5", "protein trithorax 5", "wolf", "hirschhorn", "syndrome", "candidate", "wolf hirschhorn", "hirschhorn syndrome", "syndrome candidate", "candidate 1", "1 protein", "wolf hirschhorn syndrome", "hirschhorn syndrome candidate", "syndrome candidate 1", "candidate 1 protein", "wolf hirschhorn syndrome candidate", "hirschhorn syndrome candidate 1", "syndrome candidate 1 protein", "wolf hirschhorn syndrome candidate 1", "hirschhorn syndrome candidate 1 protein", "isoform", "nsd2 isoform", "isoform 1", "methyltransferase nsd2 isoform", "nsd2 isoform 1", "n methyltransferase nsd2 isoform", "methyltransferase nsd2 isoform 1", "lysine n methyltransferase nsd2 isoform", "n methyltransferase nsd2 isoform 1", "type", "iii", "protein type", "type iii", "containing protein type", "protein type iii", "domain containing protein type", "containing protein type iii", "set domain containing protein type", "domain containing protein type iii", "probable", "probable histone", "probable histone lysine", "probable histone lysine n", "probable histone lysine n methyltransferase", "trithorax/ash1", "related", "trithorax/ash1 related", "related protein", "protein 5", "trithorax/ash1 related protein", "related protein 5", "trithorax/ash1 related protein 5" ] }, { "record_id": "MONDO:0859223", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859223", "0859223", "mim:619714", "619714" ] }, { "record_id": "MONDO:0859223", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "disorder", "of", "glycosylation", "type", "iw", "autosomal", "dominant", "congenital disorder", "disorder of", "of glycosylation", "type iw", "autosomal dominant", "congenital disorder of", "disorder of glycosylation", "glycosylation type", "iw autosomal", "congenital disorder of glycosylation", "of glycosylation type", "glycosylation type iw", "type iw autosomal", "iw autosomal dominant", "disorder of glycosylation type", "of glycosylation type iw", "type iw autosomal dominant", "1w", "glycosylation 1w", "of glycosylation 1w", "1w autosomal", "disorder of glycosylation 1w", "glycosylation 1w autosomal", "1w autosomal dominant", "congenital disorder of glycosylation 1w", "of glycosylation 1w autosomal", "glycosylation 1w autosomal dominant" ] }, { "record_id": "MONDO:0859223", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859223", "record_type": "disease", "section": "proteins", "phraselist": [ "p46977", "p46977 1", "stt3a_human", "np_001265432", "glycoprotein", "stt3a", "cdg1wad", "cdg1war", "itm1", "stt3", "stt3 a", "tmc" ] }, { "record_id": "MONDO:0859223", "record_type": "disease", "section": "proteins", "phraselist": [ "dolichyl", "diphosphooligosaccharide", "protein", "glycosyltransferase", "subunit", "stt3a", "dolichyl diphosphooligosaccharide", "protein glycosyltransferase", "glycosyltransferase subunit", "subunit stt3a", "diphosphooligosaccharide protein", "protein glycosyltransferase subunit", "glycosyltransferase subunit stt3a", "dolichyl diphosphooligosaccharide protein", "diphosphooligosaccharide protein glycosyltransferase", "protein glycosyltransferase subunit stt3a", "dolichyl diphosphooligosaccharide protein glycosyltransferase", "diphosphooligosaccharide protein glycosyltransferase subunit", "2.4.99.18", "b5", "integral", "membrane", "integral membrane", "membrane protein", "protein 1", "integral membrane protein", "membrane protein 1", "integral membrane protein 1", "oligosaccharyl", "transferase", "oligosaccharyl transferase", "transferase subunit", "oligosaccharyl transferase subunit", "transferase subunit stt3a", "oligosaccharyl transferase subunit stt3a", "stt3", "of", "the", "oligosaccharyltransferase", "complex", "homolog", "subunit of", "of the", "the oligosaccharyltransferase", "oligosaccharyltransferase complex", "homolog a", "stt3 subunit", "subunit of the", "of the oligosaccharyltransferase", "the oligosaccharyltransferase complex", "complex homolog", "stt3 subunit of", "subunit of the oligosaccharyltransferase", "of the oligosaccharyltransferase complex", "oligosaccharyltransferase complex homolog", "complex homolog a", "stt3 subunit of the", "subunit of the oligosaccharyltransferase complex", "the oligosaccharyltransferase complex homolog", "oligosaccharyltransferase complex homolog a", "stt3 a", "catalytic", "catalytic subunit", "stt3a catalytic", "catalytic subunit of", "stt3a catalytic subunit", "catalytic subunit of the", "stt3a catalytic subunit of", "catalytic subunit of the oligosaccharyltransferase", "stt3a subunit", "complex catalytic", "stt3a subunit of", "oligosaccharyltransferase complex catalytic", "stt3a subunit of the", "the oligosaccharyltransferase complex catalytic", "transmembrane", "tmc", "transmembrane protein", "protein tmc", "transmembrane protein tmc", "glycotransferase", "protein glycotransferase", "diphosphooligosaccharide protein glycotransferase", "dolichyl diphosphooligosaccharide protein glycotransferase", "isoform", "stt3a isoform", "isoform a", "subunit stt3a isoform", "stt3a isoform a", "glycosyltransferase subunit stt3a isoform", "subunit stt3a isoform a", "protein glycosyltransferase subunit stt3a isoform", "glycosyltransferase subunit stt3a isoform a", "integral transmembrane", "integral transmembrane protein", "transmembrane protein 1", "integral transmembrane protein 1", "conserved", "transmembrane conserved" ] }, { "record_id": "MONDO:0859225", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859225", "0859225", "mim:619725", "619725" ] }, { "record_id": "MONDO:0859225", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "or", "without", "variable", "movement", "behavioral", "abnormalities", "neurodevelopmental disorder", "disorder with", "with or", "or without", "without variable", "variable movement", "movement or", "or behavioral", "behavioral abnormalities", "neurodevelopmental disorder with", "disorder with or", "with or without", "or without variable", "without variable movement", "variable movement or", "movement or behavioral", "or behavioral abnormalities", "neurodevelopmental disorder with or", "disorder with or without", "with or without variable", "or without variable movement", "without variable movement or", "variable movement or behavioral", "movement or behavioral abnormalities", "neurodevelopmental disorder with or without", "disorder with or without variable", "with or without variable movement", "or without variable movement or", "without variable movement or behavioral", "variable movement or behavioral abnormalities" ] }, { "record_id": "MONDO:0859225", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859225", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h2s1", "q9h2s1 1", "kcnn2_human", "np_740721", "kcnn2", "dyt34", "kca2.2", "nedmab", "sk2", "skca2", "skca", "skca 2", "hsk2" ] }, { "record_id": "MONDO:0859225", "record_type": "disease", "section": "proteins", "phraselist": [ "small", "conductance", "calcium", "activated", "potassium", "channel", "protein", "small conductance", "conductance calcium", "calcium activated", "activated potassium", "potassium channel", "channel protein", "protein 2", "small conductance calcium", "conductance calcium activated", "calcium activated potassium", "activated potassium channel", "potassium channel protein", "channel protein 2", "small conductance calcium activated", "conductance calcium activated potassium", "calcium activated potassium channel", "activated potassium channel protein", "potassium channel protein 2", "small conductance calcium activated potassium", "conductance calcium activated potassium channel", "calcium activated potassium channel protein", "activated potassium channel protein 2", "kca2.2", "sk2", "skca", "skca 2", "skca2", "apamin", "sensitive", "ca2+", "apamin sensitive", "sensitive small", "conductance ca2+", "ca2+ activated", "apamin sensitive small", "sensitive small conductance", "small conductance ca2+", "conductance ca2+ activated", "ca2+ activated potassium", "apamin sensitive small conductance", "sensitive small conductance ca2+", "small conductance ca2+ activated", "conductance ca2+ activated potassium", "ca2+ activated potassium channel", "apamin sensitive small conductance ca2+", "sensitive small conductance ca2+ activated", "small conductance ca2+ activated potassium", "conductance ca2+ activated potassium channel", "intermediate/small", "subfamily", "alpha", "member", "activated intermediate/small", "intermediate/small conductance", "conductance subfamily", "subfamily n", "n alpha", "member 2", "channel calcium", "calcium activated intermediate/small", "activated intermediate/small conductance", "intermediate/small conductance subfamily", "conductance subfamily n", "subfamily n alpha", "alpha member", "potassium channel calcium", "channel calcium activated", "calcium activated intermediate/small conductance", "activated intermediate/small conductance subfamily", "intermediate/small conductance subfamily n", "conductance subfamily n alpha", "n alpha member", "alpha member 2", "potassium channel calcium activated", "channel calcium activated intermediate/small", "calcium activated intermediate/small conductance subfamily", "activated intermediate/small conductance subfamily n", "intermediate/small conductance subfamily n alpha", "subfamily n alpha member", "n alpha member 2", "potassium intermediate/small", "activated channel", "potassium intermediate/small conductance", "intermediate/small conductance calcium", "calcium activated channel", "channel subfamily", "n member", "potassium intermediate/small conductance calcium", "intermediate/small conductance calcium activated", "conductance calcium activated channel", "activated channel subfamily", "channel subfamily n", "subfamily n member", "n member 2", "potassium intermediate/small conductance calcium activated", "intermediate/small conductance calcium activated channel", "calcium activated channel subfamily", "activated channel subfamily n", "subfamily n member 2", "channel 2", "potassium channel 2", "activated potassium channel 2", "calcium activated potassium channel 2", "isoform", "2 isoform", "isoform b", "protein 2 isoform", "2 isoform b", "channel protein 2 isoform", "protein 2 isoform b", "potassium channel protein 2 isoform", "channel protein 2 isoform b" ] }, { "record_id": "MONDO:0859229", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859229", "0859229", "mim:619761", "619761" ] }, { "record_id": "MONDO:0859229", "record_type": "disease", "section": "disease_name", "phraselist": [ "cerebellar", "dysfunction", "impaired", "intellectual", "development", "and", "hypogonadotropic", "hypogonadism", "cerebellar dysfunction", "impaired intellectual", "intellectual development", "and hypogonadotropic", "hypogonadotropic hypogonadism", "dysfunction impaired", "impaired intellectual development", "development and", "and hypogonadotropic hypogonadism", "cerebellar dysfunction impaired", "dysfunction impaired intellectual", "intellectual development and", "development and hypogonadotropic", "cerebellar dysfunction impaired intellectual", "dysfunction impaired intellectual development", "impaired intellectual development and", "intellectual development and hypogonadotropic", "development and hypogonadotropic hypogonadism" ] }, { "record_id": "MONDO:0859229", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859229", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h4q3", "q9h4q3 1", "prd13_human", "np_067633", "glycoprotein", "prdm13", "cdidhh", "mu", "mb", "20.220", "mu mb", "mb 20.220", "mu mb 20.220", "pch17", "pfm10" ] }, { "record_id": "MONDO:0859229", "record_type": "disease", "section": "proteins", "phraselist": [ "pr", "domain", "zinc", "finger", "protein", "13", "pr domain", "domain zinc", "zinc finger", "finger protein", "protein 13", "pr domain zinc", "domain zinc finger", "zinc finger protein", "finger protein 13", "pr domain zinc finger", "domain zinc finger protein", "zinc finger protein 13", "pr domain zinc finger protein", "domain zinc finger protein 13", "2.1.1.", "domain 13", "pr domain 13", "containing", "domain containing", "containing 13", "pr domain containing", "domain containing 13", "pr domain containing 13", "containing protein", "domain containing protein", "containing protein 13", "pr domain containing protein", "domain containing protein 13", "pr domain containing protein 13" ] }, { "record_id": "MONDO:0859230", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859230", "0859230", "mim:619762", "619762" ] }, { "record_id": "MONDO:0859230", "record_type": "disease", "section": "disease_name", "phraselist": [ "kury", "isidor", "syndrome", "kury isidor", "isidor syndrome", "kury isidor syndrome" ] }, { "record_id": "MONDO:0859230", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859230", "record_type": "disease", "section": "proteins", "phraselist": [ "q92560", "q92560 1", "bap1_human", "np_004647", "glycoprotein", "bap1", "hucep", "13", "hucep 13", "kiaa0272", "kuris", "tpds1", "ubm2", "uchl2", "uvm2", "hucep 6" ] }, { "record_id": "MONDO:0859230", "record_type": "disease", "section": "proteins", "phraselist": [ "ubiquitin", "carboxyl", "terminal", "hydrolase", "bap1", "ubiquitin carboxyl", "carboxyl terminal", "terminal hydrolase", "hydrolase bap1", "ubiquitin carboxyl terminal", "carboxyl terminal hydrolase", "terminal hydrolase bap1", "ubiquitin carboxyl terminal hydrolase", "carboxyl terminal hydrolase bap1", "ubiquitin carboxyl terminal hydrolase bap1", "3.4.19.12", "brca1", "associated", "protein", "brca1 associated", "associated protein", "protein 1", "brca1 associated protein", "associated protein 1", "brca1 associated protein 1", "carboxy", "ubiquitin carboxy", "carboxy terminal", "1 ubiquitin", "ubiquitin carboxy terminal", "carboxy terminal hydrolase", "protein 1 ubiquitin", "1 ubiquitin carboxy", "ubiquitin carboxy terminal hydrolase", "associated protein 1 ubiquitin", "protein 1 ubiquitin carboxy", "1 ubiquitin carboxy terminal", "cerebral", "cerebral protein", "protein 6", "cerebral protein 6", "13", "protein 13", "cerebral protein 13", "l2", "hydrolase l2", "terminal hydrolase l2", "carboxy terminal hydrolase l2", "ubiquitin carboxy terminal hydrolase l2", "isoform", "bap1 isoform", "isoform 1", "hydrolase bap1 isoform", "bap1 isoform 1", "terminal hydrolase bap1 isoform", "hydrolase bap1 isoform 1", "carboxyl terminal hydrolase bap1 isoform", "terminal hydrolase bap1 isoform 1" ] }, { "record_id": "MONDO:0859231", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859231", "0859231", "mim:619769", "619769" ] }, { "record_id": "MONDO:0859231", "record_type": "disease", "section": "disease_name", "phraselist": [ "macrocephaly", "neurodevelopmental", "delay", "lymphoid", "hyperplasia", "and", "persistent", "fetal", "hemoglobin", "neurodevelopmental delay", "lymphoid hyperplasia", "and persistent", "persistent fetal", "fetal hemoglobin", "macrocephaly neurodevelopmental", "delay lymphoid", "hyperplasia and", "and persistent fetal", "persistent fetal hemoglobin", "macrocephaly neurodevelopmental delay", "neurodevelopmental delay lymphoid", "delay lymphoid hyperplasia", "lymphoid hyperplasia and", "hyperplasia and persistent", "and persistent fetal hemoglobin", "neurodevelopmental delay lymphoid hyperplasia", "lymphoid hyperplasia and persistent", "hyperplasia and persistent fetal" ] }, { "record_id": "MONDO:0859231", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859231", "record_type": "disease", "section": "proteins", "phraselist": [ "o95365", "o95365 1", "zbt7a_human", "np_001304919", "glycoprotein", "zbtb7a", "fbi", "fbi 1", "fbi1", "lrf", "mndlfh", "tip21", "zbtb7", "znf857a", "pokemon" ] }, { "record_id": "MONDO:0859231", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "and", "btb", "domain", "containing", "protein", "7a", "zinc finger", "finger and", "and btb", "btb domain", "domain containing", "containing protein", "protein 7a", "zinc finger and", "finger and btb", "and btb domain", "btb domain containing", "domain containing protein", "containing protein 7a", "zinc finger and btb", "finger and btb domain", "and btb domain containing", "btb domain containing protein", "domain containing protein 7a", "zinc finger and btb domain", "finger and btb domain containing", "and btb domain containing protein", "btb domain containing protein 7a", "fbi", "fbi 1", "factor", "binding", "ist", "factor binding", "binding ist", "ist protein", "protein 1", "factor binding ist", "binding ist protein", "ist protein 1", "factor binding ist protein", "binding ist protein 1", "factor binding ist protein 1", "that", "binds", "to", "inducer", "of", "short", "transcripts", "factor that", "that binds", "binds to", "to inducer", "inducer of", "of short", "short transcripts", "transcripts protein", "factor that binds", "that binds to", "binds to inducer", "to inducer of", "inducer of short", "of short transcripts", "short transcripts protein", "transcripts protein 1", "factor that binds to", "that binds to inducer", "binds to inducer of", "to inducer of short", "inducer of short transcripts", "of short transcripts protein", "short transcripts protein 1", "factor that binds to inducer", "that binds to inducer of", "binds to inducer of short", "to inducer of short transcripts", "inducer of short transcripts protein", "of short transcripts protein 1", "hiv", "1st", "hiv 1", "1 1st", "1st binding", "binding protein", "hiv 1 1st", "1 1st binding", "1st binding protein", "binding protein 1", "hiv 1 1st binding", "1 1st binding protein", "1st binding protein 1", "hiv 1 1st binding protein", "1 1st binding protein 1", "leukemia/lymphoma", "related", "leukemia/lymphoma related", "related factor", "leukemia/lymphoma related factor", "pok", "erythroid", "myeloid", "ontogenic", "pok erythroid", "erythroid myeloid", "myeloid ontogenic", "ontogenic factor", "pok erythroid myeloid", "erythroid myeloid ontogenic", "myeloid ontogenic factor", "pok erythroid myeloid ontogenic", "erythroid myeloid ontogenic factor", "pok erythroid myeloid ontogenic factor", "poz", "krueppel", "poz and", "and krueppel", "krueppel erythroid", "poz and krueppel", "and krueppel erythroid", "krueppel erythroid myeloid", "poz and krueppel erythroid", "and krueppel erythroid myeloid", "krueppel erythroid myeloid ontogenic", "poz and krueppel erythroid myeloid", "and krueppel erythroid myeloid ontogenic", "krueppel erythroid myeloid ontogenic factor", "pokemon", "pokemon 1", "tip21", "ttf", "interacting", "peptide", "21", "ttf i", "i interacting", "interacting peptide", "peptide 21", "ttf i interacting", "i interacting peptide", "interacting peptide 21", "ttf i interacting peptide", "i interacting peptide 21", "ttf i interacting peptide 21", "857a", "finger protein", "protein 857a", "zinc finger protein", "finger protein 857a", "zinc finger protein 857a", "lymphoma", "lymphoma related", "lymphoma related factor", "containing 7a", "1 inducer", "transcripts binding", "domain containing 7a", "7a hiv", "hiv 1 inducer", "1 inducer of", "short transcripts binding", "transcripts binding protein", "btb domain containing 7a", "containing 7a hiv", "7a hiv 1", "hiv 1 inducer of", "1 inducer of short", "of short transcripts binding", "short transcripts binding protein", "and btb domain containing 7a", "domain containing 7a hiv", "containing 7a hiv 1", "7a hiv 1 inducer", "hiv 1 inducer of short", "1 inducer of short transcripts", "inducer of short transcripts binding", "of short transcripts binding protein" ] }, { "record_id": "MONDO:0859232", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859232", "0859232", "mim:619797", "619797" ] }, { "record_id": "MONDO:0859232", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "central", "hypotonia", "and", "dysmorphic", "facies", "neurodevelopmental disorder", "disorder with", "with central", "central hypotonia", "hypotonia and", "and dysmorphic", "dysmorphic facies", "neurodevelopmental disorder with", "disorder with central", "with central hypotonia", "central hypotonia and", "hypotonia and dysmorphic", "and dysmorphic facies", "neurodevelopmental disorder with central", "disorder with central hypotonia", "with central hypotonia and", "central hypotonia and dysmorphic", "hypotonia and dysmorphic facies", "neurodevelopmental disorder with central hypotonia", "disorder with central hypotonia and", "with central hypotonia and dysmorphic", "central hypotonia and dysmorphic facies" ] }, { "record_id": "MONDO:0859232", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859232", "record_type": "disease", "section": "proteins", "phraselist": [ "p56524", "p56524 1", "hdac4_human", "np_006028", "glycoprotein", "hdac4", "aho3", "bdmr", "ha6116", "hd4", "hdac", "hdac 4", "hdac a", "hdaca", "kiaa0288", "nedchf", "nedchid" ] }, { "record_id": "MONDO:0859232", "record_type": "disease", "section": "proteins", "phraselist": [ "histone", "deacetylase", "histone deacetylase", "deacetylase 4", "histone deacetylase 4", "3.5.1.98", "hd4", "isoform", "4 isoform", "isoform 2", "deacetylase 4 isoform", "4 isoform 2", "histone deacetylase 4 isoform", "deacetylase 4 isoform 2", "histone deacetylase 4 isoform 2", "deacetylase a", "histone deacetylase a" ] }, { "record_id": "MONDO:0859233", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859233", "0859233", "mim:619817", "619817" ] }, { "record_id": "MONDO:0859233", "record_type": "disease", "section": "disease_name", "phraselist": [ "epidermolysis", "bullosa", "junctional", "with", "pyloric", "atresia", "epidermolysis bullosa", "junctional 6", "with pyloric", "pyloric atresia", "bullosa junctional", "6 with", "with pyloric atresia", "epidermolysis bullosa junctional", "bullosa junctional 6", "junctional 6 with", "6 with pyloric", "epidermolysis bullosa junctional 6", "junctional 6 with pyloric", "6 with pyloric atresia" ] }, { "record_id": "MONDO:0859233", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859233", "record_type": "disease", "section": "proteins", "phraselist": [ "p23229", "p23229 1", "ita6_human", "np_000201", "glycoprotein", "itga6", "cd49f", "itga6a", "itga6b", "jeb6", "vla", "vla 6" ] }, { "record_id": "MONDO:0859233", "record_type": "disease", "section": "proteins", "phraselist": [ "integrin", "alpha", "integrin alpha", "alpha 6", "integrin alpha 6", "cd49", "antigen", "like", "family", "member", "cd49 antigen", "antigen like", "like family", "family member", "member f", "cd49 antigen like", "antigen like family", "like family member", "family member f", "cd49 antigen like family", "antigen like family member", "like family member f", "cd49 antigen like family member", "antigen like family member f", "vla", "vla 6", "isoform", "preproprotein", "6 isoform", "isoform b", "b preproprotein", "alpha 6 isoform", "6 isoform b", "isoform b preproprotein", "integrin alpha 6 isoform", "alpha 6 isoform b", "6 isoform b preproprotein", "integrin alpha 6 isoform b", "alpha 6 isoform b preproprotein", "alpha6b", "integrin alpha6b", "very", "late", "activation", "protein", "very late", "late activation", "activation protein", "protein 6", "very late activation", "late activation protein", "activation protein 6", "very late activation protein", "late activation protein 6", "very late activation protein 6" ] }, { "record_id": "MONDO:0859236", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859236", "0859236", "mim:619833", "619833" ] }, { "record_id": "MONDO:0859236", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "neuromuscular", "and", "skeletal", "abnormalities", "neurodevelopmental disorder", "disorder with", "with neuromuscular", "neuromuscular and", "and skeletal", "skeletal abnormalities", "neurodevelopmental disorder with", "disorder with neuromuscular", "with neuromuscular and", "neuromuscular and skeletal", "and skeletal abnormalities", "neurodevelopmental disorder with neuromuscular", "disorder with neuromuscular and", "with neuromuscular and skeletal", "neuromuscular and skeletal abnormalities", "neurodevelopmental disorder with neuromuscular and", "disorder with neuromuscular and skeletal", "with neuromuscular and skeletal abnormalities" ] }, { "record_id": "MONDO:0859236", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859236", "record_type": "disease", "section": "proteins", "phraselist": [ "q92823", "q92823 1", "nrcam_human", "np_001032209", "glycoprotein", "nrcam", "kiaa0343", "nednms" ] }, { "record_id": "MONDO:0859236", "record_type": "disease", "section": "proteins", "phraselist": [ "neuronal", "cell", "adhesion", "molecule", "neuronal cell", "cell adhesion", "adhesion molecule", "neuronal cell adhesion", "cell adhesion molecule", "neuronal cell adhesion molecule", "surface", "protein", "bravo", "neuronal surface", "surface protein", "protein bravo", "neuronal surface protein", "surface protein bravo", "neuronal surface protein bravo", "ng", "cam", "related", "ng cam", "cam related", "ng cam related", "ngcam", "ngcam related", "related cell", "ngcam related cell", "related cell adhesion", "ngcam related cell adhesion", "related cell adhesion molecule", "ngcam related cell adhesion molecule", "nr", "nr cam", "hbravo", "isoform", "precursor", "molecule isoform", "isoform a", "a precursor", "adhesion molecule isoform", "molecule isoform a", "isoform a precursor", "cell adhesion molecule isoform", "adhesion molecule isoform a", "molecule isoform a precursor", "neuronal cell adhesion molecule isoform", "cell adhesion molecule isoform a", "adhesion molecule isoform a precursor" ] }, { "record_id": "MONDO:0859238", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859238", "0859238", "mim:619836", "619836" ] }, { "record_id": "MONDO:0859238", "record_type": "disease", "section": "disease_name", "phraselist": [ "hypoalphalipoproteinemia", "primary", "intermediate", "hypoalphalipoproteinemia primary", "primary 2", "2 intermediate", "hypoalphalipoproteinemia primary 2", "primary 2 intermediate" ] }, { "record_id": "MONDO:0859238", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859238", "record_type": "disease", "section": "proteins", "phraselist": [ "p02647", "p02647 1", "apoa1_human", "np_000030", "glycoprotein", "apoa1", "amyld3", "hpalp2", "apo", "apo a" ] }, { "record_id": "MONDO:0859238", "record_type": "disease", "section": "proteins", "phraselist": [ "apolipoprotein", "apolipoprotein a", "a i", "apolipoprotein a i", "apo", "ai", "apo ai", "apoa", "apoa i", "242", "i 1", "1 242", "a i 1", "i 1 242", "apolipoprotein a i 1", "a i 1 242", "apolipoprotein a i 1 242", "a1", "apolipoprotein a1", "isoform", "preproprotein", "i isoform", "isoform 1", "1 preproprotein", "a i isoform", "i isoform 1", "isoform 1 preproprotein", "apolipoprotein a i isoform", "a i isoform 1", "i isoform 1 preproprotein", "apolipoprotein a i isoform 1", "a i isoform 1 preproprotein", "epididymis", "secretory", "sperm", "binding", "protein", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein" ] }, { "record_id": "MONDO:0859239", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859239", "0859239", "mim:619841", "619841" ] }, { "record_id": "MONDO:0859239", "record_type": "disease", "section": "disease_name", "phraselist": [ "chilton", "okur", "chung", "neurodevelopmental", "syndrome", "chilton okur", "okur chung", "chung neurodevelopmental", "neurodevelopmental syndrome", "chilton okur chung", "okur chung neurodevelopmental", "chung neurodevelopmental syndrome", "chilton okur chung neurodevelopmental", "okur chung neurodevelopmental syndrome", "chilton okur chung neurodevelopmental syndrome" ] }, { "record_id": "MONDO:0859239", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859239", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y5s2", "q9y5s2 1", "mrckb_human", "np_006026", "glycoprotein", "cdc42bpb", "chocns", "kiaa1124", "mrckb" ] }, { "record_id": "MONDO:0859239", "record_type": "disease", "section": "proteins", "phraselist": [ "serine/threonine", "protein", "kinase", "mrck", "beta", "serine/threonine protein", "protein kinase", "kinase mrck", "mrck beta", "serine/threonine protein kinase", "protein kinase mrck", "kinase mrck beta", "serine/threonine protein kinase mrck", "protein kinase mrck beta", "serine/threonine protein kinase mrck beta", "2.7.11.1", "cdc42", "binding", "dmpk", "like", "cdc42 binding", "binding protein", "kinase beta", "dmpk like", "cdc42 binding protein", "binding protein kinase", "protein kinase beta", "beta dmpk", "cdc42 binding protein kinase", "binding protein kinase beta", "kinase beta dmpk", "beta dmpk like", "cdc42 binding protein kinase beta", "protein kinase beta dmpk", "kinase beta dmpk like", "cdc42bp", "cdc42bp beta", "like beta", "dmpk like beta", "myotonic", "dystrophy", "related", "myotonic dystrophy", "dystrophy kinase", "kinase related", "related cdc42", "binding kinase", "myotonic dystrophy kinase", "dystrophy kinase related", "kinase related cdc42", "related cdc42 binding", "cdc42 binding kinase", "binding kinase beta", "myotonic dystrophy kinase related", "dystrophy kinase related cdc42", "kinase related cdc42 binding", "related cdc42 binding kinase", "cdc42 binding kinase beta", "myotonic dystrophy kinase related cdc42", "dystrophy kinase related cdc42 binding", "kinase related cdc42 binding kinase", "related cdc42 binding kinase beta", "dystrophy protein", "kinase like", "myotonic dystrophy protein", "dystrophy protein kinase", "protein kinase like", "kinase like beta", "myotonic dystrophy protein kinase", "dystrophy protein kinase like", "protein kinase like beta", "myotonic dystrophy protein kinase like", "dystrophy protein kinase like beta", "isoform", "beta isoform", "isoform 1", "mrck beta isoform", "beta isoform 1", "kinase mrck beta isoform", "mrck beta isoform 1", "protein kinase mrck beta isoform", "kinase mrck beta isoform 1" ] }, { "record_id": "MONDO:0859240", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859240", "0859240", "mim:619844", "619844" ] }, { "record_id": "MONDO:0859240", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "or", "without", "peripheral", "neuropathy", "intellectual developmental", "developmental disorder", "disorder with", "with or", "or without", "without peripheral", "peripheral neuropathy", "intellectual developmental disorder", "developmental disorder with", "disorder with or", "with or without", "or without peripheral", "without peripheral neuropathy", "intellectual developmental disorder with", "developmental disorder with or", "disorder with or without", "with or without peripheral", "or without peripheral neuropathy", "intellectual developmental disorder with or", "developmental disorder with or without", "disorder with or without peripheral", "with or without peripheral neuropathy" ] }, { "record_id": "MONDO:0859240", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859240", "record_type": "disease", "section": "proteins", "phraselist": [ "p50583", "p50583 1", "ap4a_human", "np_001152", "nudt2", "apah1", "iddpn" ] }, { "record_id": "MONDO:0859240", "record_type": "disease", "section": "proteins", "phraselist": [ "bis", "5'", "nucleosyl", "tetraphosphatase", "asymmetrical", "bis 5'", "5' nucleosyl", "bis 5' nucleosyl", "nucleosyl tetraphosphatase", "tetraphosphatase asymmetrical", "5' nucleosyl tetraphosphatase", "bis 5' nucleosyl tetraphosphatase", "nucleosyl tetraphosphatase asymmetrical", "3.6.1.17", "ap4a", "hydrolase", "ap4a hydrolase", "hydrolase 1", "ap4a hydrolase 1", "ap4aase", "diadenosine", "5'''", "p1", "p4", "tetraphosphate", "diadenosine 5'", "5' 5'''", "5''' p1", "p1 p4", "p4 tetraphosphate", "tetraphosphate asymmetrical", "asymmetrical hydrolase", "diadenosine 5' 5'''", "5' 5''' p1", "5''' p1 p4", "p1 p4 tetraphosphate", "p4 tetraphosphate asymmetrical", "tetraphosphate asymmetrical hydrolase", "diadenosine 5' 5''' p1", "5' 5''' p1 p4", "5''' p1 p4 tetraphosphate", "p1 p4 tetraphosphate asymmetrical", "p4 tetraphosphate asymmetrical hydrolase", "diadenosine 5' 5''' p1 p4", "5' 5''' p1 p4 tetraphosphate", "5''' p1 p4 tetraphosphate asymmetrical", "p1 p4 tetraphosphate asymmetrical hydrolase", "diadenosine tetraphosphatase", "nucleoside", "diphosphate", "linked", "moiety", "motif", "nucleoside diphosphate", "diphosphate linked", "linked moiety", "moiety x", "x motif", "motif 2", "nucleoside diphosphate linked", "diphosphate linked moiety", "linked moiety x", "moiety x motif", "x motif 2", "nucleoside diphosphate linked moiety", "diphosphate linked moiety x", "linked moiety x motif", "moiety x motif 2", "nucleoside diphosphate linked moiety x", "diphosphate linked moiety x motif", "linked moiety x motif 2", "nudix", "nudix motif", "nudix motif 2", "5''", "pyrophosphohydrolase", "5' 5''", "5'' p1", "tetraphosphate pyrophosphohydrolase", "diadenosine 5' 5''", "5' 5'' p1", "5'' p1 p4", "p4 tetraphosphate pyrophosphohydrolase", "diadenosine 5' 5'' p1", "5' 5'' p1 p4", "5'' p1 p4 tetraphosphate", "p1 p4 tetraphosphate pyrophosphohydrolase", "diadenosine 5' 5'' p1 p4", "5' 5'' p1 p4 tetraphosphate", "5'' p1 p4 tetraphosphate pyrophosphohydrolase", "type", "type motif", "nudix nucleoside", "x type", "type motif 2", "nudix nucleoside diphosphate", "moiety x type", "x type motif", "nudix nucleoside diphosphate linked", "linked moiety x type", "moiety x type motif", "x type motif 2" ] }, { "record_id": "MONDO:0859241", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859241", "0859241", "mim:619847", "619847" ] }, { "record_id": "MONDO:0859241", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodegeneration", "childhood", "onset", "with", "progressive", "microcephaly", "childhood onset", "with progressive", "progressive microcephaly", "neurodegeneration childhood", "onset with", "with progressive microcephaly", "neurodegeneration childhood onset", "childhood onset with", "onset with progressive", "childhood onset with progressive", "onset with progressive microcephaly" ] }, { "record_id": "MONDO:0859241", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859241", "record_type": "disease", "section": "proteins", "phraselist": [ "p23919", "p23919 1", "kthy_human", "np_001158503", "glycoprotein", "dtymk", "cdc8", "conpm", "pp3731", "tmpk", "tymk" ] }, { "record_id": "MONDO:0859241", "record_type": "disease", "section": "proteins", "phraselist": [ "thymidylate", "kinase", "thymidylate kinase", "2.7.4.9", "dtmp", "dtmp kinase", "deoxythymidylate", "deoxythymidylate kinase", "kinase thymidylate", "deoxythymidylate kinase thymidylate", "kinase thymidylate kinase", "deoxythymidylate kinase thymidylate kinase", "isoform", "kinase isoform", "isoform 2", "thymidylate kinase isoform", "kinase isoform 2", "thymidylate kinase isoform 2" ] }, { "record_id": "MONDO:0859243", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859243", "0859243", "mim:619854", "619854" ] }, { "record_id": "MONDO:0859243", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hypotonia", "impaired", "speech", "and", "behavioral", "abnormalities", "neurodevelopmental disorder", "disorder with", "with hypotonia", "impaired speech", "and behavioral", "behavioral abnormalities", "neurodevelopmental disorder with", "disorder with hypotonia", "hypotonia impaired", "speech and", "and behavioral abnormalities", "neurodevelopmental disorder with hypotonia", "with hypotonia impaired", "hypotonia impaired speech", "impaired speech and", "speech and behavioral", "disorder with hypotonia impaired", "with hypotonia impaired speech", "impaired speech and behavioral", "speech and behavioral abnormalities" ] }, { "record_id": "MONDO:0859243", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859243", "record_type": "disease", "section": "proteins", "phraselist": [ "p63096", "p63096 1", "gnai1_human", "np_001243343", "glycoprotein", "gnai1", "gi", "hg1b", "nedhisb" ] }, { "record_id": "MONDO:0859243", "record_type": "disease", "section": "proteins", "phraselist": [ "guanine", "nucleotide", "binding", "protein", "subunit", "alpha", "guanine nucleotide", "nucleotide binding", "binding protein", "protein g", "g i", "subunit alpha", "alpha 1", "guanine nucleotide binding", "nucleotide binding protein", "binding protein g", "protein g i", "i subunit", "subunit alpha 1", "guanine nucleotide binding protein", "nucleotide binding protein g", "binding protein g i", "g i subunit", "i subunit alpha", "guanine nucleotide binding protein g", "nucleotide binding protein g i", "protein g i subunit", "g i subunit alpha", "i subunit alpha 1", "3.6.5.", "adenylate", "cyclase", "inhibiting", "adenylate cyclase", "cyclase inhibiting", "inhibiting g", "g alpha", "alpha protein", "adenylate cyclase inhibiting", "cyclase inhibiting g", "inhibiting g alpha", "g alpha protein", "adenylate cyclase inhibiting g", "cyclase inhibiting g alpha", "inhibiting g alpha protein", "adenylate cyclase inhibiting g alpha", "cyclase inhibiting g alpha protein", "gi1", "gi1 protein", "protein alpha", "alpha subunit", "gi1 protein alpha", "protein alpha subunit", "gi1 protein alpha subunit", "activity", "polypeptide", "g protein", "alpha inhibiting", "inhibiting activity", "activity polypeptide", "polypeptide 1", "alpha inhibiting activity", "inhibiting activity polypeptide", "activity polypeptide 1", "protein g protein", "alpha inhibiting activity polypeptide", "inhibiting activity polypeptide 1", "binding protein g protein", "g protein alpha", "protein alpha inhibiting", "alpha inhibiting activity polypeptide 1", "isoform", "1 isoform", "isoform 2", "alpha 1 isoform", "1 isoform 2", "subunit alpha 1 isoform", "alpha 1 isoform 2", "subunit alpha 1 isoform 2", "heterotrimeric", "1b", "heterotrimeric guanine", "protein 1b", "heterotrimeric guanine nucleotide", "binding protein 1b", "heterotrimeric guanine nucleotide binding", "nucleotide binding protein 1b", "heterotrimeric guanine nucleotide binding protein", "guanine nucleotide binding protein 1b" ] }, { "record_id": "MONDO:0859244", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859244", "0859244", "mim:619859", "619859" ] }, { "record_id": "MONDO:0859244", "record_type": "disease", "section": "disease_name", "phraselist": [ "phosphoribosylaminoimidazole", "carboxylase", "deficiency", "phosphoribosylaminoimidazole carboxylase", "carboxylase deficiency", "phosphoribosylaminoimidazole carboxylase deficiency" ] }, { "record_id": "MONDO:0859244", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859244", "record_type": "disease", "section": "proteins", "phraselist": [ "p22234", "p22234 1", "pur6_human", "np_001072992", "glycoprotein", "paics", "ade2h1", "ade2", "airc", "paicsd", "pais" ] }, { "record_id": "MONDO:0859244", "record_type": "disease", "section": "proteins", "phraselist": [ "bifunctional", "phosphoribosylaminoimidazole", "carboxylase/phosphoribosylaminoimidazole", "succinocarboxamide", "synthetase", "bifunctional phosphoribosylaminoimidazole", "phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole", "carboxylase/phosphoribosylaminoimidazole succinocarboxamide", "succinocarboxamide synthetase", "bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole", "phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide", "carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase", "bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide", "phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase", "bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase", "air", "carboxylase", "air carboxylase", "airc", "paics", "saicar", "saicar synthetase", "isoform", "synthetase isoform", "isoform 2", "succinocarboxamide synthetase isoform", "synthetase isoform 2", "carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform", "succinocarboxamide synthetase isoform 2", "phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform", "carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase isoform 2", "multifunctional", "protein", "ade2h1", "multifunctional protein", "protein ade2h1", "multifunctional protein ade2h1", "ade2", "protein ade2", "multifunctional protein ade2", "phosphoribosylaminoimidazole carboxylase", "phosphoribosylaminoimidazole succinocarboxamide", "carboxylase phosphoribosylaminoimidazole", "phosphoribosylaminoimidazole succinocarboxamide synthetase", "phosphoribosylaminoimidazole carboxylase phosphoribosylaminoimidazole", "carboxylase phosphoribosylaminoimidazole succinocarboxamide", "phosphoribosylaminoimidazole carboxylase phosphoribosylaminoimidazole succinocarboxamide", "carboxylase phosphoribosylaminoimidazole succinocarboxamide synthetase", "phosphoribosylaminoimidazolesuccinocarboxamide", "synthase", "phosphoribosylaminoimidazolesuccinocarboxamide synthase" ] }, { "record_id": "MONDO:0859246", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859246", "0859246", "mim:619864", "619864" ] }, { "record_id": "MONDO:0859246", "record_type": "disease", "section": "disease_name", "phraselist": [ "leukodystrophy", "childhood", "onset", "remitting", "childhood onset", "leukodystrophy childhood", "onset remitting", "leukodystrophy childhood onset", "childhood onset remitting" ] }, { "record_id": "MONDO:0859246", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859246", "record_type": "disease", "section": "proteins", "phraselist": [ "o00757", "o00757 1", "f16p2_human", "np_003828", "fbp2", "corlk" ] }, { "record_id": "MONDO:0859246", "record_type": "disease", "section": "proteins", "phraselist": [ "fructose", "bisphosphatase", "isozyme", "fructose 1", "1 6", "6 bisphosphatase", "bisphosphatase isozyme", "isozyme 2", "fructose 1 6", "1 6 bisphosphatase", "6 bisphosphatase isozyme", "bisphosphatase isozyme 2", "fructose 1 6 bisphosphatase", "1 6 bisphosphatase isozyme", "6 bisphosphatase isozyme 2", "fructose 1 6 bisphosphatase isozyme", "1 6 bisphosphatase isozyme 2", "3.1.3.11", "bisphosphate", "phosphohydrolase", "d fructose", "6 bisphosphate", "bisphosphate 1", "1 phosphohydrolase", "phosphohydrolase 2", "d fructose 1", "1 6 bisphosphate", "6 bisphosphate 1", "bisphosphate 1 phosphohydrolase", "1 phosphohydrolase 2", "d fructose 1 6", "fructose 1 6 bisphosphate", "1 6 bisphosphate 1", "6 bisphosphate 1 phosphohydrolase", "bisphosphate 1 phosphohydrolase 2", "d fructose 1 6 bisphosphate", "fructose 1 6 bisphosphate 1", "1 6 bisphosphate 1 phosphohydrolase", "6 bisphosphate 1 phosphohydrolase 2", "fbpase", "fbpase 2", "muscle", "muscle fbpase", "bisphosphatase 2", "6 bisphosphatase 2", "1 6 bisphosphatase 2", "fructose 1 6 bisphosphatase 2", "hexosediphosphatase", "muscle fructose", "fructose bisphosphatase", "muscle fructose bisphosphatase" ] }, { "record_id": "MONDO:0859247", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859247", "0859247", "mim:619869", "619869" ] }, { "record_id": "MONDO:0859247", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurocardiofaciodigital", "syndrome", "neurocardiofaciodigital syndrome" ] }, { "record_id": "MONDO:0859247", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859247", "record_type": "disease", "section": "proteins", "phraselist": [ "q8iw41", "q8iw41 1", "mapk5_human", "np_003659", "mapkapk5", "mapkap", "k5", "mapkap k5", "mk", "mk 5", "mk5", "ncfd", "prak" ] }, { "record_id": "MONDO:0859247", "record_type": "disease", "section": "proteins", "phraselist": [ "map", "kinase", "activated", "protein", "map kinase", "kinase activated", "activated protein", "protein kinase", "kinase 5", "map kinase activated", "kinase activated protein", "activated protein kinase", "protein kinase 5", "map kinase activated protein", "kinase activated protein kinase", "activated protein kinase 5", "map kinase activated protein kinase", "kinase activated protein kinase 5", "2.7.11.1", "isoform", "5 isoform", "isoform 1", "kinase 5 isoform", "5 isoform 1", "protein kinase 5 isoform", "kinase 5 isoform 1", "activated protein kinase 5 isoform", "protein kinase 5 isoform 1", "mapk", "mapk activated", "mapk activated protein", "mapk activated protein kinase", "mapk activated protein kinase 5", "mapkap", "mapkap kinase", "mapkap kinase 5", "k5", "mapkap k5", "mapkapk", "mapkapk 5", "mk", "mk 5", "mk5", "prak", "mitogen", "mitogen activated", "mitogen activated protein", "protein kinase activated", "mitogen activated protein kinase", "activated protein kinase activated", "protein kinase activated protein", "mitogen activated protein kinase activated", "activated protein kinase activated protein", "protein kinase activated protein kinase", "p38", "regulated/activated", "p38 regulated/activated", "regulated/activated protein", "p38 regulated/activated protein", "regulated/activated protein kinase", "p38 regulated/activated protein kinase" ] }, { "record_id": "MONDO:0859248", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859248", "0859248", "mim:619871", "619871" ] }, { "record_id": "MONDO:0859248", "record_type": "disease", "section": "disease_name", "phraselist": [ "corneal", "dystrophy", "punctiform", "and", "polychromatic", "pre", "descemet", "corneal dystrophy", "punctiform and", "and polychromatic", "polychromatic pre", "pre descemet", "dystrophy punctiform", "punctiform and polychromatic", "and polychromatic pre", "polychromatic pre descemet", "corneal dystrophy punctiform", "dystrophy punctiform and", "punctiform and polychromatic pre", "and polychromatic pre descemet", "corneal dystrophy punctiform and", "dystrophy punctiform and polychromatic", "punctiform and polychromatic pre descemet" ] }, { "record_id": "MONDO:0859248", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859248", "record_type": "disease", "section": "proteins", "phraselist": [ "p30048", "p30048 1", "prdx3_human", "np_001289201", "glycoprotein", "prdx3", "aop", "aop 1", "aop1", "hbc189", "mer5", "pppcd", "pro1748", "scar32", "sp", "22", "sp 22", "prx", "iii", "prx iii" ] }, { "record_id": "MONDO:0859248", "record_type": "disease", "section": "proteins", "phraselist": [ "thioredoxin", "dependent", "peroxide", "reductase", "mitochondrial", "thioredoxin dependent", "dependent peroxide", "peroxide reductase", "thioredoxin dependent peroxide", "dependent peroxide reductase", "reductase mitochondrial", "thioredoxin dependent peroxide reductase", "peroxide reductase mitochondrial", "dependent peroxide reductase mitochondrial", "1.11.1.24", "aop", "aop 1", "antioxidant", "protein", "antioxidant protein", "protein 1", "antioxidant protein 1", "hbc189", "peroxiredoxin", "iii", "peroxiredoxin iii", "peroxiredoxin 3", "mer5", "homolog", "protein mer5", "mer5 homolog", "protein mer5 homolog", "prx", "prx iii", "dependent peroxiredoxin", "thioredoxin dependent peroxiredoxin", "dependent peroxiredoxin 3", "thioredoxin dependent peroxiredoxin 3", "epididymis", "secretory", "sperm", "binding", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "isoform", "precursor", "mitochondrial isoform", "isoform c", "c precursor", "mitochondrial isoform c", "isoform c precursor", "reductase mitochondrial isoform", "mitochondrial isoform c precursor", "peroxide reductase mitochondrial isoform", "reductase mitochondrial isoform c" ] }, { "record_id": "MONDO:0859249", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859249", "0859249", "mim:619873", "619873" ] }, { "record_id": "MONDO:0859249", "record_type": "disease", "section": "disease_name", "phraselist": [ "parenti", "mignot", "neurodevelopmental", "syndrome", "parenti mignot", "mignot neurodevelopmental", "neurodevelopmental syndrome", "parenti mignot neurodevelopmental", "mignot neurodevelopmental syndrome", "parenti mignot neurodevelopmental syndrome" ] }, { "record_id": "MONDO:0859249", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859249", "record_type": "disease", "section": "proteins", "phraselist": [ "q8tdi0", "q8tdi0 1", "chd5_human", "np_056372", "glycoprotein", "chd5", "chd", "chd 5", "kiaa0444", "pmnds" ] }, { "record_id": "MONDO:0859249", "record_type": "disease", "section": "proteins", "phraselist": [ "atp", "dependent", "chromatin", "remodeler", "chd5", "atp dependent", "dependent chromatin", "chromatin remodeler", "remodeler chd5", "atp dependent chromatin", "dependent chromatin remodeler", "chromatin remodeler chd5", "atp dependent chromatin remodeler", "dependent chromatin remodeler chd5", "atp dependent chromatin remodeler chd5", "3.6.4.", "helicase", "dependent helicase", "helicase chd5", "atp dependent helicase", "dependent helicase chd5", "atp dependent helicase chd5", "chd", "chd 5", "chromo", "domain", "containing", "protein", "chromo domain", "domain containing", "containing protein", "protein 5", "chromo domain containing", "domain containing protein", "containing protein 5", "chromo domain containing protein", "domain containing protein 5", "chromo domain containing protein 5" ] }, { "record_id": "MONDO:0859250", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859250", "0859250", "mim:619876", "619876" ] }, { "record_id": "MONDO:0859250", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "hypotonia", "nystagmus", "and", "seizures", "neurodevelopmental disorder", "disorder with", "with microcephaly", "and seizures", "neurodevelopmental disorder with", "disorder with microcephaly", "microcephaly hypotonia", "hypotonia nystagmus", "nystagmus and", "neurodevelopmental disorder with microcephaly", "with microcephaly hypotonia", "nystagmus and seizures", "disorder with microcephaly hypotonia", "microcephaly hypotonia nystagmus", "hypotonia nystagmus and" ] }, { "record_id": "MONDO:0859250", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859250", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ukf6", "q9ukf6 1", "cpsf3_human", "np_057291", "glycoprotein", "cpsf3", "cpsf", "73", "cpsf 73", "cpsf73", "nedmhsn", "nedmhs" ] }, { "record_id": "MONDO:0859250", "record_type": "disease", "section": "proteins", "phraselist": [ "cleavage", "and", "polyadenylation", "specificity", "factor", "subunit", "cleavage and", "and polyadenylation", "polyadenylation specificity", "specificity factor", "factor subunit", "subunit 3", "cleavage and polyadenylation", "and polyadenylation specificity", "polyadenylation specificity factor", "specificity factor subunit", "factor subunit 3", "cleavage and polyadenylation specificity", "and polyadenylation specificity factor", "polyadenylation specificity factor subunit", "specificity factor subunit 3", "cleavage and polyadenylation specificity factor", "and polyadenylation specificity factor subunit", "polyadenylation specificity factor subunit 3", "3.1.27.", "cpsf", "73", "kda", "cpsf 73", "73 kda", "kda subunit", "cpsf 73 kda", "73 kda subunit", "cpsf 73 kda subunit", "factor 73", "specificity factor 73", "factor 73 kda", "polyadenylation specificity factor 73", "specificity factor 73 kda", "factor 73 kda subunit", "and polyadenylation specificity factor 73", "polyadenylation specificity factor 73 kda", "specificity factor 73 kda subunit", "specific", "73kda", "polyadenylation specific", "specific factor", "factor 3", "and polyadenylation specific", "polyadenylation specific factor", "specific factor 3", "3 73kda", "cleavage and polyadenylation specific", "and polyadenylation specific factor", "polyadenylation specific factor 3", "factor 3 73kda", "cleavage and polyadenylation specific factor", "and polyadenylation specific factor 3", "specific factor 3 73kda", "isoform", "3 isoform", "isoform a", "subunit 3 isoform", "3 isoform a", "factor subunit 3 isoform", "subunit 3 isoform a", "specificity factor subunit 3 isoform", "factor subunit 3 isoform a", "mrna", "3'", "end", "processing", "endonuclease", "mrna 3'", "3' end", "end processing", "processing endonuclease", "endonuclease cpsf", "mrna 3' end", "3' end processing", "end processing endonuclease", "processing endonuclease cpsf", "endonuclease cpsf 73", "mrna 3' end processing", "3' end processing endonuclease", "end processing endonuclease cpsf", "processing endonuclease cpsf 73", "mrna 3' end processing endonuclease", "3' end processing endonuclease cpsf", "end processing endonuclease cpsf 73" ] }, { "record_id": "MONDO:0859251", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859251", "0859251", "mim:619877", "619877" ] }, { "record_id": "MONDO:0859251", "record_type": "disease", "section": "disease_name", "phraselist": [ "dentici", "novelli", "neurodevelopmental", "syndrome", "dentici novelli", "novelli neurodevelopmental", "neurodevelopmental syndrome", "dentici novelli neurodevelopmental", "novelli neurodevelopmental syndrome", "dentici novelli neurodevelopmental syndrome" ] }, { "record_id": "MONDO:0859251", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859251", "record_type": "disease", "section": "proteins", "phraselist": [ "q8tf50", "q8tf50 1", "zn526_human", "np_001300962", "glycoprotein", "znf526", "denned", "kiaa1951" ] }, { "record_id": "MONDO:0859251", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "protein", "526", "zinc finger", "finger protein", "protein 526", "zinc finger protein", "finger protein 526", "zinc finger protein 526" ] }, { "record_id": "MONDO:0859252", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859252", "0859252", "mim:619880", "619880" ] }, { "record_id": "MONDO:0859252", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "poor", "growth", "and", "skeletal", "anomalies", "neurodevelopmental disorder", "disorder with", "with poor", "poor growth", "growth and", "and skeletal", "skeletal anomalies", "neurodevelopmental disorder with", "disorder with poor", "with poor growth", "poor growth and", "growth and skeletal", "and skeletal anomalies", "neurodevelopmental disorder with poor", "disorder with poor growth", "with poor growth and", "poor growth and skeletal", "growth and skeletal anomalies", "neurodevelopmental disorder with poor growth", "disorder with poor growth and", "with poor growth and skeletal", "poor growth and skeletal anomalies" ] }, { "record_id": "MONDO:0859252", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859252", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y5f7", "q9y5f7 1", "pcdgl_human", "np_061751", "glycoprotein", "pcdhgc4", "nedgs", "pcdh", "gamma", "c4", "pcdh gamma", "gamma c4", "pcdh gamma c4" ] }, { "record_id": "MONDO:0859252", "record_type": "disease", "section": "proteins", "phraselist": [ "protocadherin", "gamma", "c4", "protocadherin gamma", "gamma c4", "protocadherin gamma c4", "pcdh", "pcdh gamma", "pcdh gamma c4", "isoform", "precursor", "c4 isoform", "isoform 1", "1 precursor", "gamma c4 isoform", "c4 isoform 1", "isoform 1 precursor", "protocadherin gamma c4 isoform", "gamma c4 isoform 1", "c4 isoform 1 precursor", "protocadherin gamma c4 isoform 1", "gamma c4 isoform 1 precursor" ] }, { "record_id": "MONDO:0859253", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859253", "0859253", "mim:619884", "619884" ] }, { "record_id": "MONDO:0859253", "record_type": "disease", "section": "disease_name", "phraselist": [ "osteoporosis", "childhood", "or", "juvenile", "onset", "with", "developmental", "delay", "or juvenile", "juvenile onset", "with developmental", "developmental delay", "osteoporosis childhood", "childhood or", "or juvenile onset", "onset with", "with developmental delay", "childhood or juvenile", "juvenile onset with", "onset with developmental", "osteoporosis childhood or", "childhood or juvenile onset", "or juvenile onset with", "juvenile onset with developmental", "onset with developmental delay" ] }, { "record_id": "MONDO:0859253", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859253", "record_type": "disease", "section": "proteins", "phraselist": [ "p35606", "p35606 1", "copb2_human", "np_004757", "glycoprotein", "copb2", "mcph19", "opdd", "beta'", "cop", "beta' cop" ] }, { "record_id": "MONDO:0859253", "record_type": "disease", "section": "proteins", "phraselist": [ "coatomer", "subunit", "beta'", "coatomer subunit", "subunit beta'", "coatomer subunit beta'", "cop", "beta' cop", "coat", "protein", "beta' coat", "coat protein", "beta' coat protein", "copi", "complex", "beta", "copi coat", "coat complex", "complex subunit", "subunit beta", "beta 2", "copi coat complex", "coat complex subunit", "complex subunit beta", "subunit beta 2", "copi coat complex subunit", "coat complex subunit beta", "complex subunit beta 2", "copi coat complex subunit beta", "coat complex subunit beta 2", "betaprime", "betaprime cop", "binding", "prime", "coatomer binding", "binding complex", "beta prime", "prime subunit", "coatomer binding complex", "complex beta", "beta prime subunit", "binding complex beta", "complex beta prime", "coatomer binding complex beta", "binding complex beta prime", "complex beta prime subunit", "coatomer protein", "protein complex", "coatomer protein complex", "protein complex subunit", "coatomer protein complex subunit", "protein complex subunit beta", "coatomer protein complex subunit beta", "protein complex subunit beta 2", "subunit beta prime", "complex subunit beta prime", "protein complex subunit beta prime", "2 beta", "beta 2 beta", "2 beta prime", "subunit beta 2 beta", "beta 2 beta prime", "isoform", "beta' isoform", "isoform 1", "subunit beta' isoform", "beta' isoform 1", "coatomer subunit beta' isoform", "subunit beta' isoform 1", "coatomer subunit beta' isoform 1", "p102" ] }, { "record_id": "MONDO:0859254", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859254", "0859254", "mim:619902", "619902" ] }, { "record_id": "MONDO:0859254", "record_type": "disease", "section": "disease_name", "phraselist": [ "hepatorenocardiac", "degenerative", "fibrosis", "hepatorenocardiac degenerative", "degenerative fibrosis", "hepatorenocardiac degenerative fibrosis" ] }, { "record_id": "MONDO:0859254", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859254", "record_type": "disease", "section": "proteins", "phraselist": [ "o75386", "o75386 1", "tulp3_human", "np_001153880", "tulp3", "hrcdf", "tubl3" ] }, { "record_id": "MONDO:0859254", "record_type": "disease", "section": "proteins", "phraselist": [ "tubby", "related", "protein", "tubby related", "related protein", "protein 3", "tubby related protein", "related protein 3", "tubby related protein 3", "like", "tubby like", "like protein", "tubby like protein", "like protein 3", "tubby like protein 3", "isoform", "3 isoform", "isoform 2", "protein 3 isoform", "3 isoform 2", "related protein 3 isoform", "protein 3 isoform 2", "tubby related protein 3 isoform", "related protein 3 isoform 2" ] }, { "record_id": "MONDO:0859255", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859255", "0859255", "mim:619903", "619903" ] }, { "record_id": "MONDO:0859255", "record_type": "disease", "section": "disease_name", "phraselist": [ "peripheral", "motor", "neuropathy", "childhood", "onset", "biotin", "responsive", "peripheral motor", "motor neuropathy", "childhood onset", "biotin responsive", "peripheral motor neuropathy", "neuropathy childhood", "onset biotin", "motor neuropathy childhood", "neuropathy childhood onset", "childhood onset biotin", "onset biotin responsive", "peripheral motor neuropathy childhood", "motor neuropathy childhood onset", "childhood onset biotin responsive" ] }, { "record_id": "MONDO:0859255", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859255", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y289", "q9y289 1", "sc5a6_human", "np_066918", "glycoprotein", "slc5a6", "comnb", "nerib", "smvtd", "smvt", "hsmvt" ] }, { "record_id": "MONDO:0859255", "record_type": "disease", "section": "proteins", "phraselist": [ "sodium", "dependent", "multivitamin", "transporter", "sodium dependent", "dependent multivitamin", "multivitamin transporter", "sodium dependent multivitamin", "dependent multivitamin transporter", "sodium dependent multivitamin transporter", "na", "na +", "+ dependent", "na + dependent", "+ dependent multivitamin", "na + dependent multivitamin", "+ dependent multivitamin transporter", "na+", "na+ dependent", "na+ dependent multivitamin", "na+ dependent multivitamin transporter", "solute", "carrier", "family", "member", "solute carrier", "carrier family", "family 5", "5 member", "member 6", "solute carrier family", "carrier family 5", "family 5 member", "5 member 6", "solute carrier family 5", "carrier family 5 member", "family 5 member 6", "solute carrier family 5 member", "carrier family 5 member 6", "hsmvt", "vitamin", "dependent vitamin", "vitamin transporter", "5 sodium", "sodium dependent vitamin", "dependent vitamin transporter", "family 5 sodium", "5 sodium dependent", "sodium dependent vitamin transporter", "transporter member", "carrier family 5 sodium", "family 5 sodium dependent", "5 sodium dependent vitamin", "vitamin transporter member", "transporter member 6", "sodium/multivitamin", "and", "iodide", "cotransporter", "sodium/multivitamin and", "and iodide", "iodide cotransporter", "5 sodium/multivitamin", "sodium/multivitamin and iodide", "and iodide cotransporter", "family 5 sodium/multivitamin", "5 sodium/multivitamin and", "sodium/multivitamin and iodide cotransporter", "cotransporter member", "carrier family 5 sodium/multivitamin", "family 5 sodium/multivitamin and", "5 sodium/multivitamin and iodide", "iodide cotransporter member", "cotransporter member 6" ] }, { "record_id": "MONDO:0859257", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859257", "0859257", "mim:619911", "619911" ] }, { "record_id": "MONDO:0859257", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "language", "impairment", "and", "early", "onset", "dopa", "responsive", "dystonia", "parkinsonism", "intellectual developmental", "developmental disorder", "disorder with", "with language", "language impairment", "impairment and", "and early", "early onset", "onset dopa", "dopa responsive", "responsive dystonia", "dystonia parkinsonism", "intellectual developmental disorder", "developmental disorder with", "disorder with language", "with language impairment", "language impairment and", "impairment and early", "and early onset", "early onset dopa", "onset dopa responsive", "dopa responsive dystonia", "responsive dystonia parkinsonism", "intellectual developmental disorder with", "developmental disorder with language", "disorder with language impairment", "with language impairment and", "language impairment and early", "impairment and early onset", "and early onset dopa", "early onset dopa responsive", "onset dopa responsive dystonia", "dopa responsive dystonia parkinsonism", "intellectual developmental disorder with language", "developmental disorder with language impairment", "disorder with language impairment and", "with language impairment and early", "language impairment and early onset", "impairment and early onset dopa", "and early onset dopa responsive", "early onset dopa responsive dystonia", "onset dopa responsive dystonia parkinsonism" ] }, { "record_id": "MONDO:0859257", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859257", "record_type": "disease", "section": "proteins", "phraselist": [ "p43354", "p43354 1", "nr4a2_human", "np_006177", "glycoprotein", "nr4a2", "hzf", "hzf 3", "idldp", "not", "nurr1", "rnr1", "tinur" ] }, { "record_id": "MONDO:0859257", "record_type": "disease", "section": "proteins", "phraselist": [ "nuclear", "receptor", "subfamily", "group", "member", "nuclear receptor", "receptor subfamily", "subfamily 4", "4 group", "group a", "a member", "member 2", "nuclear receptor subfamily", "receptor subfamily 4", "subfamily 4 group", "4 group a", "group a member", "a member 2", "nuclear receptor subfamily 4", "receptor subfamily 4 group", "subfamily 4 group a", "4 group a member", "group a member 2", "nuclear receptor subfamily 4 group", "receptor subfamily 4 group a", "subfamily 4 group a member", "4 group a member 2", "immediate", "early", "response", "protein", "not", "immediate early", "early response", "response protein", "protein not", "immediate early response", "early response protein", "response protein not", "immediate early response protein", "early response protein not", "immediate early response protein not", "ngfi", "b/nur77", "beta", "type", "transcription", "factor", "homolog", "ngfi b/nur77", "b/nur77 beta", "beta type", "type transcription", "transcription factor", "factor homolog", "ngfi b/nur77 beta", "b/nur77 beta type", "beta type transcription", "type transcription factor", "transcription factor homolog", "ngfi b/nur77 beta type", "b/nur77 beta type transcription", "beta type transcription factor", "type transcription factor homolog", "ngfi b/nur77 beta type transcription", "b/nur77 beta type transcription factor", "beta type transcription factor homolog", "orphan", "nurr1", "orphan nuclear", "receptor nurr1", "orphan nuclear receptor", "nuclear receptor nurr1", "orphan nuclear receptor nurr1", "cell", "t cell", "cell nuclear", "receptor not", "t cell nuclear", "cell nuclear receptor", "nuclear receptor not", "t cell nuclear receptor", "cell nuclear receptor not", "t cell nuclear receptor not", "transcriptionally", "inducible", "transcriptionally inducible", "inducible nuclear", "transcriptionally inducible nuclear", "inducible nuclear receptor", "transcriptionally inducible nuclear receptor", "intermediate", "intermediate early", "early receptor", "receptor protein", "intermediate early receptor", "early receptor protein", "intermediate early receptor protein", "isoform", "2 isoform", "isoform a", "member 2 isoform", "2 isoform a", "a member 2 isoform", "member 2 isoform a", "group a member 2 isoform", "a member 2 isoform a", "nur", "related", "human", "of", "nur related", "related protein", "protein 1", "human homolog", "homolog of", "nur related protein", "related protein 1", "1 human", "human homolog of", "nur related protein 1", "protein 1 human", "1 human homolog", "related protein 1 human", "protein 1 human homolog", "1 human homolog of", "nr4a2", "receptor nr4a2", "nuclear receptor nr4a2", "orphan nuclear receptor nr4a2", "receptor related", "related 1", "nuclear receptor related", "receptor related 1", "inducible nuclear receptor related", "nuclear receptor related 1", "transcriptionally inducible nuclear receptor related", "inducible nuclear receptor related 1" ] }, { "record_id": "MONDO:0859258", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859258", "0859258", "mim:619922", "619922" ] }, { "record_id": "MONDO:0859258", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "dystonia", "and", "seizures", "neurodevelopmental disorder", "disorder with", "with dystonia", "dystonia and", "and seizures", "neurodevelopmental disorder with", "disorder with dystonia", "with dystonia and", "dystonia and seizures", "neurodevelopmental disorder with dystonia", "disorder with dystonia and", "with dystonia and seizures", "neurodevelopmental disorder with dystonia and", "disorder with dystonia and seizures" ] }, { "record_id": "MONDO:0859258", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859258", "record_type": "disease", "section": "proteins", "phraselist": [ "q6pi26", "q6pi26 1", "shq1_human", "np_060600", "shq1", "dyt35", "grim", "grim 1", "nedds", "shq1p" ] }, { "record_id": "MONDO:0859258", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "shq1", "homolog", "protein shq1", "shq1 homolog", "protein shq1 homolog", "gene", "associated", "with", "retinoid", "and", "interferon", "induced", "mortality", "gene associated", "associated with", "with retinoid", "retinoid and", "and interferon", "interferon induced", "induced mortality", "mortality 1", "gene associated with", "associated with retinoid", "with retinoid and", "retinoid and interferon", "and interferon induced", "interferon induced mortality", "induced mortality 1", "gene associated with retinoid", "associated with retinoid and", "with retinoid and interferon", "retinoid and interferon induced", "and interferon induced mortality", "interferon induced mortality 1", "gene associated with retinoid and", "associated with retinoid and interferon", "with retinoid and interferon induced", "retinoid and interferon induced mortality", "and interferon induced mortality 1" ] }, { "record_id": "MONDO:0859260", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859260", "0859260", "mim:619955", "619955" ] }, { "record_id": "MONDO:0859260", "record_type": "disease", "section": "disease_name", "phraselist": [ "dworschak", "punetha", "neurodevelopmental", "syndrome", "dworschak punetha", "punetha neurodevelopmental", "neurodevelopmental syndrome", "dworschak punetha neurodevelopmental", "punetha neurodevelopmental syndrome", "dworschak punetha neurodevelopmental syndrome" ] }, { "record_id": "MONDO:0859260", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859260", "record_type": "disease", "section": "proteins", "phraselist": [ "q9uiw2", "q9uiw2 1", "plxa1_human", "np_115618", "glycoprotein", "plxna1", "dwopned", "novp", "nov", "plexin", "a1", "plexin a1", "plxn1" ] }, { "record_id": "MONDO:0859260", "record_type": "disease", "section": "proteins", "phraselist": [ "plexin", "a1", "plexin a1", "semaphorin", "receptor", "nov", "semaphorin receptor", "receptor nov", "semaphorin receptor nov", "plexin 1", "precursor", "a1 precursor", "plexin a1 precursor" ] }, { "record_id": "MONDO:0859261", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859261", "0859261", "mim:619957", "619957" ] }, { "record_id": "MONDO:0859261", "record_type": "disease", "section": "disease_name", "phraselist": [ "attention", "deficit", "hyperactivity", "disorder", "attention deficit", "deficit hyperactivity", "hyperactivity disorder", "disorder 8", "attention deficit hyperactivity", "deficit hyperactivity disorder", "hyperactivity disorder 8", "attention deficit hyperactivity disorder", "deficit hyperactivity disorder 8", "attention deficit hyperactivity disorder 8" ] }, { "record_id": "MONDO:0859261", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859261", "record_type": "disease", "section": "proteins", "phraselist": [ "p19022", "p19022 1", "cadh2_human", "np_001295105", "glycoprotein", "cdh2", "acogs", "adhd8", "arvd14", "cd325", "cdhn", "cdw325", "ncad" ] }, { "record_id": "MONDO:0859261", "record_type": "disease", "section": "proteins", "phraselist": [ "cadherin", "cadherin 2", "cdw325", "n cadherin", "cadherin 1", "n cadherin 1", "neural", "neural cadherin", "type", "neuronal", "type 1", "2 type", "1 n", "cadherin neuronal", "cadherin 2 type", "2 type 1", "type 1 n", "1 n cadherin", "n cadherin neuronal", "cadherin 2 type 1", "type 1 n cadherin", "isoform", "2 isoform", "isoform 2", "cadherin 2 isoform", "2 isoform 2", "cadherin 2 isoform 2", "calcium", "dependent", "adhesion", "protein", "calcium dependent", "dependent adhesion", "adhesion protein", "calcium dependent adhesion", "dependent adhesion protein", "protein neuronal", "calcium dependent adhesion protein", "adhesion protein neuronal", "dependent adhesion protein neuronal" ] }, { "record_id": "MONDO:0859262", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859262", "0859262", "mim:619959", "619959" ] }, { "record_id": "MONDO:0859262", "record_type": "disease", "section": "disease_name", "phraselist": [ "acces", "syndrome", "acces syndrome", "uba2", "related", "neurodevelopmental", "disorder", "aplasia", "cutis", "congenita", "with", "ectrodactyly", "skeletal", "uba2 related", "related neurodevelopmental", "neurodevelopmental disorder", "aplasia cutis", "cutis congenita", "congenita with", "with ectrodactyly", "ectrodactyly skeletal", "skeletal syndrome", "uba2 related neurodevelopmental", "related neurodevelopmental disorder", "disorder aplasia", "aplasia cutis congenita", "cutis congenita with", "congenita with ectrodactyly", "with ectrodactyly skeletal", "ectrodactyly skeletal syndrome", "uba2 related neurodevelopmental disorder", "neurodevelopmental disorder aplasia", "disorder aplasia cutis", "aplasia cutis congenita with", "cutis congenita with ectrodactyly", "congenita with ectrodactyly skeletal", "with ectrodactyly skeletal syndrome", "related neurodevelopmental disorder aplasia", "neurodevelopmental disorder aplasia cutis", "disorder aplasia cutis congenita", "aplasia cutis congenita with ectrodactyly", "cutis congenita with ectrodactyly skeletal", "congenita with ectrodactyly skeletal syndrome" ] }, { "record_id": "MONDO:0859262", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859262", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ubt2", "q9ubt2 1", "sae2_human", "np_005490", "glycoprotein", "uba2", "acces", "arx", "hrihfb2115", "sae2", "uble1b" ] }, { "record_id": "MONDO:0859262", "record_type": "disease", "section": "proteins", "phraselist": [ "sumo", "activating", "enzyme", "subunit", "sumo activating", "activating enzyme", "enzyme subunit", "subunit 2", "sumo activating enzyme", "activating enzyme subunit", "enzyme subunit 2", "sumo activating enzyme subunit", "activating enzyme subunit 2", "sumo activating enzyme subunit 2", "2.3.2.", "anthracycline", "associated", "resistance", "arx", "anthracycline associated", "associated resistance", "resistance arx", "anthracycline associated resistance", "associated resistance arx", "anthracycline associated resistance arx", "sumo 1", "1 activating", "sumo 1 activating", "1 activating enzyme", "sumo 1 activating enzyme", "1 activating enzyme subunit", "sumo 1 activating enzyme subunit", "1 activating enzyme subunit 2", "isoform", "2 isoform", "isoform 1", "subunit 2 isoform", "2 isoform 1", "enzyme subunit 2 isoform", "subunit 2 isoform 1", "activating enzyme subunit 2 isoform", "enzyme subunit 2 isoform 1", "sumo1", "sumo1 activating", "sumo1 activating enzyme", "sumo1 activating enzyme subunit", "sumo1 activating enzyme subunit 2", "uba2", "ubiquitin", "e1", "homolog", "ubiquitin activating", "enzyme e1", "e1 homolog", "uba2 ubiquitin", "ubiquitin activating enzyme", "activating enzyme e1", "enzyme e1 homolog", "uba2 ubiquitin activating", "ubiquitin activating enzyme e1", "activating enzyme e1 homolog", "uba2 ubiquitin activating enzyme", "ubiquitin activating enzyme e1 homolog", "like", "e1b", "ubiquitin like", "like 1", "enzyme e1b", "ubiquitin like 1", "like 1 activating", "activating enzyme e1b", "ubiquitin like 1 activating", "like 1 activating enzyme", "1 activating enzyme e1b", "ubiquitin like 1 activating enzyme", "like 1 activating enzyme e1b", "modifier", "like modifier", "modifier activating", "enzyme 2", "ubiquitin like modifier", "like modifier activating", "modifier activating enzyme", "activating enzyme 2", "ubiquitin like modifier activating", "like modifier activating enzyme", "modifier activating enzyme 2", "ubiquitin like modifier activating enzyme", "like modifier activating enzyme 2" ] }, { "record_id": "MONDO:0859263", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859263", "0859263", "mim:619964", "619964" ] }, { "record_id": "MONDO:0859263", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "delay", "impaired", "speech", "and", "behavioral", "abnormalities", "with", "or", "without", "seizures", "developmental delay", "impaired speech", "and behavioral", "behavioral abnormalities", "with or", "or without", "without seizures", "delay impaired", "speech and", "and behavioral abnormalities", "abnormalities with", "with or without", "or without seizures", "developmental delay impaired", "delay impaired speech", "impaired speech and", "speech and behavioral", "behavioral abnormalities with", "abnormalities with or", "with or without seizures", "developmental delay impaired speech", "impaired speech and behavioral", "speech and behavioral abnormalities", "and behavioral abnormalities with", "behavioral abnormalities with or", "abnormalities with or without" ] }, { "record_id": "MONDO:0859263", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859263", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y6d6", "q9y6d6 1", "big1_human", "np_006412", "glycoprotein", "arfgef1", "arfgep1", "big1", "dedisb", "p200" ] }, { "record_id": "MONDO:0859263", "record_type": "disease", "section": "proteins", "phraselist": [ "brefeldin", "inhibited", "guanine", "nucleotide", "exchange", "protein", "brefeldin a", "a inhibited", "inhibited guanine", "guanine nucleotide", "nucleotide exchange", "exchange protein", "protein 1", "brefeldin a inhibited", "a inhibited guanine", "inhibited guanine nucleotide", "guanine nucleotide exchange", "nucleotide exchange protein", "exchange protein 1", "brefeldin a inhibited guanine", "a inhibited guanine nucleotide", "inhibited guanine nucleotide exchange", "guanine nucleotide exchange protein", "nucleotide exchange protein 1", "brefeldin a inhibited guanine nucleotide", "a inhibited guanine nucleotide exchange", "inhibited guanine nucleotide exchange protein", "guanine nucleotide exchange protein 1", "adp", "ribosylation", "factor", "adp ribosylation", "ribosylation factor", "factor guanine", "exchange factor", "factor 1", "adp ribosylation factor", "ribosylation factor guanine", "factor guanine nucleotide", "nucleotide exchange factor", "exchange factor 1", "adp ribosylation factor guanine", "ribosylation factor guanine nucleotide", "factor guanine nucleotide exchange", "guanine nucleotide exchange factor", "nucleotide exchange factor 1", "adp ribosylation factor guanine nucleotide", "ribosylation factor guanine nucleotide exchange", "factor guanine nucleotide exchange factor", "guanine nucleotide exchange factor 1", "1 brefeldin", "factor 1 brefeldin", "1 brefeldin a", "exchange factor 1 brefeldin", "factor 1 brefeldin a", "1 brefeldin a inhibited", "gep", "inhibited gep", "gep 1", "a inhibited gep", "inhibited gep 1", "brefeldin a inhibited gep", "a inhibited gep 1", "brefeldin a inhibited gep 1", "isoform", "1 isoform", "isoform 1", "protein 1 isoform", "1 isoform 1", "exchange protein 1 isoform", "protein 1 isoform 1", "nucleotide exchange protein 1 isoform", "exchange protein 1 isoform 1", "p200", "arf", "p200 arf", "arf guanine", "p200 arf guanine", "arf guanine nucleotide", "p200 arf guanine nucleotide", "arf guanine nucleotide exchange", "p200 arf guanine nucleotide exchange", "arf guanine nucleotide exchange factor", "gep1", "arf gep1", "p200 arf gep1" ] }, { "record_id": "MONDO:0859264", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859264", "0859264", "mim:619967", "619967" ] }, { "record_id": "MONDO:0859264", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "myopathy", "11", "congenital myopathy", "myopathy 11", "congenital myopathy 11" ] }, { "record_id": "MONDO:0859264", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859264", "record_type": "disease", "section": "proteins", "phraselist": [ "b0yj81", "b0yj81 1", "hacd1_human", "np_055056", "glycoprotein", "hacd1", "cap", "cmyo11", "cmyp11", "myonp", "ptpla" ] }, { "record_id": "MONDO:0859264", "record_type": "disease", "section": "proteins", "phraselist": [ "very", "long", "chain", "3r", "hydroxyacyl", "coa", "dehydratase", "very long", "long chain", "3 hydroxyacyl", "hydroxyacyl coa", "coa dehydratase", "dehydratase 1", "very long chain", "chain 3r", "3r 3", "3 hydroxyacyl coa", "hydroxyacyl coa dehydratase", "coa dehydratase 1", "long chain 3r", "3r 3 hydroxyacyl", "3 hydroxyacyl coa dehydratase", "hydroxyacyl coa dehydratase 1", "very long chain 3r", "chain 3r 3", "3r 3 hydroxyacyl coa", "3 hydroxyacyl coa dehydratase 1", "4.2.1.134", "cap", "cementum", "attachment", "protein", "cementum attachment", "attachment protein", "cementum attachment protein", "hacd1", "tyrosine", "phosphatase", "like", "member", "protein tyrosine", "tyrosine phosphatase", "phosphatase like", "like member", "member a", "protein tyrosine phosphatase", "tyrosine phosphatase like", "phosphatase like member", "like member a", "protein tyrosine phosphatase like", "tyrosine phosphatase like member", "phosphatase like member a", "protein tyrosine phosphatase like member", "tyrosine phosphatase like member a", "proline", "instead", "of", "catalytic", "arginine", "proline instead", "instead of", "of catalytic", "catalytic arginine", "like proline", "proline instead of", "instead of catalytic", "of catalytic arginine", "phosphatase like proline", "like proline instead", "proline instead of catalytic", "instead of catalytic arginine", "arginine member", "tyrosine phosphatase like proline", "phosphatase like proline instead", "like proline instead of", "proline instead of catalytic arginine", "catalytic arginine member", "arginine member a", "acyl", "carrier", "acyl carrier", "carrier protein", "hydroxyacyl acyl", "acyl carrier protein", "protein dehydratase", "3 hydroxyacyl acyl", "hydroxyacyl acyl carrier", "carrier protein dehydratase", "protein dehydratase 1", "3 hydroxyacyl acyl carrier", "hydroxyacyl acyl carrier protein", "acyl carrier protein dehydratase", "carrier protein dehydratase 1" ] }, { "record_id": "MONDO:0859265", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859265", "0859265", "mim:619971", "619971" ] }, { "record_id": "MONDO:0859265", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "epilepsy", "and", "brain", "atrophy", "neurodevelopmental disorder", "disorder with", "with epilepsy", "epilepsy and", "and brain", "brain atrophy", "neurodevelopmental disorder with", "disorder with epilepsy", "with epilepsy and", "epilepsy and brain", "and brain atrophy", "neurodevelopmental disorder with epilepsy", "disorder with epilepsy and", "with epilepsy and brain", "epilepsy and brain atrophy", "neurodevelopmental disorder with epilepsy and", "disorder with epilepsy and brain", "with epilepsy and brain atrophy" ] }, { "record_id": "MONDO:0859265", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859265", "record_type": "disease", "section": "proteins", "phraselist": [ "q93050", "q93050 2", "vpp1_human", "np_001123492", "glycoprotein", "atp6v0a1", "atp6n1a", "atp6n1", "dee104", "nedeba", "stv1", "vpp1", "vph1", "a1" ] }, { "record_id": "MONDO:0859265", "record_type": "disease", "section": "proteins", "phraselist": [ "type", "proton", "atpase", "116", "kda", "subunit", "v type", "type proton", "proton atpase", "atpase 116", "116 kda", "kda subunit", "subunit a", "a 1", "v type proton", "type proton atpase", "proton atpase 116", "atpase 116 kda", "116 kda subunit", "kda subunit a", "subunit a 1", "v type proton atpase", "type proton atpase 116", "proton atpase 116 kda", "atpase 116 kda subunit", "116 kda subunit a", "kda subunit a 1", "v type proton atpase 116", "type proton atpase 116 kda", "proton atpase 116 kda subunit", "atpase 116 kda subunit a", "116 kda subunit a 1", "h+", "transporting", "lysosomal", "v0", "a1", "h+ transporting", "lysosomal v0", "v0 subunit", "subunit a1", "atpase h+", "transporting lysosomal", "lysosomal v0 subunit", "v0 subunit a1", "atpase h+ transporting", "h+ transporting lysosomal", "transporting lysosomal v0", "lysosomal v0 subunit a1", "h+ transporting lysosomal v0", "transporting lysosomal v0 subunit", "non", "catalytic", "accessory", "protein", "110/116kd", "lysosomal non", "non catalytic", "catalytic accessory", "accessory protein", "protein 1", "lysosomal non catalytic", "non catalytic accessory", "catalytic accessory protein", "accessory protein 1", "1 110/116kd", "transporting lysosomal non", "lysosomal non catalytic accessory", "non catalytic accessory protein", "catalytic accessory protein 1", "protein 1 110/116kd", "h+ transporting lysosomal non", "transporting lysosomal non catalytic", "lysosomal non catalytic accessory protein", "non catalytic accessory protein 1", "accessory protein 1 110/116kd", "clathrin", "coated", "vesicle/synaptic", "vesicle", "pump", "clathrin coated", "coated vesicle/synaptic", "vesicle/synaptic vesicle", "vesicle proton", "proton pump", "pump 116", "clathrin coated vesicle/synaptic", "coated vesicle/synaptic vesicle", "vesicle/synaptic vesicle proton", "vesicle proton pump", "proton pump 116", "pump 116 kda", "clathrin coated vesicle/synaptic vesicle", "coated vesicle/synaptic vesicle proton", "vesicle/synaptic vesicle proton pump", "vesicle proton pump 116", "proton pump 116 kda", "pump 116 kda subunit", "clathrin coated vesicle/synaptic vesicle proton", "coated vesicle/synaptic vesicle proton pump", "vesicle/synaptic vesicle proton pump 116", "vesicle proton pump 116 kda", "proton pump 116 kda subunit", "two", "sector", "h +", "transporting two", "two sector", "sector atpase", "kda accessory", "protein a1", "+ transporting", "transporting two sector", "two sector atpase", "116 kda accessory", "kda accessory protein", "accessory protein a1", "h + transporting", "+ transporting two", "transporting two sector atpase", "sector atpase 116", "116 kda accessory protein", "kda accessory protein a1", "h + transporting two", "+ transporting two sector", "two sector atpase 116", "sector atpase 116 kda", "atpase 116 kda accessory", "116 kda accessory protein a1", "v atpase", "v atpase 116", "v atpase 116 kda", "v atpase 116 kda subunit", "kda subunit a1", "116 kda subunit a1", "atpase 116 kda subunit a1", "atpase subunit", "v atpase subunit", "atpase subunit a1", "v atpase subunit a1", "isoform", "1 isoform", "isoform 2", "a 1 isoform", "1 isoform 2", "subunit a 1 isoform", "a 1 isoform 2", "kda subunit a 1 isoform", "subunit a 1 isoform 2", "vacuolar", "adenosine", "triphosphatase", "ac116", "vacuolar adenosine", "adenosine triphosphatase", "triphosphatase subunit", "subunit ac116", "vacuolar adenosine triphosphatase", "adenosine triphosphatase subunit", "triphosphatase subunit ac116", "vacuolar adenosine triphosphatase subunit", "adenosine triphosphatase subunit ac116", "vacuolar adenosine triphosphatase subunit ac116", "vacuolar proton", "pump subunit", "subunit 1", "vacuolar proton pump", "proton pump subunit", "pump subunit 1", "vacuolar proton pump subunit", "proton pump subunit 1", "vacuolar proton pump subunit 1", "translocating", "proton translocating", "translocating atpase", "a isoform", "isoform 1", "vacuolar proton translocating", "proton translocating atpase", "translocating atpase 116", "subunit a isoform", "a isoform 1", "vacuolar proton translocating atpase", "proton translocating atpase 116", "translocating atpase 116 kda", "kda subunit a isoform", "subunit a isoform 1", "vacuolar proton translocating atpase 116", "proton translocating atpase 116 kda", "translocating atpase 116 kda subunit", "116 kda subunit a isoform", "kda subunit a isoform 1", "115", "vacuolar type", "type h", "atpase 115", "115 kda", "vacuolar type h", "type h +", "+ atpase", "atpase 115 kda", "115 kda subunit", "vacuolar type h +", "h + atpase", "+ atpase 115", "atpase 115 kda subunit", "type h + atpase", "h + atpase 115", "+ atpase 115 kda" ] }, { "record_id": "MONDO:0859266", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859266", "0859266", "mim:619972", "619972" ] }, { "record_id": "MONDO:0859266", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "severe", "motor", "impairment", "absent", "language", "cerebral", "hypomyelination", "and", "brain", "atrophy", "neurodevelopmental disorder", "disorder with", "with severe", "severe motor", "motor impairment", "absent language", "cerebral hypomyelination", "and brain", "brain atrophy", "neurodevelopmental disorder with", "disorder with severe", "with severe motor", "severe motor impairment", "impairment absent", "language cerebral", "hypomyelination and", "and brain atrophy", "neurodevelopmental disorder with severe", "disorder with severe motor", "with severe motor impairment", "motor impairment absent", "impairment absent language", "absent language cerebral", "language cerebral hypomyelination", "cerebral hypomyelination and", "hypomyelination and brain", "neurodevelopmental disorder with severe motor", "disorder with severe motor impairment", "severe motor impairment absent", "motor impairment absent language", "absent language cerebral hypomyelination", "cerebral hypomyelination and brain", "hypomyelination and brain atrophy" ] }, { "record_id": "MONDO:0859266", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859266", "record_type": "disease", "section": "proteins", "phraselist": [ "q7z7c8", "q7z7c8 1", "taf8_human", "np_612639", "glycoprotein", "taf8", "ii", "nedmlhb", "taf", "43", "taf ii", "ii 43", "taf ii 43", "tafii", "tafii 43", "tafii43", "tbn" ] }, { "record_id": "MONDO:0859266", "record_type": "disease", "section": "proteins", "phraselist": [ "transcription", "initiation", "factor", "tfiid", "subunit", "transcription initiation", "initiation factor", "factor tfiid", "tfiid subunit", "subunit 8", "transcription initiation factor", "initiation factor tfiid", "factor tfiid subunit", "tfiid subunit 8", "transcription initiation factor tfiid", "initiation factor tfiid subunit", "factor tfiid subunit 8", "transcription initiation factor tfiid subunit", "initiation factor tfiid subunit 8", "protein", "taube", "nuss", "protein taube", "taube nuss", "protein taube nuss", "taf8", "rna", "polymerase", "ii", "tata", "box", "binding", "tbp", "associated", "43kda", "taf8 rna", "rna polymerase", "polymerase ii", "tata box", "box binding", "binding protein", "associated factor", "taf8 rna polymerase", "rna polymerase ii", "ii tata", "tata box binding", "box binding protein", "protein tbp", "tbp associated", "factor 43kda", "taf8 rna polymerase ii", "polymerase ii tata", "ii tata box", "tata box binding protein", "binding protein tbp", "tbp associated factor", "associated factor 43kda", "rna polymerase ii tata", "polymerase ii tata box", "ii tata box binding", "box binding protein tbp", "protein tbp associated", "tafii", "43", "tafii 43", "tafii43", "45/50kda", "factor rna", "ii a", "a 45/50kda", "associated factor rna", "factor rna polymerase", "polymerase ii a", "associated factor rna polymerase", "factor rna polymerase ii", "rna polymerase ii a", "ii a 45/50kda", "kda", "factor 43", "43 kda", "associated factor 43", "factor 43 kda", "tbp associated factor 43", "associated factor 43 kda", "tbp associated factor 43 kda", "factor 8", "associated factor 8", "tbp associated factor 8", "factor tafii43", "associated factor tafii43", "tbp associated factor tafii43", "kd", "43 kd", "ii 43", "polymerase ii 43", "ii 43 kd", "tbp associated factor rna", "rna polymerase ii 43", "polymerase ii 43 kd", "tfiid 43", "kda subunit", "factor tfiid 43", "tfiid 43 kda", "43 kda subunit", "initiation factor tfiid 43", "factor tfiid 43 kda", "tfiid 43 kda subunit", "transcription initiation factor tfiid 43", "initiation factor tfiid 43 kda", "factor tfiid 43 kda subunit", "htafii43", "homolog", "nuss homolog", "taube nuss homolog", "isoform", "8 isoform", "isoform 1", "subunit 8 isoform", "8 isoform 1", "tfiid subunit 8 isoform", "subunit 8 isoform 1", "factor tfiid subunit 8 isoform", "tfiid subunit 8 isoform 1" ] }, { "record_id": "MONDO:0859267", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859267", "0859267", "mim:619975", "619975" ] }, { "record_id": "MONDO:0859267", "record_type": "disease", "section": "disease_name", "phraselist": [ "tumor", "predisposition", "syndrome", "tumor predisposition", "predisposition syndrome", "syndrome 2", "tumor predisposition syndrome", "predisposition syndrome 2", "tumor predisposition syndrome 2", "mans", "mbd4", "associated", "neoplasia", "mbd4 associated", "associated neoplasia", "neoplasia syndrome", "mbd4 associated neoplasia", "associated neoplasia syndrome", "mbd4 associated neoplasia syndrome", "related", "recessive", "mbd4 related", "related recessive", "recessive tumor", "mbd4 related recessive", "related recessive tumor", "recessive tumor predisposition", "mbd4 related recessive tumor", "related recessive tumor predisposition", "recessive tumor predisposition syndrome", "mbd4 related recessive tumor predisposition", "related recessive tumor predisposition syndrome", "tpds2" ] }, { "record_id": "MONDO:0859267", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859267", "record_type": "disease", "section": "proteins", "phraselist": [ "o95243", "o95243 1", "mbd4_human", "np_001263199", "glycoprotein", "mbd4", "med1", "tpds2", "uvm1" ] }, { "record_id": "MONDO:0859267", "record_type": "disease", "section": "proteins", "phraselist": [ "methyl", "cpg", "binding", "domain", "protein", "methyl cpg", "cpg binding", "binding domain", "domain protein", "protein 4", "methyl cpg binding", "cpg binding domain", "binding domain protein", "domain protein 4", "methyl cpg binding domain", "cpg binding domain protein", "binding domain protein 4", "methyl cpg binding domain protein", "cpg binding domain protein 4", "ethenocytosine", "glycosylase", "3 n", "n 4", "ethenocytosine glycosylase", "3 n 4", "4 ethenocytosine", "n 4 ethenocytosine", "4 ethenocytosine glycosylase", "3 n 4 ethenocytosine", "n 4 ethenocytosine glycosylase", "3.2.2.", "g/5", "fluorouracil", "mismatch", "with", "biphasic", "kinetics", "g/5 fluorouracil", "fluorouracil mismatch", "mismatch glycosylase", "glycosylase with", "with biphasic", "biphasic kinetics", "g/5 fluorouracil mismatch", "fluorouracil mismatch glycosylase", "mismatch glycosylase with", "glycosylase with biphasic", "with biphasic kinetics", "g/5 fluorouracil mismatch glycosylase", "fluorouracil mismatch glycosylase with", "mismatch glycosylase with biphasic", "glycosylase with biphasic kinetics", "g/5 fluorouracil mismatch glycosylase with", "fluorouracil mismatch glycosylase with biphasic", "mismatch glycosylase with biphasic kinetics", "g/t", "g/t mismatch", "g/t mismatch glycosylase", "g/u", "g/u mismatch", "g/u mismatch glycosylase", "endonuclease", "binding endonuclease", "endonuclease 1", "cpg binding endonuclease", "binding endonuclease 1", "methyl cpg binding endonuclease", "cpg binding endonuclease 1", "methyl cpg binding endonuclease 1", "mbd4", "binding protein", "protein mbd4", "cpg binding protein", "binding protein mbd4", "methyl cpg binding protein", "cpg binding protein mbd4", "methyl cpg binding protein mbd4", "specific", "dna", "mismatch specific", "specific dna", "dna n", "n glycosylase", "mismatch specific dna", "specific dna n", "dna n glycosylase", "mismatch specific dna n", "specific dna n glycosylase", "mismatch specific dna n glycosylase", "isoform", "4 isoform", "isoform 2", "protein 4 isoform", "4 isoform 2", "domain protein 4 isoform", "protein 4 isoform 2", "binding domain protein 4 isoform", "domain protein 4 isoform 2", "putative", "putative methyl", "putative methyl cpg", "putative methyl cpg binding", "putative methyl cpg binding protein" ] }, { "record_id": "MONDO:0859271", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859271", "0859271", "mim:619985", "619985" ] }, { "record_id": "MONDO:0859271", "record_type": "disease", "section": "disease_name", "phraselist": [ "glycosylphosphatidylinositol", "biosynthesis", "defect", "25", "glycosylphosphatidylinositol biosynthesis", "biosynthesis defect", "defect 25", "glycosylphosphatidylinositol biosynthesis defect", "biosynthesis defect 25", "glycosylphosphatidylinositol biosynthesis defect 25" ] }, { "record_id": "MONDO:0859271", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859271", "record_type": "disease", "section": "proteins", "phraselist": [ "q8tcd1", "q8tcd1 1", "cr032_human", "np_001030177", "c18orf32", "gpibd25" ] }, { "record_id": "MONDO:0859271", "record_type": "disease", "section": "proteins", "phraselist": [ "upf0729", "protein", "c18orf32", "upf0729 protein", "protein c18orf32", "upf0729 protein c18orf32", "putative", "nf", "kappa", "activating", "200", "putative nf", "nf kappa", "kappa b", "b activating", "activating protein", "protein 200", "putative nf kappa", "nf kappa b", "kappa b activating", "b activating protein", "activating protein 200", "putative nf kappa b", "nf kappa b activating", "kappa b activating protein", "b activating protein 200", "putative nf kappa b activating", "nf kappa b activating protein", "kappa b activating protein 200", "nfkb", "putative nfkb", "nfkb activating", "putative nfkb activating", "nfkb activating protein", "putative nfkb activating protein" ] }, { "record_id": "MONDO:0859272", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859272", "0859272", "mim:619989", "619989" ] }, { "record_id": "MONDO:0859272", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "speech", "delay", "and", "variable", "ocular", "anomalies", "neurodevelopmental disorder", "disorder with", "with speech", "speech delay", "delay and", "and variable", "variable ocular", "ocular anomalies", "neurodevelopmental disorder with", "disorder with speech", "with speech delay", "speech delay and", "delay and variable", "and variable ocular", "variable ocular anomalies", "neurodevelopmental disorder with speech", "disorder with speech delay", "with speech delay and", "speech delay and variable", "delay and variable ocular", "and variable ocular anomalies", "neurodevelopmental disorder with speech delay", "disorder with speech delay and", "with speech delay and variable", "speech delay and variable ocular", "delay and variable ocular anomalies" ] }, { "record_id": "MONDO:0859272", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859272", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nxg2", "q9nxg2 1", "thum1_human", "np_001291479", "glycoprotein", "thumpd1", "nedsoa", "tan1" ] }, { "record_id": "MONDO:0859272", "record_type": "disease", "section": "proteins", "phraselist": [ "thump", "domain", "containing", "protein", "thump domain", "domain containing", "containing protein", "protein 1", "thump domain containing", "domain containing protein", "containing protein 1", "thump domain containing protein", "domain containing protein 1", "thump domain containing protein 1", "containing 1", "domain containing 1", "thump domain containing 1" ] }, { "record_id": "MONDO:0859273", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859273", "0859273", "mim:619991", "619991" ] }, { "record_id": "MONDO:0859273", "record_type": "disease", "section": "disease_name", "phraselist": [ "liver", "disease", "severe", "congenital", "liver disease", "severe congenital", "disease severe", "liver disease severe", "disease severe congenital", "liver disease severe congenital" ] }, { "record_id": "MONDO:0859273", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859273", "record_type": "disease", "section": "proteins", "phraselist": [ "q5vw36", "q5vw36 1", "focad_human", "np_060264", "glycoprotein", "focad", "kiaa1797", "scoliv" ] }, { "record_id": "MONDO:0859273", "record_type": "disease", "section": "proteins", "phraselist": [ "focadhesin", "isoform", "focadhesin isoform", "isoform 1", "focadhesin isoform 1" ] }, { "record_id": "MONDO:0859274", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859274", "0859274", "mim:619995", "619995" ] }, { "record_id": "MONDO:0859274", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "intention", "tremor", "pyramidal", "signs", "dyspraxia", "and", "ocular", "anomalies", "neurodevelopmental disorder", "disorder with", "with intention", "intention tremor", "pyramidal signs", "and ocular", "ocular anomalies", "neurodevelopmental disorder with", "disorder with intention", "with intention tremor", "tremor pyramidal", "signs dyspraxia", "dyspraxia and", "and ocular anomalies", "neurodevelopmental disorder with intention", "disorder with intention tremor", "intention tremor pyramidal", "tremor pyramidal signs", "pyramidal signs dyspraxia", "dyspraxia and ocular", "neurodevelopmental disorder with intention tremor", "with intention tremor pyramidal", "intention tremor pyramidal signs", "signs dyspraxia and", "dyspraxia and ocular anomalies" ] }, { "record_id": "MONDO:0859274", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859274", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h0w8", "q9h0w8 1", "smg9_human", "np_061981", "glycoprotein", "smg9", "c19orf61", "f17127_1", "hbms", "neditpo" ] }, { "record_id": "MONDO:0859274", "record_type": "disease", "section": "proteins", "phraselist": [ "nonsense", "mediated", "mrna", "decay", "factor", "smg9", "nonsense mediated", "mediated mrna", "mrna decay", "decay factor", "factor smg9", "nonsense mediated mrna", "mediated mrna decay", "mrna decay factor", "decay factor smg9", "nonsense mediated mrna decay", "mediated mrna decay factor", "mrna decay factor smg9", "nonsense mediated mrna decay factor", "mediated mrna decay factor smg9", "protein", "smg", "homolog", "protein smg", "smg 9", "9 homolog", "protein smg 9", "smg 9 homolog", "protein smg 9 homolog" ] }, { "record_id": "MONDO:0859275", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859275", "0859275", "mim:620001", "620001" ] }, { "record_id": "MONDO:0859275", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "spasticity", "seizures", "and", "brain", "abnormalities", "neurodevelopmental disorder", "disorder with", "with spasticity", "and brain", "brain abnormalities", "neurodevelopmental disorder with", "disorder with spasticity", "spasticity seizures", "seizures and", "and brain abnormalities", "neurodevelopmental disorder with spasticity", "with spasticity seizures", "seizures and brain", "disorder with spasticity seizures", "spasticity seizures and", "seizures and brain abnormalities" ] }, { "record_id": "MONDO:0859275", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859275", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h0g5", "q9h0g5 1", "nsrp1_human", "np_001248396", "glycoprotein", "nsrp1", "ccdc55", "hspc095", "nedssba", "nsrp70" ] }, { "record_id": "MONDO:0859275", "record_type": "disease", "section": "proteins", "phraselist": [ "nuclear", "speckle", "splicing", "regulatory", "protein", "nuclear speckle", "speckle splicing", "splicing regulatory", "regulatory protein", "protein 1", "nuclear speckle splicing", "speckle splicing regulatory", "splicing regulatory protein", "regulatory protein 1", "nuclear speckle splicing regulatory", "speckle splicing regulatory protein", "splicing regulatory protein 1", "nuclear speckle splicing regulatory protein", "speckle splicing regulatory protein 1", "coiled", "coil", "domain", "containing", "55", "coiled coil", "coil domain", "domain containing", "containing protein", "protein 55", "coiled coil domain", "coil domain containing", "domain containing protein", "containing protein 55", "coiled coil domain containing", "coil domain containing protein", "domain containing protein 55", "coiled coil domain containing protein", "coil domain containing protein 55", "nsrp70", "related", "70", "speckle related", "related protein", "protein 70", "nuclear speckle related", "speckle related protein", "related protein 70", "nuclear speckle related protein", "speckle related protein 70", "nuclear speckle related protein 70", "containing 55", "domain containing 55", "coil domain containing 55", "coiled coil domain containing 55", "isoform", "1 isoform", "isoform 2", "protein 1 isoform", "1 isoform 2", "regulatory protein 1 isoform", "protein 1 isoform 2", "splicing regulatory protein 1 isoform", "regulatory protein 1 isoform 2" ] }, { "record_id": "MONDO:0859276", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859276", "0859276", "mim:620005", "620005" ] }, { "record_id": "MONDO:0859276", "record_type": "disease", "section": "disease_name", "phraselist": [ "primordial", "dwarfism", "immunodeficiency", "lipodystrophy", "syndrome", "primordial dwarfism", "dwarfism immunodeficiency", "immunodeficiency lipodystrophy", "lipodystrophy syndrome", "primordial dwarfism immunodeficiency", "dwarfism immunodeficiency lipodystrophy", "immunodeficiency lipodystrophy syndrome", "primordial dwarfism immunodeficiency lipodystrophy", "dwarfism immunodeficiency lipodystrophy syndrome", "primordial dwarfism immunodeficiency lipodystrophy syndrome" ] }, { "record_id": "MONDO:0859276", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859276", "record_type": "disease", "section": "proteins", "phraselist": [ "p49642", "p49642 1", "pri1_human", "np_000937", "glycoprotein", "prim1", "pdil", "p49" ] }, { "record_id": "MONDO:0859276", "record_type": "disease", "section": "proteins", "phraselist": [ "dna", "primase", "small", "subunit", "dna primase", "primase small", "small subunit", "dna primase small", "primase small subunit", "dna primase small subunit", "2.7.7.102", "primase 1", "dna primase 1", "49", "kda", "primase 49", "49 kda", "kda subunit", "dna primase 49", "primase 49 kda", "49 kda subunit", "dna primase 49 kda", "primase 49 kda subunit", "dna primase 49 kda subunit", "48", "primase subunit", "subunit 48", "dna primase subunit", "primase subunit 48", "dna primase subunit 48", "p49", "subunit 1", "primase dna", "dna subunit", "dna subunit 1", "primase dna subunit", "primase p49", "p49 subunit", "primase p49 subunit", "polypeptide", "49kda", "primase polypeptide", "polypeptide 1", "primase polypeptide 1", "1 49kda", "polypeptide 1 49kda", "primase polypeptide 1 49kda", "dna polypeptide", "dna polypeptide 1", "primase dna polypeptide" ] }, { "record_id": "MONDO:0859277", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859277", "0859277", "mim:620007", "620007" ] }, { "record_id": "MONDO:0859277", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "muscle", "tone", "abnormalities", "and", "distal", "skeletal", "defects", "intellectual developmental", "developmental disorder", "disorder with", "with muscle", "muscle tone", "tone abnormalities", "abnormalities and", "and distal", "distal skeletal", "skeletal defects", "intellectual developmental disorder", "developmental disorder with", "disorder with muscle", "with muscle tone", "muscle tone abnormalities", "tone abnormalities and", "abnormalities and distal", "and distal skeletal", "distal skeletal defects", "intellectual developmental disorder with", "developmental disorder with muscle", "disorder with muscle tone", "with muscle tone abnormalities", "muscle tone abnormalities and", "tone abnormalities and distal", "abnormalities and distal skeletal", "and distal skeletal defects", "intellectual developmental disorder with muscle", "developmental disorder with muscle tone", "disorder with muscle tone abnormalities", "with muscle tone abnormalities and", "muscle tone abnormalities and distal", "tone abnormalities and distal skeletal", "abnormalities and distal skeletal defects" ] }, { "record_id": "MONDO:0859277", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859277", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n145", "q8n145 1", "lgi3_human", "np_644807", "glycoprotein", "lgi3", "iddmds", "lgil4", "pro23199" ] }, { "record_id": "MONDO:0859277", "record_type": "disease", "section": "proteins", "phraselist": [ "leucine", "rich", "repeat", "lgi", "family", "member", "leucine rich", "rich repeat", "repeat lgi", "lgi family", "family member", "member 3", "leucine rich repeat", "rich repeat lgi", "repeat lgi family", "lgi family member", "family member 3", "leucine rich repeat lgi", "rich repeat lgi family", "repeat lgi family member", "lgi family member 3", "leucine rich repeat lgi family", "rich repeat lgi family member", "repeat lgi family member 3", "lgi1", "like", "protein", "lgi1 like", "like protein", "protein 4", "lgi1 like protein", "like protein 4", "lgi1 like protein 4", "glioma", "inactivated", "rich glioma", "glioma inactivated", "inactivated protein", "protein 3", "leucine rich glioma", "rich glioma inactivated", "glioma inactivated protein", "inactivated protein 3", "leucine rich glioma inactivated", "rich glioma inactivated protein", "glioma inactivated protein 3", "leucine rich glioma inactivated protein", "rich glioma inactivated protein 3", "precursor", "3 precursor", "member 3 precursor", "family member 3 precursor", "lgi family member 3 precursor" ] }, { "record_id": "MONDO:0859278", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859278", "0859278", "mim:620009", "620009" ] }, { "record_id": "MONDO:0859278", "record_type": "disease", "section": "disease_name", "phraselist": [ "keratoderma", "ichthyosis", "deafness", "syndrome", "autosomal", "recessive", "keratoderma ichthyosis", "ichthyosis deafness", "deafness syndrome", "autosomal recessive", "keratoderma ichthyosis deafness", "ichthyosis deafness syndrome", "syndrome autosomal", "keratoderma ichthyosis deafness syndrome", "deafness syndrome autosomal", "syndrome autosomal recessive", "ichthyosis deafness syndrome autosomal", "deafness syndrome autosomal recessive" ] }, { "record_id": "MONDO:0859278", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859278", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h267", "q9h267 1", "vp33b_human", "np_001276078", "glycoprotein", "vps33b", "kdidar", "pfic12" ] }, { "record_id": "MONDO:0859278", "record_type": "disease", "section": "proteins", "phraselist": [ "vacuolar", "protein", "sorting", "associated", "33b", "vacuolar protein", "protein sorting", "sorting associated", "associated protein", "protein 33b", "vacuolar protein sorting", "protein sorting associated", "sorting associated protein", "associated protein 33b", "vacuolar protein sorting associated", "protein sorting associated protein", "sorting associated protein 33b", "vacuolar protein sorting associated protein", "protein sorting associated protein 33b", "hvps33b", "33", "homolog", "sorting 33", "33 homolog", "homolog b", "protein sorting 33", "sorting 33 homolog", "33 homolog b", "vacuolar protein sorting 33", "protein sorting 33 homolog", "sorting 33 homolog b", "vacuolar protein sorting 33 homolog", "protein sorting 33 homolog b", "like", "33 like", "like protein", "protein b", "sorting 33 like", "33 like protein", "like protein b", "protein sorting 33 like", "sorting 33 like protein", "33 like protein b", "vacuolar protein sorting 33 like", "protein sorting 33 like protein", "sorting 33 like protein b", "isoform", "33b isoform", "isoform 3", "protein 33b isoform", "33b isoform 3", "associated protein 33b isoform", "protein 33b isoform 3", "sorting associated protein 33b isoform", "associated protein 33b isoform 3" ] }, { "record_id": "MONDO:0859281", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859281", "0859281", "mim:620021", "620021" ] }, { "record_id": "MONDO:0859281", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "autism", "and", "dysmorphic", "facies", "intellectual developmental", "developmental disorder", "disorder with", "with autism", "autism and", "and dysmorphic", "dysmorphic facies", "intellectual developmental disorder", "developmental disorder with", "disorder with autism", "with autism and", "autism and dysmorphic", "and dysmorphic facies", "intellectual developmental disorder with", "developmental disorder with autism", "disorder with autism and", "with autism and dysmorphic", "autism and dysmorphic facies", "intellectual developmental disorder with autism", "developmental disorder with autism and", "disorder with autism and dysmorphic", "with autism and dysmorphic facies" ] }, { "record_id": "MONDO:0859281", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859281", "record_type": "disease", "section": "proteins", "phraselist": [ "q8nen9", "q8nen9 1", "pdzd8_human", "np_776152", "glycoprotein", "pdzd8", "iddadf", "lyvac", "pdzk8" ] }, { "record_id": "MONDO:0859281", "record_type": "disease", "section": "proteins", "phraselist": [ "pdz", "domain", "containing", "protein", "pdz domain", "domain containing", "containing protein", "protein 8", "pdz domain containing", "domain containing protein", "containing protein 8", "pdz domain containing protein", "domain containing protein 8", "pdz domain containing protein 8", "lyvac", "lysosomal", "vacuolator", "lysosomal vacuolator", "sarcoma", "antigen", "ny", "sar", "84/ny", "104", "sarcoma antigen", "antigen ny", "ny sar", "sar 84/ny", "84/ny sar", "sar 104", "sarcoma antigen ny", "antigen ny sar", "ny sar 84/ny", "sar 84/ny sar", "84/ny sar 104", "sarcoma antigen ny sar", "antigen ny sar 84/ny", "ny sar 84/ny sar", "sar 84/ny sar 104", "sarcoma antigen ny sar 84/ny", "antigen ny sar 84/ny sar", "ny sar 84/ny sar 104" ] }, { "record_id": "MONDO:0859282", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859282", "0859282", "mim:620023", "620023" ] }, { "record_id": "MONDO:0859282", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "movement", "abnormalities", "and", "seizures", "neurodevelopmental disorder", "disorder with", "with microcephaly", "movement abnormalities", "and seizures", "neurodevelopmental disorder with", "disorder with microcephaly", "microcephaly movement", "abnormalities and", "neurodevelopmental disorder with microcephaly", "with microcephaly movement", "microcephaly movement abnormalities", "movement abnormalities and", "abnormalities and seizures", "disorder with microcephaly movement", "with microcephaly movement abnormalities", "movement abnormalities and seizures" ] }, { "record_id": "MONDO:0859282", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859282", "record_type": "disease", "section": "proteins", "phraselist": [ "p35790", "p35790 1", "chka_human", "np_001268", "chka", "chk", "cki", "ck", "ek", "nedmims" ] }, { "record_id": "MONDO:0859282", "record_type": "disease", "section": "proteins", "phraselist": [ "choline", "kinase", "alpha", "choline kinase", "kinase alpha", "choline kinase alpha", "2.7.1.32", "2.7.1.82", "chetk", "chetk alpha", "ck", "ek", "ethanolamine", "ethanolamine kinase", "isoform", "alpha isoform", "isoform a", "kinase alpha isoform", "alpha isoform a", "choline kinase alpha isoform", "kinase alpha isoform a", "choline kinase alpha isoform a" ] }, { "record_id": "MONDO:0859283", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859283", "0859283", "mim:620024", "620024" ] }, { "record_id": "MONDO:0859283", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "seizures", "microcephaly", "and", "brain", "abnormalities", "neurodevelopmental disorder", "disorder with", "with seizures", "and brain", "brain abnormalities", "neurodevelopmental disorder with", "disorder with seizures", "seizures microcephaly", "microcephaly and", "and brain abnormalities", "neurodevelopmental disorder with seizures", "with seizures microcephaly", "microcephaly and brain", "disorder with seizures microcephaly", "seizures microcephaly and", "microcephaly and brain abnormalities" ] }, { "record_id": "MONDO:0859283", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859283", "record_type": "disease", "section": "proteins", "phraselist": [ "q86w92", "q86w92 1", "lipb1_human", "np_001185844", "glycoprotein", "ppfibp1", "kiaa1230", "l2", "nedsmba", "sgt2", "hsgt2", "hsgt2p" ] }, { "record_id": "MONDO:0859283", "record_type": "disease", "section": "proteins", "phraselist": [ "liprin", "beta", "liprin beta", "beta 1", "liprin beta 1", "ppfia", "binding", "protein", "ppfia binding", "binding protein", "protein 1", "ppfia binding protein", "binding protein 1", "ppfia binding protein 1", "ptprf", "interacting", "ptprf interacting", "interacting protein", "ptprf interacting protein", "protein binding", "1 liprin", "interacting protein binding", "protein binding protein", "protein 1 liprin", "1 liprin beta", "ptprf interacting protein binding", "interacting protein binding protein", "protein binding protein 1", "binding protein 1 liprin", "protein 1 liprin beta", "1 liprin beta 1", "ptprf interacting protein binding protein", "interacting protein binding protein 1", "tyrosine", "phosphatase", "receptor", "type", "polypeptide", "protein tyrosine", "tyrosine phosphatase", "phosphatase receptor", "receptor type", "type f", "f polypeptide", "polypeptide interacting", "protein tyrosine phosphatase", "tyrosine phosphatase receptor", "phosphatase receptor type", "receptor type f", "type f polypeptide", "f polypeptide interacting", "polypeptide interacting protein", "protein tyrosine phosphatase receptor", "tyrosine phosphatase receptor type", "phosphatase receptor type f", "receptor type f polypeptide", "type f polypeptide interacting", "f polypeptide interacting protein", "polypeptide interacting protein binding", "protein tyrosine phosphatase receptor type", "tyrosine phosphatase receptor type f", "phosphatase receptor type f polypeptide", "receptor type f polypeptide interacting", "type f polypeptide interacting protein", "f polypeptide interacting protein binding", "polypeptide interacting protein binding protein", "hsgt2", "related", "liprin related", "related protein", "liprin related protein", "isoform", "1 isoform", "isoform 3", "beta 1 isoform", "1 isoform 3", "liprin beta 1 isoform", "beta 1 isoform 3", "liprin beta 1 isoform 3", "beta1", "liprin beta1" ] }, { "record_id": "MONDO:0859285", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859285", "0859285", "mim:620027", "620027" ] }, { "record_id": "MONDO:0859285", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "short", "stature", "and", "speech", "delay", "neurodevelopmental disorder", "disorder with", "with microcephaly", "short stature", "and speech", "speech delay", "neurodevelopmental disorder with", "disorder with microcephaly", "microcephaly short", "stature and", "and speech delay", "neurodevelopmental disorder with microcephaly", "with microcephaly short", "microcephaly short stature", "short stature and", "stature and speech", "disorder with microcephaly short", "with microcephaly short stature", "short stature and speech", "stature and speech delay" ] }, { "record_id": "MONDO:0859285", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859285", "record_type": "disease", "section": "proteins", "phraselist": [ "p48553", "p48553 1", "tpc10_human", "np_003265", "trappc10", "ehoc", "ehoc 1", "ehoc1", "gt334", "nedmiss", "tmem1", "trs130", "trs30" ] }, { "record_id": "MONDO:0859285", "record_type": "disease", "section": "proteins", "phraselist": [ "trafficking", "protein", "particle", "complex", "subunit", "10", "trafficking protein", "protein particle", "particle complex", "complex subunit", "subunit 10", "trafficking protein particle", "protein particle complex", "particle complex subunit", "complex subunit 10", "trafficking protein particle complex", "protein particle complex subunit", "particle complex subunit 10", "trafficking protein particle complex subunit", "protein particle complex subunit 10", "ehoc", "ehoc 1", "epilepsy", "holoprosencephaly", "candidate", "epilepsy holoprosencephaly", "holoprosencephaly candidate", "candidate 1", "1 protein", "epilepsy holoprosencephaly candidate", "holoprosencephaly candidate 1", "candidate 1 protein", "epilepsy holoprosencephaly candidate 1", "holoprosencephaly candidate 1 protein", "epilepsy holoprosencephaly candidate 1 protein", "gt334", "protein gt334", "trapp", "130", "kda", "trapp 130", "130 kda", "kda subunit", "trapp 130 kda", "130 kda subunit", "trapp 130 kda subunit", "tmem1", "trapp subunit", "subunit tmem1", "trapp subunit tmem1", "complex subunit tmem1", "particle complex subunit tmem1", "protein particle complex subunit tmem1", "transport", "transport protein", "particle subunit", "transport protein particle", "protein particle subunit", "particle subunit tmem1", "transport protein particle subunit", "protein particle subunit tmem1", "transport protein particle subunit tmem1", "complex 10", "particle complex 10", "protein particle complex 10", "trafficking protein particle complex 10", "isoform", "10 isoform", "isoform a", "subunit 10 isoform", "10 isoform a", "complex subunit 10 isoform", "subunit 10 isoform a", "particle complex subunit 10 isoform", "complex subunit 10 isoform a", "subunit 130", "complex subunit 130", "particle complex subunit 130", "protein particle complex subunit 130", "transmembrane", "transmembrane protein", "protein 1", "transmembrane protein 1" ] }, { "record_id": "MONDO:0859287", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859287", "0859287", "mim:620038", "620038" ] }, { "record_id": "MONDO:0859287", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "hypotonia", "and", "absent", "language", "neurodevelopmental disorder", "disorder with", "with microcephaly", "and absent", "absent language", "neurodevelopmental disorder with", "disorder with microcephaly", "microcephaly hypotonia", "hypotonia and", "and absent language", "neurodevelopmental disorder with microcephaly", "with microcephaly hypotonia", "hypotonia and absent", "disorder with microcephaly hypotonia", "microcephaly hypotonia and", "hypotonia and absent language" ] }, { "record_id": "MONDO:0859287", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859287", "record_type": "disease", "section": "proteins", "phraselist": [ "p20618", "p20618 1", "psb1_human", "np_002784", "glycoprotein", "psmb1", "hc5", "nedmhal", "pmsb1", "psc5" ] }, { "record_id": "MONDO:0859287", "record_type": "disease", "section": "proteins", "phraselist": [ "proteasome", "subunit", "beta", "type", "proteasome subunit", "subunit beta", "beta type", "type 1", "proteasome subunit beta", "subunit beta type", "beta type 1", "proteasome subunit beta type", "subunit beta type 1", "proteasome subunit beta type 1", "macropain", "c5", "macropain subunit", "subunit c5", "macropain subunit c5", "multicatalytic", "endopeptidase", "complex", "multicatalytic endopeptidase", "endopeptidase complex", "complex subunit", "multicatalytic endopeptidase complex", "endopeptidase complex subunit", "complex subunit c5", "multicatalytic endopeptidase complex subunit", "endopeptidase complex subunit c5", "multicatalytic endopeptidase complex subunit c5", "component", "proteasome component", "component c5", "proteasome component c5", "gamma", "chain", "proteasome gamma", "gamma chain", "proteasome gamma chain", "beta 6", "subunit beta 6", "proteasome subunit beta 6", "prosome", "proteasome prosome", "prosome macropain", "proteasome prosome macropain", "prosome macropain subunit", "macropain subunit beta", "proteasome beta", "beta 1", "1 subunit", "proteasome beta 1", "beta 1 subunit", "proteasome beta 1 subunit", "hc5", "subunit hc5", "proteasome subunit hc5", "subunit beta 1", "proteasome subunit beta 1", "beta6", "subunit beta6", "proteasome subunit beta6", "testicular", "secretory", "protein", "li", "45", "testicular secretory", "secretory protein", "protein li", "li 45", "testicular secretory protein", "secretory protein li", "protein li 45", "testicular secretory protein li", "secretory protein li 45", "testicular secretory protein li 45" ] }, { "record_id": "MONDO:0859288", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859288", "0859288", "mim:620044", "620044" ] }, { "record_id": "MONDO:0859288", "record_type": "disease", "section": "disease_name", "phraselist": [ "bone", "marrow", "failure", "and", "diabetes", "mellitus", "syndrome", "bone marrow", "marrow failure", "failure and", "and diabetes", "diabetes mellitus", "mellitus syndrome", "bone marrow failure", "marrow failure and", "failure and diabetes", "and diabetes mellitus", "diabetes mellitus syndrome", "bone marrow failure and", "marrow failure and diabetes", "failure and diabetes mellitus", "and diabetes mellitus syndrome", "bone marrow failure and diabetes", "marrow failure and diabetes mellitus", "failure and diabetes mellitus syndrome" ] }, { "record_id": "MONDO:0859288", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859288", "record_type": "disease", "section": "proteins", "phraselist": [ "p33316", "p33316 3", "dut_human", "np_001020419", "glycoprotein", "dut", "bmfdms", "dutpase" ] }, { "record_id": "MONDO:0859288", "record_type": "disease", "section": "proteins", "phraselist": [ "deoxyuridine", "5'", "triphosphate", "nucleotidohydrolase", "mitochondrial", "deoxyuridine 5'", "5' triphosphate", "triphosphate nucleotidohydrolase", "deoxyuridine 5' triphosphate", "5' triphosphate nucleotidohydrolase", "nucleotidohydrolase mitochondrial", "deoxyuridine 5' triphosphate nucleotidohydrolase", "triphosphate nucleotidohydrolase mitochondrial", "5' triphosphate nucleotidohydrolase mitochondrial", "3.6.1.23", "dutp", "diphosphatase", "dutp diphosphatase", "dutp nucleotidohydrolase", "pyrophosphatase", "dutp pyrophosphatase", "dutpase", "isoform", "precursor", "mitochondrial isoform", "isoform 1", "1 precursor", "mitochondrial isoform 1", "isoform 1 precursor", "nucleotidohydrolase mitochondrial isoform", "mitochondrial isoform 1 precursor", "triphosphate nucleotidohydrolase mitochondrial isoform", "nucleotidohydrolase mitochondrial isoform 1" ] }, { "record_id": "MONDO:0859289", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859289", "0859289", "mim:620045", "620045" ] }, { "record_id": "MONDO:0859289", "record_type": "disease", "section": "disease_name", "phraselist": [ "intestinal", "dysmotility", "syndrome", "intestinal dysmotility", "dysmotility syndrome", "intestinal dysmotility syndrome" ] }, { "record_id": "MONDO:0859289", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859289", "record_type": "disease", "section": "proteins", "phraselist": [ "q5xxa6", "q5xxa6 1", "ano1_human", "np_060513", "glycoprotein", "ano1", "dog1", "indms", "mymy7", "oraov2", "taos2", "tmem16a" ] }, { "record_id": "MONDO:0859289", "record_type": "disease", "section": "proteins", "phraselist": [ "anoctamin", "anoctamin 1", "ca2+", "activated", "cl", "channel", "ca2+ activated", "activated cl", "ca2+ activated cl", "cl channel", "activated cl channel", "ca2+ activated cl channel", "discovered", "on", "gastrointestinal", "stromal", "tumors", "protein", "discovered on", "on gastrointestinal", "gastrointestinal stromal", "stromal tumors", "tumors protein", "protein 1", "discovered on gastrointestinal", "on gastrointestinal stromal", "gastrointestinal stromal tumors", "stromal tumors protein", "tumors protein 1", "discovered on gastrointestinal stromal", "on gastrointestinal stromal tumors", "gastrointestinal stromal tumors protein", "stromal tumors protein 1", "discovered on gastrointestinal stromal tumors", "on gastrointestinal stromal tumors protein", "gastrointestinal stromal tumors protein 1", "oral", "cancer", "overexpressed", "oral cancer", "cancer overexpressed", "overexpressed protein", "protein 2", "oral cancer overexpressed", "cancer overexpressed protein", "overexpressed protein 2", "oral cancer overexpressed protein", "cancer overexpressed protein 2", "oral cancer overexpressed protein 2", "transmembrane", "16a", "transmembrane protein", "protein 16a", "transmembrane protein 16a", "tumor", "amplified", "and", "sequence", "tumor amplified", "amplified and", "and overexpressed", "overexpressed sequence", "sequence 2", "tumor amplified and", "amplified and overexpressed", "and overexpressed sequence", "overexpressed sequence 2", "tumor amplified and overexpressed", "amplified and overexpressed sequence", "and overexpressed sequence 2", "tumor amplified and overexpressed sequence", "amplified and overexpressed sequence 2", "calcium", "chloride", "calcium activated", "activated chloride", "chloride channel", "1 calcium", "calcium activated chloride", "activated chloride channel", "anoctamin 1 calcium", "1 calcium activated", "calcium activated chloride channel", "anoctamin 1 calcium activated", "1 calcium activated chloride", "isoform", "1 isoform", "isoform a", "anoctamin 1 isoform", "1 isoform a", "anoctamin 1 isoform a", "overexpressed 2", "cancer overexpressed 2", "oral cancer overexpressed 2", "eight", "membrane", "spanning", "domains", "eight membrane", "membrane spanning", "spanning domains", "16a eight", "eight membrane spanning", "membrane spanning domains", "protein 16a eight", "16a eight membrane", "eight membrane spanning domains", "transmembrane protein 16a eight", "protein 16a eight membrane", "16a eight membrane spanning" ] }, { "record_id": "MONDO:0859290", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859290", "0859290", "mim:620058", "620058" ] }, { "record_id": "MONDO:0859290", "record_type": "disease", "section": "disease_name", "phraselist": [ "familial", "apolipoprotein", "gene", "cluster", "deletion", "syndrome", "familial apolipoprotein", "apolipoprotein gene", "gene cluster", "cluster deletion", "deletion syndrome", "familial apolipoprotein gene", "apolipoprotein gene cluster", "gene cluster deletion", "cluster deletion syndrome", "familial apolipoprotein gene cluster", "apolipoprotein gene cluster deletion", "gene cluster deletion syndrome", "familial apolipoprotein gene cluster deletion", "apolipoprotein gene cluster deletion syndrome" ] }, { "record_id": "MONDO:0859290", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859290", "record_type": "disease", "section": "proteins", "phraselist": [ "p02647", "p02647 1", "apoa1_human", "np_000030", "glycoprotein", "apoa1", "amyld3", "hpalp2", "apo", "apo a" ] }, { "record_id": "MONDO:0859290", "record_type": "disease", "section": "proteins", "phraselist": [ "apolipoprotein", "apolipoprotein a", "a i", "apolipoprotein a i", "apo", "ai", "apo ai", "apoa", "apoa i", "242", "i 1", "1 242", "a i 1", "i 1 242", "apolipoprotein a i 1", "a i 1 242", "apolipoprotein a i 1 242", "a1", "apolipoprotein a1", "isoform", "preproprotein", "i isoform", "isoform 1", "1 preproprotein", "a i isoform", "i isoform 1", "isoform 1 preproprotein", "apolipoprotein a i isoform", "a i isoform 1", "i isoform 1 preproprotein", "apolipoprotein a i isoform 1", "a i isoform 1 preproprotein", "epididymis", "secretory", "sperm", "binding", "protein", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein" ] }, { "record_id": "MONDO:0859292", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859292", "0859292", "mim:620065", "620065" ] }, { "record_id": "MONDO:0859292", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "delay", "behavioral", "abnormalities", "and", "neuropsychiatric", "disorders", "developmental delay", "behavioral abnormalities", "and neuropsychiatric", "neuropsychiatric disorders", "delay behavioral", "abnormalities and", "and neuropsychiatric disorders", "developmental delay behavioral", "delay behavioral abnormalities", "behavioral abnormalities and", "abnormalities and neuropsychiatric", "developmental delay behavioral abnormalities", "behavioral abnormalities and neuropsychiatric", "abnormalities and neuropsychiatric disorders" ] }, { "record_id": "MONDO:0859292", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859292", "record_type": "disease", "section": "proteins", "phraselist": [ "o94910", "o94910 1", "agrl1_human", "np_001008701", "glycoprotein", "adgrl1", "cirl1", "cl1", "dedbanp", "kiaa0821", "lec2", "lphn1" ] }, { "record_id": "MONDO:0859292", "record_type": "disease", "section": "proteins", "phraselist": [ "adhesion", "protein", "coupled", "receptor", "l1", "adhesion g", "g protein", "protein coupled", "coupled receptor", "receptor l1", "adhesion g protein", "g protein coupled", "protein coupled receptor", "coupled receptor l1", "adhesion g protein coupled", "g protein coupled receptor", "protein coupled receptor l1", "adhesion g protein coupled receptor", "g protein coupled receptor l1", "cirl", "cirl 1", "calcium", "independent", "alpha", "latrotoxin", "calcium independent", "independent alpha", "alpha latrotoxin", "latrotoxin receptor", "receptor 1", "calcium independent alpha", "independent alpha latrotoxin", "alpha latrotoxin receptor", "latrotoxin receptor 1", "calcium independent alpha latrotoxin", "independent alpha latrotoxin receptor", "alpha latrotoxin receptor 1", "calcium independent alpha latrotoxin receptor", "independent alpha latrotoxin receptor 1", "latrophilin", "latrophilin 1", "lectomedin", "lectomedin 2", "isoform", "precursor", "l1 isoform", "isoform 1", "1 precursor", "receptor l1 isoform", "l1 isoform 1", "isoform 1 precursor", "coupled receptor l1 isoform", "receptor l1 isoform 1", "l1 isoform 1 precursor", "protein coupled receptor l1 isoform", "coupled receptor l1 isoform 1", "receptor l1 isoform 1 precursor" ] }, { "record_id": "MONDO:0859293", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859293", "0859293", "mim:620066", "620066" ] }, { "record_id": "MONDO:0859293", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "cerebral", "atrophy", "and", "visual", "impairment", "neurodevelopmental disorder", "disorder with", "with microcephaly", "cerebral atrophy", "and visual", "visual impairment", "neurodevelopmental disorder with", "disorder with microcephaly", "microcephaly cerebral", "atrophy and", "and visual impairment", "neurodevelopmental disorder with microcephaly", "with microcephaly cerebral", "microcephaly cerebral atrophy", "cerebral atrophy and", "atrophy and visual", "disorder with microcephaly cerebral", "with microcephaly cerebral atrophy", "cerebral atrophy and visual", "atrophy and visual impairment" ] }, { "record_id": "MONDO:0859293", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859293", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bu89", "q9bu89 1", "dohh_human", "np_001138637", "glycoprotein", "dohh", "hlrc1", "nedmvic", "hdohh" ] }, { "record_id": "MONDO:0859293", "record_type": "disease", "section": "proteins", "phraselist": [ "deoxyhypusine", "hydroxylase", "deoxyhypusine hydroxylase", "1.14.99.29", "dioxygenase", "deoxyhypusine dioxygenase", "monooxygenase", "deoxyhypusine monooxygenase", "heat", "like", "pbs", "lyase", "repeat", "containing", "heat like", "pbs lyase", "repeat containing", "containing 1", "like pbs", "lyase repeat", "repeat containing 1", "heat like pbs", "like pbs lyase", "pbs lyase repeat", "lyase repeat containing", "heat like pbs lyase", "pbs lyase repeat containing", "lyase repeat containing 1", "protein", "like repeat", "containing protein", "protein 1", "heat like repeat", "like repeat containing", "repeat containing protein", "containing protein 1", "heat like repeat containing", "like repeat containing protein", "repeat containing protein 1", "heat like repeat containing protein", "like repeat containing protein 1", "hydroxylase/monooxygenase", "deoxyhypusine hydroxylase/monooxygenase", "hdohh" ] }, { "record_id": "MONDO:0859297", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859297", "0859297", "mim:620073", "620073" ] }, { "record_id": "MONDO:0859297", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "dysmorphic", "facies", "and", "skeletal", "brain", "abnormalities", "neurodevelopmental disorder", "disorder with", "with dysmorphic", "dysmorphic facies", "facies and", "and skeletal", "skeletal and", "and brain", "brain abnormalities", "neurodevelopmental disorder with", "disorder with dysmorphic", "with dysmorphic facies", "dysmorphic facies and", "facies and skeletal", "and skeletal and", "skeletal and brain", "and brain abnormalities", "neurodevelopmental disorder with dysmorphic", "disorder with dysmorphic facies", "with dysmorphic facies and", "dysmorphic facies and skeletal", "facies and skeletal and", "and skeletal and brain", "skeletal and brain abnormalities", "neurodevelopmental disorder with dysmorphic facies", "disorder with dysmorphic facies and", "with dysmorphic facies and skeletal", "dysmorphic facies and skeletal and", "facies and skeletal and brain", "and skeletal and brain abnormalities" ] }, { "record_id": "MONDO:0859297", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859297", "record_type": "disease", "section": "proteins", "phraselist": [ "o43390", "o43390 1", "hnrpr_human", "np_001095868", "glycoprotein", "hnrnpr", "hnrpr", "neddfsb", "hnrnp", "hnrnp r" ] }, { "record_id": "MONDO:0859297", "record_type": "disease", "section": "proteins", "phraselist": [ "heterogeneous", "nuclear", "ribonucleoprotein", "heterogeneous nuclear", "nuclear ribonucleoprotein", "ribonucleoprotein r", "heterogeneous nuclear ribonucleoprotein", "nuclear ribonucleoprotein r", "heterogeneous nuclear ribonucleoprotein r", "isoform", "r isoform", "isoform 1", "ribonucleoprotein r isoform", "r isoform 1", "nuclear ribonucleoprotein r isoform", "ribonucleoprotein r isoform 1", "heterogeneous nuclear ribonucleoprotein r isoform", "nuclear ribonucleoprotein r isoform 1", "hnrnp", "hnrnp r" ] }, { "record_id": "MONDO:0859298", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859298", "0859298", "mim:620075", "620075" ] }, { "record_id": "MONDO:0859298", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "facial", "dysmorphism", "absent", "language", "and", "pseudo", "pelger", "huet", "anomaly", "neurodevelopmental disorder", "disorder with", "with facial", "facial dysmorphism", "absent language", "and pseudo", "pseudo pelger", "pelger huet", "huet anomaly", "neurodevelopmental disorder with", "disorder with facial", "with facial dysmorphism", "dysmorphism absent", "language and", "and pseudo pelger", "pseudo pelger huet", "pelger huet anomaly", "neurodevelopmental disorder with facial", "disorder with facial dysmorphism", "facial dysmorphism absent", "dysmorphism absent language", "absent language and", "language and pseudo", "and pseudo pelger huet", "pseudo pelger huet anomaly", "neurodevelopmental disorder with facial dysmorphism", "with facial dysmorphism absent", "facial dysmorphism absent language", "absent language and pseudo", "language and pseudo pelger", "and pseudo pelger huet anomaly" ] }, { "record_id": "MONDO:0859298", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859298", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bvk8", "q9bvk8 1", "tm147_human", "np_001229526", "tmem147", "nedflph", "nifie14" ] }, { "record_id": "MONDO:0859298", "record_type": "disease", "section": "proteins", "phraselist": [ "bos", "complex", "subunit", "tmem147", "bos complex", "complex subunit", "subunit tmem147", "bos complex subunit", "complex subunit tmem147", "bos complex subunit tmem147", "isoform", "tmem147 isoform", "isoform 2", "subunit tmem147 isoform", "tmem147 isoform 2", "complex subunit tmem147 isoform", "subunit tmem147 isoform 2", "bos complex subunit tmem147 isoform", "complex subunit tmem147 isoform 2", "protein", "nifie", "14", "protein nifie", "nifie 14", "protein nifie 14", "transmembrane", "147", "transmembrane protein", "protein 147", "transmembrane protein 147", "seven", "domain", "seven transmembrane", "transmembrane domain", "domain protein", "seven transmembrane domain", "transmembrane domain protein", "seven transmembrane domain protein" ] }, { "record_id": "MONDO:0859301", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859301", "0859301", "mim:620083", "620083" ] }, { "record_id": "MONDO:0859301", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "craniofacial", "dysmorphism", "and", "skeletal", "defects", "neurodevelopmental disorder", "disorder with", "with craniofacial", "craniofacial dysmorphism", "dysmorphism and", "and skeletal", "skeletal defects", "neurodevelopmental disorder with", "disorder with craniofacial", "with craniofacial dysmorphism", "craniofacial dysmorphism and", "dysmorphism and skeletal", "and skeletal defects", "neurodevelopmental disorder with craniofacial", "disorder with craniofacial dysmorphism", "with craniofacial dysmorphism and", "craniofacial dysmorphism and skeletal", "dysmorphism and skeletal defects", "neurodevelopmental disorder with craniofacial dysmorphism", "disorder with craniofacial dysmorphism and", "with craniofacial dysmorphism and skeletal", "craniofacial dysmorphism and skeletal defects" ] }, { "record_id": "MONDO:0859301", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859301", "record_type": "disease", "section": "proteins", "phraselist": [ "p31943", "p31943 1", "hnrh1_human", "np_001244222", "glycoprotein", "hnrnph1", "hnrph1", "hnrph", "nedcds", "hnrnph" ] }, { "record_id": "MONDO:0859301", "record_type": "disease", "section": "proteins", "phraselist": [ "heterogeneous", "nuclear", "ribonucleoprotein", "heterogeneous nuclear", "nuclear ribonucleoprotein", "ribonucleoprotein h", "heterogeneous nuclear ribonucleoprotein", "nuclear ribonucleoprotein h", "heterogeneous nuclear ribonucleoprotein h", "epididymis", "secretory", "sperm", "binding", "protein", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "isoform", "h isoform", "isoform a", "ribonucleoprotein h isoform", "h isoform a", "nuclear ribonucleoprotein h isoform", "ribonucleoprotein h isoform a", "heterogeneous nuclear ribonucleoprotein h isoform", "nuclear ribonucleoprotein h isoform a", "h1", "ribonucleoprotein h1", "nuclear ribonucleoprotein h1", "h1 h", "heterogeneous nuclear ribonucleoprotein h1", "ribonucleoprotein h1 h", "nuclear ribonucleoprotein h1 h", "hnrnp", "hnrnp h" ] }, { "record_id": "MONDO:0859302", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859302", "0859302", "mim:620085", "620085" ] }, { "record_id": "MONDO:0859302", "record_type": "disease", "section": "disease_name", "phraselist": [ "hypermetabolism", "due", "to", "uncoupled", "mitochondrial", "oxidative", "phosphorylation", "hypermetabolism due", "due to", "to uncoupled", "uncoupled mitochondrial", "mitochondrial oxidative", "oxidative phosphorylation", "phosphorylation 2", "hypermetabolism due to", "due to uncoupled", "to uncoupled mitochondrial", "uncoupled mitochondrial oxidative", "mitochondrial oxidative phosphorylation", "oxidative phosphorylation 2", "hypermetabolism due to uncoupled", "due to uncoupled mitochondrial", "to uncoupled mitochondrial oxidative", "uncoupled mitochondrial oxidative phosphorylation", "mitochondrial oxidative phosphorylation 2", "hypermetabolism due to uncoupled mitochondrial", "due to uncoupled mitochondrial oxidative", "to uncoupled mitochondrial oxidative phosphorylation", "uncoupled mitochondrial oxidative phosphorylation 2" ] }, { "record_id": "MONDO:0859302", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859302", "record_type": "disease", "section": "proteins", "phraselist": [ "p06576", "p06576 1", "atpb_human", "np_001677", "glycoprotein", "atp5f1b", "atp5b", "atpmb", "atpsb", "dyt38", "hel", "271", "hel s", "s 271", "hel s 271", "humop2" ] }, { "record_id": "MONDO:0859302", "record_type": "disease", "section": "proteins", "phraselist": [ "atp", "synthase", "complex", "subunit", "beta", "mitochondrial", "atp synthase", "synthase f", "f 1", "complex subunit", "subunit beta", "atp synthase f", "synthase f 1", "1 complex", "complex subunit beta", "beta mitochondrial", "atp synthase f 1", "f 1 complex", "1 complex subunit", "subunit beta mitochondrial", "synthase f 1 complex", "f 1 complex subunit", "1 complex subunit beta", "complex subunit beta mitochondrial", "7.1.2.2", "precursor", "mitochondrial precursor", "beta mitochondrial precursor", "subunit beta mitochondrial precursor", "f1", "synthase f1", "f1 subunit", "atp synthase f1", "synthase f1 subunit", "f1 subunit beta", "atp synthase f1 subunit", "synthase f1 subunit beta", "atp synthase f1 subunit beta", "synthase subunit", "atp synthase subunit", "synthase subunit beta", "atp synthase subunit beta", "synthase subunit beta mitochondrial", "h+", "transporting", "polypeptide", "h+ transporting", "mitochondrial f1", "f1 complex", "beta polypeptide", "synthase h+", "transporting mitochondrial", "mitochondrial f1 complex", "complex beta", "atp synthase h+", "synthase h+ transporting", "h+ transporting mitochondrial", "transporting mitochondrial f1", "f1 complex beta", "complex beta polypeptide", "atp synthase h+ transporting", "h+ transporting mitochondrial f1", "transporting mitochondrial f1 complex", "mitochondrial f1 complex beta", "f1 complex beta polypeptide", "epididymis", "secretory", "protein", "li", "271", "epididymis secretory", "secretory protein", "protein li", "li 271", "epididymis secretory protein", "secretory protein li", "protein li 271", "epididymis secretory protein li", "secretory protein li 271", "epididymis secretory protein li 271", "mitochondrial atp", "synthase beta", "beta subunit", "mitochondrial atp synthase", "atp synthase beta", "synthase beta subunit", "mitochondrial atp synthase beta", "atp synthase beta subunit", "mitochondrial atp synthase beta subunit", "synthetase", "atp synthetase", "mitochondrial atp synthetase", "synthetase beta", "atp synthetase beta", "synthetase beta subunit", "mitochondrial atp synthetase beta", "atp synthetase beta subunit" ] }, { "record_id": "MONDO:0859304", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859304", "0859304", "mim:620089", "620089" ] }, { "record_id": "MONDO:0859304", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodegeneration", "childhood", "onset", "with", "multisystem", "involvement", "due", "to", "mitochondrial", "dysfunction", "childhood onset", "with multisystem", "multisystem involvement", "involvement due", "due to", "to mitochondrial", "mitochondrial dysfunction", "neurodegeneration childhood", "onset with", "with multisystem involvement", "multisystem involvement due", "involvement due to", "due to mitochondrial", "to mitochondrial dysfunction", "neurodegeneration childhood onset", "childhood onset with", "onset with multisystem", "with multisystem involvement due", "multisystem involvement due to", "involvement due to mitochondrial", "due to mitochondrial dysfunction", "childhood onset with multisystem", "onset with multisystem involvement", "with multisystem involvement due to", "multisystem involvement due to mitochondrial", "involvement due to mitochondrial dysfunction" ] }, { "record_id": "MONDO:0859304", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859304", "record_type": "disease", "section": "proteins", "phraselist": [ "o95202", "o95202 1", "letm1_human", "np_036450", "glycoprotein", "letm1", "condmim", "khe", "mdm38", "slc55a1" ] }, { "record_id": "MONDO:0859304", "record_type": "disease", "section": "proteins", "phraselist": [ "mitochondrial", "proton/calcium", "exchanger", "protein", "mitochondrial proton/calcium", "proton/calcium exchanger", "exchanger protein", "mitochondrial proton/calcium exchanger", "proton/calcium exchanger protein", "mitochondrial proton/calcium exchanger protein", "electroneutral", "/h", "electroneutral mitochondrial", "mitochondrial k", "k +", "+ /h", "/h +", "+ exchanger", "electroneutral mitochondrial k", "mitochondrial k +", "k + /h", "+ /h +", "/h + exchanger", "electroneutral mitochondrial k +", "mitochondrial k + /h", "k + /h +", "+ /h + exchanger", "electroneutral mitochondrial k + /h", "mitochondrial k + /h +", "k + /h + exchanger", "khe", "letm1", "and", "ef", "hand", "domain", "containing", "letm1 and", "and ef", "ef hand", "hand domain", "domain containing", "containing protein", "protein 1", "letm1 and ef", "and ef hand", "ef hand domain", "hand domain containing", "domain containing protein", "containing protein 1", "1 mitochondrial", "letm1 and ef hand", "and ef hand domain", "ef hand domain containing", "hand domain containing protein", "domain containing protein 1", "protein 1 mitochondrial", "letm1 and ef hand domain", "and ef hand domain containing", "ef hand domain containing protein", "hand domain containing protein 1", "containing protein 1 mitochondrial", "leucine", "zipper", "transmembrane", "leucine zipper", "zipper ef", "hand containing", "containing transmembrane", "transmembrane protein", "leucine zipper ef", "zipper ef hand", "ef hand containing", "hand containing transmembrane", "containing transmembrane protein", "transmembrane protein 1", "leucine zipper ef hand", "zipper ef hand containing", "ef hand containing transmembrane", "hand containing transmembrane protein", "containing transmembrane protein 1", "leucine zipper ef hand containing", "zipper ef hand containing transmembrane", "ef hand containing transmembrane protein", "hand containing transmembrane protein 1", "mdm38", "homolog", "mdm38 homolog", "precursor", "protein precursor", "exchanger protein precursor", "proton/calcium exchanger protein precursor", "mitochondrial proton/calcium exchanger protein precursor" ] }, { "record_id": "MONDO:0859306", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859306", "0859306", "mim:620098", "620098" ] }, { "record_id": "MONDO:0859306", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "delay", "with", "variable", "intellectual", "disability", "and", "dysmorphic", "facies", "developmental delay", "delay with", "with variable", "variable intellectual", "intellectual disability", "disability and", "and dysmorphic", "dysmorphic facies", "developmental delay with", "delay with variable", "with variable intellectual", "variable intellectual disability", "intellectual disability and", "disability and dysmorphic", "and dysmorphic facies", "developmental delay with variable", "delay with variable intellectual", "with variable intellectual disability", "variable intellectual disability and", "intellectual disability and dysmorphic", "disability and dysmorphic facies", "developmental delay with variable intellectual", "delay with variable intellectual disability", "with variable intellectual disability and", "variable intellectual disability and dysmorphic", "intellectual disability and dysmorphic facies" ] }, { "record_id": "MONDO:0859306", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859306", "record_type": "disease", "section": "proteins", "phraselist": [ "q92833", "q92833 1", "jard2_human", "np_001253969", "jarid2", "diddf", "jmj" ] }, { "record_id": "MONDO:0859306", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "jumonji", "protein jumonji", "jumonji/arid", "domain", "containing", "jumonji/arid domain", "domain containing", "containing protein", "protein 2", "jumonji/arid domain containing", "domain containing protein", "containing protein 2", "jumonji/arid domain containing protein", "domain containing protein 2", "jumonji/arid domain containing protein 2", "homolog", "jumonji homolog", "at", "rich", "interactive", "at rich", "rich interactive", "interactive domain", "domain 2", "jumonji at", "at rich interactive", "rich interactive domain", "interactive domain 2", "jumonji at rich", "at rich interactive domain", "rich interactive domain 2", "jumonji at rich interactive", "at rich interactive domain 2", "like", "jumonji like", "like protein", "jumonji like protein", "isoform", "jumonji isoform", "isoform 2", "protein jumonji isoform", "jumonji isoform 2", "protein jumonji isoform 2" ] }, { "record_id": "MONDO:0859307", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859307", "0859307", "mim:620099", "620099" ] }, { "record_id": "MONDO:0859307", "record_type": "disease", "section": "disease_name", "phraselist": [ "cleidocranial", "dysplasia", "cleidocranial dysplasia", "dysplasia 2", "cleidocranial dysplasia 2" ] }, { "record_id": "MONDO:0859307", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859307", "record_type": "disease", "section": "proteins", "phraselist": [ "q13951", "q13951 1", "pebb_human", "np_001746", "glycoprotein", "cbfb", "clcd2", "pebp2b" ] }, { "record_id": "MONDO:0859307", "record_type": "disease", "section": "proteins", "phraselist": [ "core", "binding", "factor", "subunit", "beta", "core binding", "binding factor", "factor subunit", "subunit beta", "core binding factor", "binding factor subunit", "factor subunit beta", "core binding factor subunit", "binding factor subunit beta", "core binding factor subunit beta", "cbf", "cbf beta", "pea2", "pea2 beta", "pebp2", "pebp2 beta", "polyomavirus", "enhancer", "protein", "polyomavirus enhancer", "enhancer binding", "binding protein", "protein 2", "2 beta", "beta subunit", "polyomavirus enhancer binding", "enhancer binding protein", "binding protein 2", "protein 2 beta", "2 beta subunit", "polyomavirus enhancer binding protein", "enhancer binding protein 2", "binding protein 2 beta", "protein 2 beta subunit", "polyomavirus enhancer binding protein 2", "enhancer binding protein 2 beta", "binding protein 2 beta subunit", "sl3", "sl3 3", "3 enhancer", "enhancer factor", "factor 1", "1 beta", "sl3 3 enhancer", "3 enhancer factor", "enhancer factor 1", "factor 1 beta", "1 beta subunit", "sl3 3 enhancer factor", "3 enhancer factor 1", "enhancer factor 1 beta", "factor 1 beta subunit", "sl3 3 enhancer factor 1", "3 enhancer factor 1 beta", "enhancer factor 1 beta subunit", "1 subunit", "factor 1 subunit", "1 subunit beta", "enhancer factor 1 subunit", "factor 1 subunit beta", "3 enhancer factor 1 subunit", "enhancer factor 1 subunit beta", "sl3/akv", "sl3/akv core", "factor beta", "sl3/akv core binding", "binding factor beta", "factor beta subunit", "sl3/akv core binding factor", "core binding factor beta", "binding factor beta subunit", "sl3/akv core binding factor beta", "core binding factor beta subunit", "isoform", "beta isoform", "isoform 2", "subunit beta isoform", "beta isoform 2", "factor subunit beta isoform", "subunit beta isoform 2", "binding factor subunit beta isoform", "factor subunit beta isoform 2" ] }, { "record_id": "MONDO:0859311", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859311", "0859311", "mim:620111", "620111" ] }, { "record_id": "MONDO:0859311", "record_type": "disease", "section": "disease_name", "phraselist": [ "charcot", "marie", "tooth", "disease", "demyelinating", "type", "1j", "charcot marie", "marie tooth", "tooth disease", "type 1j", "charcot marie tooth", "marie tooth disease", "disease demyelinating", "demyelinating type", "charcot marie tooth disease", "tooth disease demyelinating", "demyelinating type 1j", "marie tooth disease demyelinating", "disease demyelinating type" ] }, { "record_id": "MONDO:0859311", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859311", "record_type": "disease", "section": "proteins", "phraselist": [ "q14573", "q14573 1", "itpr3_human", "np_002215", "glycoprotein", "itpr3", "cmt1j", "imd132", "imd133", "ip3r", "ip3r 3", "ip3r3" ] }, { "record_id": "MONDO:0859311", "record_type": "disease", "section": "proteins", "phraselist": [ "inositol", "trisphosphate", "gated", "calcium", "channel", "itpr3", "inositol 1", "1 4", "4 5", "5 trisphosphate", "trisphosphate gated", "gated calcium", "calcium channel", "channel itpr3", "inositol 1 4", "1 4 5", "4 5 trisphosphate", "5 trisphosphate gated", "trisphosphate gated calcium", "gated calcium channel", "calcium channel itpr3", "inositol 1 4 5", "1 4 5 trisphosphate", "4 5 trisphosphate gated", "5 trisphosphate gated calcium", "trisphosphate gated calcium channel", "gated calcium channel itpr3", "inositol 1 4 5 trisphosphate", "1 4 5 trisphosphate gated", "4 5 trisphosphate gated calcium", "5 trisphosphate gated calcium channel", "trisphosphate gated calcium channel itpr3", "ip3", "receptor", "isoform", "ip3 receptor", "receptor isoform", "isoform 3", "ip3 receptor isoform", "receptor isoform 3", "ip3 receptor isoform 3", "ip3r", "ip3r 3", "insp3r3", "type", "insp3", "type 3", "3 insp3", "insp3 receptor", "type 3 insp3", "3 insp3 receptor", "type 3 insp3 receptor", "3 inositol", "trisphosphate receptor", "type 3 inositol", "3 inositol 1", "5 trisphosphate receptor", "type 3 inositol 1", "3 inositol 1 4", "4 5 trisphosphate receptor", "type 3 inositol 1 4", "3 inositol 1 4 5", "1 4 5 trisphosphate receptor", "triphosphate", "5 triphosphate", "triphosphate receptor", "4 5 triphosphate", "5 triphosphate receptor", "receptor type", "1 4 5 triphosphate", "4 5 triphosphate receptor", "triphosphate receptor type", "receptor type 3", "inositol 1 4 5 triphosphate", "1 4 5 triphosphate receptor", "5 triphosphate receptor type", "triphosphate receptor type 3" ] }, { "record_id": "MONDO:0859312", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859312", "0859312", "mim:620113", "620113" ] }, { "record_id": "MONDO:0859312", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "growth", "retardation", "dysmorphic", "facies", "and", "corpus", "callosum", "abnormalities", "neurodevelopmental disorder", "disorder with", "with growth", "growth retardation", "dysmorphic facies", "and corpus", "corpus callosum", "callosum abnormalities", "neurodevelopmental disorder with", "disorder with growth", "with growth retardation", "retardation dysmorphic", "facies and", "and corpus callosum", "corpus callosum abnormalities", "neurodevelopmental disorder with growth", "disorder with growth retardation", "growth retardation dysmorphic", "retardation dysmorphic facies", "dysmorphic facies and", "facies and corpus", "and corpus callosum abnormalities", "neurodevelopmental disorder with growth retardation", "with growth retardation dysmorphic", "growth retardation dysmorphic facies", "dysmorphic facies and corpus", "facies and corpus callosum" ] }, { "record_id": "MONDO:0859312", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859312", "record_type": "disease", "section": "proteins", "phraselist": [ "q70z53", "q70z53 1", "f10c1_human", "np_001334641", "fra10ac1", "c10orf4", "f26c11.1", "like", "f26c11.1 like", "fra10a", "nedgfc", "pro2972" ] }, { "record_id": "MONDO:0859312", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "fra10ac1", "protein fra10ac1", "fragile", "site", "10q23.3", "fragile site", "site 10q23.3", "fragile site 10q23.3", "folic", "acid", "type", "rare", "fra", "10", "q23.3", "or", "q24.2", "candidate", "folic acid", "acid type", "fra 10", "or fra", "candidate 1", "site folic", "folic acid type", "type rare", "rare fra", "10 q23.3", "q23.3 or", "or fra 10", "10 q24.2", "q24.2 candidate", "fragile site folic", "site folic acid", "acid type rare", "rare fra 10", "fra 10 q23.3", "q23.3 or fra", "fra 10 q24.2", "q24.2 candidate 1", "fragile site folic acid", "site folic acid type", "folic acid type rare", "type rare fra", "10 q23.3 or", "q23.3 or fra 10", "or fra 10 q24.2", "10 q24.2 candidate", "gene", "rare folic", "type fragile", "candidate gene", "gene 1", "rare folic acid", "acid type fragile", "type fragile site", "site fra", "candidate gene 1", "rare folic acid type", "folic acid type fragile", "acid type fragile site", "fragile site fra", "site fra 10", "q23.3 candidate", "rare folic acid type fragile", "folic acid type fragile site", "type fragile site fra", "fragile site fra 10", "q23.3 candidate gene" ] }, { "record_id": "MONDO:0859313", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859313", "0859313", "mim:620114", "620114" ] }, { "record_id": "MONDO:0859313", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "speech", "impairment", "and", "or", "without", "seizures", "neurodevelopmental disorder", "disorder with", "with speech", "speech impairment", "impairment and", "and with", "with or", "or without", "without seizures", "neurodevelopmental disorder with", "disorder with speech", "with speech impairment", "speech impairment and", "impairment and with", "and with or", "with or without", "or without seizures", "neurodevelopmental disorder with speech", "disorder with speech impairment", "with speech impairment and", "speech impairment and with", "impairment and with or", "and with or without", "with or without seizures", "neurodevelopmental disorder with speech impairment", "disorder with speech impairment and", "with speech impairment and with", "speech impairment and with or", "impairment and with or without", "and with or without seizures" ] }, { "record_id": "MONDO:0859313", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859313", "record_type": "disease", "section": "proteins", "phraselist": [ "q9p0x4", "q9p0x4 1", "cac1i_human", "np_001003406", "glycoprotein", "cacna1i", "cav3.3", "kiaa1120", "nedsis", "ca", "3.3", "ca v", "v 3.3", "ca v 3.3" ] }, { "record_id": "MONDO:0859313", "record_type": "disease", "section": "proteins", "phraselist": [ "voltage", "dependent", "type", "calcium", "channel", "subunit", "alpha", "1i", "voltage dependent", "dependent t", "t type", "type calcium", "calcium channel", "channel subunit", "subunit alpha", "alpha 1i", "voltage dependent t", "dependent t type", "t type calcium", "type calcium channel", "calcium channel subunit", "channel subunit alpha", "subunit alpha 1i", "voltage dependent t type", "dependent t type calcium", "t type calcium channel", "type calcium channel subunit", "calcium channel subunit alpha", "channel subunit alpha 1i", "voltage dependent t type calcium", "dependent t type calcium channel", "t type calcium channel subunit", "type calcium channel subunit alpha", "calcium channel subunit alpha 1i", "ca", "3.3", "ca v", "v 3.3", "ca v 3.3", "gated", "cav3.3", "voltage gated", "gated calcium", "alpha cav3.3", "voltage gated calcium", "gated calcium channel", "subunit alpha cav3.3", "voltage gated calcium channel", "gated calcium channel subunit", "channel subunit alpha cav3.3", "voltage gated calcium channel subunit", "gated calcium channel subunit alpha", "calcium channel subunit alpha cav3.3", "1i subunit", "channel voltage", "type alpha", "alpha 1i subunit", "calcium channel voltage", "channel voltage dependent", "t type alpha", "type alpha 1i", "calcium channel voltage dependent", "t type alpha 1i", "type alpha 1i subunit", "dependent alpha", "voltage dependent alpha", "dependent alpha 1i", "voltage dependent alpha 1i", "dependent alpha 1i subunit", "isoform", "1i isoform", "isoform b", "alpha 1i isoform", "1i isoform b", "subunit alpha 1i isoform", "alpha 1i isoform b", "channel subunit alpha 1i isoform", "subunit alpha 1i isoform b" ] }, { "record_id": "MONDO:0859316", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859316", "0859316", "mim:620121", "620121" ] }, { "record_id": "MONDO:0859316", "record_type": "disease", "section": "disease_name", "phraselist": [ "iron", "overload", "susceptibility", "to", "iron overload", "susceptibility to", "overload susceptibility", "iron overload susceptibility", "overload susceptibility to", "iron overload susceptibility to" ] }, { "record_id": "MONDO:0859316", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859316", "record_type": "disease", "section": "proteins", "phraselist": [ "p22004", "p22004 1", "bmp6_human", "np_001709", "glycoprotein", "bmp6", "io", "vgr1", "vgr" ] }, { "record_id": "MONDO:0859316", "record_type": "disease", "section": "proteins", "phraselist": [ "bone", "morphogenetic", "protein", "bone morphogenetic", "morphogenetic protein", "protein 6", "bone morphogenetic protein", "morphogenetic protein 6", "bone morphogenetic protein 6", "bmp", "bmp 6", "vg", "vg 1", "1 r", "vg 1 r", "related", "1 related", "related protein", "vg 1 related", "1 related protein", "vg 1 related protein", "vgr", "vgr 1", "preproprotein", "6 preproprotein", "protein 6 preproprotein", "morphogenetic protein 6 preproprotein", "bone morphogenetic protein 6 preproprotein", "vegetal", "growth", "factor", "tgfb", "vegetal related", "related growth", "growth factor", "tgfb related", "vegetal related growth", "related growth factor", "factor tgfb", "vegetal related growth factor", "growth factor tgfb", "factor tgfb related", "related growth factor tgfb", "growth factor tgfb related" ] }, { "record_id": "MONDO:0859317", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859317", "0859317", "mim:620125", "620125" ] }, { "record_id": "MONDO:0859317", "record_type": "disease", "section": "disease_name", "phraselist": [ "pseudohypoaldosteronism", "type", "ib2", "autosomal", "recessive", "type ib2", "autosomal recessive", "pseudohypoaldosteronism type", "ib2 autosomal", "pseudohypoaldosteronism type ib2", "type ib2 autosomal", "ib2 autosomal recessive", "type ib2 autosomal recessive", "1b2", "pseudohypoaldosteronism 1b2", "1b2 autosomal", "pseudohypoaldosteronism 1b2 autosomal", "1b2 autosomal recessive", "pseudohypoaldosteronism 1b2 autosomal recessive" ] }, { "record_id": "MONDO:0859317", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859317", "record_type": "disease", "section": "proteins", "phraselist": [ "p51168", "p51168 1", "scnnb_human", "np_000327", "glycoprotein", "scnn1b", "besc1", "enacbeta", "enacb", "lidls1", "pha1b2", "scneb", "beta", "enac", "beta enac", "nach", "beta nach" ] }, { "record_id": "MONDO:0859317", "record_type": "disease", "section": "proteins", "phraselist": [ "epithelial", "sodium", "channel", "subunit", "beta", "epithelial sodium", "sodium channel", "channel subunit", "subunit beta", "epithelial sodium channel", "sodium channel subunit", "channel subunit beta", "epithelial sodium channel subunit", "sodium channel subunit beta", "epithelial sodium channel subunit beta", "amiloride", "sensitive", "amiloride sensitive", "sensitive sodium", "amiloride sensitive sodium", "sensitive sodium channel", "amiloride sensitive sodium channel", "sensitive sodium channel subunit", "amiloride sensitive sodium channel subunit", "sensitive sodium channel subunit beta", "enac", "beta enac", "nach", "beta nach", "enac subunit", "enac subunit beta", "enacb", "na", "epithelial na", "na +", "epithelial na +", "+ channel", "na + channel", "+ channel subunit", "epithelial na + channel", "na + channel subunit", "+ channel subunit beta", "nonvoltage", "gated", "nonvoltage gated", "gated sodium", "channel 1", "1 subunit", "nonvoltage gated sodium", "gated sodium channel", "sodium channel 1", "channel 1 subunit", "1 subunit beta", "nonvoltage gated sodium channel", "gated sodium channel 1", "sodium channel 1 subunit", "channel 1 subunit beta", "nonvoltage gated sodium channel 1", "gated sodium channel 1 subunit", "sodium channel 1 subunit beta", "scneb", "beta 1", "subunit beta 1", "channel subunit beta 1", "sodium channel subunit beta 1", "channel beta", "beta 2", "2 subunit", "sodium channel beta", "channel beta 2", "beta 2 subunit", "epithelial sodium channel beta", "sodium channel beta 2", "channel beta 2 subunit", "epithelial sodium channel beta 2", "sodium channel beta 2 subunit", "beta 3", "3 subunit", "channel beta 3", "beta 3 subunit", "sodium channel beta 3", "channel beta 3 subunit", "epithelial sodium channel beta 3", "sodium channel beta 3 subunit", "isoform", "beta isoform", "isoform 1", "subunit beta isoform", "beta isoform 1", "channel subunit beta isoform", "subunit beta isoform 1", "sodium channel subunit beta isoform", "channel subunit beta isoform 1", "mutant", "mutant sodium", "channel epithelial", "epithelial 1", "1 beta", "beta subunit", "mutant sodium channel", "sodium channel epithelial", "channel epithelial 1", "epithelial 1 beta", "1 beta subunit", "mutant sodium channel epithelial", "sodium channel epithelial 1", "channel epithelial 1 beta", "epithelial 1 beta subunit", "mutant sodium channel epithelial 1", "sodium channel epithelial 1 beta", "channel epithelial 1 beta subunit", "nasal", "nasal epithelial", "nasal epithelial sodium", "channel beta subunit", "nasal epithelial sodium channel", "sodium channel beta subunit", "nasal epithelial sodium channel beta", "epithelial sodium channel beta subunit", "non", "voltage", "non voltage", "voltage gated", "gated 1", "channel non", "non voltage gated", "voltage gated 1", "sodium channel non", "channel non voltage", "non voltage gated 1", "gated 1 beta", "sodium channel non voltage", "channel non voltage gated", "voltage gated 1 beta", "gated 1 beta subunit" ] }, { "record_id": "MONDO:0859318", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859318", "0859318", "mim:620126", "620126" ] }, { "record_id": "MONDO:0859318", "record_type": "disease", "section": "disease_name", "phraselist": [ "pseudohypoaldosteronism", "type", "ib3", "autosomal", "recessive", "type ib3", "autosomal recessive", "pseudohypoaldosteronism type", "ib3 autosomal", "pseudohypoaldosteronism type ib3", "type ib3 autosomal", "ib3 autosomal recessive", "type ib3 autosomal recessive", "1b3", "pseudohypoaldosteronism 1b3", "1b3 autosomal", "pseudohypoaldosteronism 1b3 autosomal", "1b3 autosomal recessive", "pseudohypoaldosteronism 1b3 autosomal recessive" ] }, { "record_id": "MONDO:0859318", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859318", "record_type": "disease", "section": "proteins", "phraselist": [ "p51170", "p51170 1", "scnng_human", "np_001030", "glycoprotein", "scnn1g", "besc3", "enacgamma", "enacg", "ldls2", "pha1b3", "pha1", "scneg" ] }, { "record_id": "MONDO:0859318", "record_type": "disease", "section": "proteins", "phraselist": [ "epithelial", "sodium", "channel", "subunit", "gamma", "epithelial sodium", "sodium channel", "channel subunit", "subunit gamma", "epithelial sodium channel", "sodium channel subunit", "channel subunit gamma", "epithelial sodium channel subunit", "sodium channel subunit gamma", "epithelial sodium channel subunit gamma", "amiloride", "sensitive", "amiloride sensitive", "sensitive sodium", "amiloride sensitive sodium", "sensitive sodium channel", "amiloride sensitive sodium channel", "sensitive sodium channel subunit", "amiloride sensitive sodium channel subunit", "sensitive sodium channel subunit gamma", "enac", "enac gamma", "gamma subunit", "enac gamma subunit", "enac subunit", "enac subunit gamma", "enacg", "na", "epithelial na", "na +", "epithelial na +", "+ channel", "na + channel", "+ channel subunit", "epithelial na + channel", "na + channel subunit", "+ channel subunit gamma", "gamma enac", "nach", "gamma nach", "nonvoltage", "gated", "nonvoltage gated", "gated sodium", "channel 1", "1 subunit", "nonvoltage gated sodium", "gated sodium channel", "sodium channel 1", "channel 1 subunit", "1 subunit gamma", "nonvoltage gated sodium channel", "gated sodium channel 1", "sodium channel 1 subunit", "channel 1 subunit gamma", "nonvoltage gated sodium channel 1", "gated sodium channel 1 subunit", "sodium channel 1 subunit gamma", "scneg", "channel epithelial", "epithelial 1", "sodium channel epithelial", "channel epithelial 1", "epithelial 1 subunit", "sodium channel epithelial 1", "channel epithelial 1 subunit", "epithelial 1 subunit gamma", "sodium channel epithelial 1 subunit", "channel epithelial 1 subunit gamma", "sensitive epithelial", "channel gamma", "amiloride sensitive epithelial", "sensitive epithelial sodium", "sodium channel gamma", "channel gamma subunit", "amiloride sensitive epithelial sodium", "sensitive epithelial sodium channel", "epithelial sodium channel gamma", "sodium channel gamma subunit", "amiloride sensitive epithelial sodium channel", "sensitive epithelial sodium channel gamma", "epithelial sodium channel gamma subunit", "sensitive sodium channel gamma", "amiloride sensitive sodium channel gamma", "sensitive sodium channel gamma subunit", "channe", "sodium channe", "channe epithelial", "1 gamma", "sodium channe epithelial", "channe epithelial 1", "epithelial 1 gamma", "1 gamma subunit", "sodium channe epithelial 1", "channe epithelial 1 gamma", "epithelial 1 gamma subunit", "sodium channe epithelial 1 gamma", "channe epithelial 1 gamma subunit", "channel epithelial 1 gamma", "sodium channel epithelial 1 gamma", "channel epithelial 1 gamma subunit", "non", "voltage", "non voltage", "voltage gated", "gated 1", "channel non", "non voltage gated", "voltage gated 1", "sodium channel non", "channel non voltage", "non voltage gated 1", "gated 1 gamma", "sodium channel non voltage", "channel non voltage gated", "voltage gated 1 gamma", "gated 1 gamma subunit", "channel nonvoltage", "nonvoltage gated 1", "sodium channel nonvoltage", "channel nonvoltage gated", "sodium channel nonvoltage gated", "channel nonvoltage gated 1", "nonvoltage gated 1 gamma" ] }, { "record_id": "MONDO:0859319", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859319", "0859319", "mim:620133", "620133" ] }, { "record_id": "MONDO:0859319", "record_type": "disease", "section": "disease_name", "phraselist": [ "dyskeratosis", "congenita", "autosomal", "recessive", "dyskeratosis congenita", "autosomal recessive", "recessive 8", "congenita autosomal", "autosomal recessive 8", "dyskeratosis congenita autosomal", "congenita autosomal recessive", "dyskeratosis congenita autosomal recessive", "congenita autosomal recessive 8" ] }, { "record_id": "MONDO:0859319", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859319", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h816", "q9h816 1", "dcr1b_human", "np_001306876", "dclre1b", "apollo", "dkcb8", "snm1b", "snmib" ] }, { "record_id": "MONDO:0859319", "record_type": "disease", "section": "proteins", "phraselist": [ "5'", "exonuclease", "apollo", "5' exonuclease", "exonuclease apollo", "5' exonuclease apollo", "3.1.", "3.1. .", "3.5.2.6", "isoform", "apollo isoform", "isoform b", "exonuclease apollo isoform", "apollo isoform b", "5' exonuclease apollo isoform", "exonuclease apollo isoform b", "5' exonuclease apollo isoform b", "beta", "lactamase", "dclre1b", "beta lactamase", "lactamase dclre1b", "beta lactamase dclre1b", "dna", "cross", "link", "repair", "1b", "pso2", "homolog", "s.", "cerevisiae", "dna cross", "cross link", "link repair", "repair 1b", "pso2 homolog", "s. cerevisiae", "dna cross link", "cross link repair", "link repair 1b", "1b pso2", "homolog s.", "dna cross link repair", "cross link repair 1b", "repair 1b pso2", "1b pso2 homolog", "pso2 homolog s.", "homolog s. cerevisiae", "dna cross link repair 1b", "link repair 1b pso2", "repair 1b pso2 homolog", "pso2 homolog s. cerevisiae", "protein", "1b protein", "repair 1b protein", "link repair 1b protein", "cross link repair 1b protein", "snm1", "snm1 homolog", "homolog b", "snm1 homolog b", "snmib", "hsnm1b" ] }, { "record_id": "MONDO:0859320", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859320", "0859320", "mim:620135", "620135" ] }, { "record_id": "MONDO:0859320", "record_type": "disease", "section": "disease_name", "phraselist": [ "mitochondrial", "complex", "deficiency", "nuclear", "type", "39", "mitochondrial complex", "complex i", "i deficiency", "nuclear type", "type 39", "mitochondrial complex i", "complex i deficiency", "deficiency nuclear", "nuclear type 39", "mitochondrial complex i deficiency", "i deficiency nuclear", "deficiency nuclear type", "complex i deficiency nuclear", "i deficiency nuclear type", "deficiency nuclear type 39" ] }, { "record_id": "MONDO:0859320", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859320", "record_type": "disease", "section": "proteins", "phraselist": [ "p17568", "p17568 1", "ndub7_human", "np_004137", "glycoprotein", "ndufb7", "b18", "ci", "ci b18", "mc1dn39" ] }, { "record_id": "MONDO:0859320", "record_type": "disease", "section": "proteins", "phraselist": [ "nadh", "dehydrogenase", "ubiquinone", "beta", "subcomplex", "subunit", "nadh dehydrogenase", "1 beta", "beta subcomplex", "subcomplex subunit", "subunit 7", "dehydrogenase ubiquinone", "ubiquinone 1", "1 beta subcomplex", "beta subcomplex subunit", "subcomplex subunit 7", "nadh dehydrogenase ubiquinone", "ubiquinone 1 beta", "1 beta subcomplex subunit", "beta subcomplex subunit 7", "dehydrogenase ubiquinone 1", "ubiquinone 1 beta subcomplex", "1 beta subcomplex subunit 7", "ci", "b18", "ci b18", "cell", "adhesion", "protein", "sqm1", "cell adhesion", "adhesion protein", "protein sqm1", "cell adhesion protein", "adhesion protein sqm1", "cell adhesion protein sqm1", "complex", "complex i", "i b18", "complex i b18", "18kda", "subcomplex 7", "7 18kda", "beta subcomplex 7", "1 beta subcomplex 7", "subcomplex 7 18kda", "oxidoreductase", "nadh ubiquinone", "ubiquinone oxidoreductase", "oxidoreductase b18", "b18 subunit", "nadh ubiquinone oxidoreductase", "ubiquinone oxidoreductase b18", "oxidoreductase b18 subunit", "nadh ubiquinone oxidoreductase b18", "ubiquinone oxidoreductase b18 subunit", "nadh ubiquinone oxidoreductase b18 subunit", "i b18 subunit", "complex i b18 subunit" ] }, { "record_id": "MONDO:0859321", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859321", "0859321", "mim:620137", "620137" ] }, { "record_id": "MONDO:0859321", "record_type": "disease", "section": "disease_name", "phraselist": [ "mitochondrial", "complex", "iii", "deficiency", "nuclear", "type", "11", "mitochondrial complex", "complex iii", "iii deficiency", "nuclear type", "type 11", "mitochondrial complex iii", "complex iii deficiency", "deficiency nuclear", "nuclear type 11", "mitochondrial complex iii deficiency", "iii deficiency nuclear", "deficiency nuclear type", "complex iii deficiency nuclear", "iii deficiency nuclear type", "deficiency nuclear type 11" ] }, { "record_id": "MONDO:0859321", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859321", "record_type": "disease", "section": "proteins", "phraselist": [ "p07919", "p07919 1", "qcr6_human", "np_005995", "uqcrh", "mc3dn11", "qcr6", "uqcr8" ] }, { "record_id": "MONDO:0859321", "record_type": "disease", "section": "proteins", "phraselist": [ "cytochrome", "c1", "complex", "subunit", "mitochondrial", "cytochrome b", "b c1", "c1 complex", "complex subunit", "subunit 6", "cytochrome b c1", "b c1 complex", "c1 complex subunit", "complex subunit 6", "6 mitochondrial", "cytochrome b c1 complex", "b c1 complex subunit", "c1 complex subunit 6", "subunit 6 mitochondrial", "cytochrome b c1 complex subunit", "b c1 complex subunit 6", "complex subunit 6 mitochondrial", "iii", "complex iii", "iii subunit", "complex iii subunit", "iii subunit 6", "complex iii subunit 6", "viii", "subunit viii", "iii subunit viii", "complex iii subunit viii", "non", "heme", "11", "kda", "protein", "cytochrome c1", "c1 non", "non heme", "heme 11", "11 kda", "kda protein", "cytochrome c1 non", "c1 non heme", "non heme 11", "heme 11 kda", "11 kda protein", "cytochrome c1 non heme", "c1 non heme 11", "non heme 11 kda", "heme 11 kda protein", "cytochrome c1 non heme 11", "c1 non heme 11 kda", "non heme 11 kda protein", "hinge", "mitochondrial hinge", "hinge protein", "mitochondrial hinge protein", "ubiquinol", "reductase", "ubiquinol cytochrome", "cytochrome c", "c reductase", "reductase complex", "complex 11", "ubiquinol cytochrome c", "cytochrome c reductase", "c reductase complex", "reductase complex 11", "complex 11 kda", "ubiquinol cytochrome c reductase", "cytochrome c reductase complex", "c reductase complex 11", "reductase complex 11 kda", "complex 11 kda protein", "ubiquinol cytochrome c reductase complex", "cytochrome c reductase complex 11", "c reductase complex 11 kda", "reductase complex 11 kda protein", "isoform", "precursor", "mitochondrial isoform", "isoform 1", "1 precursor", "mitochondrial isoform 1", "isoform 1 precursor", "6 mitochondrial isoform", "mitochondrial isoform 1 precursor", "subunit 6 mitochondrial isoform", "6 mitochondrial isoform 1", "reductase complex iii", "c reductase complex iii", "reductase complex iii subunit" ] }, { "record_id": "MONDO:0859324", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859324", "0859324", "mim:620141", "620141" ] }, { "record_id": "MONDO:0859324", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "delay", "language", "impairment", "and", "ocular", "abnormalities", "developmental delay", "language impairment", "and ocular", "ocular abnormalities", "delay language", "impairment and", "and ocular abnormalities", "developmental delay language", "delay language impairment", "language impairment and", "impairment and ocular", "developmental delay language impairment", "language impairment and ocular", "impairment and ocular abnormalities" ] }, { "record_id": "MONDO:0859324", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859324", "record_type": "disease", "section": "proteins", "phraselist": [ "p59998", "p59998 1", "arpc4_human", "np_001020130", "glycoprotein", "arpc4", "arc20", "devlo", "p20", "arc", "p20 arc" ] }, { "record_id": "MONDO:0859324", "record_type": "disease", "section": "proteins", "phraselist": [ "actin", "related", "protein", "2/3", "complex", "subunit", "actin related", "related protein", "protein 2/3", "2/3 complex", "complex subunit", "subunit 4", "actin related protein", "related protein 2/3", "protein 2/3 complex", "2/3 complex subunit", "complex subunit 4", "actin related protein 2/3", "related protein 2/3 complex", "protein 2/3 complex subunit", "2/3 complex subunit 4", "actin related protein 2/3 complex", "related protein 2/3 complex subunit", "protein 2/3 complex subunit 4", "arp2/3", "20", "kda", "arp2/3 complex", "complex 20", "20 kda", "kda subunit", "arp2/3 complex 20", "complex 20 kda", "20 kda subunit", "arp2/3 complex 20 kda", "complex 20 kda subunit", "arp2/3 complex 20 kda subunit", "20kda", "4 20kda", "subunit 4 20kda", "isoform", "4 isoform", "isoform b", "subunit 4 isoform", "4 isoform b", "complex subunit 4 isoform", "subunit 4 isoform b", "2/3 complex subunit 4 isoform", "complex subunit 4 isoform b", "p20", "arp2/3 protein", "protein complex", "subunit p20", "arp2/3 protein complex", "protein complex subunit", "complex subunit p20", "arp2/3 protein complex subunit", "protein complex subunit p20", "arp2/3 protein complex subunit p20", "arc", "p20 arc" ] }, { "record_id": "MONDO:0859330", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859330", "0859330", "mim:620154", "620154" ] }, { "record_id": "MONDO:0859330", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte", "maturation", "defect", "13", "oocyte maturation", "maturation defect", "defect 13", "oocyte maturation defect", "maturation defect 13", "oocyte maturation defect 13", "oocyte/zygote/embryo", "arrest", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 13", "oocyte/zygote/embryo maturation arrest", "maturation arrest 13", "oocyte/zygote/embryo maturation arrest 13" ] }, { "record_id": "MONDO:0859330", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859330", "record_type": "disease", "section": "proteins", "phraselist": [ "p47974", "p47974 1", "tisd_human", "np_008818", "glycoprotein", "zfp36l2", "brf2", "erf", "erf 2", "erf2", "oomd13", "ozema13", "rnf162c", "tis11d" ] }, { "record_id": "MONDO:0859330", "record_type": "disease", "section": "proteins", "phraselist": [ "mrna", "decay", "activator", "protein", "zfp36l2", "mrna decay", "decay activator", "activator protein", "protein zfp36l2", "mrna decay activator", "decay activator protein", "activator protein zfp36l2", "mrna decay activator protein", "decay activator protein zfp36l2", "mrna decay activator protein zfp36l2", "butyrate", "response", "factor", "butyrate response", "response factor", "factor 2", "butyrate response factor", "response factor 2", "butyrate response factor 2", "egf", "egf response", "egf response factor", "egf response factor 2", "erf", "erf 2", "tpa", "induced", "sequence", "11d", "tpa induced", "induced sequence", "sequence 11d", "tpa induced sequence", "induced sequence 11d", "tpa induced sequence 11d", "zfp36", "ring", "finger", "like", "zfp36 ring", "ring finger", "finger protein", "protein like", "like 2", "zfp36 ring finger", "ring finger protein", "finger protein like", "protein like 2", "zfp36 ring finger protein", "ring finger protein like", "finger protein like 2", "zfp36 ring finger protein like", "ring finger protein like 2", "zfp36 like", "zfp36 like 2", "zinc", "36", "c3h1", "type", "zinc finger", "protein 36", "c3h1 type", "type like", "zinc finger protein", "finger protein 36", "36 c3h1", "c3h1 type like", "type like 2", "zinc finger protein 36", "protein 36 c3h1", "36 c3h1 type", "c3h1 type like 2", "finger protein 36 c3h1", "protein 36 c3h1 type", "36 c3h1 type like", "2 egf", "factor 2 egf", "2 egf response", "response factor 2 egf", "factor 2 egf response", "2 egf response factor", "c3h", "c3h type", "like 1", "36 c3h", "c3h type like", "type like 1", "protein 36 c3h", "36 c3h type", "c3h type like 1", "finger protein 36 c3h", "protein 36 c3h type", "36 c3h type like", "c3h type like 2", "36 like", "protein c3h", "type 36", "36 like 2", "finger protein c3h", "protein c3h type", "c3h type 36", "type 36 like", "zinc finger protein c3h", "finger protein c3h type", "c3h type 36 like", "type 36 like 2" ] }, { "record_id": "MONDO:0859331", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859331", "0859331", "mim:620155", "620155" ] }, { "record_id": "MONDO:0859331", "record_type": "disease", "section": "disease_name", "phraselist": [ "rabin", "pappas", "syndrome", "rabin pappas", "pappas syndrome", "rabin pappas syndrome" ] }, { "record_id": "MONDO:0859331", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859331", "record_type": "disease", "section": "proteins", "phraselist": [ "q9byw2", "q9byw2 1", "setd2_human", "np_054878", "glycoprotein", "setd2", "hbp231", "hif", "hif 1", "hif1", "hip", "hip 1", "hspc069", "hypb", "kiaa1732", "kmt3a", "lls", "mrd70", "rapas", "set2", "p231hbp" ] }, { "record_id": "MONDO:0859331", "record_type": "disease", "section": "proteins", "phraselist": [ "histone", "lysine", "methyltransferase", "setd2", "histone lysine", "lysine n", "n methyltransferase", "methyltransferase setd2", "histone lysine n", "lysine n methyltransferase", "n methyltransferase setd2", "histone lysine n methyltransferase", "lysine n methyltransferase setd2", "histone lysine n methyltransferase setd2", "2.1.1.", "2.1.1.359", "hif", "hif 1", "hip", "hip 1", "huntingtin", "yeast", "partner", "huntingtin yeast", "yeast partner", "partner b", "huntingtin yeast partner", "yeast partner b", "huntingtin yeast partner b", "interacting", "protein", "huntingtin interacting", "interacting protein", "protein 1", "huntingtin interacting protein", "interacting protein 1", "huntingtin interacting protein 1", "protein b", "interacting protein b", "huntingtin interacting protein b", "3a", "methyltransferase 3a", "n methyltransferase 3a", "lysine n methyltransferase 3a", "protein lysine", "protein lysine n", "protein lysine n methyltransferase", "protein lysine n methyltransferase setd2", "set", "domain", "containing", "set domain", "domain containing", "containing protein", "protein 2", "set domain containing", "domain containing protein", "containing protein 2", "set domain containing protein", "domain containing protein 2", "set domain containing protein 2", "hset2", "isoform", "setd2 isoform", "isoform 1", "methyltransferase setd2 isoform", "setd2 isoform 1", "n methyltransferase setd2 isoform", "methyltransferase setd2 isoform 1", "lysine n methyltransferase setd2 isoform", "n methyltransferase setd2 isoform 1", "p231hbp" ] }, { "record_id": "MONDO:0859334", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859334", "0859334", "mim:620158", "620158" ] }, { "record_id": "MONDO:0859334", "record_type": "disease", "section": "disease_name", "phraselist": [ "spinocerebellar", "ataxia", "50", "spinocerebellar ataxia", "ataxia 50", "spinocerebellar ataxia 50" ] }, { "record_id": "MONDO:0859334", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859334", "record_type": "disease", "section": "proteins", "phraselist": [ "q15818", "q15818 1", "nptx1_human", "np_002513", "glycoprotein", "nptx1", "np1", "sca50" ] }, { "record_id": "MONDO:0859334", "record_type": "disease", "section": "proteins", "phraselist": [ "neuronal", "pentraxin", "neuronal pentraxin", "pentraxin 1", "neuronal pentraxin 1", "np", "np i", "np1", "pentraxin i", "neuronal pentraxin i", "precursor", "1 precursor", "pentraxin 1 precursor", "neuronal pentraxin 1 precursor" ] }, { "record_id": "MONDO:0859336", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859336", "0859336", "mim:620166", "620166" ] }, { "record_id": "MONDO:0859336", "record_type": "disease", "section": "disease_name", "phraselist": [ "muscular", "dystrophy", "congenital", "with", "or", "without", "seizures", "muscular dystrophy", "with or", "or without", "without seizures", "dystrophy congenital", "congenital with", "with or without", "or without seizures", "muscular dystrophy congenital", "congenital with or", "with or without seizures", "dystrophy congenital with", "congenital with or without" ] }, { "record_id": "MONDO:0859336", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859336", "record_type": "disease", "section": "proteins", "phraselist": [ "o14653", "o14653 1", "gosr2_human", "np_001012529", "gosr2", "bos1", "epm6", "gs27", "myos" ] }, { "record_id": "MONDO:0859336", "record_type": "disease", "section": "proteins", "phraselist": [ "golgi", "snap", "receptor", "complex", "member", "golgi snap", "snap receptor", "receptor complex", "complex member", "member 2", "golgi snap receptor", "snap receptor complex", "receptor complex member", "complex member 2", "golgi snap receptor complex", "snap receptor complex member", "receptor complex member 2", "golgi snap receptor complex member", "snap receptor complex member 2", "27", "kda", "snare", "protein", "27 kda", "kda golgi", "golgi snare", "snare protein", "27 kda golgi", "kda golgi snare", "golgi snare protein", "27 kda golgi snare", "kda golgi snare protein", "27 kda golgi snare protein", "isoform", "2 isoform", "isoform c", "member 2 isoform", "2 isoform c", "complex member 2 isoform", "member 2 isoform c", "receptor complex member 2 isoform", "complex member 2 isoform c", "membrin" ] }, { "record_id": "MONDO:0859339", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859339", "0859339", "mim:620173", "620173" ] }, { "record_id": "MONDO:0859339", "record_type": "disease", "section": "disease_name", "phraselist": [ "tooth", "agenesis", "selective", "10", "tooth agenesis", "agenesis selective", "selective 10", "tooth agenesis selective", "agenesis selective 10" ] }, { "record_id": "MONDO:0859339", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859339", "record_type": "disease", "section": "proteins", "phraselist": [ "q8wu66", "q8wu66 1", "tsear_human", "np_001258966", "glycoprotein", "tspear", "c21orf29", "dfnb98", "ectd14", "sthag10", "tsp", "ear", "tsp ear" ] }, { "record_id": "MONDO:0859339", "record_type": "disease", "section": "proteins", "phraselist": [ "thrombospondin", "type", "laminin", "domain", "and", "ear", "repeat", "containing", "protein", "thrombospondin type", "type laminin", "laminin g", "g domain", "domain and", "and ear", "ear repeat", "repeat containing", "containing protein", "thrombospondin type laminin", "type laminin g", "laminin g domain", "g domain and", "domain and ear", "and ear repeat", "ear repeat containing", "repeat containing protein", "thrombospondin type laminin g", "type laminin g domain", "laminin g domain and", "g domain and ear", "domain and ear repeat", "and ear repeat containing", "ear repeat containing protein", "thrombospondin type laminin g domain", "type laminin g domain and", "laminin g domain and ear", "g domain and ear repeat", "domain and ear repeat containing", "and ear repeat containing protein", "tsp", "tsp ear", "isoform", "protein isoform", "isoform 2", "containing protein isoform", "protein isoform 2", "repeat containing protein isoform", "containing protein isoform 2", "ear repeat containing protein isoform", "repeat containing protein isoform 2", "repeats", "ear repeats", "repeats containing", "and ear repeats", "ear repeats containing", "repeats containing protein", "domain and ear repeats", "and ear repeats containing", "ear repeats containing protein", "g domain and ear repeats", "domain and ear repeats containing", "and ear repeats containing protein" ] }, { "record_id": "MONDO:0859347", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859347", "0859347", "mim:620191", "620191" ] }, { "record_id": "MONDO:0859347", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hypotonia", "dysmorphic", "facies", "and", "skin", "abnormalities", "neurodevelopmental disorder", "disorder with", "with hypotonia", "dysmorphic facies", "and skin", "skin abnormalities", "neurodevelopmental disorder with", "disorder with hypotonia", "hypotonia dysmorphic", "facies and", "and skin abnormalities", "neurodevelopmental disorder with hypotonia", "with hypotonia dysmorphic", "hypotonia dysmorphic facies", "dysmorphic facies and", "facies and skin", "disorder with hypotonia dysmorphic", "with hypotonia dysmorphic facies", "dysmorphic facies and skin", "facies and skin abnormalities" ] }, { "record_id": "MONDO:0859347", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859347", "record_type": "disease", "section": "proteins", "phraselist": [ "q6pce3", "q6pce3 1", "pgm2l_human", "np_775853", "glycoprotein", "pgm2l1", "bm32a", "nedhfs", "pmmlp" ] }, { "record_id": "MONDO:0859347", "record_type": "disease", "section": "proteins", "phraselist": [ "glucose", "bisphosphate", "synthase", "glucose 1", "1 6", "6 bisphosphate", "bisphosphate synthase", "glucose 1 6", "1 6 bisphosphate", "6 bisphosphate synthase", "glucose 1 6 bisphosphate", "1 6 bisphosphate synthase", "glucose 1 6 bisphosphate synthase", "2.7.1.106", "pmmlp", "phosphoglucomutase", "like", "phosphoglucomutase 2", "2 like", "like 1", "phosphoglucomutase 2 like", "2 like 1", "phosphoglucomutase 2 like 1" ] }, { "record_id": "MONDO:0859350", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859350", "0859350", "mim:620194", "620194" ] }, { "record_id": "MONDO:0859350", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "poor", "growth", "large", "ears", "and", "dysmorphic", "facies", "neurodevelopmental disorder", "disorder with", "with poor", "poor growth", "large ears", "and dysmorphic", "dysmorphic facies", "neurodevelopmental disorder with", "disorder with poor", "with poor growth", "growth large", "ears and", "and dysmorphic facies", "neurodevelopmental disorder with poor", "disorder with poor growth", "poor growth large", "growth large ears", "large ears and", "ears and dysmorphic", "neurodevelopmental disorder with poor growth", "with poor growth large", "poor growth large ears", "large ears and dysmorphic", "ears and dysmorphic facies" ] }, { "record_id": "MONDO:0859350", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859350", "record_type": "disease", "section": "proteins", "phraselist": [ "q96k58", "q96k58 1", "zn668_human", "np_001166139", "znf668", "nedgef" ] }, { "record_id": "MONDO:0859350", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "protein", "668", "zinc finger", "finger protein", "protein 668", "zinc finger protein", "finger protein 668", "zinc finger protein 668", "isoform", "668 isoform", "isoform a", "protein 668 isoform", "668 isoform a", "finger protein 668 isoform", "protein 668 isoform a", "zinc finger protein 668 isoform", "finger protein 668 isoform a" ] }, { "record_id": "MONDO:0859351", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859351", "0859351", "mim:620195", "620195" ] }, { "record_id": "MONDO:0859351", "record_type": "disease", "section": "disease_name", "phraselist": [ "obesity", "and", "hypopigmentation", "obesity and", "and hypopigmentation", "obesity and hypopigmentation" ] }, { "record_id": "MONDO:0859351", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859351", "record_type": "disease", "section": "proteins", "phraselist": [ "p42127", "p42127 1", "asip_human", "np_001663", "glycoprotein", "asip", "agsw", "agtil", "agti", "asp", "shep9" ] }, { "record_id": "MONDO:0859351", "record_type": "disease", "section": "proteins", "phraselist": [ "agouti", "signaling", "protein", "agouti signaling", "signaling protein", "agouti signaling protein", "asp", "switch", "agouti switch", "switch protein", "agouti switch protein", "nonagouti", "homolog", "nonagouti homolog", "protein nonagouti", "signaling protein nonagouti", "protein nonagouti homolog", "agouti signaling protein nonagouti", "signaling protein nonagouti homolog", "precursor", "protein precursor", "signaling protein precursor", "agouti signaling protein precursor" ] }, { "record_id": "MONDO:0859353", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859353", "0859353", "mim:620197", "620197" ] }, { "record_id": "MONDO:0859353", "record_type": "disease", "section": "disease_name", "phraselist": [ "ciliary", "dyskinesia", "primary", "49", "without", "situs", "inversus", "ciliary dyskinesia", "without situs", "situs inversus", "dyskinesia primary", "primary 49", "49 without", "without situs inversus", "ciliary dyskinesia primary", "49 without situs", "dyskinesia primary 49", "primary 49 without", "49 without situs inversus" ] }, { "record_id": "MONDO:0859353", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859353", "record_type": "disease", "section": "proteins", "phraselist": [ "q9c0b2", "q9c0b2 1", "cfa74_human", "np_001291289", "glycoprotein", "cfap74", "c1orf222", "cild49", "kiaa1751" ] }, { "record_id": "MONDO:0859353", "record_type": "disease", "section": "proteins", "phraselist": [ "cilia", "and", "flagella", "associated", "protein", "74", "and flagella", "flagella associated", "associated protein", "protein 74", "cilia and", "and flagella associated", "flagella associated protein", "associated protein 74", "cilia and flagella", "and flagella associated protein", "flagella associated protein 74", "cilia and flagella associated", "and flagella associated protein 74" ] }, { "record_id": "MONDO:0859358", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859358", "0859358", "mim:620203", "620203" ] }, { "record_id": "MONDO:0859358", "record_type": "disease", "section": "disease_name", "phraselist": [ "cardiomyopathy", "dilated", "2h", "cardiomyopathy dilated", "dilated 2h", "cardiomyopathy dilated 2h" ] }, { "record_id": "MONDO:0859358", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859358", "record_type": "disease", "section": "proteins", "phraselist": [ "o43681", "o43681 1", "get3_human", "np_004308", "glycoprotein", "get3", "arsa", "arsa i", "arsa1", "asna", "asna i", "asna1", "cmd2h", "trc40" ] }, { "record_id": "MONDO:0859358", "record_type": "disease", "section": "proteins", "phraselist": [ "atpase", "get3", "atpase get3", "3.6.4.", "arsenical", "pump", "driving", "arsenical pump", "pump driving", "driving atpase", "arsenical pump driving", "pump driving atpase", "arsenical pump driving atpase", "arsenite", "stimulated", "arsenite stimulated", "stimulated atpase", "arsenite stimulated atpase", "guided", "entry", "of", "tail", "anchored", "proteins", "factor", "guided entry", "entry of", "of tail", "tail anchored", "anchored proteins", "proteins factor", "factor 3", "guided entry of", "entry of tail", "of tail anchored", "tail anchored proteins", "anchored proteins factor", "proteins factor 3", "3 atpase", "guided entry of tail", "entry of tail anchored", "of tail anchored proteins", "tail anchored proteins factor", "anchored proteins factor 3", "factor 3 atpase", "guided entry of tail anchored", "entry of tail anchored proteins", "of tail anchored proteins factor", "tail anchored proteins factor 3", "proteins factor 3 atpase", "transmembrane", "domain", "recognition", "complex", "40", "kda", "subunit", "transmembrane domain", "domain recognition", "recognition complex", "complex 40", "40 kda", "kda atpase", "atpase subunit", "transmembrane domain recognition", "domain recognition complex", "recognition complex 40", "complex 40 kda", "40 kda atpase", "kda atpase subunit", "transmembrane domain recognition complex", "domain recognition complex 40", "recognition complex 40 kda", "complex 40 kda atpase", "40 kda atpase subunit", "transmembrane domain recognition complex 40", "domain recognition complex 40 kda", "recognition complex 40 kda atpase", "complex 40 kda atpase subunit", "arsa", "transporter", "atp", "binding", "homolog", "arsa arsenite", "arsenite transporter", "atp binding", "homolog 1", "arsa arsenite transporter", "transporter atp", "binding homolog", "arsenite transporter atp", "transporter atp binding", "atp binding homolog", "binding homolog 1", "arsa arsenite transporter atp", "arsenite transporter atp binding", "atp binding homolog 1", "golgi", "to", "er", "traffic", "golgi to", "to er", "er traffic", "traffic 3", "3 homolog", "golgi to er", "to er traffic", "er traffic 3", "traffic 3 homolog", "golgi to er traffic", "to er traffic 3", "er traffic 3 homolog", "golgi to er traffic 3", "to er traffic 3 homolog", "harsa", "harsa i", "hasna", "hasna i" ] }, { "record_id": "MONDO:0859361", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859361", "0859361", "mim:620210", "620210" ] }, { "record_id": "MONDO:0859361", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "dysmorphic", "facies", "and", "ischiopubic", "hypoplasia", "neurodevelopmental disorder", "disorder with", "with dysmorphic", "dysmorphic facies", "facies and", "and ischiopubic", "ischiopubic hypoplasia", "neurodevelopmental disorder with", "disorder with dysmorphic", "with dysmorphic facies", "dysmorphic facies and", "facies and ischiopubic", "and ischiopubic hypoplasia", "neurodevelopmental disorder with dysmorphic", "disorder with dysmorphic facies", "with dysmorphic facies and", "dysmorphic facies and ischiopubic", "facies and ischiopubic hypoplasia", "neurodevelopmental disorder with dysmorphic facies", "disorder with dysmorphic facies and", "with dysmorphic facies and ischiopubic", "dysmorphic facies and ischiopubic hypoplasia" ] }, { "record_id": "MONDO:0859361", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859361", "record_type": "disease", "section": "proteins", "phraselist": [ "q13564", "q13564 1", "ula1_human", "np_001018169", "glycoprotein", "nae1", "116a10.1", "a 116a10.1", "appbp1", "hpp1", "nedfih", "ula", "ula 1" ] }, { "record_id": "MONDO:0859361", "record_type": "disease", "section": "proteins", "phraselist": [ "nedd8", "activating", "enzyme", "e1", "regulatory", "subunit", "nedd8 activating", "activating enzyme", "enzyme e1", "e1 regulatory", "regulatory subunit", "nedd8 activating enzyme", "activating enzyme e1", "enzyme e1 regulatory", "e1 regulatory subunit", "nedd8 activating enzyme e1", "activating enzyme e1 regulatory", "enzyme e1 regulatory subunit", "nedd8 activating enzyme e1 regulatory", "activating enzyme e1 regulatory subunit", "app", "bp1", "app bp1", "amyloid", "beta", "precursor", "protein", "binding", "59", "kda", "amyloid beta", "beta precursor", "precursor protein", "protein binding", "binding protein", "protein 1", "59 kda", "amyloid beta precursor", "beta precursor protein", "precursor protein binding", "protein binding protein", "binding protein 1", "1 59", "amyloid beta precursor protein", "beta precursor protein binding", "precursor protein binding protein", "protein binding protein 1", "protein 1 59", "1 59 kda", "amyloid beta precursor protein binding", "beta precursor protein binding protein", "precursor protein binding protein 1", "binding protein 1 59", "protein 1 59 kda", "amyloid protein", "amyloid protein binding", "amyloid protein binding protein", "amyloid protein binding protein 1", "isoform", "subunit isoform", "isoform b", "regulatory subunit isoform", "subunit isoform b", "e1 regulatory subunit isoform", "regulatory subunit isoform b", "enzyme e1 regulatory subunit isoform", "e1 regulatory subunit isoform b", "e1 subunit", "enzyme e1 subunit", "activating enzyme e1 subunit", "nedd8 activating enzyme e1 subunit", "proto", "oncogene", "proto oncogene", "oncogene protein", "proto oncogene protein", "oncogene protein 1", "proto oncogene protein 1", "59kda", "1 59kda", "protein 1 59kda", "binding protein 1 59kda", "59kd", "1 59kd", "protein 1 59kd", "binding protein 1 59kd", "protooncogene", "protooncogene protein", "protooncogene protein 1" ] }, { "record_id": "MONDO:0859365", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859365", "0859365", "mim:620224", "620224" ] }, { "record_id": "MONDO:0859365", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hypotonia", "dysmorphic", "facies", "and", "skeletal", "anomalies", "or", "without", "seizures", "neurodevelopmental disorder", "disorder with", "with hypotonia", "dysmorphic facies", "and skeletal", "skeletal anomalies", "with or", "or without", "without seizures", "neurodevelopmental disorder with", "disorder with hypotonia", "hypotonia dysmorphic", "facies and", "and skeletal anomalies", "anomalies with", "with or without", "or without seizures", "neurodevelopmental disorder with hypotonia", "with hypotonia dysmorphic", "hypotonia dysmorphic facies", "dysmorphic facies and", "facies and skeletal", "skeletal anomalies with", "anomalies with or", "with or without seizures", "disorder with hypotonia dysmorphic", "with hypotonia dysmorphic facies", "dysmorphic facies and skeletal", "facies and skeletal anomalies", "and skeletal anomalies with", "skeletal anomalies with or", "anomalies with or without" ] }, { "record_id": "MONDO:0859365", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859365", "record_type": "disease", "section": "proteins", "phraselist": [ "q9hcf6", "q9hcf6 1", "trpm3_human", "np_001007472", "glycoprotein", "trpm3", "ctrct50", "gon", "gon 2", "kiaa1616", "ltrpc3", "mlsn2", "nedfss" ] }, { "record_id": "MONDO:0859365", "record_type": "disease", "section": "proteins", "phraselist": [ "transient", "receptor", "potential", "cation", "channel", "subfamily", "member", "transient receptor", "receptor potential", "potential cation", "cation channel", "channel subfamily", "subfamily m", "m member", "member 3", "transient receptor potential", "receptor potential cation", "potential cation channel", "cation channel subfamily", "channel subfamily m", "subfamily m member", "m member 3", "transient receptor potential cation", "receptor potential cation channel", "potential cation channel subfamily", "cation channel subfamily m", "channel subfamily m member", "subfamily m member 3", "transient receptor potential cation channel", "receptor potential cation channel subfamily", "potential cation channel subfamily m", "cation channel subfamily m member", "channel subfamily m member 3", "ltrpc", "ltrpc 3", "ltrpc3", "long", "long transient", "potential channel", "channel 3", "long transient receptor", "receptor potential channel", "potential channel 3", "long transient receptor potential", "transient receptor potential channel", "receptor potential channel 3", "long transient receptor potential channel", "transient receptor potential channel 3", "mlsn2", "melastatin", "melastatin 2", "isoform", "3 isoform", "isoform k", "member 3 isoform", "3 isoform k", "m member 3 isoform", "member 3 isoform k", "subfamily m member 3 isoform", "m member 3 isoform k" ] }, { "record_id": "MONDO:0859368", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859368", "0859368", "mim:620231", "620231" ] }, { "record_id": "MONDO:0859368", "record_type": "disease", "section": "disease_name", "phraselist": [ "short", "qt", "syndrome", "short qt", "qt syndrome", "syndrome 7", "short qt syndrome", "qt syndrome 7", "short qt syndrome 7" ] }, { "record_id": "MONDO:0859368", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859368", "record_type": "disease", "section": "proteins", "phraselist": [ "p48751", "p48751 1", "b3a3_human", "np_001313488", "glycoprotein", "slc4a3", "ae3", "cae3/bae3", "slc2c", "sqt7" ] }, { "record_id": "MONDO:0859368", "record_type": "disease", "section": "proteins", "phraselist": [ "anion", "exchange", "protein", "anion exchange", "exchange protein", "protein 3", "anion exchange protein", "exchange protein 3", "anion exchange protein 3", "ae", "ae 3", "exchanger", "neuronal", "anion exchanger", "exchanger 3", "anion exchanger 3", "3 neuronal", "exchanger 3 neuronal", "anion exchanger 3 neuronal", "cae3/bae3", "cardiac/brain", "band", "like", "cardiac/brain band", "band 3", "3 like", "like protein", "cardiac/brain band 3", "band 3 like", "3 like protein", "cardiac/brain band 3 like", "band 3 like protein", "cardiac/brain band 3 like protein", "neuronal band", "neuronal band 3", "neuronal band 3 like", "neuronal band 3 like protein", "solute", "carrier", "family", "member", "solute carrier", "carrier family", "family 4", "4 member", "member 3", "solute carrier family", "carrier family 4", "family 4 member", "4 member 3", "solute carrier family 4", "carrier family 4 member", "family 4 member 3", "solute carrier family 4 member", "carrier family 4 member 3", "isoform", "3 isoform", "isoform 2", "protein 3 isoform", "3 isoform 2", "exchange protein 3 isoform", "protein 3 isoform 2", "anion exchange protein 3 isoform", "exchange protein 3 isoform 2", "4 anion", "family 4 anion", "4 anion exchanger", "exchanger member", "carrier family 4 anion", "family 4 anion exchanger", "anion exchanger member", "exchanger member 3" ] }, { "record_id": "MONDO:0859369", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859369", "0859369", "mim:620232", "620232" ] }, { "record_id": "MONDO:0859369", "record_type": "disease", "section": "disease_name", "phraselist": [ "joint", "contractures", "osteochondromas", "and", "cell", "lymphoma", "joint contractures", "and b", "b cell", "cell lymphoma", "contractures osteochondromas", "osteochondromas and", "and b cell", "b cell lymphoma", "joint contractures osteochondromas", "osteochondromas and b", "and b cell lymphoma", "contractures osteochondromas and", "osteochondromas and b cell" ] }, { "record_id": "MONDO:0859369", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859369", "record_type": "disease", "section": "proteins", "phraselist": [ "q13469", "q13469 1", "nfac2_human", "np_001129493", "glycoprotein", "nfatc2", "jcosl", "nfat1", "nfatp" ] }, { "record_id": "MONDO:0859369", "record_type": "disease", "section": "proteins", "phraselist": [ "nuclear", "factor", "of", "activated", "cells", "cytoplasmic", "nuclear factor", "factor of", "of activated", "activated t", "t cells", "cytoplasmic 2", "nuclear factor of", "factor of activated", "of activated t", "activated t cells", "cells cytoplasmic", "nuclear factor of activated", "factor of activated t", "of activated t cells", "t cells cytoplasmic", "cells cytoplasmic 2", "nuclear factor of activated t", "factor of activated t cells", "activated t cells cytoplasmic", "t cells cytoplasmic 2", "nf", "atc2", "nf atc2", "atp", "nf atp", "nfat", "pre", "existing", "subunit", "nfat pre", "pre existing", "existing subunit", "nfat pre existing", "pre existing subunit", "nfat pre existing subunit", "transcription", "complex", "preexisting", "component", "nfat transcription", "transcription complex", "preexisting component", "nfat transcription complex", "complex preexisting", "transcription complex preexisting", "complex preexisting component", "nfat transcription complex preexisting", "transcription complex preexisting component", "nfatc2", "cell", "nfat1", "t cell", "cell transcription", "transcription factor", "factor nfat1", "t cell transcription", "cell transcription factor", "transcription factor nfat1", "t cell transcription factor", "cell transcription factor nfat1", "t cell transcription factor nfat1", "isoform", "2 isoform", "isoform d", "cytoplasmic 2 isoform", "2 isoform d", "cytoplasmic 2 isoform d", "cells cytoplasmic 2 isoform", "calcineurin", "dependent", "calcineurin dependent", "dependent 2", "cytoplasmic calcineurin", "calcineurin dependent 2", "cytoplasmic calcineurin dependent", "cells cytoplasmic calcineurin", "cytoplasmic calcineurin dependent 2", "cells preexisting", "t cells preexisting", "cells preexisting component", "activated t cells preexisting", "t cells preexisting component", "preexisting nuclear", "cells 2", "preexisting nuclear factor", "t cells 2", "preexisting nuclear factor of", "activated t cells 2", "preexisting nuclear factor of activated", "of activated t cells 2" ] }, { "record_id": "MONDO:0859370", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859370", "0859370", "mim:620233", "620233" ] }, { "record_id": "MONDO:0859370", "record_type": "disease", "section": "disease_name", "phraselist": [ "respiratory", "infections", "recurrent", "and", "failure", "to", "thrive", "with", "or", "without", "diarrhea", "respiratory infections", "and failure", "failure to", "to thrive", "thrive with", "with or", "or without", "without diarrhea", "infections recurrent", "recurrent and", "and failure to", "failure to thrive", "to thrive with", "thrive with or", "with or without", "or without diarrhea", "respiratory infections recurrent", "recurrent and failure", "and failure to thrive", "failure to thrive with", "to thrive with or", "thrive with or without", "with or without diarrhea", "infections recurrent and", "recurrent and failure to", "and failure to thrive with", "failure to thrive with or", "to thrive with or without", "thrive with or without diarrhea" ] }, { "record_id": "MONDO:0859370", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859370", "record_type": "disease", "section": "proteins", "phraselist": [ "o95994", "o95994 1", "agr2_human", "np_006399", "agr2", "ag", "ag 2", "ag2", "gob", "gob 4", "hag", "hag 2", "hel", "116", "hel s", "s 116", "hel s 116", "hpc8", "pdia17", "pro1030", "riftd", "xag", "xag 2" ] }, { "record_id": "MONDO:0859370", "record_type": "disease", "section": "proteins", "phraselist": [ "anterior", "gradient", "protein", "homolog", "anterior gradient", "gradient protein", "protein 2", "2 homolog", "anterior gradient protein", "gradient protein 2", "protein 2 homolog", "anterior gradient protein 2", "gradient protein 2 homolog", "anterior gradient protein 2 homolog", "ag", "ag 2", "hpc8", "secreted", "cement", "gland", "xag", "secreted cement", "cement gland", "gland protein", "protein xag", "xag 2", "secreted cement gland", "cement gland protein", "gland protein xag", "protein xag 2", "xag 2 homolog", "secreted cement gland protein", "cement gland protein xag", "gland protein xag 2", "protein xag 2 homolog", "secreted cement gland protein xag", "cement gland protein xag 2", "gland protein xag 2 homolog", "gradient homolog", "homolog 2", "anterior gradient homolog", "gradient homolog 2", "anterior gradient homolog 2", "precursor", "homolog precursor", "2 homolog precursor", "protein 2 homolog precursor", "gradient protein 2 homolog precursor", "epididymis", "secretory", "li", "116", "epididymis secretory", "secretory protein", "protein li", "li 116", "epididymis secretory protein", "secretory protein li", "protein li 116", "epididymis secretory protein li", "secretory protein li 116", "epididymis secretory protein li 116", "hag", "hag 2", "disulfide", "isomerase", "family", "member", "17", "protein disulfide", "disulfide isomerase", "isomerase family", "family a", "member 17", "protein disulfide isomerase", "disulfide isomerase family", "isomerase family a", "a member", "protein disulfide isomerase family", "disulfide isomerase family a", "family a member", "a member 17", "protein disulfide isomerase family a", "isomerase family a member", "family a member 17", "gland homolog", "cement gland homolog", "secreted cement gland homolog" ] }, { "record_id": "MONDO:0859371", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859371", "0859371", "mim:620235", "620235" ] }, { "record_id": "MONDO:0859371", "record_type": "disease", "section": "disease_name", "phraselist": [ "rhabdomyolysis", "susceptibility", "to", "susceptibility to", "rhabdomyolysis susceptibility", "to 1", "rhabdomyolysis susceptibility to", "susceptibility to 1", "rhabdomyolysis 1" ] }, { "record_id": "MONDO:0859371", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859371", "record_type": "disease", "section": "proteins", "phraselist": [ "q5vst9", "q5vst9 1", "obscn_human", "np_001373054", "glycoprotein", "obscn", "arhgef30", "kiaa1556", "kiaa1639", "rhabdo1", "unc89" ] }, { "record_id": "MONDO:0859371", "record_type": "disease", "section": "proteins", "phraselist": [ "obscurin", "2.7.11.1", "mlck", "obscurin mlck", "rhogef", "obscurin rhogef", "myosin", "light", "chain", "kinase", "obscurin myosin", "myosin light", "light chain", "chain kinase", "obscurin myosin light", "myosin light chain", "light chain kinase", "obscurin myosin light chain", "myosin light chain kinase", "obscurin myosin light chain kinase", "isoform", "obscurin isoform", "isoform c", "obscurin isoform c" ] }, { "record_id": "MONDO:0859372", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859372", "0859372", "mim:620236", "620236" ] }, { "record_id": "MONDO:0859372", "record_type": "disease", "section": "disease_name", "phraselist": [ "cardiomyopathy", "familial", "hypertrophic", "29", "with", "polyglucosan", "bodies", "familial hypertrophic", "with polyglucosan", "polyglucosan bodies", "cardiomyopathy familial", "hypertrophic 29", "29 with", "with polyglucosan bodies", "cardiomyopathy familial hypertrophic", "familial hypertrophic 29", "29 with polyglucosan", "hypertrophic 29 with", "29 with polyglucosan bodies" ] }, { "record_id": "MONDO:0859372", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859372", "record_type": "disease", "section": "proteins", "phraselist": [ "q6tfl4", "q6tfl4 1", "klh24_human", "np_060114", "glycoprotein", "klhl24", "cmh29", "dre1", "ebs6", "ebssh", "krip6" ] }, { "record_id": "MONDO:0859372", "record_type": "disease", "section": "proteins", "phraselist": [ "kelch", "like", "protein", "24", "kelch like", "like protein", "protein 24", "kelch like protein", "like protein 24", "kelch like protein 24", "krip6", "kainate", "receptor", "interacting", "for", "glur6", "kainate receptor", "receptor interacting", "interacting protein", "protein for", "for glur6", "kainate receptor interacting", "receptor interacting protein", "interacting protein for", "protein for glur6", "kainate receptor interacting protein", "receptor interacting protein for", "interacting protein for glur6", "kainate receptor interacting protein for", "receptor interacting protein for glur6", "dre1", "protein dre1", "like 24", "kelch like 24", "isoform", "24 isoform", "isoform b", "protein 24 isoform", "24 isoform b", "like protein 24 isoform", "protein 24 isoform b", "kelch like protein 24 isoform", "like protein 24 isoform b" ] }, { "record_id": "MONDO:0859373", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859373", "0859373", "mim:620237", "620237" ] }, { "record_id": "MONDO:0859373", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "autosomal", "recessive", "78", "intellectual developmental", "developmental disorder", "autosomal recessive", "recessive 78", "intellectual developmental disorder", "disorder autosomal", "autosomal recessive 78", "developmental disorder autosomal", "disorder autosomal recessive", "intellectual developmental disorder autosomal", "developmental disorder autosomal recessive", "disorder autosomal recessive 78" ] }, { "record_id": "MONDO:0859373", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859373", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bzh6", "q9bzh6 1", "wdr11_human", "np_060587", "glycoprotein", "wdr11", "brwd2", "dr11", "hh14", "kiaa1351", "sri1", "wdr15" ] }, { "record_id": "MONDO:0859373", "record_type": "disease", "section": "proteins", "phraselist": [ "wd", "repeat", "containing", "protein", "11", "wd repeat", "repeat containing", "containing protein", "protein 11", "wd repeat containing", "repeat containing protein", "containing protein 11", "wd repeat containing protein", "repeat containing protein 11", "wd repeat containing protein 11", "bromodomain", "and", "bromodomain and", "and wd", "protein 2", "bromodomain and wd", "and wd repeat", "containing protein 2", "bromodomain and wd repeat", "and wd repeat containing", "repeat containing protein 2", "bromodomain and wd repeat containing", "and wd repeat containing protein", "wd repeat containing protein 2", "domain", "15", "repeat domain", "domain 15", "wd repeat domain", "repeat domain 15", "wd repeat domain 15", "protein 15", "containing protein 15", "repeat containing protein 15", "wd repeat containing protein 15", "sensitization", "to", "ricin", "complex", "subunit", "sensitization to", "to ricin", "ricin complex", "complex subunit", "subunit 1", "sensitization to ricin", "to ricin complex", "ricin complex subunit", "complex subunit 1", "sensitization to ricin complex", "to ricin complex subunit", "ricin complex subunit 1", "sensitization to ricin complex subunit", "to ricin complex subunit 1" ] }, { "record_id": "MONDO:0859375", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859375", "0859375", "mim:620240", "620240" ] }, { "record_id": "MONDO:0859375", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "delay", "with", "hypotonia", "myopathy", "and", "brain", "abnormalities", "developmental delay", "delay with", "with hypotonia", "and brain", "brain abnormalities", "developmental delay with", "delay with hypotonia", "hypotonia myopathy", "myopathy and", "and brain abnormalities", "developmental delay with hypotonia", "with hypotonia myopathy", "myopathy and brain", "delay with hypotonia myopathy", "hypotonia myopathy and", "myopathy and brain abnormalities" ] }, { "record_id": "MONDO:0859375", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859375", "record_type": "disease", "section": "proteins", "phraselist": [ "q08379", "q08379 1", "goga2_human", "glycoprotein", "golga2" ] }, { "record_id": "MONDO:0859375", "record_type": "disease", "section": "proteins", "phraselist": [ "golgin", "subfamily", "member", "golgin subfamily", "subfamily a", "a member", "member 2", "golgin subfamily a", "subfamily a member", "a member 2", "golgin subfamily a member", "subfamily a member 2", "golgin subfamily a member 2", "130", "kda", "cis", "golgi", "matrix", "protein", "130 kda", "kda cis", "cis golgi", "golgi matrix", "matrix protein", "130 kda cis", "kda cis golgi", "cis golgi matrix", "golgi matrix protein", "130 kda cis golgi", "kda cis golgi matrix", "cis golgi matrix protein", "130 kda cis golgi matrix", "kda cis golgi matrix protein", "gm130", "autoantigen", "gm130 autoantigen", "95", "golgin 95" ] }, { "record_id": "MONDO:0859376", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859376", "0859376", "mim:620241", "620241" ] }, { "record_id": "MONDO:0859376", "record_type": "disease", "section": "disease_name", "phraselist": [ "hydrocephalus", "congenital", "susceptibility", "to", "susceptibility to", "hydrocephalus congenital", "congenital 5", "5 susceptibility", "5 susceptibility to", "hydrocephalus congenital 5", "congenital 5 susceptibility" ] }, { "record_id": "MONDO:0859376", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859376", "record_type": "disease", "section": "proteins", "phraselist": [ "q92922", "q92922 1", "smrc1_human", "np_003065", "glycoprotein", "smarcc1", "baf155", "cracc1", "hyc5", "rsc8", "srg3", "swi3" ] }, { "record_id": "MONDO:0859376", "record_type": "disease", "section": "proteins", "phraselist": [ "swi/snf", "complex", "subunit", "smarcc1", "swi/snf complex", "complex subunit", "subunit smarcc1", "swi/snf complex subunit", "complex subunit smarcc1", "swi/snf complex subunit smarcc1", "baf155", "brg1", "associated", "factor", "155", "brg1 associated", "associated factor", "factor 155", "brg1 associated factor", "associated factor 155", "brg1 associated factor 155", "kda", "complex 155", "155 kda", "kda subunit", "swi/snf complex 155", "complex 155 kda", "155 kda subunit", "swi/snf complex 155 kda", "complex 155 kda subunit", "swi/snf complex 155 kda subunit", "related", "matrix", "actin", "dependent", "regulator", "of", "chromatin", "subfamily", "member", "swi/snf related", "matrix associated", "actin dependent", "dependent regulator", "regulator of", "of chromatin", "chromatin subfamily", "subfamily c", "c member", "member 1", "related matrix", "associated actin", "actin dependent regulator", "dependent regulator of", "regulator of chromatin", "of chromatin subfamily", "chromatin subfamily c", "subfamily c member", "c member 1", "swi/snf related matrix", "related matrix associated", "matrix associated actin", "associated actin dependent", "actin dependent regulator of", "dependent regulator of chromatin", "regulator of chromatin subfamily", "of chromatin subfamily c", "chromatin subfamily c member", "subfamily c member 1", "swi/snf related matrix associated", "matrix associated actin dependent", "associated actin dependent regulator", "actin dependent regulator of chromatin", "dependent regulator of chromatin subfamily", "regulator of chromatin subfamily c", "of chromatin subfamily c member", "chromatin subfamily c member 1", "related matrix associated actin", "swi/snf related matrix associated actin", "related matrix associated actin dependent", "matrix associated actin dependent regulator", "associated actin dependent regulator of", "remodeling", "chromatin remodeling", "remodeling complex", "complex baf155", "baf155 subunit", "chromatin remodeling complex", "remodeling complex baf155", "complex baf155 subunit", "chromatin remodeling complex baf155", "remodeling complex baf155 subunit", "chromatin remodeling complex baf155 subunit", "mammalian", "mammalian chromatin", "complex brg1", "mammalian chromatin remodeling", "remodeling complex brg1", "complex brg1 associated", "mammalian chromatin remodeling complex", "chromatin remodeling complex brg1", "remodeling complex brg1 associated", "complex brg1 associated factor", "mammalian chromatin remodeling complex brg1", "chromatin remodeling complex brg1 associated", "remodeling complex brg1 associated factor", "complex brg1 associated factor 155" ] }, { "record_id": "MONDO:0859379", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859379", "0859379", "mim:620244", "620244" ] }, { "record_id": "MONDO:0859379", "record_type": "disease", "section": "disease_name", "phraselist": [ "lymphatic", "malformation", "13", "lymphatic malformation", "malformation 13", "lymphatic malformation 13" ] }, { "record_id": "MONDO:0859379", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859379", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ns62", "q9ns62 1", "thsd1_human", "np_061146", "glycoprotein", "thsd1", "anib12", "lmphm13", "pro9769", "tmtsp", "unq3010" ] }, { "record_id": "MONDO:0859379", "record_type": "disease", "section": "proteins", "phraselist": [ "thrombospondin", "type", "domain", "containing", "protein", "thrombospondin type", "type 1", "1 domain", "domain containing", "containing protein", "protein 1", "thrombospondin type 1", "type 1 domain", "1 domain containing", "domain containing protein", "containing protein 1", "thrombospondin type 1 domain", "type 1 domain containing", "1 domain containing protein", "domain containing protein 1", "thrombospondin type 1 domain containing", "type 1 domain containing protein", "1 domain containing protein 1", "4833423o18rik", "transmembrane", "molecule", "with", "module", "transmembrane molecule", "molecule with", "with thrombospondin", "thrombospondin module", "transmembrane molecule with", "molecule with thrombospondin", "with thrombospondin module", "transmembrane molecule with thrombospondin", "molecule with thrombospondin module", "transmembrane molecule with thrombospondin module", "isoform", "precursor", "1 isoform", "isoform 1", "1 precursor", "protein 1 isoform", "1 isoform 1", "isoform 1 precursor", "containing protein 1 isoform", "protein 1 isoform 1", "1 isoform 1 precursor", "domain containing protein 1 isoform", "containing protein 1 isoform 1", "protein 1 isoform 1 precursor", "type i", "containing 1", "i domain", "domain containing 1", "thrombospondin type i", "type i domain", "i domain containing", "type i domain containing", "i domain containing 1" ] }, { "record_id": "MONDO:0859381", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859381", "0859381", "mim:620247", "620247" ] }, { "record_id": "MONDO:0859381", "record_type": "disease", "section": "disease_name", "phraselist": [ "cardiomyopathy", "dilated", "100", "cardiomyopathy dilated", "dilated 100", "cardiomyopathy dilated 100", "1oo", "dilated 1oo", "cardiomyopathy dilated 1oo" ] }, { "record_id": "MONDO:0859381", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859381", "record_type": "disease", "section": "proteins", "phraselist": [ "q14119", "q14119 1", "vezf1_human", "np_009077", "glycoprotein", "vezf1", "cmd1oo", "db1", "znf161" ] }, { "record_id": "MONDO:0859381", "record_type": "disease", "section": "proteins", "phraselist": [ "vascular", "endothelial", "zinc", "finger", "vascular endothelial", "endothelial zinc", "zinc finger", "finger 1", "vascular endothelial zinc", "endothelial zinc finger", "zinc finger 1", "vascular endothelial zinc finger", "endothelial zinc finger 1", "vascular endothelial zinc finger 1", "putative", "transcription", "factor", "db1", "putative transcription", "transcription factor", "factor db1", "putative transcription factor", "transcription factor db1", "putative transcription factor db1", "protein", "161", "finger protein", "protein 161", "zinc finger protein", "finger protein 161", "zinc finger protein 161", "isoform", "1 isoform", "isoform 1", "finger 1 isoform", "1 isoform 1", "zinc finger 1 isoform", "finger 1 isoform 1", "endothelial zinc finger 1 isoform", "zinc finger 1 isoform 1" ] }, { "record_id": "MONDO:0859382", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859382", "0859382", "mim:620253", "620253" ] }, { "record_id": "MONDO:0859382", "record_type": "disease", "section": "disease_name", "phraselist": [ "cataract", "50", "with", "or", "without", "glaucoma", "cataract 50", "50 with", "with or", "or without", "without glaucoma", "cataract 50 with", "50 with or", "with or without", "or without glaucoma", "cataract 50 with or", "50 with or without", "with or without glaucoma", "cataract 50 with or without", "50 with or without glaucoma" ] }, { "record_id": "MONDO:0859382", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859382", "record_type": "disease", "section": "proteins", "phraselist": [ "q9hcf6", "q9hcf6 1", "trpm3_human", "np_001007472", "glycoprotein", "trpm3", "ctrct50", "gon", "gon 2", "kiaa1616", "ltrpc3", "mlsn2", "nedfss" ] }, { "record_id": "MONDO:0859382", "record_type": "disease", "section": "proteins", "phraselist": [ "transient", "receptor", "potential", "cation", "channel", "subfamily", "member", "transient receptor", "receptor potential", "potential cation", "cation channel", "channel subfamily", "subfamily m", "m member", "member 3", "transient receptor potential", "receptor potential cation", "potential cation channel", "cation channel subfamily", "channel subfamily m", "subfamily m member", "m member 3", "transient receptor potential cation", "receptor potential cation channel", "potential cation channel subfamily", "cation channel subfamily m", "channel subfamily m member", "subfamily m member 3", "transient receptor potential cation channel", "receptor potential cation channel subfamily", "potential cation channel subfamily m", "cation channel subfamily m member", "channel subfamily m member 3", "ltrpc", "ltrpc 3", "ltrpc3", "long", "long transient", "potential channel", "channel 3", "long transient receptor", "receptor potential channel", "potential channel 3", "long transient receptor potential", "transient receptor potential channel", "receptor potential channel 3", "long transient receptor potential channel", "transient receptor potential channel 3", "mlsn2", "melastatin", "melastatin 2", "isoform", "3 isoform", "isoform k", "member 3 isoform", "3 isoform k", "m member 3 isoform", "member 3 isoform k", "subfamily m member 3 isoform", "m member 3 isoform k" ] }, { "record_id": "MONDO:0859516", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859516", "0859516", "mim:620250", "620250" ] }, { "record_id": "MONDO:0859516", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "seizures", "spasticity", "and", "complete", "or", "partial", "agenesis", "of", "the", "corpus", "callosum", "neurodevelopmental disorder", "disorder with", "with seizures", "and complete", "complete or", "or partial", "partial agenesis", "agenesis of", "of the", "the corpus", "corpus callosum", "neurodevelopmental disorder with", "disorder with seizures", "seizures spasticity", "spasticity and", "and complete or", "complete or partial", "or partial agenesis", "partial agenesis of", "agenesis of the", "of the corpus", "the corpus callosum", "neurodevelopmental disorder with seizures", "with seizures spasticity", "spasticity and complete", "and complete or partial", "complete or partial agenesis", "or partial agenesis of", "partial agenesis of the", "agenesis of the corpus", "of the corpus callosum", "disorder with seizures spasticity", "seizures spasticity and", "spasticity and complete or", "and complete or partial agenesis", "complete or partial agenesis of", "or partial agenesis of the", "partial agenesis of the corpus", "agenesis of the corpus callosum" ] }, { "record_id": "MONDO:0859516", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859516", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y4d8", "q9y4d8 1", "hecd4_human", "glycoprotein", "hectd4", "c12orf51", "kiaa0614" ] }, { "record_id": "MONDO:0859516", "record_type": "disease", "section": "proteins", "phraselist": [ "probable", "e3", "ubiquitin", "protein", "ligase", "hectd4", "probable e3", "e3 ubiquitin", "ubiquitin protein", "protein ligase", "ligase hectd4", "probable e3 ubiquitin", "e3 ubiquitin protein", "ubiquitin protein ligase", "protein ligase hectd4", "probable e3 ubiquitin protein", "e3 ubiquitin protein ligase", "ubiquitin protein ligase hectd4", "probable e3 ubiquitin protein ligase", "e3 ubiquitin protein ligase hectd4", "2.3.2.26", "hect", "domain", "containing", "hect domain", "domain containing", "containing protein", "protein 4", "hect domain containing", "domain containing protein", "containing protein 4", "hect domain containing protein", "domain containing protein 4", "hect domain containing protein 4", "type", "transferase", "hect type", "type e3", "ubiquitin transferase", "transferase hectd4", "hect type e3", "type e3 ubiquitin", "e3 ubiquitin transferase", "ubiquitin transferase hectd4", "hect type e3 ubiquitin", "type e3 ubiquitin transferase", "e3 ubiquitin transferase hectd4", "hect type e3 ubiquitin transferase", "type e3 ubiquitin transferase hectd4" ] }, { "record_id": "MONDO:0859519", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859519", "0859519", "mim:620270", "620270" ] }, { "record_id": "MONDO:0859519", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "absent", "speech", "and", "movement", "behavioral", "abnormalities", "neurodevelopmental disorder", "disorder with", "with absent", "absent speech", "speech and", "and movement", "movement and", "and behavioral", "behavioral abnormalities", "neurodevelopmental disorder with", "disorder with absent", "with absent speech", "absent speech and", "speech and movement", "and movement and", "movement and behavioral", "and behavioral abnormalities", "neurodevelopmental disorder with absent", "disorder with absent speech", "with absent speech and", "absent speech and movement", "speech and movement and", "and movement and behavioral", "movement and behavioral abnormalities", "neurodevelopmental disorder with absent speech", "disorder with absent speech and", "with absent speech and movement", "absent speech and movement and", "speech and movement and behavioral", "and movement and behavioral abnormalities" ] }, { "record_id": "MONDO:0859519", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859519", "record_type": "disease", "section": "proteins", "phraselist": [ "q15386", "q15386 1", "ube3c_human", "np_055486", "glycoprotein", "ube3c", "hecth2", "kiaa0010", "kiaa10", "ndsmba", "nedsmba", "raul" ] }, { "record_id": "MONDO:0859519", "record_type": "disease", "section": "proteins", "phraselist": [ "ubiquitin", "protein", "ligase", "e3c", "ubiquitin protein", "protein ligase", "ligase e3c", "ubiquitin protein ligase", "protein ligase e3c", "ubiquitin protein ligase e3c", "2.3.2.26", "hect", "type", "transferase", "hect type", "type ubiquitin", "ubiquitin transferase", "transferase e3c", "hect type ubiquitin", "type ubiquitin transferase", "ubiquitin transferase e3c", "hect type ubiquitin transferase", "type ubiquitin transferase e3c", "hect type ubiquitin transferase e3c", "hecth2", "homologous", "to", "e6ap", "carboxyl", "terminus", "homologous to", "to e6ap", "e6ap carboxyl", "carboxyl terminus", "terminus homologous", "homologous protein", "protein 2", "homologous to e6ap", "to e6ap carboxyl", "e6ap carboxyl terminus", "carboxyl terminus homologous", "terminus homologous protein", "homologous protein 2", "homologous to e6ap carboxyl", "to e6ap carboxyl terminus", "e6ap carboxyl terminus homologous", "carboxyl terminus homologous protein", "terminus homologous protein 2", "homologous to e6ap carboxyl terminus", "to e6ap carboxyl terminus homologous", "e6ap carboxyl terminus homologous protein", "carboxyl terminus homologous protein 2", "raul", "rta", "associated", "rta associated", "associated ubiquitin", "ubiquitin ligase", "rta associated ubiquitin", "associated ubiquitin ligase", "rta associated ubiquitin ligase", "isopeptide", "e3", "protein isopeptide", "isopeptide ligase", "ubiquitin protein isopeptide", "protein isopeptide ligase", "ligase e3", "ubiquitin protein isopeptide ligase", "isopeptide ligase e3", "protein isopeptide ligase e3" ] }, { "record_id": "MONDO:0859521", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859521", "0859521", "mim:620276", "620276" ] }, { "record_id": "MONDO:0859521", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte", "maturation", "defect", "14", "oocyte maturation", "maturation defect", "defect 14", "oocyte maturation defect", "maturation defect 14", "oocyte maturation defect 14", "oocyte/zygote/embryo", "arrest", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 14", "oocyte/zygote/embryo maturation arrest", "maturation arrest 14", "oocyte/zygote/embryo maturation arrest 14" ] }, { "record_id": "MONDO:0859521", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859521", "record_type": "disease", "section": "proteins", "phraselist": [ "q12834", "q12834 1", "cdc20_human", "np_001246", "glycoprotein", "cdc20", "cdc20a", "oomd14", "ozema14", "ba276h19.3", "p55cdc" ] }, { "record_id": "MONDO:0859521", "record_type": "disease", "section": "proteins", "phraselist": [ "cell", "division", "cycle", "protein", "20", "homolog", "cell division", "division cycle", "cycle protein", "protein 20", "20 homolog", "cell division cycle", "division cycle protein", "cycle protein 20", "protein 20 homolog", "cell division cycle protein", "division cycle protein 20", "cycle protein 20 homolog", "cell division cycle protein 20", "division cycle protein 20 homolog", "cdc20", "cdc20 cell", "cycle 20", "cdc20 cell division", "division cycle 20", "cycle 20 homolog", "cdc20 cell division cycle", "cell division cycle 20", "division cycle 20 homolog", "cdc20 cell division cycle 20", "cell division cycle 20 homolog", "fizzy", "fizzy homolog", "p55cdc" ] }, { "record_id": "MONDO:0859530", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859530", "0859530", "mim:620286", "620286" ] }, { "record_id": "MONDO:0859530", "record_type": "disease", "section": "disease_name", "phraselist": [ "myopathy", "sarcoplasmic", "body", "sarcoplasmic body", "myopathy sarcoplasmic", "myopathy sarcoplasmic body" ] }, { "record_id": "MONDO:0859530", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859530", "record_type": "disease", "section": "proteins", "phraselist": [ "p02144", "p02144 1", "myg_human", "np_005359", "mb", "myosb", "pvalb" ] }, { "record_id": "MONDO:0859530", "record_type": "disease", "section": "proteins", "phraselist": [ "myoglobin", "1.11.1.", "1.7.", "1.7. .", "nitrite", "reductase", "mb", "nitrite reductase", "reductase mb", "nitrite reductase mb", "pseudoperoxidase", "pseudoperoxidase mb", "isoform", "myoglobin isoform", "isoform 1", "myoglobin isoform 1" ] }, { "record_id": "MONDO:0859531", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859531", "0859531", "mim:620292", "620292" ] }, { "record_id": "MONDO:0859531", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "language", "delay", "and", "behavioral", "abnormalities", "or", "without", "seizures", "neurodevelopmental disorder", "disorder with", "with language", "language delay", "delay and", "and behavioral", "behavioral abnormalities", "with or", "or without", "without seizures", "neurodevelopmental disorder with", "disorder with language", "with language delay", "language delay and", "delay and behavioral", "and behavioral abnormalities", "abnormalities with", "with or without", "or without seizures", "neurodevelopmental disorder with language", "disorder with language delay", "with language delay and", "language delay and behavioral", "delay and behavioral abnormalities", "behavioral abnormalities with", "abnormalities with or", "with or without seizures", "neurodevelopmental disorder with language delay", "disorder with language delay and", "with language delay and behavioral", "language delay and behavioral abnormalities", "and behavioral abnormalities with", "behavioral abnormalities with or", "abnormalities with or without" ] }, { "record_id": "MONDO:0859531", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859531", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ul18", "q9ul18 1", "ago1_human", "np_001304051", "glycoprotein", "ago1", "eif2c1", "eif2c", "gerp95", "nedlbas", "q99", "hago1" ] }, { "record_id": "MONDO:0859531", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "argonaute", "protein argonaute", "argonaute 1", "protein argonaute 1", "risc", "catalytic", "component", "argonaute risc", "risc catalytic", "catalytic component", "component 1", "argonaute risc catalytic", "risc catalytic component", "catalytic component 1", "argonaute risc catalytic component", "risc catalytic component 1", "argonaute risc catalytic component 1", "argonaute1", "eukaryotic", "translation", "initiation", "factor", "2c", "eukaryotic translation", "translation initiation", "initiation factor", "factor 2c", "2c 1", "eukaryotic translation initiation", "translation initiation factor", "initiation factor 2c", "factor 2c 1", "eukaryotic translation initiation factor", "translation initiation factor 2c", "initiation factor 2c 1", "eukaryotic translation initiation factor 2c", "translation initiation factor 2c 1", "golgi", "endoplasmic", "reticulum", "95", "kda", "golgi endoplasmic", "endoplasmic reticulum", "reticulum protein", "protein 95", "95 kda", "golgi endoplasmic reticulum", "endoplasmic reticulum protein", "reticulum protein 95", "protein 95 kda", "golgi endoplasmic reticulum protein", "endoplasmic reticulum protein 95", "reticulum protein 95 kda", "golgi endoplasmic reticulum protein 95", "endoplasmic reticulum protein 95 kda", "putative", "rna", "binding", "q99", "putative rna", "rna binding", "binding protein", "protein q99", "putative rna binding", "rna binding protein", "binding protein q99", "putative rna binding protein", "rna binding protein q99", "putative rna binding protein q99", "1 risc", "argonaute 1 risc", "1 risc catalytic", "argonaute 1 risc catalytic", "1 risc catalytic component", "eif", "eif 2c", "eif 2c 1", "eif2c", "eif2c 1", "hago1", "isoform", "1x", "1 isoform", "isoform 1x", "argonaute 1 isoform", "1 isoform 1x", "protein argonaute 1 isoform", "argonaute 1 isoform 1x", "protein argonaute 1 isoform 1x" ] }, { "record_id": "MONDO:0859532", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859532", "0859532", "mim:620294", "620294" ] }, { "record_id": "MONDO:0859532", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "heart", "defects", "multiple", "types", "congenital heart", "heart defects", "multiple types", "congenital heart defects", "defects multiple", "types 9", "heart defects multiple", "defects multiple types", "multiple types 9", "congenital heart defects multiple", "heart defects multiple types" ] }, { "record_id": "MONDO:0859532", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859532", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y4d7", "q9y4d7 1", "plxd1_human", "np_055918", "glycoprotein", "plxnd1", "chtd9", "kiaa0620", "plexd1" ] }, { "record_id": "MONDO:0859532", "record_type": "disease", "section": "proteins", "phraselist": [ "plexin", "d1", "plexin d1", "precursor", "d1 precursor", "plexin d1 precursor" ] }, { "record_id": "MONDO:0859564", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859564", "0859564", "mim:301091", "301091" ] }, { "record_id": "MONDO:0859564", "record_type": "disease", "section": "disease_name", "phraselist": [ "epilepsy", "linked", "with", "or", "without", "impaired", "intellectual", "development", "and", "dysmorphic", "features", "x linked", "linked 2", "with or", "or without", "without impaired", "impaired intellectual", "intellectual development", "development and", "and dysmorphic", "dysmorphic features", "epilepsy x", "x linked 2", "2 with", "with or without", "or without impaired", "without impaired intellectual", "impaired intellectual development", "intellectual development and", "development and dysmorphic", "and dysmorphic features", "epilepsy x linked", "linked 2 with", "2 with or", "with or without impaired", "or without impaired intellectual", "without impaired intellectual development", "impaired intellectual development and", "intellectual development and dysmorphic", "development and dysmorphic features", "epilepsy x linked 2", "x linked 2 with", "linked 2 with or", "2 with or without", "with or without impaired intellectual", "or without impaired intellectual development", "without impaired intellectual development and", "impaired intellectual development and dysmorphic", "intellectual development and dysmorphic features" ] }, { "record_id": "MONDO:0859564", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859564", "record_type": "disease", "section": "proteins", "phraselist": [ "p34903", "p34903 1", "gbra3_human", "np_000799", "glycoprotein", "gabra3", "epilx2" ] }, { "record_id": "MONDO:0859564", "record_type": "disease", "section": "proteins", "phraselist": [ "gamma", "aminobutyric", "acid", "receptor", "subunit", "alpha", "gamma aminobutyric", "aminobutyric acid", "acid receptor", "receptor subunit", "subunit alpha", "alpha 3", "gamma aminobutyric acid", "aminobutyric acid receptor", "acid receptor subunit", "receptor subunit alpha", "subunit alpha 3", "gamma aminobutyric acid receptor", "aminobutyric acid receptor subunit", "acid receptor subunit alpha", "receptor subunit alpha 3", "gamma aminobutyric acid receptor subunit", "aminobutyric acid receptor subunit alpha", "acid receptor subunit alpha 3", "gaba", "gaba a", "a receptor", "gaba a receptor", "a receptor subunit", "gaba a receptor subunit", "a receptor subunit alpha", "receptor alpha", "receptor alpha 3", "a receptor alpha", "gabaar", "gabaar subunit", "gabaar subunit alpha", "gabaar subunit alpha 3", "acid gaba", "aminobutyric acid gaba", "gamma aminobutyric acid gaba", "acid gaba a", "a receptor alpha 3", "precursor", "3 precursor", "alpha 3 precursor", "subunit alpha 3 precursor", "receptor subunit alpha 3 precursor", "type", "alpha3", "acid type", "type a", "receptor alpha3", "alpha3 subunit", "aminobutyric acid type", "acid type a", "type a receptor", "a receptor alpha3", "receptor alpha3 subunit", "gamma aminobutyric acid type", "aminobutyric acid type a", "acid type a receptor", "type a receptor alpha3", "a receptor alpha3 subunit", "gamma aminobutyric acid type a", "aminobutyric acid type a receptor", "acid type a receptor alpha3", "type a receptor alpha3 subunit", "animobutyric", "gamma animobutyric", "animobutyric acid", "gamma animobutyric acid", "animobutyric acid gaba", "gamma animobutyric acid gaba" ] }, { "record_id": "MONDO:0859570", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859570", "0859570", "mim:619981", "619981" ] }, { "record_id": "MONDO:0859570", "record_type": "disease", "section": "disease_name", "phraselist": [ "braddock", "carey", "syndrome", "braddock carey", "carey syndrome", "syndrome 2", "braddock carey syndrome", "carey syndrome 2", "braddock carey syndrome 2" ] }, { "record_id": "MONDO:0859570", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859570", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ns87", "q9ns87 1", "kif15_human", "np_064627", "glycoprotein", "kif15", "brdcs2", "hklp2", "klp2", "knsl7", "ny", "br", "62", "ny br", "br 62", "ny br 62" ] }, { "record_id": "MONDO:0859570", "record_type": "disease", "section": "proteins", "phraselist": [ "kinesin", "like", "protein", "kif15", "kinesin like", "like protein", "protein kif15", "kinesin like protein", "like protein kif15", "kinesin like protein kif15", "protein 2", "like protein 2", "kinesin like protein 2", "protein 7", "like protein 7", "kinesin like protein 7", "serologically", "defined", "breast", "cancer", "antigen", "ny", "br", "62", "serologically defined", "defined breast", "breast cancer", "cancer antigen", "antigen ny", "ny br", "br 62", "serologically defined breast", "defined breast cancer", "breast cancer antigen", "cancer antigen ny", "antigen ny br", "ny br 62", "serologically defined breast cancer", "defined breast cancer antigen", "breast cancer antigen ny", "cancer antigen ny br", "antigen ny br 62", "serologically defined breast cancer antigen", "defined breast cancer antigen ny", "breast cancer antigen ny br", "cancer antigen ny br 62", "hklp2", "like 7", "kinesin like 7" ] }, { "record_id": "MONDO:0859571", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859571", "0859571", "mim:620025", "620025" ] }, { "record_id": "MONDO:0859571", "record_type": "disease", "section": "disease_name", "phraselist": [ "diaphragmatic", "hernia", "with", "cardiovascular", "defects", "diaphragmatic hernia", "hernia 4", "with cardiovascular", "cardiovascular defects", "diaphragmatic hernia 4", "4 with", "with cardiovascular defects", "hernia 4 with", "4 with cardiovascular", "diaphragmatic hernia 4 with", "hernia 4 with cardiovascular", "4 with cardiovascular defects" ] }, { "record_id": "MONDO:0859571", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859571", "record_type": "disease", "section": "proteins", "phraselist": [ "o94788", "o94788 1", "al1a2_human", "np_001193826", "glycoprotein", "aldh1a2", "dih4", "raldh", "ii", "raldh ii", "raldh2", "raldh2 t" ] }, { "record_id": "MONDO:0859571", "record_type": "disease", "section": "proteins", "phraselist": [ "retinal", "dehydrogenase", "retinal dehydrogenase", "dehydrogenase 2", "retinal dehydrogenase 2", "1.2.1.36", "aldh1a2", "aldehyde", "family", "member", "a2", "aldehyde dehydrogenase", "dehydrogenase family", "family 1", "1 member", "member a2", "aldehyde dehydrogenase family", "dehydrogenase family 1", "family 1 member", "1 member a2", "aldehyde dehydrogenase family 1", "dehydrogenase family 1 member", "family 1 member a2", "aldehyde dehydrogenase family 1 member", "dehydrogenase family 1 member a2", "raldh", "raldh 2", "ii", "raldh ii", "raldh2", "retinaldehyde", "specific", "type", "retinaldehyde specific", "specific dehydrogenase", "dehydrogenase type", "type 2", "retinaldehyde specific dehydrogenase", "specific dehydrogenase type", "dehydrogenase type 2", "retinaldehyde specific dehydrogenase type", "specific dehydrogenase type 2", "retinaldehyde specific dehydrogenase type 2", "isoform", "2 isoform", "isoform 4", "dehydrogenase 2 isoform", "2 isoform 4", "retinal dehydrogenase 2 isoform", "dehydrogenase 2 isoform 4", "retinal dehydrogenase 2 isoform 4" ] }, { "record_id": "MONDO:0859572", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859572", "0859572", "mim:620067", "620067" ] }, { "record_id": "MONDO:0859572", "record_type": "disease", "section": "disease_name", "phraselist": [ "cardiac", "valvular", "dysplasia", "cardiac valvular", "valvular dysplasia", "dysplasia 2", "cardiac valvular dysplasia", "valvular dysplasia 2", "cardiac valvular dysplasia 2" ] }, { "record_id": "MONDO:0859572", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859572", "record_type": "disease", "section": "proteins", "phraselist": [ "q8te59", "q8te59 1", "ats19_human", "np_598377", "glycoprotein", "adamts19", "cvdp2" ] }, { "record_id": "MONDO:0859572", "record_type": "disease", "section": "proteins", "phraselist": [ "disintegrin", "and", "metalloproteinase", "with", "thrombospondin", "motifs", "19", "a disintegrin", "disintegrin and", "and metalloproteinase", "metalloproteinase with", "with thrombospondin", "thrombospondin motifs", "motifs 19", "a disintegrin and", "disintegrin and metalloproteinase", "and metalloproteinase with", "metalloproteinase with thrombospondin", "with thrombospondin motifs", "thrombospondin motifs 19", "a disintegrin and metalloproteinase", "disintegrin and metalloproteinase with", "and metalloproteinase with thrombospondin", "metalloproteinase with thrombospondin motifs", "with thrombospondin motifs 19", "a disintegrin and metalloproteinase with", "disintegrin and metalloproteinase with thrombospondin", "and metalloproteinase with thrombospondin motifs", "metalloproteinase with thrombospondin motifs 19", "3.4.24.", "adam", "ts", "adam ts", "ts 19", "adam ts 19", "ts19", "adam ts19", "adamts", "adamts 19", "like", "metalloprotease", "reprolysin", "type", "motif", "disintegrin like", "like and", "and metalloprotease", "reprolysin type", "thrombospondin type", "type 1", "1 motif", "a disintegrin like", "disintegrin like and", "like and metalloprotease", "metalloprotease reprolysin", "type with", "with thrombospondin type", "thrombospondin type 1", "type 1 motif", "motif 19", "a disintegrin like and", "disintegrin like and metalloprotease", "and metalloprotease reprolysin", "metalloprotease reprolysin type", "reprolysin type with", "type with thrombospondin", "with thrombospondin type 1", "thrombospondin type 1 motif", "1 motif 19", "a disintegrin like and metalloprotease", "like and metalloprotease reprolysin", "and metalloprotease reprolysin type", "reprolysin type with thrombospondin", "type with thrombospondin type", "with thrombospondin type 1 motif", "type 1 motif 19" ] }, { "record_id": "MONDO:0859574", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859574", "0859574", "mim:620148", "620148" ] }, { "record_id": "MONDO:0859574", "record_type": "disease", "section": "disease_name", "phraselist": [ "ichthyosis", "annular", "epidermolytic", "annular epidermolytic", "ichthyosis annular", "epidermolytic 2", "ichthyosis annular epidermolytic", "annular epidermolytic 2" ] }, { "record_id": "MONDO:0859574", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859574", "record_type": "disease", "section": "proteins", "phraselist": [ "p04264", "p04264 1", "k2c1_human", "np_006112", "glycoprotein", "krt1", "aei2", "ck1", "ehk1", "ehk", "eppk", "k1", "krt1a", "krta", "neppk" ] }, { "record_id": "MONDO:0859574", "record_type": "disease", "section": "proteins", "phraselist": [ "keratin", "type", "ii", "cytoskeletal", "type ii", "ii cytoskeletal", "cytoskeletal 1", "keratin type", "type ii cytoskeletal", "ii cytoskeletal 1", "keratin type ii", "type ii cytoskeletal 1", "keratin type ii cytoskeletal", "67", "kda", "cytokeratin", "67 kda", "kda cytokeratin", "67 kda cytokeratin", "ck", "ck 1", "cytokeratin 1", "hair", "alpha", "protein", "hair alpha", "alpha protein", "hair alpha protein", "k1", "keratin 1", "kb1", "ii keratin", "keratin kb1", "type ii keratin", "ii keratin kb1", "type ii keratin kb1", "epidermolytic", "hyperkeratosis", "epidermolytic hyperkeratosis", "hyperkeratosis 1", "epidermolytic hyperkeratosis 1", "1 type", "keratin 1 type", "1 type ii", "keratin 1 type ii" ] }, { "record_id": "MONDO:0859575", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859575", "0859575", "mim:620184", "620184" ] }, { "record_id": "MONDO:0859575", "record_type": "disease", "section": "disease_name", "phraselist": [ "atelis", "syndrome", "atelis syndrome", "syndrome 1", "atelis syndrome 1" ] }, { "record_id": "MONDO:0859575", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859575", "record_type": "disease", "section": "proteins", "phraselist": [ "q8ix21", "q8ix21 1", "slf2_human", "np_001129595", "glycoprotein", "slf2", "atels1", "c10orf6", "fam178a", "hnse6" ] }, { "record_id": "MONDO:0859575", "record_type": "disease", "section": "proteins", "phraselist": [ "smc5", "smc6", "complex", "localization", "factor", "protein", "smc5 smc6", "smc6 complex", "complex localization", "localization factor", "factor protein", "protein 2", "smc5 smc6 complex", "smc6 complex localization", "complex localization factor", "localization factor protein", "factor protein 2", "smc5 smc6 complex localization", "smc6 complex localization factor", "complex localization factor protein", "localization factor protein 2", "smc5 smc6 complex localization factor", "smc6 complex localization factor protein", "complex localization factor protein 2", "factor 2", "localization factor 2", "complex localization factor 2", "smc6 complex localization factor 2", "isoform", "2 isoform", "isoform 2", "protein 2 isoform", "2 isoform 2", "factor protein 2 isoform", "protein 2 isoform 2", "localization factor protein 2 isoform", "factor protein 2 isoform 2", "smc5/6", "smc5/6 localization", "factor 1", "smc5/6 localization factor", "localization factor 1", "smc5/6 localization factor 1", "family", "with", "sequence", "similarity", "178", "member", "family with", "with sequence", "sequence similarity", "similarity 178", "member a", "family with sequence", "with sequence similarity", "sequence similarity 178", "178 member", "family with sequence similarity", "with sequence similarity 178", "similarity 178 member", "178 member a", "family with sequence similarity 178", "sequence similarity 178 member", "similarity 178 member a", "fam178a", "protein fam178a" ] }, { "record_id": "MONDO:0859576", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0859576", "0859576", "mim:620185", "620185" ] }, { "record_id": "MONDO:0859576", "record_type": "disease", "section": "disease_name", "phraselist": [ "atelis", "syndrome", "atelis syndrome", "syndrome 2", "atelis syndrome 2" ] }, { "record_id": "MONDO:0859576", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0859576", "record_type": "disease", "section": "proteins", "phraselist": [ "q8iy18", "q8iy18 1", "smc5_human", "np_055925", "glycoprotein", "smc5", "atels2", "kiaa0594", "smc5l1" ] }, { "record_id": "MONDO:0859576", "record_type": "disease", "section": "proteins", "phraselist": [ "structural", "maintenance", "of", "chromosomes", "protein", "structural maintenance", "maintenance of", "of chromosomes", "chromosomes protein", "protein 5", "structural maintenance of", "maintenance of chromosomes", "of chromosomes protein", "chromosomes protein 5", "structural maintenance of chromosomes", "maintenance of chromosomes protein", "of chromosomes protein 5", "structural maintenance of chromosomes protein", "maintenance of chromosomes protein 5", "smc", "smc protein", "smc protein 5", "smc 5", "smc5", "like", "smc5 structural", "chromosomes 5", "5 like", "like 1", "smc5 structural maintenance", "of chromosomes 5", "chromosomes 5 like", "5 like 1", "smc5 structural maintenance of", "maintenance of chromosomes 5", "of chromosomes 5 like", "chromosomes 5 like 1", "smc5 structural maintenance of chromosomes", "structural maintenance of chromosomes 5", "maintenance of chromosomes 5 like", "of chromosomes 5 like 1", "hsmc5" ] }, { "record_id": "MONDO:0957204", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957204", "0957204", "mim:620296", "620296" ] }, { "record_id": "MONDO:0957204", "record_type": "disease", "section": "disease_name", "phraselist": [ "autoinflammation", "with", "pulmonary", "and", "cutaneous", "vasculitis", "autoinflammation with", "with pulmonary", "pulmonary and", "and cutaneous", "cutaneous vasculitis", "autoinflammation with pulmonary", "with pulmonary and", "pulmonary and cutaneous", "and cutaneous vasculitis", "autoinflammation with pulmonary and", "with pulmonary and cutaneous", "pulmonary and cutaneous vasculitis", "autoinflammation with pulmonary and cutaneous", "with pulmonary and cutaneous vasculitis" ] }, { "record_id": "MONDO:0957204", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957204", "record_type": "disease", "section": "proteins", "phraselist": [ "p08631", "p08631 1", "hck_human", "np_001165600", "glycoprotein", "hck", "aipcv", "jtk9", "p59hck", "p61hck" ] }, { "record_id": "MONDO:0957204", "record_type": "disease", "section": "proteins", "phraselist": [ "tyrosine", "protein", "kinase", "hck", "tyrosine protein", "protein kinase", "kinase hck", "tyrosine protein kinase", "protein kinase hck", "tyrosine protein kinase hck", "2.7.10.2", "hematopoietic", "cell", "hematopoietic cell", "cell kinase", "hematopoietic cell kinase", "hemopoietic", "hemopoietic cell", "hemopoietic cell kinase", "p59", "hck/p60", "p59 hck/p60", "hck/p60 hck", "p59 hck/p60 hck", "p59hck", "p61hck", "isoform", "hck isoform", "isoform b", "kinase hck isoform", "hck isoform b", "protein kinase hck isoform", "kinase hck isoform b", "tyrosine protein kinase hck isoform", "protein kinase hck isoform b" ] }, { "record_id": "MONDO:0957210", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957210", "0957210", "mim:620305", "620305" ] }, { "record_id": "MONDO:0957210", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurooculorenal", "syndrome", "neurooculorenal syndrome" ] }, { "record_id": "MONDO:0957210", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957210", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y6n7", "q9y6n7 1", "robo1_human", "np_001139317", "glycoprotein", "robo1", "cphd8", "dutt1", "nors", "nys8", "sax3" ] }, { "record_id": "MONDO:0957210", "record_type": "disease", "section": "proteins", "phraselist": [ "roundabout", "homolog", "roundabout homolog", "homolog 1", "roundabout homolog 1", "deleted", "in", "twenty", "deleted in", "in u", "u twenty", "twenty twenty", "deleted in u", "in u twenty", "u twenty twenty", "deleted in u twenty", "in u twenty twenty", "deleted in u twenty twenty", "robo", "h robo", "robo 1", "h robo 1", "isoform", "precursor", "1 isoform", "isoform d", "d precursor", "homolog 1 isoform", "1 isoform d", "isoform d precursor", "roundabout homolog 1 isoform", "homolog 1 isoform d", "1 isoform d precursor", "roundabout homolog 1 isoform d", "homolog 1 isoform d precursor", "axon", "guidance", "receptor", "axon guidance", "guidance receptor", "roundabout axon", "axon guidance receptor", "receptor homolog", "roundabout axon guidance", "guidance receptor homolog", "receptor homolog 1", "roundabout axon guidance receptor", "axon guidance receptor homolog", "guidance receptor homolog 1" ] }, { "record_id": "MONDO:0957211", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957211", "0957211", "mim:620306", "620306" ] }, { "record_id": "MONDO:0957211", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodegeneration", "and", "seizures", "due", "to", "copper", "transport", "defect", "neurodegeneration and", "and seizures", "seizures due", "due to", "to copper", "copper transport", "transport defect", "neurodegeneration and seizures", "and seizures due", "seizures due to", "due to copper", "to copper transport", "copper transport defect", "neurodegeneration and seizures due", "and seizures due to", "seizures due to copper", "due to copper transport", "to copper transport defect", "neurodegeneration and seizures due to", "and seizures due to copper", "seizures due to copper transport", "due to copper transport defect" ] }, { "record_id": "MONDO:0957211", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957211", "record_type": "disease", "section": "proteins", "phraselist": [ "o15431", "o15431 1", "copt1_human", "np_001850", "glycoprotein", "slc31a1", "copt1", "ctr1", "nsct" ] }, { "record_id": "MONDO:0957211", "record_type": "disease", "section": "proteins", "phraselist": [ "high", "affinity", "copper", "uptake", "protein", "high affinity", "affinity copper", "copper uptake", "uptake protein", "protein 1", "high affinity copper", "affinity copper uptake", "copper uptake protein", "uptake protein 1", "high affinity copper uptake", "affinity copper uptake protein", "copper uptake protein 1", "high affinity copper uptake protein", "affinity copper uptake protein 1", "transporter", "copper transporter", "transporter 1", "copper transporter 1", "solute", "carrier", "family", "31", "member", "solute carrier", "carrier family", "family 31", "31 member", "member 1", "solute carrier family", "carrier family 31", "family 31 member", "31 member 1", "solute carrier family 31", "carrier family 31 member", "family 31 member 1", "solute carrier family 31 member", "carrier family 31 member 1", "transport", "homolog", "copper transport", "transport 1", "1 homolog", "copper transport 1", "transport 1 homolog", "copper transport 1 homolog", "hctr1", "31 copper", "family 31 copper", "31 copper transporter", "transporter member", "carrier family 31 copper", "family 31 copper transporter", "copper transporter member", "transporter member 1", "transporters", "copper transporters", "31 copper transporters", "transporters member", "family 31 copper transporters", "copper transporters member", "transporters member 1" ] }, { "record_id": "MONDO:0957216", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957216", "0957216", "mim:620311", "620311" ] }, { "record_id": "MONDO:0957216", "record_type": "disease", "section": "disease_name", "phraselist": [ "premature", "ovarian", "failure", "21", "premature ovarian", "ovarian failure", "failure 21", "premature ovarian failure", "ovarian failure 21", "premature ovarian failure 21" ] }, { "record_id": "MONDO:0957216", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957216", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h3d4", "q9h3d4 1", "p63_human", "np_001108450", "glycoprotein", "tp63", "ais", "p51a", "b p51a", "p51b", "b p51b", "eec3", "ket", "lms", "nbp", "ofc8", "p63", "p73h", "p73l", "rhs", "shfm4", "tp53cp", "tp53l", "tp73l", "p40", "p51", "p53cp" ] }, { "record_id": "MONDO:0957216", "record_type": "disease", "section": "proteins", "phraselist": [ "tumor", "protein", "63", "tumor protein", "protein 63", "tumor protein 63", "cusp", "chronic", "ulcerative", "stomatitis", "chronic ulcerative", "ulcerative stomatitis", "stomatitis protein", "chronic ulcerative stomatitis", "ulcerative stomatitis protein", "chronic ulcerative stomatitis protein", "keratinocyte", "transcription", "factor", "ket", "keratinocyte transcription", "transcription factor", "factor ket", "keratinocyte transcription factor", "transcription factor ket", "keratinocyte transcription factor ket", "tp63", "transformation", "related", "transformation related", "related protein", "transformation related protein", "related protein 63", "transformation related protein 63", "p73", "like", "protein p73", "p73 like", "tumor protein p73", "protein p73 like", "tumor protein p73 like", "amplified", "in", "squamous", "cell", "carcinoma", "amplified in", "in squamous", "squamous cell", "cell carcinoma", "amplified in squamous", "in squamous cell", "squamous cell carcinoma", "amplified in squamous cell", "in squamous cell carcinoma", "amplified in squamous cell carcinoma", "p40", "p51", "p63", "p73l", "isoform", "63 isoform", "isoform 2", "protein 63 isoform", "63 isoform 2", "tumor protein 63 isoform", "protein 63 isoform 2", "tumor protein 63 isoform 2", "p53", "competing", "protein p53", "p53 competing", "competing protein", "tumor protein p53", "protein p53 competing", "p53 competing protein", "tumor protein p53 competing", "protein p53 competing protein", "tumor protein p53 competing protein" ] }, { "record_id": "MONDO:0957218", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957218", "0957218", "mim:620317", "620317" ] }, { "record_id": "MONDO:0957218", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "and", "speech", "delay", "or", "without", "brain", "abnormalities", "neurodevelopmental disorder", "disorder with", "with microcephaly", "microcephaly and", "and speech", "speech delay", "with or", "or without", "without brain", "brain abnormalities", "neurodevelopmental disorder with", "disorder with microcephaly", "with microcephaly and", "microcephaly and speech", "and speech delay", "delay with", "with or without", "or without brain", "without brain abnormalities", "neurodevelopmental disorder with microcephaly", "disorder with microcephaly and", "with microcephaly and speech", "microcephaly and speech delay", "speech delay with", "delay with or", "with or without brain", "or without brain abnormalities", "neurodevelopmental disorder with microcephaly and", "disorder with microcephaly and speech", "with microcephaly and speech delay", "and speech delay with", "speech delay with or", "delay with or without", "with or without brain abnormalities" ] }, { "record_id": "MONDO:0957218", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957218", "record_type": "disease", "section": "proteins", "phraselist": [ "p23381", "p23381 1", "sywc_human", "np_004175", "glycoprotein", "wars1", "gamma", "gamma 2", "hmn9", "hmnd9", "ifi53", "ifp53", "nedmsba", "wars", "wrs" ] }, { "record_id": "MONDO:0957218", "record_type": "disease", "section": "proteins", "phraselist": [ "tryptophan", "trna", "ligase", "cytoplasmic", "trna ligase", "tryptophan trna", "ligase cytoplasmic", "tryptophan trna ligase", "trna ligase cytoplasmic", "6.1.1.2", "ifp53", "interferon", "induced", "protein", "53", "interferon induced", "induced protein", "protein 53", "interferon induced protein", "induced protein 53", "interferon induced protein 53", "trprs", "tryptophanyl", "synthetase", "tryptophanyl trna", "trna synthetase", "tryptophanyl trna synthetase", "epididymis", "secretory", "sperm", "binding", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "hwrs", "ligase 1", "trna ligase 1", "1 cytoplasmic", "tryptophan trna ligase 1", "ligase 1 cytoplasmic", "trna ligase 1 cytoplasmic", "isoform", "cytoplasmic isoform", "isoform a", "cytoplasmic isoform a", "ligase cytoplasmic isoform", "trna ligase cytoplasmic isoform", "ligase cytoplasmic isoform a" ] }, { "record_id": "MONDO:0957220", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957220", "0957220", "mim:620319", "620319" ] }, { "record_id": "MONDO:0957220", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte/zygote/embryo", "maturation", "arrest", "17", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 17", "oocyte/zygote/embryo maturation arrest", "maturation arrest 17", "oocyte/zygote/embryo maturation arrest 17" ] }, { "record_id": "MONDO:0957220", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957220", "record_type": "disease", "section": "proteins", "phraselist": [ "a9qm74", "a9qm74 1", "ima8_human", "np_001139187", "glycoprotein", "kpna7", "ipoa8", "ozema17" ] }, { "record_id": "MONDO:0957220", "record_type": "disease", "section": "proteins", "phraselist": [ "importin", "subunit", "alpha", "importin subunit", "subunit alpha", "alpha 8", "importin subunit alpha", "subunit alpha 8", "importin subunit alpha 8", "karyopherin", "karyopherin subunit", "alpha 7", "karyopherin subunit alpha", "subunit alpha 7", "karyopherin subunit alpha 7", "karyopherin alpha", "karyopherin alpha 7" ] }, { "record_id": "MONDO:0957225", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957225", "0957225", "mim:620327", "620327" ] }, { "record_id": "MONDO:0957225", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodegeneration", "with", "developmental", "delay", "early", "respiratory", "failure", "myoclonic", "seizures", "and", "brain", "abnormalities", "neurodegeneration with", "with developmental", "developmental delay", "early respiratory", "respiratory failure", "myoclonic seizures", "and brain", "brain abnormalities", "neurodegeneration with developmental", "with developmental delay", "delay early", "early respiratory failure", "failure myoclonic", "seizures and", "and brain abnormalities", "neurodegeneration with developmental delay", "developmental delay early", "delay early respiratory", "respiratory failure myoclonic", "failure myoclonic seizures", "myoclonic seizures and", "seizures and brain", "with developmental delay early", "developmental delay early respiratory", "delay early respiratory failure", "early respiratory failure myoclonic", "respiratory failure myoclonic seizures", "myoclonic seizures and brain", "seizures and brain abnormalities" ] }, { "record_id": "MONDO:0957225", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957225", "record_type": "disease", "section": "proteins", "phraselist": [ "q9p086", "q9p086 1", "med11_human", "np_001291929", "med11", "hspc296", "nddrsb" ] }, { "record_id": "MONDO:0957225", "record_type": "disease", "section": "proteins", "phraselist": [ "mediator", "of", "rna", "polymerase", "ii", "transcription", "subunit", "11", "mediator of", "of rna", "rna polymerase", "polymerase ii", "ii transcription", "transcription subunit", "subunit 11", "mediator of rna", "of rna polymerase", "rna polymerase ii", "polymerase ii transcription", "ii transcription subunit", "transcription subunit 11", "mediator of rna polymerase", "of rna polymerase ii", "rna polymerase ii transcription", "polymerase ii transcription subunit", "ii transcription subunit 11", "mediator of rna polymerase ii", "of rna polymerase ii transcription", "rna polymerase ii transcription subunit", "polymerase ii transcription subunit 11", "complex", "mediator complex", "complex subunit", "mediator complex subunit", "complex subunit 11", "mediator complex subunit 11", "isoform", "11 isoform", "isoform b", "subunit 11 isoform", "11 isoform b", "transcription subunit 11 isoform", "subunit 11 isoform b", "ii transcription subunit 11 isoform", "transcription subunit 11 isoform b", "homolog", "11 homolog", "subunit 11 homolog", "transcription subunit 11 homolog" ] }, { "record_id": "MONDO:0957229", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957229", "0957229", "mim:620331", "620331" ] }, { "record_id": "MONDO:0957229", "record_type": "disease", "section": "disease_name", "phraselist": [ "hatipoglu", "immunodeficiency", "syndrome", "hatipoglu immunodeficiency", "immunodeficiency syndrome", "hatipoglu immunodeficiency syndrome" ] }, { "record_id": "MONDO:0957229", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957229", "record_type": "disease", "section": "proteins", "phraselist": [ "q86ti2", "q86ti2 1", "dpp9_human", "np_631898", "dpp9", "dp9", "dplp9", "dpp", "ix", "dpp ix", "dprp", "dprp 2", "dprp2", "hatis", "imd111" ] }, { "record_id": "MONDO:0957229", "record_type": "disease", "section": "proteins", "phraselist": [ "dipeptidyl", "peptidase", "dipeptidyl peptidase", "peptidase 9", "dipeptidyl peptidase 9", "3.4.14.5", "dp9", "dplp9", "dpp", "ix", "dpp ix", "dprp", "dprp 2", "iv", "related", "protein", "peptidase iv", "iv related", "related protein", "protein 2", "dipeptidyl peptidase iv", "peptidase iv related", "iv related protein", "related protein 2", "dipeptidyl peptidase iv related", "peptidase iv related protein", "iv related protein 2", "dipeptidyl peptidase iv related protein", "peptidase iv related protein 2", "peptidase ix", "dipeptidyl peptidase ix", "like", "peptidase like", "like protein", "protein 9", "dipeptidyl peptidase like", "peptidase like protein", "like protein 9", "dipeptidyl peptidase like protein", "peptidase like protein 9", "dipeptidyl peptidase like protein 9", "isoform", "9 isoform", "isoform 1", "peptidase 9 isoform", "9 isoform 1", "dipeptidyl peptidase 9 isoform", "peptidase 9 isoform 1", "dipeptidyl peptidase 9 isoform 1" ] }, { "record_id": "MONDO:0957230", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957230", "0957230", "mim:620332", "620332" ] }, { "record_id": "MONDO:0957230", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte/zygote/embryo", "maturation", "arrest", "18", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 18", "oocyte/zygote/embryo maturation arrest", "maturation arrest 18", "oocyte/zygote/embryo maturation arrest 18" ] }, { "record_id": "MONDO:0957230", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957230", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nx02", "q9nx02 1", "nalp2_human", "np_001167552", "glycoprotein", "nlrp2", "clr19.9", "nalp2", "nbs1", "ozema18", "pan1", "pypaf2" ] }, { "record_id": "MONDO:0957230", "record_type": "disease", "section": "proteins", "phraselist": [ "nacht", "lrr", "and", "pyd", "domains", "containing", "protein", "lrr and", "and pyd", "pyd domains", "domains containing", "containing protein", "protein 2", "nacht lrr", "lrr and pyd", "and pyd domains", "pyd domains containing", "domains containing protein", "containing protein 2", "nacht lrr and", "lrr and pyd domains", "and pyd domains containing", "pyd domains containing protein", "domains containing protein 2", "nacht lrr and pyd", "lrr and pyd domains containing", "and pyd domains containing protein", "pyd domains containing protein 2", "isoform", "2 isoform", "isoform 1", "protein 2 isoform", "2 isoform 1", "containing protein 2 isoform", "protein 2 isoform 1", "domains containing protein 2 isoform", "containing protein 2 isoform 1", "leucine", "rich", "repeat", "leucine rich", "rich repeat", "repeat and", "pyd containing", "containing 2", "nacht leucine", "leucine rich repeat", "rich repeat and", "repeat and pyd", "and pyd containing", "pyd containing 2", "nacht leucine rich", "leucine rich repeat and", "rich repeat and pyd", "repeat and pyd containing", "and pyd containing 2", "nacht leucine rich repeat", "leucine rich repeat and pyd", "rich repeat and pyd containing", "repeat and pyd containing 2", "nucleotide", "binding", "site", "nucleotide binding", "binding site", "site protein", "protein 1", "nucleotide binding site", "binding site protein", "site protein 1", "nucleotide binding site protein", "binding site protein 1", "nucleotide binding site protein 1", "pyrin", "domain", "pyrin domain", "domain and", "and nacht", "nacht domain", "domain containing", "pyrin domain and", "domain and nacht", "and nacht domain", "nacht domain containing", "domain containing protein", "containing protein 1", "pyrin domain and nacht", "domain and nacht domain", "and nacht domain containing", "nacht domain containing protein", "domain containing protein 1", "pyrin domain and nacht domain", "domain and nacht domain containing", "and nacht domain containing protein", "nacht domain containing protein 1", "apaf1", "like", "pyrin containing", "containing apaf1", "apaf1 like", "like protein", "pyrin containing apaf1", "containing apaf1 like", "apaf1 like protein", "like protein 2", "pyrin containing apaf1 like", "containing apaf1 like protein", "apaf1 like protein 2", "pyrin containing apaf1 like protein", "containing apaf1 like protein 2", "oligomerization", "binding oligomerization", "oligomerization domain", "and pyrin", "nucleotide binding oligomerization", "binding oligomerization domain", "domain leucine", "repeat and pyrin", "and pyrin domain", "pyrin domain containing", "domain containing 2", "nucleotide binding oligomerization domain", "oligomerization domain leucine", "domain leucine rich", "rich repeat and pyrin", "repeat and pyrin domain", "and pyrin domain containing", "pyrin domain containing 2", "binding oligomerization domain leucine", "oligomerization domain leucine rich", "domain leucine rich repeat", "leucine rich repeat and pyrin", "rich repeat and pyrin domain", "repeat and pyrin domain containing", "and pyrin domain containing 2" ] }, { "record_id": "MONDO:0957231", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957231", "0957231", "mim:620333", "620333" ] }, { "record_id": "MONDO:0957231", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte/zygote/embryo", "maturation", "arrest", "19", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 19", "oocyte/zygote/embryo maturation arrest", "maturation arrest 19", "oocyte/zygote/embryo maturation arrest 19" ] }, { "record_id": "MONDO:0957231", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957231", "record_type": "disease", "section": "proteins", "phraselist": [ "p59047", "p59047 1", "nalp5_human", "glycoprotein", "nlrp5", "mater", "nalp5" ] }, { "record_id": "MONDO:0957231", "record_type": "disease", "section": "proteins", "phraselist": [ "nacht", "lrr", "and", "pyd", "domains", "containing", "protein", "lrr and", "and pyd", "pyd domains", "domains containing", "containing protein", "protein 5", "nacht lrr", "lrr and pyd", "and pyd domains", "pyd domains containing", "domains containing protein", "containing protein 5", "nacht lrr and", "lrr and pyd domains", "and pyd domains containing", "pyd domains containing protein", "domains containing protein 5", "nacht lrr and pyd", "lrr and pyd domains containing", "and pyd domains containing protein", "pyd domains containing protein 5", "mater", "homolog", "mater protein", "protein homolog", "mater protein homolog", "maternal", "antigen", "that", "embryos", "require", "maternal antigen", "antigen that", "that embryos", "embryos require", "maternal antigen that", "antigen that embryos", "that embryos require", "maternal antigen that embryos", "antigen that embryos require", "maternal antigen that embryos require" ] }, { "record_id": "MONDO:0957252", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957252", "0957252", "mim:620356", "620356" ] }, { "record_id": "MONDO:0957252", "record_type": "disease", "section": "disease_name", "phraselist": [ "ciliary", "dyskinesia", "primary", "50", "ciliary dyskinesia", "dyskinesia primary", "primary 50", "ciliary dyskinesia primary", "dyskinesia primary 50" ] }, { "record_id": "MONDO:0957252", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957252", "record_type": "disease", "section": "proteins", "phraselist": [ "q8wxx0", "q8wxx0 1", "dyh7_human", "np_061720", "glycoprotein", "dnah7", "cild50", "kiaa0944" ] }, { "record_id": "MONDO:0957252", "record_type": "disease", "section": "proteins", "phraselist": [ "dynein", "axonemal", "heavy", "chain", "dynein axonemal", "axonemal heavy", "heavy chain", "chain 7", "dynein axonemal heavy", "axonemal heavy chain", "heavy chain 7", "dynein axonemal heavy chain", "axonemal heavy chain 7", "dynein axonemal heavy chain 7", "beta", "axonemal beta", "beta dynein", "dynein heavy", "axonemal beta dynein", "beta dynein heavy", "dynein heavy chain", "axonemal beta dynein heavy", "beta dynein heavy chain", "dynein heavy chain 7", "axonemal beta dynein heavy chain", "beta dynein heavy chain 7", "ciliary", "ciliary dynein", "ciliary dynein heavy", "ciliary dynein heavy chain", "ciliary dynein heavy chain 7", "like", "protein", "chain like", "like protein", "protein 2", "heavy chain like", "chain like protein", "like protein 2", "dynein heavy chain like", "heavy chain like protein", "chain like protein 2", "dynein heavy chain like protein", "heavy chain like protein 2", "axonemal dynein", "axonemal dynein heavy", "axonemal dynein heavy chain", "axonemal dynein heavy chain 7", "7 axonemal", "chain 7 axonemal", "heavy chain 7 axonemal", "polypeptide", "heavy polypeptide", "polypeptide 7", "heavy polypeptide 7", "axonemal heavy polypeptide", "axonemal heavy polypeptide 7", "hdhc2" ] }, { "record_id": "MONDO:0957253", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957253", "0957253", "mim:620357", "620357" ] }, { "record_id": "MONDO:0957253", "record_type": "disease", "section": "disease_name", "phraselist": [ "diarrhea", "13", "diarrhea 13" ] }, { "record_id": "MONDO:0957253", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957253", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ulc5", "q9ulc5 1", "acsl5_human", "np_057318", "glycoprotein", "acsl5", "acs2", "acs5", "diar13", "facl5", "pro1250" ] }, { "record_id": "MONDO:0957253", "record_type": "disease", "section": "proteins", "phraselist": [ "long", "chain", "fatty", "acid", "coa", "ligase", "long chain", "chain fatty", "fatty acid", "coa ligase", "ligase 5", "long chain fatty", "chain fatty acid", "acid coa", "coa ligase 5", "long chain fatty acid", "fatty acid coa", "acid coa ligase", "chain fatty acid coa", "fatty acid coa ligase", "acid coa ligase 5", "6.2.1.15", "6.2.1.3", "arachidonate", "arachidonate coa", "arachidonate coa ligase", "facl5", "for", "coenzyme", "facl5 for", "for fatty", "acid coenzyme", "coenzyme a", "a ligase", "facl5 for fatty", "for fatty acid", "fatty acid coenzyme", "acid coenzyme a", "coenzyme a ligase", "a ligase 5", "facl5 for fatty acid", "for fatty acid coenzyme", "fatty acid coenzyme a", "acid coenzyme a ligase", "coenzyme a ligase 5", "facl5 for fatty acid coenzyme", "for fatty acid coenzyme a", "fatty acid coenzyme a ligase", "acid coenzyme a ligase 5", "lacs", "lacs 5", "acyl", "synthetase", "chain acyl", "acyl coa", "coa synthetase", "synthetase 5", "long chain acyl", "chain acyl coa", "acyl coa synthetase", "coa synthetase 5", "long chain acyl coa", "chain acyl coa synthetase", "acyl coa synthetase 5", "long chain acyl coa synthetase", "chain acyl coa synthetase 5", "chain 5", "ligase long", "long chain 5", "a ligase long", "ligase long chain", "coenzyme a ligase long", "a ligase long chain", "ligase long chain 5", "chain fatty acid coenzyme", "long chain fatty acid coenzyme", "chain fatty acid coenzyme a", "isoform", "5 isoform", "isoform a", "ligase 5 isoform", "5 isoform a", "coa ligase 5 isoform", "ligase 5 isoform a", "coa ligase 5 isoform a" ] }, { "record_id": "MONDO:0957260", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957260", "0957260", "mim:620364", "620364" ] }, { "record_id": "MONDO:0957260", "record_type": "disease", "section": "disease_name", "phraselist": [ "combined", "low", "ldl", "and", "fibrinogen", "combined low", "low ldl", "ldl and", "and fibrinogen", "combined low ldl", "low ldl and", "ldl and fibrinogen", "combined low ldl and", "low ldl and fibrinogen", "combined low ldl and fibrinogen" ] }, { "record_id": "MONDO:0957260", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957260", "record_type": "disease", "section": "proteins", "phraselist": [ "p15291", "p15291 1", "b4gt1_human", "np_001488", "glycoprotein", "b4galt1", "b4gal", "t1", "b4gal t1", "cdg2d", "cldlfib", "ggtb2", "gt1", "gtb", "beta4gal", "beta4gal t1" ] }, { "record_id": "MONDO:0957260", "record_type": "disease", "section": "proteins", "phraselist": [ "beta", "galactosyltransferase", "beta 1", "1 4", "4 galactosyltransferase", "galactosyltransferase 1", "beta 1 4", "1 4 galactosyltransferase", "4 galactosyltransferase 1", "beta 1 4 galactosyltransferase", "1 4 galactosyltransferase 1", "beta 1 4 galactosyltransferase 1", "2.4.1.", "2.4.1.22", "2.4.1.275", "2.4.1.38", "2.4.1.90", "galtase", "4 galtase", "galtase 1", "1 4 galtase", "4 galtase 1", "beta 1 4 galtase", "1 4 galtase 1", "beta 1 4 galtase 1", "acetylglucosaminyl", "glycolipid", "beta n", "n acetylglucosaminyl", "acetylglucosaminyl glycolipid", "glycolipid beta", "beta n acetylglucosaminyl", "n acetylglucosaminyl glycolipid", "acetylglucosaminyl glycolipid beta", "glycolipid beta 1", "beta n acetylglucosaminyl glycolipid", "n acetylglucosaminyl glycolipid beta", "acetylglucosaminyl glycolipid beta 1", "glycolipid beta 1 4", "beta n acetylglucosaminyl glycolipid beta", "n acetylglucosaminyl glycolipid beta 1", "acetylglucosaminyl glycolipid beta 1 4", "glycolipid beta 1 4 galactosyltransferase", "acetylglucosaminylglycopeptide", "n acetylglucosaminylglycopeptide", "acetylglucosaminylglycopeptide beta", "beta n acetylglucosaminylglycopeptide", "n acetylglucosaminylglycopeptide beta", "acetylglucosaminylglycopeptide beta 1", "beta n acetylglucosaminylglycopeptide beta", "n acetylglucosaminylglycopeptide beta 1", "acetylglucosaminylglycopeptide beta 1 4", "beta n acetylglucosaminylglycopeptide beta 1", "n acetylglucosaminylglycopeptide beta 1 4", "acetylglucosaminylglycopeptide beta 1 4 galactosyltransferase", "beta4gal", "t1", "beta4gal t1", "lactose", "synthase", "protein", "lactose synthase", "synthase a", "a protein", "lactose synthase a", "synthase a protein", "lactose synthase a protein", "acetyllactosamine", "n acetyllactosamine", "acetyllactosamine synthase", "n acetyllactosamine synthase", "nal", "nal synthase", "neolactotriaosylceramide", "neolactotriaosylceramide beta", "neolactotriaosylceramide beta 1", "neolactotriaosylceramide beta 1 4", "neolactotriaosylceramide beta 1 4 galactosyltransferase", "udp", "gal:beta", "glcnac", "udp gal:beta", "gal:beta glcnac", "glcnac beta", "udp gal:beta glcnac", "gal:beta glcnac beta", "glcnac beta 1", "udp gal:beta glcnac beta", "gal:beta glcnac beta 1", "glcnac beta 1 4", "udp gal:beta glcnac beta 1", "gal:beta glcnac beta 1 4", "glcnac beta 1 4 galactosyltransferase", "gal:betaglcnac", "polypeptide", "udp gal:betaglcnac", "gal:betaglcnac beta", "polypeptide 1", "udp gal:betaglcnac beta", "gal:betaglcnac beta 1", "galactosyltransferase polypeptide", "udp gal:betaglcnac beta 1", "gal:betaglcnac beta 1 4", "galactosyltransferase polypeptide 1", "udp gal:betaglcnac beta 1 4", "4 galactosyltransferase polypeptide", "galactose:beta", "acetylglucosamine", "udp galactose:beta", "galactose:beta n", "n acetylglucosamine", "acetylglucosamine beta", "udp galactose:beta n", "galactose:beta n acetylglucosamine", "n acetylglucosamine beta", "acetylglucosamine beta 1", "udp galactose:beta n acetylglucosamine", "galactose:beta n acetylglucosamine beta", "n acetylglucosamine beta 1", "acetylglucosamine beta 1 4", "udp galactose:beta n acetylglucosamine beta", "galactose:beta n acetylglucosamine beta 1", "n acetylglucosamine beta 1 4", "acetylglucosamine beta 1 4 galactosyltransferase", "b4gal", "b4gal t1", "isoform", "1 isoform", "isoform 1", "galactosyltransferase 1 isoform", "1 isoform 1", "4 galactosyltransferase 1 isoform", "galactosyltransferase 1 isoform 1", "1 4 galactosyltransferase 1 isoform", "4 galactosyltransferase 1 isoform 1", "glycoprotein", "glycoprotein 4", "4 beta", "beta galactosyltransferase", "galactosyltransferase 2", "glycoprotein 4 beta", "4 beta galactosyltransferase", "beta galactosyltransferase 2", "glycoprotein 4 beta galactosyltransferase", "4 beta galactosyltransferase 2", "glycoprotein 4 beta galactosyltransferase 2" ] }, { "record_id": "MONDO:0957261", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957261", "0957261", "mim:620365", "620365" ] }, { "record_id": "MONDO:0957261", "record_type": "disease", "section": "disease_name", "phraselist": [ "pulmonary", "fibrosis", "and/or", "bone", "marrow", "failure", "syndrome", "telomere", "related", "pulmonary fibrosis", "fibrosis and/or", "and/or bone", "bone marrow", "marrow failure", "failure syndrome", "telomere related", "pulmonary fibrosis and/or", "fibrosis and/or bone", "and/or bone marrow", "bone marrow failure", "marrow failure syndrome", "syndrome telomere", "related 7", "pulmonary fibrosis and/or bone", "fibrosis and/or bone marrow", "and/or bone marrow failure", "bone marrow failure syndrome", "failure syndrome telomere", "syndrome telomere related", "telomere related 7", "pulmonary fibrosis and/or bone marrow", "fibrosis and/or bone marrow failure", "and/or bone marrow failure syndrome", "marrow failure syndrome telomere", "failure syndrome telomere related" ] }, { "record_id": "MONDO:0957261", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957261", "record_type": "disease", "section": "proteins", "phraselist": [ "q96hr8", "q96hr8 1", "naf1_human", "np_001122403", "glycoprotein", "naf1", "pfbmft7" ] }, { "record_id": "MONDO:0957261", "record_type": "disease", "section": "proteins", "phraselist": [ "h/aca", "ribonucleoprotein", "complex", "non", "core", "subunit", "naf1", "h/aca ribonucleoprotein", "ribonucleoprotein complex", "complex non", "non core", "core subunit", "subunit naf1", "h/aca ribonucleoprotein complex", "ribonucleoprotein complex non", "complex non core", "non core subunit", "core subunit naf1", "h/aca ribonucleoprotein complex non", "ribonucleoprotein complex non core", "complex non core subunit", "non core subunit naf1", "h/aca ribonucleoprotein complex non core", "ribonucleoprotein complex non core subunit", "complex non core subunit naf1", "isoform", "naf1 isoform", "isoform b", "subunit naf1 isoform", "naf1 isoform b", "core subunit naf1 isoform", "subunit naf1 isoform b", "non core subunit naf1 isoform", "core subunit naf1 isoform b", "hnaf1", "nuclear", "assembly", "factor", "homolog", "nuclear assembly", "assembly factor", "factor 1", "1 homolog", "nuclear assembly factor", "assembly factor 1", "factor 1 homolog", "nuclear assembly factor 1", "assembly factor 1 homolog", "nuclear assembly factor 1 homolog" ] }, { "record_id": "MONDO:0957262", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957262", "0957262", "mim:620366", "620366" ] }, { "record_id": "MONDO:0957262", "record_type": "disease", "section": "disease_name", "phraselist": [ "osteopetrosis", "autosomal", "recessive", "autosomal recessive", "recessive 9", "osteopetrosis autosomal", "autosomal recessive 9", "osteopetrosis autosomal recessive", "osteopetrosis autosomal recessive 9" ] }, { "record_id": "MONDO:0957262", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957262", "record_type": "disease", "section": "proteins", "phraselist": [ "p04920", "p04920 1", "b3a2_human", "np_001186621", "glycoprotein", "slc4a2", "ae2", "bnd3l", "epb3l1", "hkb3", "mpb3l", "nbnd3", "optb9" ] }, { "record_id": "MONDO:0957262", "record_type": "disease", "section": "proteins", "phraselist": [ "anion", "exchange", "protein", "anion exchange", "exchange protein", "protein 2", "anion exchange protein", "exchange protein 2", "anion exchange protein 2", "ae", "ae 2", "exchanger", "anion exchanger", "exchanger 2", "anion exchanger 2", "bnd3l", "non", "erythroid", "band", "like", "non erythroid", "erythroid band", "band 3", "3 like", "like protein", "non erythroid band", "erythroid band 3", "band 3 like", "3 like protein", "non erythroid band 3", "erythroid band 3 like", "band 3 like protein", "non erythroid band 3 like", "erythroid band 3 like protein", "solute", "carrier", "family", "member", "solute carrier", "carrier family", "family 4", "4 member", "member 2", "solute carrier family", "carrier family 4", "family 4 member", "4 member 2", "solute carrier family 4", "carrier family 4 member", "family 4 member 2", "solute carrier family 4 member", "carrier family 4 member 2", "isoform", "2 isoform", "isoform 1", "protein 2 isoform", "2 isoform 1", "exchange protein 2 isoform", "protein 2 isoform 1", "anion exchange protein 2 isoform", "exchange protein 2 isoform 1", "type", "2 type", "type a", "exchanger 2 type", "2 type a", "anion exchanger 2 type", "exchanger 2 type a", "anion exchanger 2 type a", "b1", "type b1", "2 type b1", "exchanger 2 type b1", "anion exchanger 2 type b1", "b2", "type b2", "2 type b2", "exchanger 2 type b2", "anion exchanger 2 type b2", "erythrocyte", "membrane", "erythrocyte membrane", "membrane protein", "protein band", "like 1", "erythrocyte membrane protein", "membrane protein band", "protein band 3", "3 like 1", "erythrocyte membrane protein band", "membrane protein band 3", "protein band 3 like", "band 3 like 1", "erythrocyte membrane protein band 3", "membrane protein band 3 like", "protein band 3 like 1", "4 anion", "family 4 anion", "4 anion exchanger", "exchanger member", "carrier family 4 anion", "family 4 anion exchanger", "anion exchanger member", "exchanger member 2" ] }, { "record_id": "MONDO:0957263", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957263", "0957263", "mim:620367", "620367" ] }, { "record_id": "MONDO:0957263", "record_type": "disease", "section": "disease_name", "phraselist": [ "pulmonary", "fibrosis", "and/or", "bone", "marrow", "failure", "syndrome", "telomere", "related", "pulmonary fibrosis", "fibrosis and/or", "and/or bone", "bone marrow", "marrow failure", "failure syndrome", "telomere related", "pulmonary fibrosis and/or", "fibrosis and/or bone", "and/or bone marrow", "bone marrow failure", "marrow failure syndrome", "syndrome telomere", "related 8", "pulmonary fibrosis and/or bone", "fibrosis and/or bone marrow", "and/or bone marrow failure", "bone marrow failure syndrome", "failure syndrome telomere", "syndrome telomere related", "telomere related 8", "pulmonary fibrosis and/or bone marrow", "fibrosis and/or bone marrow failure", "and/or bone marrow failure syndrome", "marrow failure syndrome telomere", "failure syndrome telomere related" ] }, { "record_id": "MONDO:0957263", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957263", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nux5", "q9nux5 1", "pote1_human", "np_001036059", "glycoprotein", "pot1", "cmm10", "crmcc3", "glm9", "hpot1", "pfbmft8", "tpds3" ] }, { "record_id": "MONDO:0957263", "record_type": "disease", "section": "proteins", "phraselist": [ "protection", "of", "telomeres", "protein", "protection of", "of telomeres", "telomeres protein", "protein 1", "protection of telomeres", "of telomeres protein", "telomeres protein 1", "protection of telomeres protein", "of telomeres protein 1", "protection of telomeres protein 1", "pot1", "like", "telomere", "end", "binding", "pot1 like", "like telomere", "telomere end", "end binding", "binding protein", "pot1 like telomere", "like telomere end", "telomere end binding", "end binding protein", "pot1 like telomere end", "like telomere end binding", "telomere end binding protein", "pot1 like telomere end binding", "like telomere end binding protein", "hpot1", "homolog", "telomeres 1", "1 homolog", "of telomeres 1", "telomeres 1 homolog", "protection of telomeres 1", "of telomeres 1 homolog", "protection of telomeres 1 homolog", "isoform", "1 isoform", "isoform 4", "protein 1 isoform", "1 isoform 4", "telomeres protein 1 isoform", "protein 1 isoform 4", "of telomeres protein 1 isoform", "telomeres protein 1 isoform 4" ] }, { "record_id": "MONDO:0957264", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957264", "0957264", "mim:620368", "620368" ] }, { "record_id": "MONDO:0957264", "record_type": "disease", "section": "disease_name", "phraselist": [ "cerebroretinal", "microangiopathy", "with", "calcifications", "and", "cysts", "cerebroretinal microangiopathy", "microangiopathy with", "with calcifications", "calcifications and", "and cysts", "cysts 3", "cerebroretinal microangiopathy with", "microangiopathy with calcifications", "with calcifications and", "calcifications and cysts", "and cysts 3", "cerebroretinal microangiopathy with calcifications", "microangiopathy with calcifications and", "with calcifications and cysts", "calcifications and cysts 3", "cerebroretinal microangiopathy with calcifications and", "microangiopathy with calcifications and cysts", "with calcifications and cysts 3" ] }, { "record_id": "MONDO:0957264", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957264", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nux5", "q9nux5 1", "pote1_human", "np_001036059", "glycoprotein", "pot1", "cmm10", "crmcc3", "glm9", "hpot1", "pfbmft8", "tpds3" ] }, { "record_id": "MONDO:0957264", "record_type": "disease", "section": "proteins", "phraselist": [ "protection", "of", "telomeres", "protein", "protection of", "of telomeres", "telomeres protein", "protein 1", "protection of telomeres", "of telomeres protein", "telomeres protein 1", "protection of telomeres protein", "of telomeres protein 1", "protection of telomeres protein 1", "pot1", "like", "telomere", "end", "binding", "pot1 like", "like telomere", "telomere end", "end binding", "binding protein", "pot1 like telomere", "like telomere end", "telomere end binding", "end binding protein", "pot1 like telomere end", "like telomere end binding", "telomere end binding protein", "pot1 like telomere end binding", "like telomere end binding protein", "hpot1", "homolog", "telomeres 1", "1 homolog", "of telomeres 1", "telomeres 1 homolog", "protection of telomeres 1", "of telomeres 1 homolog", "protection of telomeres 1 homolog", "isoform", "1 isoform", "isoform 4", "protein 1 isoform", "1 isoform 4", "telomeres protein 1 isoform", "protein 1 isoform 4", "of telomeres protein 1 isoform", "telomeres protein 1 isoform 4" ] }, { "record_id": "MONDO:0957266", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957266", "0957266", "mim:620370", "620370" ] }, { "record_id": "MONDO:0957266", "record_type": "disease", "section": "disease_name", "phraselist": [ "recon", "progeroid", "syndrome", "recon progeroid", "progeroid syndrome", "recon progeroid syndrome" ] }, { "record_id": "MONDO:0957266", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957266", "record_type": "disease", "section": "proteins", "phraselist": [ "p46063", "p46063 1", "recq1_human", "np_002898", "glycoprotein", "recql", "recon", "recq1", "recql1" ] }, { "record_id": "MONDO:0957266", "record_type": "disease", "section": "proteins", "phraselist": [ "atp", "dependent", "dna", "helicase", "q1", "atp dependent", "dependent dna", "dna helicase", "helicase q1", "atp dependent dna", "dependent dna helicase", "dna helicase q1", "atp dependent dna helicase", "dependent dna helicase q1", "atp dependent dna helicase q1", "5.6.2.4", "3'", "5'", "dna 3'", "3' 5'", "5' helicase", "dna 3' 5'", "3' 5' helicase", "5' helicase q1", "dna 3' 5' helicase", "3' 5' helicase q1", "dna 3' 5' helicase q1", "recq", "like", "type", "recq like", "like type", "type 1", "helicase recq", "recq like type", "like type 1", "dna helicase recq", "helicase recq like", "recq like type 1", "dna helicase recq like", "helicase recq like type", "atpase", "dna dependent", "dependent atpase", "atpase q1", "dna dependent atpase", "dependent atpase q1", "dna dependent atpase q1", "recq helicase", "helicase like", "recq helicase like", "protein", "recq protein", "protein like", "q1 like", "recq protein like", "like dna", "helicase q1 like", "protein like dna", "like dna helicase", "dna helicase q1 like", "recq protein like dna", "protein like dna helicase", "like dna helicase q1", "like 1", "protein like 1", "recq protein like 1", "recq1" ] }, { "record_id": "MONDO:0957267", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957267", "0957267", "mim:620371", "620371" ] }, { "record_id": "MONDO:0957267", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "intracranial", "hemorrhage", "seizures", "and", "spasticity", "neurodevelopmental disorder", "disorder with", "with intracranial", "intracranial hemorrhage", "and spasticity", "neurodevelopmental disorder with", "disorder with intracranial", "with intracranial hemorrhage", "hemorrhage seizures", "seizures and", "neurodevelopmental disorder with intracranial", "disorder with intracranial hemorrhage", "intracranial hemorrhage seizures", "seizures and spasticity", "neurodevelopmental disorder with intracranial hemorrhage", "with intracranial hemorrhage seizures", "hemorrhage seizures and" ] }, { "record_id": "MONDO:0957267", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957267", "record_type": "disease", "section": "proteins", "phraselist": [ "q96ap7", "q96ap7 1", "esam_human", "np_620411", "glycoprotein", "esam", "nedihss", "pro246", "w117m" ] }, { "record_id": "MONDO:0957267", "record_type": "disease", "section": "proteins", "phraselist": [ "endothelial", "cell", "selective", "adhesion", "molecule", "endothelial cell", "cell selective", "selective adhesion", "adhesion molecule", "endothelial cell selective", "cell selective adhesion", "selective adhesion molecule", "endothelial cell selective adhesion", "cell selective adhesion molecule", "endothelial cell selective adhesion molecule", "2310008d05rik", "huel", "c4orf1", "interacting", "protein", "interacting protein", "huel c4orf1", "c4orf1 interacting", "c4orf1 interacting protein", "huel c4orf1 interacting", "lp4791", "lp4791 protein", "precursor", "molecule precursor", "adhesion molecule precursor", "selective adhesion molecule precursor", "cell selective adhesion molecule precursor" ] }, { "record_id": "MONDO:0957268", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957268", "0957268", "mim:620372", "620372" ] }, { "record_id": "MONDO:0957268", "record_type": "disease", "section": "disease_name", "phraselist": [ "hypersulfaturia" ] }, { "record_id": "MONDO:0957268", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957268", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h2b4", "q9h2b4 1", "s26a1_human", "np_071325", "glycoprotein", "slc26a1", "caon1", "caon", "edm4", "hysulf", "sat", "sat 1", "sat1" ] }, { "record_id": "MONDO:0957268", "record_type": "disease", "section": "proteins", "phraselist": [ "sulfate", "anion", "transporter", "sulfate anion", "anion transporter", "transporter 1", "sulfate anion transporter", "anion transporter 1", "sulfate anion transporter 1", "sat", "sat 1", "solute", "carrier", "family", "26", "member", "solute carrier", "carrier family", "family 26", "26 member", "member 1", "solute carrier family", "carrier family 26", "family 26 member", "26 member 1", "solute carrier family 26", "carrier family 26 member", "family 26 member 1", "solute carrier family 26 member", "carrier family 26 member 1", "exchanger", "anion exchanger", "26 anion", "family 26 anion", "26 anion exchanger", "exchanger member", "carrier family 26 anion", "family 26 anion exchanger", "anion exchanger member", "exchanger member 1", "sulfate transporter", "26 sulfate", "family 26 sulfate", "26 sulfate transporter", "transporter member", "carrier family 26 sulfate", "family 26 sulfate transporter", "sulfate transporter member", "transporter member 1", "tranporter", "at1", "anion tranporter", "tranporter at1", "sulfate anion tranporter", "anion tranporter at1", "sulfate anion tranporter at1", "isoform", "1 isoform", "isoform a", "transporter 1 isoform", "1 isoform a", "anion transporter 1 isoform", "transporter 1 isoform a", "sulfate anion transporter 1 isoform", "anion transporter 1 isoform a", "sulfate/anion", "protein", "sulfate/anion transporter", "transporter sat", "1 protein", "sulfate/anion transporter sat", "transporter sat 1", "sat 1 protein", "sulfate/anion transporter sat 1", "transporter sat 1 protein", "sulfate/anion transporter sat 1 protein" ] }, { "record_id": "MONDO:0957271", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957271", "0957271", "mim:620376", "620376" ] }, { "record_id": "MONDO:0957271", "record_type": "disease", "section": "disease_name", "phraselist": [ "autoinflammatory", "disease", "systemic", "with", "vasculitis", "autoinflammatory disease", "with vasculitis", "disease systemic", "systemic with", "autoinflammatory disease systemic", "systemic with vasculitis", "disease systemic with" ] }, { "record_id": "MONDO:0957271", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957271", "record_type": "disease", "section": "proteins", "phraselist": [ "p07948", "p07948 1", "lyn_human", "np_001104567", "lyn", "jtk8", "saidv", "p53lyn", "p56lyn" ] }, { "record_id": "MONDO:0957271", "record_type": "disease", "section": "proteins", "phraselist": [ "tyrosine", "protein", "kinase", "lyn", "tyrosine protein", "protein kinase", "kinase lyn", "tyrosine protein kinase", "protein kinase lyn", "tyrosine protein kinase lyn", "2.7.10.2", "lck/yes", "related", "novel", "lck/yes related", "related novel", "novel protein", "protein tyrosine", "tyrosine kinase", "lck/yes related novel", "related novel protein", "novel protein tyrosine", "protein tyrosine kinase", "lck/yes related novel protein", "related novel protein tyrosine", "novel protein tyrosine kinase", "lck/yes related novel protein tyrosine", "related novel protein tyrosine kinase", "yes", "yamaguchi", "sarcoma", "viral", "oncogene", "homolog", "v yes", "yes 1", "1 yamaguchi", "yamaguchi sarcoma", "sarcoma viral", "viral related", "related oncogene", "oncogene homolog", "v yes 1", "yes 1 yamaguchi", "1 yamaguchi sarcoma", "yamaguchi sarcoma viral", "sarcoma viral related", "viral related oncogene", "related oncogene homolog", "v yes 1 yamaguchi", "yes 1 yamaguchi sarcoma", "1 yamaguchi sarcoma viral", "yamaguchi sarcoma viral related", "sarcoma viral related oncogene", "viral related oncogene homolog", "v yes 1 yamaguchi sarcoma", "yes 1 yamaguchi sarcoma viral", "1 yamaguchi sarcoma viral related", "yamaguchi sarcoma viral related oncogene", "sarcoma viral related oncogene homolog", "p53lyn", "p56lyn", "isoform", "lyn isoform", "isoform b", "kinase lyn isoform", "lyn isoform b", "protein kinase lyn isoform", "kinase lyn isoform b", "tyrosine protein kinase lyn isoform", "protein kinase lyn isoform b" ] }, { "record_id": "MONDO:0957278", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957278", "0957278", "mim:620383", "620383" ] }, { "record_id": "MONDO:0957278", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte/zygote/embryo", "maturation", "arrest", "20", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 20", "oocyte/zygote/embryo maturation arrest", "maturation arrest 20", "oocyte/zygote/embryo maturation arrest 20" ] }, { "record_id": "MONDO:0957278", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957278", "record_type": "disease", "section": "proteins", "phraselist": [ "p00540", "p00540 1", "mos_human", "np_005363", "glycoprotein", "mos", "msv", "ozema20" ] }, { "record_id": "MONDO:0957278", "record_type": "disease", "section": "proteins", "phraselist": [ "proto", "oncogene", "serine/threonine", "protein", "kinase", "mos", "proto oncogene", "oncogene serine/threonine", "serine/threonine protein", "protein kinase", "kinase mos", "proto oncogene serine/threonine", "oncogene serine/threonine protein", "serine/threonine protein kinase", "protein kinase mos", "proto oncogene serine/threonine protein", "oncogene serine/threonine protein kinase", "serine/threonine protein kinase mos", "proto oncogene serine/threonine protein kinase", "oncogene serine/threonine protein kinase mos", "2.7.11.1", "oocyte", "maturation", "factor", "oocyte maturation", "maturation factor", "factor mos", "oocyte maturation factor", "maturation factor mos", "oocyte maturation factor mos", "oncogene c", "c mos", "proto oncogene c", "oncogene c mos", "proto oncogene c mos", "moloney", "murine", "sarcoma", "virus", "oncogene mos", "moloney murine", "murine sarcoma", "sarcoma virus", "mos moloney", "moloney murine sarcoma", "murine sarcoma virus", "oncogene mos moloney", "mos moloney murine", "moloney murine sarcoma virus", "oncogene mos moloney murine", "mos moloney murine sarcoma", "viral", "homolog", "v mos", "sarcoma viral", "viral oncogene", "oncogene homolog", "v mos moloney", "murine sarcoma viral", "sarcoma viral oncogene", "viral oncogene homolog", "v mos moloney murine", "moloney murine sarcoma viral", "murine sarcoma viral oncogene", "sarcoma viral oncogene homolog", "v mos moloney murine sarcoma", "mos moloney murine sarcoma viral", "moloney murine sarcoma viral oncogene", "murine sarcoma viral oncogene homolog" ] }, { "record_id": "MONDO:0957279", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957279", "0957279", "mim:620384", "620384" ] }, { "record_id": "MONDO:0957279", "record_type": "disease", "section": "disease_name", "phraselist": [ "auditory", "neuropathy", "autosomal", "dominant", "auditory neuropathy", "autosomal dominant", "dominant 2", "neuropathy autosomal", "autosomal dominant 2", "auditory neuropathy autosomal", "neuropathy autosomal dominant", "auditory neuropathy autosomal dominant", "neuropathy autosomal dominant 2" ] }, { "record_id": "MONDO:0957279", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957279", "record_type": "disease", "section": "proteins", "phraselist": [ "p98196", "p98196 1", "at11a_human", "np_056020", "atp11a", "atpih", "atpis", "auna2", "dfna84", "hld24", "kiaa1021" ] }, { "record_id": "MONDO:0957279", "record_type": "disease", "section": "proteins", "phraselist": [ "phospholipid", "transporting", "atpase", "ih", "phospholipid transporting", "transporting atpase", "atpase ih", "phospholipid transporting atpase", "transporting atpase ih", "phospholipid transporting atpase ih", "7.6.2.1", "is", "atpase is", "class", "vi", "type", "11a", "atpase class", "class vi", "vi type", "type 11a", "atpase class vi", "class vi type", "vi type 11a", "atpase class vi type", "class vi type 11a", "atpase class vi type 11a", "p4", "flippase", "complex", "alpha", "subunit", "atp11a", "p4 atpase", "atpase flippase", "flippase complex", "complex alpha", "alpha subunit", "subunit atp11a", "p4 atpase flippase", "atpase flippase complex", "flippase complex alpha", "complex alpha subunit", "alpha subunit atp11a", "p4 atpase flippase complex", "atpase flippase complex alpha", "flippase complex alpha subunit", "complex alpha subunit atp11a", "p4 atpase flippase complex alpha", "atpase flippase complex alpha subunit", "flippase complex alpha subunit atp11a", "translocating", "phospholipid translocating", "translocating atpase", "phospholipid translocating atpase", "isoform", "ih isoform", "isoform a", "atpase ih isoform", "ih isoform a", "transporting atpase ih isoform", "atpase ih isoform a", "phospholipid transporting atpase ih isoform", "transporting atpase ih isoform a", "potential", "potential phospholipid", "potential phospholipid transporting", "potential phospholipid transporting atpase", "potential phospholipid transporting atpase ih", "probable", "probable phospholipid", "probable phospholipid transporting", "probable phospholipid transporting atpase", "probable phospholipid transporting atpase ih" ] }, { "record_id": "MONDO:0957288", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957288", "0957288", "mim:620393", "620393" ] }, { "record_id": "MONDO:0957288", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "autosomal", "recessive", "79", "intellectual developmental", "developmental disorder", "autosomal recessive", "recessive 79", "intellectual developmental disorder", "disorder autosomal", "autosomal recessive 79", "developmental disorder autosomal", "disorder autosomal recessive", "intellectual developmental disorder autosomal", "developmental disorder autosomal recessive", "disorder autosomal recessive 79" ] }, { "record_id": "MONDO:0957288", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957288", "record_type": "disease", "section": "proteins", "phraselist": [ "p12270", "p12270 1", "tpr_human", "np_003283", "glycoprotein", "tpr", "mrt79" ] }, { "record_id": "MONDO:0957288", "record_type": "disease", "section": "proteins", "phraselist": [ "nucleoprotein", "tpr", "nucleoprotein tpr", "megator", "npc", "associated", "intranuclear", "protein", "npc associated", "associated intranuclear", "intranuclear protein", "npc associated intranuclear", "associated intranuclear protein", "npc associated intranuclear protein", "translocated", "promoter", "region", "translocated promoter", "promoter region", "region protein", "translocated promoter region", "promoter region protein", "translocated promoter region protein", "nuclear", "pore", "complex", "nuclear pore", "pore complex", "complex associated", "associated protein", "protein tpr", "nuclear pore complex", "pore complex associated", "complex associated protein", "associated protein tpr", "nuclear pore complex associated", "pore complex associated protein", "complex associated protein tpr", "nuclear pore complex associated protein", "pore complex associated protein tpr", "to", "activated", "met", "oncogene", "to activated", "activated met", "met oncogene", "region to", "to activated met", "activated met oncogene", "promoter region to", "region to activated", "to activated met oncogene", "translocated promoter region to", "promoter region to activated", "region to activated met", "tumor", "potentiating", "tumor potentiating", "potentiating region", "tumor potentiating region" ] }, { "record_id": "MONDO:0957294", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957294", "0957294", "mim:620400", "620400" ] }, { "record_id": "MONDO:0957294", "record_type": "disease", "section": "disease_name", "phraselist": [ "pulmonary", "fibrosis", "and/or", "bone", "marrow", "failure", "syndrome", "telomere", "related", "pulmonary fibrosis", "fibrosis and/or", "and/or bone", "bone marrow", "marrow failure", "failure syndrome", "telomere related", "pulmonary fibrosis and/or", "fibrosis and/or bone", "and/or bone marrow", "bone marrow failure", "marrow failure syndrome", "syndrome telomere", "related 9", "pulmonary fibrosis and/or bone", "fibrosis and/or bone marrow", "and/or bone marrow failure", "bone marrow failure syndrome", "failure syndrome telomere", "syndrome telomere related", "telomere related 9", "pulmonary fibrosis and/or bone marrow", "fibrosis and/or bone marrow failure", "and/or bone marrow failure syndrome", "marrow failure syndrome telomere", "failure syndrome telomere related" ] }, { "record_id": "MONDO:0957294", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957294", "record_type": "disease", "section": "proteins", "phraselist": [ "q9npe3", "q9npe3 1", "nop10_human", "np_061118", "glycoprotein", "nop10", "chine2", "dkcb1", "nola3", "nop10p", "pfbmft9" ] }, { "record_id": "MONDO:0957294", "record_type": "disease", "section": "proteins", "phraselist": [ "h/aca", "ribonucleoprotein", "complex", "subunit", "h/aca ribonucleoprotein", "ribonucleoprotein complex", "complex subunit", "subunit 3", "h/aca ribonucleoprotein complex", "ribonucleoprotein complex subunit", "complex subunit 3", "h/aca ribonucleoprotein complex subunit", "ribonucleoprotein complex subunit 3", "h/aca ribonucleoprotein complex subunit 3", "nop10", "homolog", "nop10 ribonucleoprotein", "ribonucleoprotein homolog", "nop10 ribonucleoprotein homolog", "nucleolar", "protein", "10", "nucleolar protein", "protein 10", "nucleolar protein 10", "family", "member", "protein family", "family a", "a member", "member 3", "nucleolar protein family", "protein family a", "family a member", "a member 3", "nucleolar protein family a", "protein family a member", "family a member 3", "nucleolar protein family a member", "protein family a member 3", "of", "yeast", "nop10p", "homolog of", "of yeast", "yeast nop10p", "homolog of yeast", "of yeast nop10p", "homolog of yeast nop10p", "small", "rnps", "h/aca small", "small nucleolar", "nucleolar rnps", "3 h/aca", "h/aca small nucleolar", "small nucleolar rnps", "member 3 h/aca", "3 h/aca small", "h/aca small nucleolar rnps", "member 3 h/aca small", "3 h/aca small nucleolar", "snornp", "snornp protein", "protein nop10", "snornp protein nop10" ] }, { "record_id": "MONDO:0957307", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957307", "0957307", "mim:620415", "620415" ] }, { "record_id": "MONDO:0957307", "record_type": "disease", "section": "disease_name", "phraselist": [ "woolly", "hair", "skin", "fragility", "syndrome", "woolly hair", "hair skin", "skin fragility", "fragility syndrome", "woolly hair skin", "hair skin fragility", "skin fragility syndrome", "woolly hair skin fragility", "hair skin fragility syndrome", "woolly hair skin fragility syndrome" ] }, { "record_id": "MONDO:0957307", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957307", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nnx1", "q9nnx1 1", "tuft1_human", "np_001119809", "tuft1", "whsf" ] }, { "record_id": "MONDO:0957307", "record_type": "disease", "section": "proteins", "phraselist": [ "tuftelin", "isoform", "tuftelin isoform", "isoform 2", "tuftelin isoform 2" ] }, { "record_id": "MONDO:0957382", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957382", "0957382", "mim:620423", "620423" ] }, { "record_id": "MONDO:0957382", "record_type": "disease", "section": "disease_name", "phraselist": [ "multiple", "mitochondrial", "dysfunctions", "syndrome", "multiple mitochondrial", "mitochondrial dysfunctions", "dysfunctions syndrome", "syndrome 7", "multiple mitochondrial dysfunctions", "mitochondrial dysfunctions syndrome", "dysfunctions syndrome 7", "multiple mitochondrial dysfunctions syndrome", "mitochondrial dysfunctions syndrome 7", "multiple mitochondrial dysfunctions syndrome 7", "gcsh", "related", "glycine", "encephalopathy", "gcsh related", "related glycine", "glycine encephalopathy", "gcsh related glycine", "related glycine encephalopathy", "gcsh related glycine encephalopathy" ] }, { "record_id": "MONDO:0957396", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957396", "0957396", "mim:620438", "620438" ] }, { "record_id": "MONDO:0957396", "record_type": "disease", "section": "disease_name", "phraselist": [ "ciliary", "dyskinesia", "primary", "51", "ciliary dyskinesia", "dyskinesia primary", "primary 51", "ciliary dyskinesia primary", "dyskinesia primary 51" ] }, { "record_id": "MONDO:0957396", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957396", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nsi6", "q9nsi6 1", "brwd1_human", "np_001007247", "glycoprotein", "brwd1", "c21orf107", "cild51", "dcaf19", "n143", "wdr9", "wrd9" ] }, { "record_id": "MONDO:0957396", "record_type": "disease", "section": "proteins", "phraselist": [ "bromodomain", "and", "wd", "repeat", "containing", "protein", "bromodomain and", "and wd", "wd repeat", "repeat containing", "containing protein", "protein 1", "bromodomain and wd", "and wd repeat", "wd repeat containing", "repeat containing protein", "containing protein 1", "bromodomain and wd repeat", "and wd repeat containing", "wd repeat containing protein", "repeat containing protein 1", "bromodomain and wd repeat containing", "and wd repeat containing protein", "wd repeat containing protein 1", "wdr9", "form2", "repeat protein", "protein wdr9", "wdr9 form2", "wd repeat protein", "repeat protein wdr9", "protein wdr9 form2", "wd repeat protein wdr9", "repeat protein wdr9 form2", "wd repeat protein wdr9 form2", "protein 9", "containing protein 9", "repeat containing protein 9", "wd repeat containing protein 9", "isoform", "1 isoform", "isoform c", "protein 1 isoform", "1 isoform c", "containing protein 1 isoform", "protein 1 isoform c", "repeat containing protein 1 isoform", "containing protein 1 isoform c", "transcriptional", "unit", "n143", "transcriptional unit", "unit n143", "transcriptional unit n143" ] }, { "record_id": "MONDO:0957494", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957494", "0957494", "mim:301109", "301109" ] }, { "record_id": "MONDO:0957494", "record_type": "disease", "section": "disease_name", "phraselist": [ "autoinflammatory", "disease", "multisystem", "with", "immune", "dysregulation", "linked", "autoinflammatory disease", "with immune", "immune dysregulation", "x linked", "disease multisystem", "multisystem with", "with immune dysregulation", "dysregulation x", "autoinflammatory disease multisystem", "multisystem with immune", "immune dysregulation x", "dysregulation x linked", "disease multisystem with", "multisystem with immune dysregulation", "with immune dysregulation x", "immune dysregulation x linked" ] }, { "record_id": "MONDO:0957494", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957494", "record_type": "disease", "section": "proteins", "phraselist": [ "q5jsl3", "q5jsl3 1", "doc11_human", "np_653259", "glycoprotein", "dock11", "acg", "admidx", "ziz2", "bb128o4.1" ] }, { "record_id": "MONDO:0957494", "record_type": "disease", "section": "proteins", "phraselist": [ "dedicator", "of", "cytokinesis", "protein", "11", "dedicator of", "of cytokinesis", "cytokinesis protein", "protein 11", "dedicator of cytokinesis", "of cytokinesis protein", "cytokinesis protein 11", "dedicator of cytokinesis protein", "of cytokinesis protein 11", "dedicator of cytokinesis protein 11", "acg", "activated", "cdc42", "associated", "guanine", "nucleotide", "exchange", "factor", "activated cdc42", "cdc42 associated", "associated guanine", "guanine nucleotide", "nucleotide exchange", "exchange factor", "activated cdc42 associated", "cdc42 associated guanine", "associated guanine nucleotide", "guanine nucleotide exchange", "nucleotide exchange factor", "factor acg", "activated cdc42 associated guanine", "cdc42 associated guanine nucleotide", "associated guanine nucleotide exchange", "guanine nucleotide exchange factor", "exchange factor acg", "activated cdc42 associated guanine nucleotide", "cdc42 associated guanine nucleotide exchange", "associated guanine nucleotide exchange factor", "nucleotide exchange factor acg", "zizimin", "zizimin 2", "zizimin2" ] }, { "record_id": "MONDO:0957495", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957495", "0957495", "mim:301110", "301110" ] }, { "record_id": "MONDO:0957495", "record_type": "disease", "section": "disease_name", "phraselist": [ "hemolytic", "uremic", "syndrome", "atypical", "with", "rhizomelic", "short", "stature", "hemolytic uremic", "uremic syndrome", "with rhizomelic", "rhizomelic short", "short stature", "hemolytic uremic syndrome", "syndrome atypical", "atypical 8", "8 with", "with rhizomelic short", "rhizomelic short stature", "uremic syndrome atypical", "8 with rhizomelic", "with rhizomelic short stature", "hemolytic uremic syndrome atypical", "syndrome atypical 8", "atypical 8 with", "8 with rhizomelic short" ] }, { "record_id": "MONDO:0957495", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957495", "record_type": "disease", "section": "proteins", "phraselist": [ "q96eu7", "q96eu7 1", "c1glc_human", "np_001011551", "c1galt1c1", "ahus8", "c1galt2", "c38h2", "l1", "c38h2 l1", "cosmc", "hspc067", "mst143", "mstp143", "pro310", "tnps" ] }, { "record_id": "MONDO:0957495", "record_type": "disease", "section": "proteins", "phraselist": [ "c1galt1", "specific", "chaperone", "c1galt1 specific", "specific chaperone", "chaperone 1", "c1galt1 specific chaperone", "specific chaperone 1", "c1galt1 specific chaperone 1", "c1gal", "t2", "c1gal t2", "c1galt2", "c38h2", "l1", "c38h2 l1", "like", "protein", "c38h2 like", "like protein", "protein 1", "c38h2 like protein", "like protein 1", "c38h2 like protein 1", "core", "beta1", "galactosyltransferase", "core 1", "1 beta1", "beta1 3", "3 galactosyltransferase", "galactosyltransferase 2", "core 1 beta1", "1 beta1 3", "beta1 3 galactosyltransferase", "3 galactosyltransferase 2", "core 1 beta1 3", "1 beta1 3 galactosyltransferase", "beta1 3 galactosyltransferase 2", "core 1 beta1 3 galactosyltransferase", "1 beta1 3 galactosyltransferase 2", "beta3", "gal", "1 beta3", "beta3 gal", "gal t2", "core 1 beta3", "1 beta3 gal", "beta3 gal t2", "core 1 beta3 gal", "1 beta3 gal t2", "core 1 beta3 gal t2", "molecular", "beta3 galactosyltransferase", "galactosyltransferase specific", "specific molecular", "molecular chaperone", "1 beta3 galactosyltransferase", "beta3 galactosyltransferase specific", "galactosyltransferase specific molecular", "specific molecular chaperone", "core 1 beta3 galactosyltransferase", "1 beta3 galactosyltransferase specific", "beta3 galactosyltransferase specific molecular", "galactosyltransferase specific molecular chaperone", "core 1 beta3 galactosyltransferase specific", "1 beta3 galactosyltransferase specific molecular", "beta3 galactosyltransferase specific molecular chaperone", "beta", "beta 1", "1 3", "beta 1 3", "1 3 galactosyltransferase", "beta 1 3 galactosyltransferase", "1 3 galactosyltransferase 2", "beta 1 3 galactosyltransferase 2", "gal t", "t specific", "beta3 gal t", "gal t specific", "t specific molecular", "1 beta3 gal t", "beta3 gal t specific", "gal t specific molecular", "t specific molecular chaperone", "core 1 beta3 gal t", "1 beta3 gal t specific", "beta3 gal t specific molecular", "gal t specific molecular chaperone" ] }, { "record_id": "MONDO:0957496", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957496", "0957496", "mim:301111", "301111" ] }, { "record_id": "MONDO:0957496", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "linked", "112", "intellectual developmental", "developmental disorder", "x linked", "linked 112", "intellectual developmental disorder", "disorder x", "x linked 112", "developmental disorder x", "disorder x linked", "intellectual developmental disorder x", "developmental disorder x linked", "disorder x linked 112" ] }, { "record_id": "MONDO:0957496", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957496", "record_type": "disease", "section": "proteins", "phraselist": [ "q14202", "q14202 1", "zmym3_human", "np_001164633", "glycoprotein", "zmym3", "dxs6673e", "kiaa0385", "mym", "xfim", "xlid112", "znf198l2", "znf261" ] }, { "record_id": "MONDO:0957496", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "mym", "type", "protein", "zinc finger", "finger mym", "mym type", "type protein", "protein 3", "zinc finger mym", "finger mym type", "mym type protein", "type protein 3", "zinc finger mym type", "finger mym type protein", "mym type protein 3", "zinc finger mym type protein", "finger mym type protein 3", "261", "finger protein", "protein 261", "zinc finger protein", "finger protein 261", "zinc finger protein 261", "isoform", "3 isoform", "isoform 2", "protein 3 isoform", "3 isoform 2", "type protein 3 isoform", "protein 3 isoform 2", "mym type protein 3 isoform", "type protein 3 isoform 2", "type 3", "mym type 3", "finger mym type 3" ] }, { "record_id": "MONDO:0957530", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957530", "0957530", "mim:620442", "620442" ] }, { "record_id": "MONDO:0957530", "record_type": "disease", "section": "disease_name", "phraselist": [ "breast", "ovarian", "cancer", "familial", "susceptibility", "to", "breast ovarian", "ovarian cancer", "susceptibility to", "breast ovarian cancer", "cancer familial", "familial susceptibility", "to 5", "ovarian cancer familial", "familial susceptibility to", "susceptibility to 5", "breast ovarian cancer familial", "cancer familial susceptibility", "familial 5", "cancer familial 5" ] }, { "record_id": "MONDO:0957530", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957530", "record_type": "disease", "section": "proteins", "phraselist": [ "q86yc2", "q86yc2 1", "palb2_human", "np_078951", "glycoprotein", "palb2", "brovca5", "fancn", "pnca3" ] }, { "record_id": "MONDO:0957530", "record_type": "disease", "section": "proteins", "phraselist": [ "partner", "and", "localizer", "of", "brca2", "partner and", "and localizer", "localizer of", "of brca2", "partner and localizer", "and localizer of", "localizer of brca2", "partner and localizer of", "and localizer of brca2", "partner and localizer of brca2", "mutant", "mutant partner", "mutant partner and", "mutant partner and localizer", "mutant partner and localizer of", "isoform", "brca2 isoform", "isoform 1", "of brca2 isoform", "brca2 isoform 1", "localizer of brca2 isoform", "of brca2 isoform 1", "and localizer of brca2 isoform", "localizer of brca2 isoform 1" ] }, { "record_id": "MONDO:0957531", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957531", "0957531", "mim:620445", "620445" ] }, { "record_id": "MONDO:0957531", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "microcephaly", "and", "movement", "abnormalities", "neurodevelopmental disorder", "disorder with", "with microcephaly", "microcephaly and", "and movement", "movement abnormalities", "neurodevelopmental disorder with", "disorder with microcephaly", "with microcephaly and", "microcephaly and movement", "and movement abnormalities", "neurodevelopmental disorder with microcephaly", "disorder with microcephaly and", "with microcephaly and movement", "microcephaly and movement abnormalities", "neurodevelopmental disorder with microcephaly and", "disorder with microcephaly and movement", "with microcephaly and movement abnormalities" ] }, { "record_id": "MONDO:0957531", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957531", "record_type": "disease", "section": "proteins", "phraselist": [ "o43156", "o43156 1", "tti1_human", "np_001290386", "glycoprotein", "tti1", "kiaa0406", "nedmim", "smg10", "smg", "10", "smg 10" ] }, { "record_id": "MONDO:0957531", "record_type": "disease", "section": "proteins", "phraselist": [ "telo2", "interacting", "protein", "homolog", "telo2 interacting", "interacting protein", "protein 1", "1 homolog", "telo2 interacting protein", "interacting protein 1", "protein 1 homolog", "telo2 interacting protein 1", "interacting protein 1 homolog", "telo2 interacting protein 1 homolog", "smg10", "protein smg10", "tel2", "tel2 interacting", "tel2 interacting protein", "tel2 interacting protein 1", "tel2 interacting protein 1 homolog", "tel", "two", "tel two", "two interacting", "tel two interacting", "two interacting protein", "tel two interacting protein", "two interacting protein 1", "tel two interacting protein 1", "smg", "10", "nonsense", "mediated", "mrna", "decay", "factor", "smg 10", "10 homolog", "nonsense mediated", "mediated mrna", "mrna decay", "decay factor", "smg 10 homolog", "homolog nonsense", "nonsense mediated mrna", "mediated mrna decay", "mrna decay factor", "10 homolog nonsense", "homolog nonsense mediated", "nonsense mediated mrna decay", "mediated mrna decay factor", "smg 10 homolog nonsense", "10 homolog nonsense mediated", "homolog nonsense mediated mrna", "nonsense mediated mrna decay factor" ] }, { "record_id": "MONDO:0957533", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957533", "0957533", "mim:620447", "620447" ] }, { "record_id": "MONDO:0957533", "record_type": "disease", "section": "disease_name", "phraselist": [ "megalencephalic", "leukoencephalopathy", "with", "subcortical", "cysts", "megalencephalic leukoencephalopathy", "leukoencephalopathy with", "with subcortical", "subcortical cysts", "cysts 3", "megalencephalic leukoencephalopathy with", "leukoencephalopathy with subcortical", "with subcortical cysts", "subcortical cysts 3", "megalencephalic leukoencephalopathy with subcortical", "leukoencephalopathy with subcortical cysts", "with subcortical cysts 3", "megalencephalic leukoencephalopathy with subcortical cysts", "leukoencephalopathy with subcortical cysts 3" ] }, { "record_id": "MONDO:0957533", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957533", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nzh0", "q9nzh0 1", "gpc5b_human", "np_057319", "glycoprotein", "gprc5b", "mlc3", "raig", "raig 2", "raig2" ] }, { "record_id": "MONDO:0957533", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "coupled", "receptor", "family", "group", "member", "g protein", "protein coupled", "coupled receptor", "receptor family", "family c", "c group", "group 5", "5 member", "member b", "g protein coupled", "protein coupled receptor", "coupled receptor family", "receptor family c", "family c group", "c group 5", "group 5 member", "5 member b", "g protein coupled receptor", "protein coupled receptor family", "coupled receptor family c", "receptor family c group", "family c group 5", "c group 5 member", "group 5 member b", "g protein coupled receptor family", "protein coupled receptor family c", "coupled receptor family c group", "receptor family c group 5", "family c group 5 member", "c group 5 member b", "69g12.1", "a 69g12.1", "group 1", "1 member", "c group 1", "group 1 member", "1 member b", "family c group 1", "group 1 member b", "isoform", "precursor", "b isoform", "isoform 1", "1 precursor", "member b isoform", "b isoform 1", "isoform 1 precursor", "5 member b isoform", "member b isoform 1", "b isoform 1 precursor", "group 5 member b isoform", "5 member b isoform 1", "member b isoform 1 precursor", "raig", "raig 2", "retinoic", "acid", "induced", "gene", "retinoic acid", "acid induced", "induced gene", "gene 2", "2 protein", "retinoic acid induced", "acid induced gene", "induced gene 2", "gene 2 protein", "retinoic acid induced gene", "acid induced gene 2", "induced gene 2 protein", "retinoic acid induced gene 2", "acid induced gene 2 protein", "responsive", "acid responsive", "responsive gene", "gene protein", "retinoic acid responsive", "acid responsive gene", "responsive gene protein", "retinoic acid responsive gene", "acid responsive gene protein", "retinoic acid responsive gene protein" ] }, { "record_id": "MONDO:0957534", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957534", "0957534", "mim:620448", "620448" ] }, { "record_id": "MONDO:0957534", "record_type": "disease", "section": "disease_name", "phraselist": [ "megalencephalic", "leukoencephalopathy", "with", "subcortical", "cysts", "remitting", "megalencephalic leukoencephalopathy", "leukoencephalopathy with", "with subcortical", "subcortical cysts", "cysts 4", "megalencephalic leukoencephalopathy with", "leukoencephalopathy with subcortical", "with subcortical cysts", "subcortical cysts 4", "4 remitting", "megalencephalic leukoencephalopathy with subcortical", "leukoencephalopathy with subcortical cysts", "with subcortical cysts 4", "cysts 4 remitting", "megalencephalic leukoencephalopathy with subcortical cysts", "leukoencephalopathy with subcortical cysts 4", "subcortical cysts 4 remitting" ] }, { "record_id": "MONDO:0957534", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957534", "record_type": "disease", "section": "proteins", "phraselist": [ "p55087", "p55087 1", "aqp4_human", "np_001641", "glycoprotein", "aqp4", "miwc", "mlc4", "wch4", "haqp4" ] }, { "record_id": "MONDO:0957534", "record_type": "disease", "section": "proteins", "phraselist": [ "aquaporin", "aquaporin 4", "aqp", "aqp 4", "miwc", "mercurial", "insensitive", "water", "channel", "mercurial insensitive", "insensitive water", "water channel", "mercurial insensitive water", "insensitive water channel", "mercurial insensitive water channel", "wch4", "type4", "aquaporin type4", "isoform", "m1", "4 isoform", "isoform m1", "aquaporin 4 isoform", "4 isoform m1", "aquaporin 4 isoform m1" ] }, { "record_id": "MONDO:0957537", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957537", "0957537", "mim:620451", "620451" ] }, { "record_id": "MONDO:0957537", "record_type": "disease", "section": "disease_name", "phraselist": [ "combined", "oxidative", "phosphorylation", "deficiency", "58", "combined oxidative", "oxidative phosphorylation", "phosphorylation deficiency", "deficiency 58", "combined oxidative phosphorylation", "oxidative phosphorylation deficiency", "phosphorylation deficiency 58", "combined oxidative phosphorylation deficiency", "oxidative phosphorylation deficiency 58", "combined oxidative phosphorylation deficiency 58" ] }, { "record_id": "MONDO:0957537", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957537", "record_type": "disease", "section": "proteins", "phraselist": [ "q96qe5", "q96qe5 1", "tefm_human", "np_078959", "glycoprotein", "tefm", "c17orf42", "coxpd58" ] }, { "record_id": "MONDO:0957537", "record_type": "disease", "section": "proteins", "phraselist": [ "transcription", "elongation", "factor", "mitochondrial", "transcription elongation", "elongation factor", "transcription elongation factor", "factor mitochondrial", "elongation factor mitochondrial", "transcription elongation factor mitochondrial", "of", "mitochondria", "factor of", "of mitochondria", "elongation factor of", "factor of mitochondria", "transcription elongation factor of", "elongation factor of mitochondria", "transcription elongation factor of mitochondria" ] }, { "record_id": "MONDO:0957540", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957540", "0957540", "mim:620454", "620454" ] }, { "record_id": "MONDO:0957540", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "disorder", "of", "glycosylation", "type", "iiaa", "congenital disorder", "disorder of", "of glycosylation", "type iiaa", "congenital disorder of", "disorder of glycosylation", "glycosylation type", "congenital disorder of glycosylation", "of glycosylation type", "glycosylation type iiaa", "disorder of glycosylation type", "of glycosylation type iiaa", "2aa", "glycosylation 2aa", "of glycosylation 2aa", "disorder of glycosylation 2aa", "congenital disorder of glycosylation 2aa" ] }, { "record_id": "MONDO:0957540", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957540", "record_type": "disease", "section": "proteins", "phraselist": [ "q13190", "q13190 1", "stx5_human", "np_001231595", "glycoprotein", "stx5", "cdg2aa", "sed5", "stx5a" ] }, { "record_id": "MONDO:0957540", "record_type": "disease", "section": "proteins", "phraselist": [ "syntaxin", "syntaxin 5", "5a", "syntaxin 5a", "isoform", "5 isoform", "isoform 2", "syntaxin 5 isoform", "5 isoform 2", "syntaxin 5 isoform 2" ] }, { "record_id": "MONDO:0957543", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957543", "0957543", "mim:620457", "620457" ] }, { "record_id": "MONDO:0957543", "record_type": "disease", "section": "disease_name", "phraselist": [ "auriculocondylar", "syndrome", "auriculocondylar syndrome", "syndrome 4", "auriculocondylar syndrome 4" ] }, { "record_id": "MONDO:0957543", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957543", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ukv0", "q9ukv0 1", "hdac9_human", "np_001191073", "glycoprotein", "hdac9", "hd7b", "hd7", "hd9", "hdac7b", "hdac7", "hdac9b", "hdac9fl", "hdac", "hdrp", "kiaa0744", "mitr" ] }, { "record_id": "MONDO:0957543", "record_type": "disease", "section": "proteins", "phraselist": [ "histone", "deacetylase", "histone deacetylase", "deacetylase 9", "histone deacetylase 9", "3.5.1.98", "hd7b", "hd7", "hd9", "7b", "deacetylase 7b", "histone deacetylase 7b", "related", "protein", "deacetylase related", "related protein", "histone deacetylase related", "deacetylase related protein", "histone deacetylase related protein", "mef", "interacting", "transcription", "repressor", "mitr", "mef 2", "2 interacting", "interacting transcription", "transcription repressor", "mef 2 interacting", "2 interacting transcription", "interacting transcription repressor", "repressor mitr", "mitr protein", "mef 2 interacting transcription", "2 interacting transcription repressor", "transcription repressor mitr", "mef 2 interacting transcription repressor", "interacting transcription repressor mitr", "repressor mitr protein", "mef2", "mef2 interacting", "mef2 interacting transcription", "mef2 interacting transcription repressor", "mef2 interacting transcription repressor mitr", "4/5", "deacetylase 4/5", "4/5 related", "histone deacetylase 4/5", "deacetylase 4/5 related", "4/5 related protein", "histone deacetylase 4/5 related", "deacetylase 4/5 related protein", "histone deacetylase 4/5 related protein", "isoform", "precursor", "9 isoform", "isoform 6", "6 precursor", "deacetylase 9 isoform", "9 isoform 6", "isoform 6 precursor", "histone deacetylase 9 isoform", "deacetylase 9 isoform 6", "9 isoform 6 precursor", "histone deacetylase 9 isoform 6", "deacetylase 9 isoform 6 precursor" ] }, { "record_id": "MONDO:0957544", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957544", "0957544", "mim:620458", "620458" ] }, { "record_id": "MONDO:0957544", "record_type": "disease", "section": "disease_name", "phraselist": [ "auriculocondylar", "syndrome", "2b", "auriculocondylar syndrome", "syndrome 2b", "auriculocondylar syndrome 2b" ] }, { "record_id": "MONDO:0957544", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957544", "record_type": "disease", "section": "proteins", "phraselist": [ "q15147", "q15147 1", "plcb4_human", "np_000924", "glycoprotein", "plcb4", "arcnd2a", "arcnd2b", "arcnd2", "pi", "plc", "pi plc" ] }, { "record_id": "MONDO:0957544", "record_type": "disease", "section": "proteins", "phraselist": [ "phosphatidylinositol", "bisphosphate", "phosphodiesterase", "beta", "1 phosphatidylinositol", "phosphatidylinositol 4", "4 5", "5 bisphosphate", "bisphosphate phosphodiesterase", "phosphodiesterase beta", "beta 4", "1 phosphatidylinositol 4", "phosphatidylinositol 4 5", "4 5 bisphosphate", "5 bisphosphate phosphodiesterase", "bisphosphate phosphodiesterase beta", "phosphodiesterase beta 4", "1 phosphatidylinositol 4 5", "phosphatidylinositol 4 5 bisphosphate", "4 5 bisphosphate phosphodiesterase", "5 bisphosphate phosphodiesterase beta", "bisphosphate phosphodiesterase beta 4", "1 phosphatidylinositol 4 5 bisphosphate", "phosphatidylinositol 4 5 bisphosphate phosphodiesterase", "4 5 bisphosphate phosphodiesterase beta", "5 bisphosphate phosphodiesterase beta 4", "phosphatidyl", "myo", "inositol", "1 phosphatidyl", "phosphatidyl d", "d myo", "myo inositol", "inositol 4", "1 phosphatidyl d", "phosphatidyl d myo", "d myo inositol", "myo inositol 4", "inositol 4 5", "1 phosphatidyl d myo", "phosphatidyl d myo inositol", "d myo inositol 4", "myo inositol 4 5", "inositol 4 5 bisphosphate", "1 phosphatidyl d myo inositol", "phosphatidyl d myo inositol 4", "d myo inositol 4 5", "myo inositol 4 5 bisphosphate", "isoform", "4 isoform", "isoform a", "beta 4 isoform", "4 isoform a", "phosphodiesterase beta 4 isoform", "beta 4 isoform a", "bisphosphate phosphodiesterase beta 4 isoform", "phosphodiesterase beta 4 isoform a", "3.1.4.11", "plc", "plc beta", "plc beta 4", "phosphoinositide", "phospholipase", "phosphoinositide phospholipase", "phospholipase c", "c beta", "phosphoinositide phospholipase c", "phospholipase c beta", "c beta 4", "phosphoinositide phospholipase c beta", "phospholipase c beta 4", "phosphoinositide phospholipase c beta 4", "dj1119d9.2", "phopholipase", "phopholipase c", "dj1119d9.2 phopholipase", "4 1", "dj1119d9.2 phopholipase c", "phopholipase c beta", "beta 4 1", "4 1 phosphatidylinositol", "phopholipase c beta 4", "beta 4 1 phosphatidylinositol", "4 1 phosphatidylinositol 4", "inositoltrisphosphohydrolase", "monophosphatidylinositol", "monophosphatidylinositol phosphodiesterase", "phosphoinositidase", "phosphoinositidase c", "triphosphoinositide", "triphosphoinositide phosphodiesterase" ] }, { "record_id": "MONDO:0957545", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957545", "0957545", "mim:620462", "620462" ] }, { "record_id": "MONDO:0957545", "record_type": "disease", "section": "disease_name", "phraselist": [ "cardiomyopathy", "dilated", "2i", "cardiomyopathy dilated", "dilated 2i", "cardiomyopathy dilated 2i" ] }, { "record_id": "MONDO:0957545", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957545", "record_type": "disease", "section": "proteins", "phraselist": [ "p40123", "p40123 1", "cap2_human", "np_006357", "glycoprotein", "cap2", "cmd2i" ] }, { "record_id": "MONDO:0957545", "record_type": "disease", "section": "proteins", "phraselist": [ "adenylyl", "cyclase", "associated", "protein", "adenylyl cyclase", "cyclase associated", "associated protein", "protein 2", "adenylyl cyclase associated", "cyclase associated protein", "associated protein 2", "adenylyl cyclase associated protein", "cyclase associated protein 2", "adenylyl cyclase associated protein 2", "2810452g09rik", "cap", "cap 2", "adenylate", "adenylate cyclase", "cap adenylate", "adenylate cyclase associated", "cap adenylate cyclase", "adenylate cyclase associated protein", "cap adenylate cyclase associated", "isoform", "2 isoform", "isoform 1", "protein 2 isoform", "2 isoform 1", "associated protein 2 isoform", "protein 2 isoform 1", "cyclase associated protein 2 isoform", "associated protein 2 isoform 1" ] }, { "record_id": "MONDO:0957561", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957561", "0957561", "mim:620461", "620461" ] }, { "record_id": "MONDO:0957561", "record_type": "disease", "section": "disease_name", "phraselist": [ "encephalitis", "acute", "infection", "induced", "susceptibility", "to", "12", "infection induced", "susceptibility to", "encephalitis acute", "acute infection", "induced susceptibility", "to 12", "acute infection induced", "infection induced susceptibility", "induced susceptibility to", "susceptibility to 12", "encephalitis acute infection", "infection induced susceptibility to", "induced 12", "infection induced 12" ] }, { "record_id": "MONDO:0957561", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957561", "record_type": "disease", "section": "proteins", "phraselist": [ "p13489", "p13489 1", "rini_human", "np_002930", "glycoprotein", "rnh1", "iiae12", "pri", "rai", "rnh" ] }, { "record_id": "MONDO:0957561", "record_type": "disease", "section": "proteins", "phraselist": [ "ribonuclease", "inhibitor", "ribonuclease inhibitor", "placental", "rnase", "placental rnase", "rnase inhibitor", "placental rnase inhibitor", "placental ribonuclease", "placental ribonuclease inhibitor", "rai", "ribonuclease/angiogenin", "ribonuclease/angiogenin inhibitor", "inhibitor 1", "ribonuclease/angiogenin inhibitor 1", "testicular", "tissue", "protein", "li", "164", "testicular tissue", "tissue protein", "protein li", "li 164", "testicular tissue protein", "tissue protein li", "protein li 164", "testicular tissue protein li", "tissue protein li 164", "testicular tissue protein li 164" ] }, { "record_id": "MONDO:0957563", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957563", "0957563", "mim:620469", "620469" ] }, { "record_id": "MONDO:0957563", "record_type": "disease", "section": "disease_name", "phraselist": [ "cranial", "dysinnervation", "disorder", "congenital", "with", "absent", "corneal", "reflex", "and", "developmental", "delay", "cranial dysinnervation", "dysinnervation disorder", "with absent", "absent corneal", "corneal reflex", "reflex and", "and developmental", "developmental delay", "cranial dysinnervation disorder", "disorder congenital", "congenital with", "with absent corneal", "absent corneal reflex", "corneal reflex and", "reflex and developmental", "and developmental delay", "dysinnervation disorder congenital", "congenital with absent", "with absent corneal reflex", "absent corneal reflex and", "corneal reflex and developmental", "reflex and developmental delay", "cranial dysinnervation disorder congenital", "disorder congenital with", "congenital with absent corneal", "with absent corneal reflex and", "absent corneal reflex and developmental", "corneal reflex and developmental delay" ] }, { "record_id": "MONDO:0957563", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957563", "record_type": "disease", "section": "proteins", "phraselist": [ "q92886", "q92886 1", "ngn1_human", "np_006152", "neurog1", "aka", "bhlha6", "ccddrd", "math4c", "neurod3", "ngn1", "ngn" ] }, { "record_id": "MONDO:0957563", "record_type": "disease", "section": "proteins", "phraselist": [ "neurogenin", "neurogenin 1", "class", "basic", "helix", "loop", "protein", "class a", "a basic", "basic helix", "helix loop", "loop helix", "helix protein", "protein 6", "class a basic", "a basic helix", "basic helix loop", "helix loop helix", "loop helix protein", "helix protein 6", "class a basic helix", "a basic helix loop", "basic helix loop helix", "helix loop helix protein", "loop helix protein 6", "class a basic helix loop", "a basic helix loop helix", "basic helix loop helix protein", "helix loop helix protein 6", "ngn", "ngn 1", "neurod3", "neurogenic", "neurogenic basic", "neurogenic basic helix", "neurogenic basic helix loop", "neurogenic basic helix loop helix", "differentiation", "factor", "neurogenic differentiation", "differentiation factor", "factor 3", "neurogenic differentiation factor", "differentiation factor 3", "neurogenic differentiation factor 3", "bhlha6", "differentiation 3", "neurogenic differentiation 3" ] }, { "record_id": "MONDO:0957564", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957564", "0957564", "mim:620470", "620470" ] }, { "record_id": "MONDO:0957564", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "smooth", "muscle", "hamartoma", "with", "or", "without", "hemihypertrophy", "congenital smooth", "smooth muscle", "muscle hamartoma", "with or", "or without", "without hemihypertrophy", "congenital smooth muscle", "smooth muscle hamartoma", "hamartoma with", "with or without", "or without hemihypertrophy", "congenital smooth muscle hamartoma", "muscle hamartoma with", "hamartoma with or", "with or without hemihypertrophy", "smooth muscle hamartoma with", "muscle hamartoma with or", "hamartoma with or without" ] }, { "record_id": "MONDO:0957564", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957564", "record_type": "disease", "section": "proteins", "phraselist": [ "p60709", "p60709 1", "actb_human", "np_001092", "glycoprotein", "actb", "bkrns", "bns", "brws1", "csmh", "dds1", "ps1tp5bp1", "thc8" ] }, { "record_id": "MONDO:0957564", "record_type": "disease", "section": "proteins", "phraselist": [ "actin", "cytoplasmic", "cytoplasmic 1", "actin cytoplasmic", "actin cytoplasmic 1", "3.6.4.", "beta", "beta actin", "i 2", "2 actin", "i 2 actin", "ps1tp5", "binding", "protein", "ps1tp5 binding", "binding protein", "protein 1", "ps1tp5 binding protein", "binding protein 1", "ps1tp5 binding protein 1", "cytoskeletal", "beta cytoskeletal", "cytoskeletal actin", "beta cytoskeletal actin" ] }, { "record_id": "MONDO:0957572", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957572", "0957572", "mim:620478", "620478" ] }, { "record_id": "MONDO:0957572", "record_type": "disease", "section": "disease_name", "phraselist": [ "thrombocytopenia", "thrombocytopenia 9" ] }, { "record_id": "MONDO:0957572", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957572", "record_type": "disease", "section": "proteins", "phraselist": [ "p40225", "p40225 1", "tpo_human", "np_001276926", "glycoprotein", "thpo", "camt2", "mgdf", "mkcsf", "ml", "mpllg", "thc9", "thcyt1", "tpo" ] }, { "record_id": "MONDO:0957572", "record_type": "disease", "section": "proteins", "phraselist": [ "thrombopoietin", "mpl", "ligand", "c mpl", "mpl ligand", "c mpl ligand", "mgdf", "ml", "megakaryocyte", "colony", "stimulating", "factor", "megakaryocyte colony", "colony stimulating", "stimulating factor", "megakaryocyte colony stimulating", "colony stimulating factor", "megakaryocyte colony stimulating factor", "growth", "and", "development", "megakaryocyte growth", "growth and", "and development", "development factor", "megakaryocyte growth and", "growth and development", "and development factor", "megakaryocyte growth and development", "growth and development factor", "megakaryocyte growth and development factor", "myeloproliferative", "leukemia", "virus", "oncogene", "myeloproliferative leukemia", "leukemia virus", "virus oncogene", "oncogene ligand", "myeloproliferative leukemia virus", "leukemia virus oncogene", "virus oncogene ligand", "myeloproliferative leukemia virus oncogene", "leukemia virus oncogene ligand", "myeloproliferative leukemia virus oncogene ligand", "megakaryocyte stimulating", "megakaryocyte stimulating factor", "prepro", "prepro thrombopoietin", "isoform", "precursor", "thrombopoietin isoform", "isoform 4", "4 precursor", "thrombopoietin isoform 4", "isoform 4 precursor", "thrombopoietin isoform 4 precursor", "nirs", "thrombopoietin nirs" ] }, { "record_id": "MONDO:0957577", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957577", "0957577", "mim:620483", "620483" ] }, { "record_id": "MONDO:0957577", "record_type": "disease", "section": "disease_name", "phraselist": [ "variegate", "porphyria", "childhood", "onset", "variegate porphyria", "childhood onset", "porphyria childhood", "variegate porphyria childhood", "porphyria childhood onset", "variegate porphyria childhood onset" ] }, { "record_id": "MONDO:0957577", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957577", "record_type": "disease", "section": "proteins", "phraselist": [ "p50336", "p50336 1", "ppox_human", "np_000300", "ppox", "ppo", "v290m", "vpco", "vp" ] }, { "record_id": "MONDO:0957577", "record_type": "disease", "section": "proteins", "phraselist": [ "protoporphyrinogen", "oxidase", "protoporphyrinogen oxidase", "1.3.3.4", "ppo", "isoform", "oxidase isoform", "isoform 1", "protoporphyrinogen oxidase isoform", "oxidase isoform 1", "protoporphyrinogen oxidase isoform 1" ] }, { "record_id": "MONDO:0957578", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957578", "0957578", "mim:620484", "620484" ] }, { "record_id": "MONDO:0957578", "record_type": "disease", "section": "disease_name", "phraselist": [ "thrombocytopenia", "10", "thrombocytopenia 10" ] }, { "record_id": "MONDO:0957578", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957578", "record_type": "disease", "section": "proteins", "phraselist": [ "q12913", "q12913 1", "ptprj_human", "np_001091973", "glycoprotein", "ptprj", "cd148", "dep1", "hptp", "eta", "hptp eta", "hptpeta", "ptp", "r ptp", "ptp eta", "r ptp eta", "ptp j", "r ptp j", "scc1", "thc10" ] }, { "record_id": "MONDO:0957578", "record_type": "disease", "section": "proteins", "phraselist": [ "receptor", "type", "tyrosine", "protein", "phosphatase", "eta", "receptor type", "type tyrosine", "tyrosine protein", "protein phosphatase", "phosphatase eta", "receptor type tyrosine", "type tyrosine protein", "tyrosine protein phosphatase", "protein phosphatase eta", "receptor type tyrosine protein", "type tyrosine protein phosphatase", "tyrosine protein phosphatase eta", "receptor type tyrosine protein phosphatase", "type tyrosine protein phosphatase eta", "3.1.3.48", "cd148", "antigen", "cd148 antigen", "dep", "dep 1", "density", "enhanced", "density enhanced", "enhanced phosphatase", "phosphatase 1", "density enhanced phosphatase", "enhanced phosphatase 1", "density enhanced phosphatase 1", "hptp", "hptp eta", "protein tyrosine", "tyrosine phosphatase", "protein tyrosine phosphatase", "tyrosine phosphatase eta", "protein tyrosine phosphatase eta", "phosphatase receptor", "type j", "tyrosine phosphatase receptor", "phosphatase receptor type", "receptor type j", "protein tyrosine phosphatase receptor", "tyrosine phosphatase receptor type", "phosphatase receptor type j", "protein tyrosine phosphatase receptor type", "tyrosine phosphatase receptor type j", "ptp", "r ptp", "ptp j", "r ptp j", "ptp eta", "r ptp eta", "human", "human density", "human density enhanced", "human density enhanced phosphatase", "human density enhanced phosphatase 1", "polypeptide", "j polypeptide", "type j polypeptide", "receptor type j polypeptide", "isoform", "precursor", "eta isoform", "isoform 2", "2 precursor", "phosphatase eta isoform", "eta isoform 2", "isoform 2 precursor", "protein phosphatase eta isoform", "phosphatase eta isoform 2", "eta isoform 2 precursor", "tyrosine protein phosphatase eta isoform", "protein phosphatase eta isoform 2", "phosphatase eta isoform 2 precursor", "susceptibility", "to", "colon", "cancer", "mouse", "homolog", "of", "susceptibility to", "to colon", "colon cancer", "cancer 1", "homolog of", "susceptibility to colon", "to colon cancer", "colon cancer 1", "1 mouse", "mouse homolog", "susceptibility to colon cancer", "to colon cancer 1", "cancer 1 mouse", "mouse homolog of", "susceptibility to colon cancer 1", "colon cancer 1 mouse", "1 mouse homolog" ] }, { "record_id": "MONDO:0957580", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957580", "0957580", "mim:620486", "620486" ] }, { "record_id": "MONDO:0957580", "record_type": "disease", "section": "disease_name", "phraselist": [ "bleeding", "disorder", "platelet", "type", "25", "bleeding disorder", "platelet type", "disorder platelet", "type 25", "bleeding disorder platelet", "disorder platelet type", "platelet type 25", "bleeding disorder platelet type" ] }, { "record_id": "MONDO:0957580", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957580", "record_type": "disease", "section": "proteins", "phraselist": [ "p67936", "p67936 1", "tpm4_human", "np_001138632", "glycoprotein", "tpm4", "bdplt25", "hel", "108", "hel s", "s 108", "hel s 108" ] }, { "record_id": "MONDO:0957580", "record_type": "disease", "section": "proteins", "phraselist": [ "tropomyosin", "alpha", "chain", "tropomyosin alpha", "alpha 4", "4 chain", "tropomyosin alpha 4", "alpha 4 chain", "tropomyosin alpha 4 chain", "tm30p1", "tropomyosin 4", "epididymis", "secretory", "protein", "li", "108", "epididymis secretory", "secretory protein", "protein li", "li 108", "epididymis secretory protein", "secretory protein li", "protein li 108", "epididymis secretory protein li", "secretory protein li 108", "epididymis secretory protein li 108", "isoform", "tpm4.1cy", "chain isoform", "isoform tpm4.1cy", "4 chain isoform", "chain isoform tpm4.1cy", "alpha 4 chain isoform", "4 chain isoform tpm4.1cy", "tropomyosin alpha 4 chain isoform", "alpha 4 chain isoform tpm4.1cy" ] }, { "record_id": "MONDO:0957588", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957588", "0957588", "mim:620494", "620494" ] }, { "record_id": "MONDO:0957588", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "impaired", "language", "behavioral", "abnormalities", "and", "dysmorphic", "facies", "neurodevelopmental disorder", "disorder with", "with impaired", "impaired language", "behavioral abnormalities", "and dysmorphic", "dysmorphic facies", "neurodevelopmental disorder with", "disorder with impaired", "with impaired language", "language behavioral", "abnormalities and", "and dysmorphic facies", "neurodevelopmental disorder with impaired", "disorder with impaired language", "impaired language behavioral", "language behavioral abnormalities", "behavioral abnormalities and", "abnormalities and dysmorphic", "neurodevelopmental disorder with impaired language", "with impaired language behavioral", "impaired language behavioral abnormalities", "behavioral abnormalities and dysmorphic", "abnormalities and dysmorphic facies" ] }, { "record_id": "MONDO:0957588", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957588", "record_type": "disease", "section": "proteins", "phraselist": [ "q14157", "q14157 2", "ubp2l_human", "np_001120792", "glycoprotein", "ubap2l", "kiaa0144", "nedlbf", "nice", "nice 4", "nice4" ] }, { "record_id": "MONDO:0957588", "record_type": "disease", "section": "proteins", "phraselist": [ "ubiquitin", "associated", "protein", "like", "ubiquitin associated", "associated protein", "protein 2", "2 like", "ubiquitin associated protein", "associated protein 2", "protein 2 like", "ubiquitin associated protein 2", "associated protein 2 like", "ubiquitin associated protein 2 like", "nice", "protein nice", "nice 4", "protein nice 4", "rna", "polymerase", "ii", "degradation", "factor", "ubap2l", "rna polymerase", "polymerase ii", "ii degradation", "degradation factor", "factor ubap2l", "rna polymerase ii", "polymerase ii degradation", "ii degradation factor", "degradation factor ubap2l", "rna polymerase ii degradation", "polymerase ii degradation factor", "ii degradation factor ubap2l", "rna polymerase ii degradation factor", "polymerase ii degradation factor ubap2l", "isoform", "like isoform", "isoform b", "2 like isoform", "like isoform b", "protein 2 like isoform", "2 like isoform b", "associated protein 2 like isoform", "protein 2 like isoform b" ] }, { "record_id": "MONDO:0957595", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957595", "0957595", "mim:620501", "620501" ] }, { "record_id": "MONDO:0957595", "record_type": "disease", "section": "disease_name", "phraselist": [ "ziegler", "huang", "syndrome", "ziegler huang", "huang syndrome", "ziegler huang syndrome" ] }, { "record_id": "MONDO:0957595", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957595", "record_type": "disease", "section": "proteins", "phraselist": [ "q8new0", "q8new0 1", "znt7_human", "np_001138356", "glycoprotein", "slc30a7", "zhs", "znt7", "zntl2", "znt", "znt 7" ] }, { "record_id": "MONDO:0957595", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "transporter", "zinc transporter", "transporter 7", "zinc transporter 7", "solute", "carrier", "family", "30", "member", "solute carrier", "carrier family", "family 30", "30 member", "member 7", "solute carrier family", "carrier family 30", "family 30 member", "30 member 7", "solute carrier family 30", "carrier family 30 member", "family 30 member 7", "solute carrier family 30 member", "carrier family 30 member 7", "znt", "znt 7", "like", "znt like", "like transporter", "transporter 2", "znt like transporter", "like transporter 2", "znt like transporter 2", "30 zinc", "family 30 zinc", "30 zinc transporter", "transporter member", "carrier family 30 zinc", "family 30 zinc transporter", "zinc transporter member", "transporter member 7", "transporter znt", "zinc transporter znt", "transporter znt 7", "zinc transporter znt 7", "transporter like", "like 2", "zinc transporter like", "transporter like 2", "zinc transporter like 2" ] }, { "record_id": "MONDO:0957779", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957779", "0957779", "mim:620502", "620502" ] }, { "record_id": "MONDO:0957779", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "language", "delay", "and", "variable", "cognitive", "abnormalities", "neurodevelopmental disorder", "disorder with", "with language", "language delay", "delay and", "and variable", "variable cognitive", "cognitive abnormalities", "neurodevelopmental disorder with", "disorder with language", "with language delay", "language delay and", "delay and variable", "and variable cognitive", "variable cognitive abnormalities", "neurodevelopmental disorder with language", "disorder with language delay", "with language delay and", "language delay and variable", "delay and variable cognitive", "and variable cognitive abnormalities", "neurodevelopmental disorder with language delay", "disorder with language delay and", "with language delay and variable", "language delay and variable cognitive", "delay and variable cognitive abnormalities" ] }, { "record_id": "MONDO:0957779", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957779", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ubs5", "q9ubs5 1", "gabr1_human", "np_001305982", "glycoprotein", "gabbr1", "gababr1", "gabbr1 3", "gb1", "gprc3a", "nedlc" ] }, { "record_id": "MONDO:0957779", "record_type": "disease", "section": "proteins", "phraselist": [ "gamma", "aminobutyric", "acid", "type", "receptor", "subunit", "gamma aminobutyric", "aminobutyric acid", "acid type", "type b", "b receptor", "receptor subunit", "subunit 1", "gamma aminobutyric acid", "aminobutyric acid type", "acid type b", "type b receptor", "b receptor subunit", "receptor subunit 1", "gamma aminobutyric acid type", "aminobutyric acid type b", "acid type b receptor", "type b receptor subunit", "b receptor subunit 1", "gamma aminobutyric acid type b", "aminobutyric acid type b receptor", "acid type b receptor subunit", "type b receptor subunit 1", "gaba", "gaba b", "receptor 1", "gaba b receptor", "b receptor 1", "gaba b receptor 1", "r1", "r1 subunit", "receptor r1", "b receptor r1", "receptor r1 subunit", "gaba b receptor r1", "b receptor r1 subunit", "b r1", "gaba b r1", "br1", "gaba br1", "gababr1", "gb1", "acid gaba", "aminobutyric acid gaba", "gamma aminobutyric acid gaba", "acid gaba b", "isoform", "1 isoform", "isoform k", "subunit 1 isoform", "1 isoform k", "receptor subunit 1 isoform", "subunit 1 isoform k", "b receptor subunit 1 isoform", "receptor subunit 1 isoform k", "seven", "transmembrane", "helix", "seven transmembrane", "transmembrane helix", "helix receptor", "seven transmembrane helix", "transmembrane helix receptor", "seven transmembrane helix receptor" ] }, { "record_id": "MONDO:0957780", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957780", "0957780", "mim:620504", "620504" ] }, { "record_id": "MONDO:0957780", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "and", "epileptic", "encephalopathy", "111", "developmental and", "and epileptic", "epileptic encephalopathy", "encephalopathy 111", "developmental and epileptic", "and epileptic encephalopathy", "epileptic encephalopathy 111", "developmental and epileptic encephalopathy", "and epileptic encephalopathy 111", "developmental and epileptic encephalopathy 111" ] }, { "record_id": "MONDO:0957783", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957783", "0957783", "mim:620507", "620507" ] }, { "record_id": "MONDO:0957783", "record_type": "disease", "section": "disease_name", "phraselist": [ "ichthyosis", "with", "erythrokeratoderma", "ichthyosis with", "with erythrokeratoderma", "ichthyosis with erythrokeratoderma" ] }, { "record_id": "MONDO:0957783", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957783", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ubx7", "q9ubx7 2", "klk11_human", "np_001129504", "glycoprotein", "klk11", "iekd", "pro1279", "prss20", "tlsp" ] }, { "record_id": "MONDO:0957783", "record_type": "disease", "section": "proteins", "phraselist": [ "kallikrein", "11", "kallikrein 11", "3.4.21.", "hippostasin", "serine", "protease", "20", "serine protease", "protease 20", "serine protease 20", "trypsin", "like", "trypsin like", "like protease", "trypsin like protease", "hk11", "isoform", "precursor", "11 isoform", "isoform 1", "1 precursor", "kallikrein 11 isoform", "11 isoform 1", "isoform 1 precursor", "kallikrein 11 isoform 1", "11 isoform 1 precursor", "kallikrein 11 isoform 1 precursor" ] }, { "record_id": "MONDO:0957786", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957786", "0957786", "mim:620510", "620510" ] }, { "record_id": "MONDO:0957786", "record_type": "disease", "section": "disease_name", "phraselist": [ "xerosis", "and", "growth", "failure", "with", "immune", "pulmonary", "dysfunction", "syndrome", "xerosis and", "and growth", "growth failure", "failure with", "with immune", "immune and", "and pulmonary", "pulmonary dysfunction", "dysfunction syndrome", "xerosis and growth", "and growth failure", "growth failure with", "failure with immune", "with immune and", "immune and pulmonary", "and pulmonary dysfunction", "pulmonary dysfunction syndrome", "xerosis and growth failure", "and growth failure with", "growth failure with immune", "failure with immune and", "with immune and pulmonary", "immune and pulmonary dysfunction", "and pulmonary dysfunction syndrome", "xerosis and growth failure with", "and growth failure with immune", "growth failure with immune and", "failure with immune and pulmonary", "with immune and pulmonary dysfunction", "immune and pulmonary dysfunction syndrome" ] }, { "record_id": "MONDO:0957786", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957786", "record_type": "disease", "section": "proteins", "phraselist": [ "q9uk59", "q9uk59 1", "dbr1_human", "np_057300", "glycoprotein", "dbr1", "xgip" ] }, { "record_id": "MONDO:0957786", "record_type": "disease", "section": "proteins", "phraselist": [ "lariat", "debranching", "enzyme", "lariat debranching", "debranching enzyme", "lariat debranching enzyme", "3.1.4.", "rna", "rna lariat", "rna lariat debranching", "rna lariat debranching enzyme", "homolog", "enzyme homolog", "homolog 1", "debranching enzyme homolog", "enzyme homolog 1", "debranching enzyme homolog 1" ] }, { "record_id": "MONDO:0957790", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957790", "0957790", "mim:620514", "620514" ] }, { "record_id": "MONDO:0957790", "record_type": "disease", "section": "disease_name", "phraselist": [ "immune", "dysregulation", "autoimmunity", "and", "autoinflammation", "immune dysregulation", "and autoinflammation", "dysregulation autoimmunity", "autoimmunity and", "immune dysregulation autoimmunity", "autoimmunity and autoinflammation", "dysregulation autoimmunity and" ] }, { "record_id": "MONDO:0957790", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957790", "record_type": "disease", "section": "proteins", "phraselist": [ "p19174", "p19174 1", "plcg1_human", "np_002651", "glycoprotein", "plcg1", "idaa", "nckap3", "plc", "ii", "plc ii", "plc148", "plc1", "plcgamma1" ] }, { "record_id": "MONDO:0957790", "record_type": "disease", "section": "proteins", "phraselist": [ "phosphatidylinositol", "bisphosphate", "phosphodiesterase", "gamma", "1 phosphatidylinositol", "phosphatidylinositol 4", "4 5", "5 bisphosphate", "bisphosphate phosphodiesterase", "phosphodiesterase gamma", "gamma 1", "1 phosphatidylinositol 4", "phosphatidylinositol 4 5", "4 5 bisphosphate", "5 bisphosphate phosphodiesterase", "bisphosphate phosphodiesterase gamma", "phosphodiesterase gamma 1", "1 phosphatidylinositol 4 5", "phosphatidylinositol 4 5 bisphosphate", "4 5 bisphosphate phosphodiesterase", "5 bisphosphate phosphodiesterase gamma", "bisphosphate phosphodiesterase gamma 1", "1 phosphatidylinositol 4 5 bisphosphate", "phosphatidylinositol 4 5 bisphosphate phosphodiesterase", "4 5 bisphosphate phosphodiesterase gamma", "5 bisphosphate phosphodiesterase gamma 1", "phosphatidyl", "myo", "inositol", "1 phosphatidyl", "phosphatidyl d", "d myo", "myo inositol", "inositol 4", "1 phosphatidyl d", "phosphatidyl d myo", "d myo inositol", "myo inositol 4", "inositol 4 5", "1 phosphatidyl d myo", "phosphatidyl d myo inositol", "d myo inositol 4", "myo inositol 4 5", "inositol 4 5 bisphosphate", "1 phosphatidyl d myo inositol", "phosphatidyl d myo inositol 4", "d myo inositol 4 5", "myo inositol 4 5 bisphosphate", "isoform", "1 isoform", "isoform a", "gamma 1 isoform", "1 isoform a", "phosphodiesterase gamma 1 isoform", "gamma 1 isoform a", "bisphosphate phosphodiesterase gamma 1 isoform", "phosphodiesterase gamma 1 isoform a", "3.1.4.11", "plc", "148", "plc 148", "ii", "plc ii", "plc gamma", "plc gamma 1", "phosphoinositide", "phospholipase", "phosphoinositide phospholipase", "phospholipase c", "c gamma", "phosphoinositide phospholipase c", "phospholipase c gamma", "c gamma 1", "phosphoinositide phospholipase c gamma", "phospholipase c gamma 1", "phosphoinositide phospholipase c gamma 1", "c ii", "phospholipase c ii", "inositoltrisphosphohydrolase", "monophosphatidylinositol", "monophosphatidylinositol phosphodiesterase", "phosphatidylinositol phospholipase", "phosphatidylinositol phospholipase c", "phosphoinositidase", "phosphoinositidase c", "formerly", "subtype", "formerly subtype", "subtype 148", "1 formerly", "formerly subtype 148", "gamma 1 formerly", "1 formerly subtype", "gamma 1 formerly subtype", "1 formerly subtype 148", "c 148", "phospholipase c 148", "triphosphoinositide", "triphosphoinositide phosphodiesterase" ] }, { "record_id": "MONDO:0957791", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957791", "0957791", "mim:620515", "620515" ] }, { "record_id": "MONDO:0957791", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "motor", "regression", "progressive", "spastic", "paraplegia", "and", "oromotor", "dysfunction", "neurodevelopmental disorder", "disorder with", "with motor", "motor regression", "progressive spastic", "spastic paraplegia", "and oromotor", "oromotor dysfunction", "neurodevelopmental disorder with", "disorder with motor", "with motor regression", "regression progressive", "progressive spastic paraplegia", "paraplegia and", "and oromotor dysfunction", "neurodevelopmental disorder with motor", "disorder with motor regression", "motor regression progressive", "regression progressive spastic", "spastic paraplegia and", "paraplegia and oromotor", "neurodevelopmental disorder with motor regression", "with motor regression progressive", "motor regression progressive spastic", "regression progressive spastic paraplegia", "progressive spastic paraplegia and", "spastic paraplegia and oromotor", "paraplegia and oromotor dysfunction" ] }, { "record_id": "MONDO:0957791", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957791", "record_type": "disease", "section": "proteins", "phraselist": [ "q5sxm2", "q5sxm2 1", "snpc4_human", "np_003077", "glycoprotein", "snapc4", "nedrso", "ptfalpha", "snap190" ] }, { "record_id": "MONDO:0957791", "record_type": "disease", "section": "proteins", "phraselist": [ "snrna", "activating", "protein", "complex", "subunit", "snrna activating", "activating protein", "protein complex", "complex subunit", "subunit 4", "snrna activating protein", "activating protein complex", "protein complex subunit", "complex subunit 4", "snrna activating protein complex", "activating protein complex subunit", "protein complex subunit 4", "snrna activating protein complex subunit", "activating protein complex subunit 4", "pse", "binding", "factor", "alpha", "pse binding", "binding factor", "factor subunit", "subunit alpha", "pse binding factor", "binding factor subunit", "factor subunit alpha", "pse binding factor subunit", "binding factor subunit alpha", "pse binding factor subunit alpha", "ptf", "ptf subunit", "ptf subunit alpha", "proximal", "sequence", "element", "transcription", "proximal sequence", "sequence element", "element binding", "binding transcription", "transcription factor", "proximal sequence element", "sequence element binding", "element binding transcription", "binding transcription factor", "transcription factor subunit", "proximal sequence element binding", "sequence element binding transcription", "element binding transcription factor", "binding transcription factor subunit", "transcription factor subunit alpha", "proximal sequence element binding transcription", "sequence element binding transcription factor", "element binding transcription factor subunit", "binding transcription factor subunit alpha", "snapc", "190", "kda", "snapc 190", "190 kda", "kda subunit", "snapc 190 kda", "190 kda subunit", "snapc 190 kda subunit", "snapc subunit", "snapc subunit 4", "complex 190", "protein complex 190", "complex 190 kda", "activating protein complex 190", "protein complex 190 kda", "complex 190 kda subunit", "snrna activating protein complex 190", "activating protein complex 190 kda", "protein complex 190 kda subunit", "isoform", "4 isoform", "isoform a", "subunit 4 isoform", "4 isoform a", "complex subunit 4 isoform", "subunit 4 isoform a", "protein complex subunit 4 isoform", "complex subunit 4 isoform a" ] }, { "record_id": "MONDO:0957795", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957795", "0957795", "mim:620519", "620519" ] }, { "record_id": "MONDO:0957795", "record_type": "disease", "section": "disease_name", "phraselist": [ "arrhythmogenic", "cardiomyopathy", "with", "variable", "ectodermal", "abnormalities", "arrhythmogenic cardiomyopathy", "cardiomyopathy with", "with variable", "variable ectodermal", "ectodermal abnormalities", "arrhythmogenic cardiomyopathy with", "cardiomyopathy with variable", "with variable ectodermal", "variable ectodermal abnormalities", "arrhythmogenic cardiomyopathy with variable", "cardiomyopathy with variable ectodermal", "with variable ectodermal abnormalities", "arrhythmogenic cardiomyopathy with variable ectodermal", "cardiomyopathy with variable ectodermal abnormalities" ] }, { "record_id": "MONDO:0957795", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957795", "record_type": "disease", "section": "proteins", "phraselist": [ "q8wuf5", "q8wuf5 1", "iaspp_human", "np_001135974", "glycoprotein", "ppp1r13l", "arcme", "cmaea", "iaspp", "nkip1", "ppp1r13bl", "rai4", "rai" ] }, { "record_id": "MONDO:0957795", "record_type": "disease", "section": "proteins", "phraselist": [ "rela", "associated", "inhibitor", "rela associated", "associated inhibitor", "rela associated inhibitor", "of", "aspp", "protein", "inhibitor of", "of aspp", "aspp protein", "inhibitor of aspp", "of aspp protein", "inhibitor of aspp protein", "nfkb", "interacting", "nfkb interacting", "interacting protein", "protein 1", "nfkb interacting protein", "interacting protein 1", "nfkb interacting protein 1", "ppp1r13b", "like", "ppp1r13b like", "like protein", "ppp1r13b like protein", "iaspp", "protein iaspp", "apoptosis", "stimulating", "p53", "of apoptosis", "apoptosis stimulating", "stimulating protein", "protein of", "of p53", "inhibitor of apoptosis", "of apoptosis stimulating", "apoptosis stimulating protein", "stimulating protein of", "protein of p53", "inhibitor of apoptosis stimulating", "of apoptosis stimulating protein", "apoptosis stimulating protein of", "stimulating protein of p53", "inhibitor of apoptosis stimulating protein", "of apoptosis stimulating protein of", "apoptosis stimulating protein of p53", "phosphatase", "regulatory", "subunit", "13", "protein phosphatase", "phosphatase 1", "subunit 13", "13 like", "protein phosphatase 1", "1 regulatory", "regulatory inhibitor", "inhibitor subunit", "subunit 13 like", "phosphatase 1 regulatory", "inhibitor subunit 13", "protein phosphatase 1 regulatory", "1 regulatory inhibitor", "regulatory inhibitor subunit", "inhibitor subunit 13 like", "retinoic", "acid", "induced", "retinoic acid", "acid induced", "induced 4", "retinoic acid induced", "acid induced 4", "retinoic acid induced 4" ] }, { "record_id": "MONDO:0957807", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957807", "0957807", "mim:620532", "620532" ] }, { "record_id": "MONDO:0957807", "record_type": "disease", "section": "disease_name", "phraselist": [ "hyper", "ige", "syndrome", "autosomal", "dominant", "with", "recurrent", "infections", "hyper ige", "ige syndrome", "syndrome 6", "autosomal dominant", "with recurrent", "recurrent infections", "hyper ige syndrome", "ige syndrome 6", "6 autosomal", "dominant with", "with recurrent infections", "hyper ige syndrome 6", "syndrome 6 autosomal", "6 autosomal dominant", "autosomal dominant with", "dominant with recurrent", "ige syndrome 6 autosomal", "syndrome 6 autosomal dominant", "autosomal dominant with recurrent", "dominant with recurrent infections" ] }, { "record_id": "MONDO:0957807", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957807", "record_type": "disease", "section": "proteins", "phraselist": [ "p42226", "p42226 1", "stat6_human", "np_001171549", "glycoprotein", "stat6", "d12s1644", "hies6", "il", "stat", "il 4", "4 stat", "il 4 stat", "stat6b", "stat6c" ] }, { "record_id": "MONDO:0957807", "record_type": "disease", "section": "proteins", "phraselist": [ "signal", "transducer", "and", "activator", "of", "transcription", "signal transducer", "transducer and", "and activator", "activator of", "of transcription", "transcription 6", "signal transducer and", "transducer and activator", "and activator of", "activator of transcription", "of transcription 6", "signal transducer and activator", "transducer and activator of", "and activator of transcription", "activator of transcription 6", "signal transducer and activator of", "transducer and activator of transcription", "and activator of transcription 6", "il", "stat", "il 4", "4 stat", "il 4 stat", "interleukin4", "induced", "interleukin4 induced", "stat interleukin4", "stat interleukin4 induced", "isoform", "6 isoform", "isoform 1", "transcription 6 isoform", "6 isoform 1", "of transcription 6 isoform", "transcription 6 isoform 1", "activator of transcription 6 isoform", "of transcription 6 isoform 1", "interleukin", "interleukin 4", "4 induced", "6 interleukin", "interleukin 4 induced", "transcription 6 interleukin", "6 interleukin 4", "of transcription 6 interleukin", "transcription 6 interleukin 4", "6 interleukin 4 induced", "factor", "transcription factor", "factor il", "transcription factor il", "factor il 4", "transcription factor il 4", "factor il 4 stat", "transcription factor il 4 stat" ] }, { "record_id": "MONDO:0957809", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957809", "0957809", "mim:620534", "620534" ] }, { "record_id": "MONDO:0957809", "record_type": "disease", "section": "disease_name", "phraselist": [ "neutropenia", "severe", "congenital", "10", "autosomal", "recessive", "severe congenital", "autosomal recessive", "neutropenia severe", "congenital 10", "10 autosomal", "neutropenia severe congenital", "severe congenital 10", "10 autosomal recessive", "congenital 10 autosomal" ] }, { "record_id": "MONDO:0957809", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957809", "record_type": "disease", "section": "proteins", "phraselist": [ "q9uhb9", "q9uhb9 1", "srp68_human", "np_001247431", "glycoprotein", "srp68", "scn10" ] }, { "record_id": "MONDO:0957809", "record_type": "disease", "section": "proteins", "phraselist": [ "signal", "recognition", "particle", "subunit", "srp68", "signal recognition", "recognition particle", "particle subunit", "subunit srp68", "signal recognition particle", "recognition particle subunit", "particle subunit srp68", "signal recognition particle subunit", "recognition particle subunit srp68", "signal recognition particle subunit srp68", "68", "kda", "protein", "particle 68", "68 kda", "kda protein", "recognition particle 68", "particle 68 kda", "68 kda protein", "signal recognition particle 68", "recognition particle 68 kda", "particle 68 kda protein", "signal recognition particle 68 kda", "recognition particle 68 kda protein", "68kda", "particle 68kda", "recognition particle 68kda", "signal recognition particle 68kda", "isoform", "srp68 isoform", "isoform 2", "subunit srp68 isoform", "srp68 isoform 2", "particle subunit srp68 isoform", "subunit srp68 isoform 2", "recognition particle subunit srp68 isoform", "particle subunit srp68 isoform 2" ] }, { "record_id": "MONDO:0957811", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957811", "0957811", "mim:620536", "620536" ] }, { "record_id": "MONDO:0957811", "record_type": "disease", "section": "disease_name", "phraselist": [ "alport", "syndrome", "3b", "autosomal", "recessive", "alport syndrome", "syndrome 3b", "autosomal recessive", "alport syndrome 3b", "3b autosomal", "syndrome 3b autosomal", "3b autosomal recessive", "alport syndrome 3b autosomal", "syndrome 3b autosomal recessive" ] }, { "record_id": "MONDO:0957812", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957812", "0957812", "mim:620537", "620537" ] }, { "record_id": "MONDO:0957812", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "and", "epileptic", "encephalopathy", "112", "developmental and", "and epileptic", "epileptic encephalopathy", "encephalopathy 112", "developmental and epileptic", "and epileptic encephalopathy", "epileptic encephalopathy 112", "developmental and epileptic encephalopathy", "and epileptic encephalopathy 112", "developmental and epileptic encephalopathy 112" ] }, { "record_id": "MONDO:0957815", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957815", "0957815", "mim:620540", "620540" ] }, { "record_id": "MONDO:0957815", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "delay", "with", "or", "without", "epilepsy", "developmental delay", "delay with", "with or", "or without", "without epilepsy", "developmental delay with", "delay with or", "with or without", "or without epilepsy", "developmental delay with or", "delay with or without", "with or without epilepsy", "developmental delay with or without", "delay with or without epilepsy" ] }, { "record_id": "MONDO:0957815", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957815", "record_type": "disease", "section": "proteins", "phraselist": [ "q13813", "q13813 1", "sptn1_human", "np_001123910", "glycoprotein", "sptan1", "dee5", "devep", "eiee5", "hmn11", "hmnd11", "neas", "spg91", "spta2" ] }, { "record_id": "MONDO:0957815", "record_type": "disease", "section": "proteins", "phraselist": [ "spectrin", "alpha", "chain", "non", "erythrocytic", "spectrin alpha", "alpha chain", "non erythrocytic", "erythrocytic 1", "spectrin alpha chain", "chain non", "non erythrocytic 1", "alpha chain non", "chain non erythrocytic", "spectrin alpha chain non", "alpha chain non erythrocytic", "chain non erythrocytic 1", "ii", "alpha ii", "ii spectrin", "alpha ii spectrin", "fodrin", "fodrin alpha", "fodrin alpha chain", "erythroid", "subunit", "non erythroid", "erythroid alpha", "alpha subunit", "spectrin non", "non erythroid alpha", "erythroid alpha subunit", "spectrin non erythroid", "non erythroid alpha subunit", "spectrin non erythroid alpha", "alpha fodrin", "epididymis", "secretory", "sperm", "binding", "protein", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "isoform", "1 isoform", "isoform 1", "erythrocytic 1 isoform", "1 isoform 1", "non erythrocytic 1 isoform", "erythrocytic 1 isoform 1", "non erythrocytic 1 isoform 1", "erythroid alpha chain", "non erythroid alpha chain" ] }, { "record_id": "MONDO:0957819", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957819", "0957819", "mim:620545", "620545" ] }, { "record_id": "MONDO:0957819", "record_type": "disease", "section": "disease_name", "phraselist": [ "arthrogryposis", "distal", "type", "12", "type 12", "arthrogryposis distal", "distal type", "distal type 12", "arthrogryposis distal type", "distal 12", "arthrogryposis distal 12" ] }, { "record_id": "MONDO:0957819", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957819", "record_type": "disease", "section": "proteins", "phraselist": [ "q8te58", "q8te58 1", "ats15_human", "np_620686", "glycoprotein", "adamts15", "da12" ] }, { "record_id": "MONDO:0957819", "record_type": "disease", "section": "proteins", "phraselist": [ "disintegrin", "and", "metalloproteinase", "with", "thrombospondin", "motifs", "15", "a disintegrin", "disintegrin and", "and metalloproteinase", "metalloproteinase with", "with thrombospondin", "thrombospondin motifs", "motifs 15", "a disintegrin and", "disintegrin and metalloproteinase", "and metalloproteinase with", "metalloproteinase with thrombospondin", "with thrombospondin motifs", "thrombospondin motifs 15", "a disintegrin and metalloproteinase", "disintegrin and metalloproteinase with", "and metalloproteinase with thrombospondin", "metalloproteinase with thrombospondin motifs", "with thrombospondin motifs 15", "a disintegrin and metalloproteinase with", "disintegrin and metalloproteinase with thrombospondin", "and metalloproteinase with thrombospondin motifs", "metalloproteinase with thrombospondin motifs 15", "3.4.24.", "preproprotein", "15 preproprotein", "motifs 15 preproprotein", "thrombospondin motifs 15 preproprotein", "with thrombospondin motifs 15 preproprotein", "adam", "ts", "adam ts", "ts 15", "adam ts 15", "ts15", "adam ts15", "adamts", "adamts 15", "like", "metalloprotease", "reprolysin", "type", "motif", "disintegrin like", "like and", "and metalloprotease", "reprolysin type", "thrombospondin type", "type 1", "1 motif", "a disintegrin like", "disintegrin like and", "like and metalloprotease", "metalloprotease reprolysin", "type with", "with thrombospondin type", "thrombospondin type 1", "type 1 motif", "motif 15", "a disintegrin like and", "disintegrin like and metalloprotease", "and metalloprotease reprolysin", "metalloprotease reprolysin type", "reprolysin type with", "type with thrombospondin", "with thrombospondin type 1", "thrombospondin type 1 motif", "1 motif 15", "a disintegrin like and metalloprotease", "like and metalloprotease reprolysin", "and metalloprotease reprolysin type", "reprolysin type with thrombospondin", "type with thrombospondin type", "with thrombospondin type 1 motif", "type 1 motif 15", "motif 15 preproprotein", "domains", "metalloprotease disintegrin", "disintegrin 15", "15 with", "thrombospondin domains", "metalloprotease disintegrin 15", "disintegrin 15 with", "15 with thrombospondin", "with thrombospondin domains", "metalloprotease disintegrin 15 with", "disintegrin 15 with thrombospondin", "15 with thrombospondin domains", "metalloprotease disintegrin 15 with thrombospondin", "disintegrin 15 with thrombospondin domains" ] }, { "record_id": "MONDO:0957822", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957822", "0957822", "mim:620548", "620548" ] }, { "record_id": "MONDO:0957822", "record_type": "disease", "section": "disease_name", "phraselist": [ "premature", "ovarian", "failure", "22", "premature ovarian", "ovarian failure", "failure 22", "premature ovarian failure", "ovarian failure 22", "premature ovarian failure 22" ] }, { "record_id": "MONDO:0957822", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957822", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n6l0", "q8n6l0 1", "kash5_human", "np_653289", "glycoprotein", "kash5", "ccdc155", "pof22", "spgf88" ] }, { "record_id": "MONDO:0957822", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "kash5", "protein kash5", "coiled", "coil", "domain", "containing", "155", "coiled coil", "coil domain", "domain containing", "containing protein", "protein 155", "coiled coil domain", "coil domain containing", "domain containing protein", "containing protein 155", "coiled coil domain containing", "coil domain containing protein", "domain containing protein 155", "coiled coil domain containing protein", "coil domain containing protein 155", "kash", "kash domain", "protein 5", "kash domain containing", "containing protein 5", "kash domain containing protein", "domain containing protein 5", "kash domain containing protein 5", "containing 155", "domain containing 155", "coil domain containing 155", "coiled coil domain containing 155" ] }, { "record_id": "MONDO:0957824", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957824", "0957824", "mim:620550", "620550" ] }, { "record_id": "MONDO:0957824", "record_type": "disease", "section": "disease_name", "phraselist": [ "optic", "atrophy", "14", "optic atrophy", "atrophy 14", "optic atrophy 14" ] }, { "record_id": "MONDO:0957824", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957824", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nqg6", "q9nqg6 1", "mid51_human", "np_001291493", "mief1", "altmief1", "altmid51", "d3a", "hsu79252", "mid51", "opa14", "smcr7l", "dj1104e15.3" ] }, { "record_id": "MONDO:0957824", "record_type": "disease", "section": "proteins", "phraselist": [ "mitochondrial", "dynamics", "protein", "mief1", "mitochondrial dynamics", "dynamics protein", "protein mief1", "mitochondrial dynamics protein", "dynamics protein mief1", "mitochondrial dynamics protein mief1", "danger", "family", "member", "3a", "danger family", "family member", "member 3a", "danger family member", "family member 3a", "danger family member 3a", "of", "51", "kda", "protein of", "of 51", "51 kda", "dynamics protein of", "protein of 51", "of 51 kda", "mitochondrial dynamics protein of", "dynamics protein of 51", "protein of 51 kda", "mitochondrial dynamics protein of 51", "dynamics protein of 51 kda", "elongation", "factor", "mitochondrial elongation", "elongation factor", "factor 1", "mitochondrial elongation factor", "elongation factor 1", "mitochondrial elongation factor 1", "smcr7", "like", "smcr7 like", "like protein", "smcr7 like protein", "smith", "magenis", "syndrome", "chromosomal", "region", "candidate", "gene", "smith magenis", "magenis syndrome", "syndrome chromosomal", "chromosomal region", "region candidate", "candidate gene", "gene 7", "7 protein", "protein like", "smith magenis syndrome", "magenis syndrome chromosomal", "syndrome chromosomal region", "chromosomal region candidate", "region candidate gene", "candidate gene 7", "gene 7 protein", "7 protein like", "smith magenis syndrome chromosomal", "magenis syndrome chromosomal region", "syndrome chromosomal region candidate", "chromosomal region candidate gene", "region candidate gene 7", "candidate gene 7 protein", "gene 7 protein like", "smith magenis syndrome chromosomal region", "magenis syndrome chromosomal region candidate", "syndrome chromosomal region candidate gene", "chromosomal region candidate gene 7", "region candidate gene 7 protein", "candidate gene 7 protein like", "chromosome", "syndrome chromosome", "chromosome region", "candidate 7", "7 like", "magenis syndrome chromosome", "syndrome chromosome region", "candidate 7 like", "smith magenis syndrome chromosome", "magenis syndrome chromosome region", "chromosome region candidate", "region candidate 7", "smith magenis syndrome chromosome region", "syndrome chromosome region candidate", "chromosome region candidate 7", "region candidate 7 like", "mid51", "protein mid51", "dynamics protein mid51", "mitochondrial dynamics protein mid51", "isoform", "mief1 isoform", "isoform 2", "protein mief1 isoform", "mief1 isoform 2", "dynamics protein mief1 isoform", "protein mief1 isoform 2", "mitochondrial dynamics protein mief1 isoform", "dynamics protein mief1 isoform 2" ] }, { "record_id": "MONDO:0957832", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957832", "0957832", "mim:620558", "620558" ] }, { "record_id": "MONDO:0957832", "record_type": "disease", "section": "disease_name", "phraselist": [ "craniometadiaphyseal", "osteosclerosis", "with", "hip", "dysplasia", "craniometadiaphyseal osteosclerosis", "osteosclerosis with", "with hip", "hip dysplasia", "craniometadiaphyseal osteosclerosis with", "osteosclerosis with hip", "with hip dysplasia", "craniometadiaphyseal osteosclerosis with hip", "osteosclerosis with hip dysplasia", "craniometadiaphyseal osteosclerosis with hip dysplasia" ] }, { "record_id": "MONDO:0957832", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957832", "record_type": "disease", "section": "proteins", "phraselist": [ "o15169", "o15169 1", "axin1_human", "np_003493", "glycoprotein", "axin1", "axin", "cmdoh", "ppp1r49" ] }, { "record_id": "MONDO:0957832", "record_type": "disease", "section": "proteins", "phraselist": [ "axin", "axin 1", "axis", "inhibition", "protein", "axis inhibition", "inhibition protein", "protein 1", "axis inhibition protein", "inhibition protein 1", "axis inhibition protein 1", "isoform", "1 isoform", "isoform a", "axin 1 isoform", "1 isoform a", "axin 1 isoform a", "inhibitor", "axis inhibitor", "inhibitor 1", "axis inhibitor 1", "fused", "mouse", "homolog", "of", "homolog of", "fused mouse", "mouse homolog", "mouse homolog of", "fused mouse homolog", "haxin", "phosphatase", "regulatory", "subunit", "49", "protein phosphatase", "phosphatase 1", "regulatory subunit", "subunit 49", "protein phosphatase 1", "1 regulatory", "regulatory subunit 49", "phosphatase 1 regulatory", "1 regulatory subunit", "protein phosphatase 1 regulatory", "phosphatase 1 regulatory subunit", "1 regulatory subunit 49" ] }, { "record_id": "MONDO:0957919", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957919", "0957919", "mim:301114", "301114" ] }, { "record_id": "MONDO:0957919", "record_type": "disease", "section": "disease_name", "phraselist": [ "lui", "jee", "baron", "syndrome", "lui jee", "jee baron", "baron syndrome", "lui jee baron", "jee baron syndrome", "lui jee baron syndrome" ] }, { "record_id": "MONDO:0957919", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957919", "record_type": "disease", "section": "proteins", "phraselist": [ "q56a73", "q56a73 1", "spin4_human", "np_001012986", "glycoprotein", "spin4", "ljbs", "tdrd28" ] }, { "record_id": "MONDO:0957919", "record_type": "disease", "section": "proteins", "phraselist": [ "spindlin", "spindlin 4" ] }, { "record_id": "MONDO:0957922", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957922", "0957922", "mim:620570", "620570" ] }, { "record_id": "MONDO:0957922", "record_type": "disease", "section": "disease_name", "phraselist": [ "ciliary", "dyskinesia", "primary", "52", "ciliary dyskinesia", "dyskinesia primary", "primary 52", "ciliary dyskinesia primary", "dyskinesia primary 52" ] }, { "record_id": "MONDO:0957922", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957922", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n136", "q8n136 1", "daw1_human", "np_001316933", "daw1", "cild52", "dnaaf18", "oda16", "wdr69" ] }, { "record_id": "MONDO:0957922", "record_type": "disease", "section": "proteins", "phraselist": [ "dynein", "assembly", "factor", "with", "wd", "repeat", "domains", "dynein assembly", "assembly factor", "factor with", "with wd", "wd repeat", "repeat domains", "domains 1", "dynein assembly factor", "assembly factor with", "factor with wd", "with wd repeat", "wd repeat domains", "repeat domains 1", "dynein assembly factor with", "assembly factor with wd", "factor with wd repeat", "with wd repeat domains", "wd repeat domains 1", "dynein assembly factor with wd", "assembly factor with wd repeat", "factor with wd repeat domains", "with wd repeat domains 1", "outer", "row", "protein", "16", "homolog", "outer row", "row dynein", "assembly protein", "protein 16", "16 homolog", "outer row dynein", "row dynein assembly", "dynein assembly protein", "assembly protein 16", "protein 16 homolog", "outer row dynein assembly", "row dynein assembly protein", "dynein assembly protein 16", "assembly protein 16 homolog", "outer row dynein assembly protein", "row dynein assembly protein 16", "dynein assembly protein 16 homolog", "domain", "69", "repeat domain", "domain 69", "wd repeat domain", "repeat domain 69", "wd repeat domain 69", "containing", "repeat containing", "containing protein", "protein 69", "wd repeat containing", "repeat containing protein", "containing protein 69", "wd repeat containing protein", "repeat containing protein 69", "wd repeat containing protein 69", "isoform", "1 isoform", "isoform 2", "domains 1 isoform", "1 isoform 2", "repeat domains 1 isoform", "domains 1 isoform 2", "wd repeat domains 1 isoform", "repeat domains 1 isoform 2", "wdr", "with wdr", "wdr repeat", "factor with wdr", "with wdr repeat", "wdr repeat domains", "assembly factor with wdr", "factor with wdr repeat", "with wdr repeat domains", "wdr repeat domains 1", "dynein assembly factor with wdr", "assembly factor with wdr repeat", "factor with wdr repeat domains", "with wdr repeat domains 1", "axonemal", "18", "dynein axonemal", "axonemal assembly", "factor 18", "dynein axonemal assembly", "axonemal assembly factor", "assembly factor 18", "dynein axonemal assembly factor", "axonemal assembly factor 18", "dynein axonemal assembly factor 18", "assembly 16", "dynein assembly 16", "assembly 16 homolog", "row dynein assembly 16", "dynein assembly 16 homolog", "outer row dynein assembly 16", "row dynein assembly 16 homolog", "testis", "tissue", "sperm", "binding", "li", "93mp", "testis tissue", "tissue sperm", "sperm binding", "binding protein", "protein li", "li 93mp", "testis tissue sperm", "tissue sperm binding", "sperm binding protein", "binding protein li", "protein li 93mp", "testis tissue sperm binding", "tissue sperm binding protein", "sperm binding protein li", "binding protein li 93mp", "testis tissue sperm binding protein", "tissue sperm binding protein li", "sperm binding protein li 93mp" ] }, { "record_id": "MONDO:0957935", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957935", "0957935", "mim:620583", "620583" ] }, { "record_id": "MONDO:0957935", "record_type": "disease", "section": "disease_name", "phraselist": [ "optic", "atrophy", "15", "optic atrophy", "atrophy 15", "optic atrophy 15" ] }, { "record_id": "MONDO:0957935", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957935", "record_type": "disease", "section": "proteins", "phraselist": [ "q8ivs2", "q8ivs2 1", "fabd_human", "np_055322", "glycoprotein", "mcat", "fasn2c", "mct1", "mct", "mt", "net62", "opa15", "fabd" ] }, { "record_id": "MONDO:0957935", "record_type": "disease", "section": "proteins", "phraselist": [ "malonyl", "coa", "acyl", "carrier", "protein", "transacylase", "mitochondrial", "malonyl coa", "coa acyl", "acyl carrier", "carrier protein", "protein transacylase", "malonyl coa acyl", "coa acyl carrier", "acyl carrier protein", "carrier protein transacylase", "transacylase mitochondrial", "malonyl coa acyl carrier", "coa acyl carrier protein", "acyl carrier protein transacylase", "protein transacylase mitochondrial", "malonyl coa acyl carrier protein", "coa acyl carrier protein transacylase", "carrier protein transacylase mitochondrial", "2.3.1.39", "mct", "coa:acp", "acyltransferase", "mitochondrial malonyl", "malonyl coa:acp", "coa:acp acyltransferase", "mitochondrial malonyl coa:acp", "malonyl coa:acp acyltransferase", "mitochondrial malonyl coa:acp acyltransferase", "malonyltransferase", "mitochondrial malonyltransferase", "protein malonyltransferase", "carrier protein malonyltransferase", "acyl carrier protein malonyltransferase", "s malonyltransferase", "protein s", "carrier protein s", "protein s malonyltransferase", "acyl carrier protein s", "carrier protein s malonyltransferase", "acyltransferase mitochondrial", "coa:acp acyltransferase mitochondrial", "malonyl coa:acp acyltransferase mitochondrial", "isoform", "precursor", "mitochondrial isoform", "isoform b", "b precursor", "mitochondrial isoform b", "isoform b precursor", "transacylase mitochondrial isoform", "mitochondrial isoform b precursor", "protein transacylase mitochondrial isoform", "transacylase mitochondrial isoform b" ] }, { "record_id": "MONDO:0957953", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957953", "0957953", "mim:620601", "620601" ] }, { "record_id": "MONDO:0957953", "record_type": "disease", "section": "disease_name", "phraselist": [ "garg", "mishra", "progeroid", "syndrome", "garg mishra", "mishra progeroid", "progeroid syndrome", "garg mishra progeroid", "mishra progeroid syndrome", "garg mishra progeroid syndrome" ] }, { "record_id": "MONDO:0957953", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957953", "record_type": "disease", "section": "proteins", "phraselist": [ "q9p0u1", "q9p0u1 1", "tom7_human", "np_061932", "tomm7", "ad", "014", "ad 014", "gmpgs", "tom7", "tomm07" ] }, { "record_id": "MONDO:0957953", "record_type": "disease", "section": "proteins", "phraselist": [ "mitochondrial", "import", "receptor", "subunit", "tom7", "homolog", "mitochondrial import", "import receptor", "receptor subunit", "subunit tom7", "tom7 homolog", "mitochondrial import receptor", "import receptor subunit", "receptor subunit tom7", "subunit tom7 homolog", "mitochondrial import receptor subunit", "import receptor subunit tom7", "receptor subunit tom7 homolog", "mitochondrial import receptor subunit tom7", "import receptor subunit tom7 homolog", "translocase", "of", "outer", "membrane", "kda", "translocase of", "of outer", "outer membrane", "membrane 7", "7 kda", "kda subunit", "subunit homolog", "translocase of outer", "of outer membrane", "outer membrane 7", "membrane 7 kda", "7 kda subunit", "kda subunit homolog", "translocase of outer membrane", "of outer membrane 7", "outer membrane 7 kda", "membrane 7 kda subunit", "7 kda subunit homolog", "translocase of outer membrane 7", "of outer membrane 7 kda", "outer membrane 7 kda subunit", "membrane 7 kda subunit homolog", "outer mitochondrial", "mitochondrial membrane", "7 homolog", "of outer mitochondrial", "outer mitochondrial membrane", "mitochondrial membrane 7", "membrane 7 homolog", "translocase of outer mitochondrial", "of outer mitochondrial membrane", "outer mitochondrial membrane 7", "mitochondrial membrane 7 homolog", "translocase of outer mitochondrial membrane", "of outer mitochondrial membrane 7", "outer mitochondrial membrane 7 homolog" ] }, { "record_id": "MONDO:0957954", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957954", "0957954", "mim:620602", "620602" ] }, { "record_id": "MONDO:0957954", "record_type": "disease", "section": "disease_name", "phraselist": [ "lymphatic", "malformation", "14", "lymphatic malformation", "malformation 14", "lymphatic malformation 14" ] }, { "record_id": "MONDO:0957954", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957954", "record_type": "disease", "section": "proteins", "phraselist": [ "p11308", "p11308 4", "erg_human", "np_001129626", "glycoprotein", "erg", "lmphm14", "erg 3", "p55" ] }, { "record_id": "MONDO:0957954", "record_type": "disease", "section": "proteins", "phraselist": [ "transcriptional", "regulator", "erg", "transcriptional regulator", "regulator erg", "transcriptional regulator erg", "ets", "transcription", "factor", "ets transcription", "transcription factor", "erg ets", "ets transcription factor", "erg ets transcription", "erg ets transcription factor", "fus/erg", "fusion", "protein", "fus/erg fusion", "fusion protein", "fus/erg fusion protein", "tmprss2/erg", "tmprss2/erg fusion", "transforming", "transforming protein", "protein erg", "transforming protein erg", "related", "ets related", "erg transforming", "regulator erg transforming", "erg transforming protein", "transcriptional regulator erg transforming", "regulator erg transforming protein", "erg transforming protein erg", "isoform", "erg isoform", "isoform 3", "regulator erg isoform", "erg isoform 3", "transcriptional regulator erg isoform", "regulator erg isoform 3", "transcriptional regulator erg isoform 3", "avian", "erythroblastosis", "virus", "e26", "oncogene", "homolog", "v ets", "ets avian", "avian erythroblastosis", "erythroblastosis virus", "virus e26", "e26 oncogene", "oncogene homolog", "v ets avian", "ets avian erythroblastosis", "avian erythroblastosis virus", "erythroblastosis virus e26", "virus e26 oncogene", "e26 oncogene homolog", "v ets avian erythroblastosis", "ets avian erythroblastosis virus", "avian erythroblastosis virus e26", "erythroblastosis virus e26 oncogene", "virus e26 oncogene homolog", "v ets avian erythroblastosis virus", "ets avian erythroblastosis virus e26", "avian erythroblastosis virus e26 oncogene", "erythroblastosis virus e26 oncogene homolog", "oncogene related", "e26 oncogene related", "virus e26 oncogene related", "erythroblastosis virus e26 oncogene related", "ets erythroblastosis", "v ets erythroblastosis", "ets erythroblastosis virus", "v ets erythroblastosis virus", "ets erythroblastosis virus e26", "v ets erythroblastosis virus e26", "ets erythroblastosis virus e26 oncogene", "like", "oncogene like", "e26 oncogene like", "virus e26 oncogene like", "erythroblastosis virus e26 oncogene like" ] }, { "record_id": "MONDO:0957960", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957960", "0957960", "mim:620609", "620609" ] }, { "record_id": "MONDO:0957960", "record_type": "disease", "section": "disease_name", "phraselist": [ "long", "olsen", "distelmaier", "syndrome", "long olsen", "olsen distelmaier", "distelmaier syndrome", "long olsen distelmaier", "olsen distelmaier syndrome", "long olsen distelmaier syndrome" ] }, { "record_id": "MONDO:0957960", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957960", "record_type": "disease", "section": "proteins", "phraselist": [ "q9hb90", "q9hb90 1", "rragc_human", "np_001258780", "glycoprotein", "rragc", "gtr2", "lngods", "lngos", "ragc", "tib929" ] }, { "record_id": "MONDO:0957960", "record_type": "disease", "section": "proteins", "phraselist": [ "ras", "related", "gtp", "binding", "protein", "ras related", "related gtp", "gtp binding", "binding protein", "protein c", "ras related gtp", "related gtp binding", "gtp binding protein", "binding protein c", "ras related gtp binding", "related gtp binding protein", "gtp binding protein c", "ras related gtp binding protein", "related gtp binding protein c", "3.6.5.", "gtpase", "interacting", "gtpase interacting", "interacting protein", "protein 2", "gtpase interacting protein", "interacting protein 2", "gtpase interacting protein 2", "rag", "rag c", "c protein", "rag c protein", "ragc", "tib929", "isoform", "c isoform", "isoform 2", "protein c isoform", "c isoform 2", "binding protein c isoform", "protein c isoform 2", "gtp binding protein c isoform", "binding protein c isoform 2" ] }, { "record_id": "MONDO:0957961", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957961", "0957961", "mim:620610", "620610" ] }, { "record_id": "MONDO:0957961", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte/zygote/embryo", "maturation", "arrest", "21", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 21", "oocyte/zygote/embryo maturation arrest", "maturation arrest 21", "oocyte/zygote/embryo maturation arrest 21" ] }, { "record_id": "MONDO:0957961", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957961", "record_type": "disease", "section": "proteins", "phraselist": [ "o14757", "o14757 1", "chk1_human", "np_001107593", "glycoprotein", "chek1", "chk1", "ozema21" ] }, { "record_id": "MONDO:0957961", "record_type": "disease", "section": "proteins", "phraselist": [ "serine/threonine", "protein", "kinase", "chk1", "serine/threonine protein", "protein kinase", "kinase chk1", "serine/threonine protein kinase", "protein kinase chk1", "serine/threonine protein kinase chk1", "2.7.11.1", "checkpoint", "homolog", "chk1 checkpoint", "checkpoint homolog", "chk1 checkpoint homolog", "cell", "cycle", "cell cycle", "cycle checkpoint", "checkpoint kinase", "cell cycle checkpoint", "cycle checkpoint kinase", "cell cycle checkpoint kinase", "kinase 1", "checkpoint kinase 1", "s.", "pombe", "of", "s. pombe", "homolog of", "checkpoint s.", "pombe homolog", "of 1", "checkpoint s. pombe", "s. pombe homolog", "pombe homolog of", "homolog of 1", "s. pombe homolog of", "chk1 s", "isoform", "chk1 isoform", "isoform 1", "kinase chk1 isoform", "chk1 isoform 1", "protein kinase chk1 isoform", "kinase chk1 isoform 1", "serine/threonine protein kinase chk1 isoform", "protein kinase chk1 isoform 1" ] }, { "record_id": "MONDO:0957978", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957978", "0957978", "mim:620629", "620629" ] }, { "record_id": "MONDO:0957978", "record_type": "disease", "section": "disease_name", "phraselist": [ "optic", "atrophy", "16", "optic atrophy", "atrophy 16", "optic atrophy 16" ] }, { "record_id": "MONDO:0957978", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957978", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bv79", "q9bv79 1", "mecr_human", "np_001019903", "mecr", "cgi", "63", "cgi 63", "dytoabg", "etr1", "fasn2b", "nbrf1", "nrbf1", "opa16" ] }, { "record_id": "MONDO:0957978", "record_type": "disease", "section": "proteins", "phraselist": [ "enoyl", "acyl", "carrier", "protein", "reductase", "mitochondrial", "acyl carrier", "carrier protein", "enoyl acyl", "acyl carrier protein", "protein reductase", "reductase mitochondrial", "enoyl acyl carrier", "carrier protein reductase", "enoyl acyl carrier protein", "acyl carrier protein reductase", "protein reductase mitochondrial", "1.3.1.104", "thioester", "2 enoyl", "enoyl thioester", "thioester reductase", "2 enoyl thioester", "enoyl thioester reductase", "2 enoyl thioester reductase", "hsnrbf", "hsnrbf 1", "nrbf", "nrbf 1", "nuclear", "receptor", "binding", "factor", "nuclear receptor", "receptor binding", "binding factor", "factor 1", "nuclear receptor binding", "receptor binding factor", "binding factor 1", "nuclear receptor binding factor", "receptor binding factor 1", "nuclear receptor binding factor 1", "isoform", "mitochondrial isoform", "isoform b", "mitochondrial isoform b", "reductase mitochondrial isoform", "reductase mitochondrial isoform b", "homolog", "of", "yeast", "homolog of", "of yeast", "yeast 2", "homolog of yeast", "of yeast 2", "yeast 2 enoyl", "homolog of yeast 2", "of yeast 2 enoyl", "yeast 2 enoyl thioester", "homolog of yeast 2 enoyl", "of yeast 2 enoyl thioester", "yeast 2 enoyl thioester reductase", "mitochondrial 2", "mitochondrial 2 enoyl", "mitochondrial 2 enoyl thioester", "mitochondrial 2 enoyl thioester reductase", "trans", "coa", "trans 2", "enoyl coa", "coa reductase", "trans 2 enoyl", "2 enoyl coa", "enoyl coa reductase", "trans 2 enoyl coa", "2 enoyl coa reductase", "coa reductase mitochondrial", "trans 2 enoyl coa reductase", "enoyl coa reductase mitochondrial" ] }, { "record_id": "MONDO:0957984", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957984", "0957984", "mim:620635", "620635" ] }, { "record_id": "MONDO:0957984", "record_type": "disease", "section": "disease_name", "phraselist": [ "cardiomyopathy", "dilated", "2j", "cardiomyopathy dilated", "dilated 2j", "cardiomyopathy dilated 2j" ] }, { "record_id": "MONDO:0957984", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957984", "record_type": "disease", "section": "proteins", "phraselist": [ "q13045", "q13045 1", "flii_human", "np_001243193", "glycoprotein", "flii", "cmd2j", "flil", "fli", "fli1" ] }, { "record_id": "MONDO:0957984", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "flightless", "homolog", "protein flightless", "flightless 1", "1 homolog", "protein flightless 1", "flightless 1 homolog", "protein flightless 1 homolog", "actin", "binding", "flightless i", "i actin", "actin binding", "binding protein", "flightless i actin", "i actin binding", "actin binding protein", "flightless i actin binding", "i actin binding protein", "flightless i actin binding protein", "i homolog", "flightless i homolog", "isoform", "homolog isoform", "isoform 2", "1 homolog isoform", "homolog isoform 2", "flightless 1 homolog isoform", "1 homolog isoform 2", "protein flightless 1 homolog isoform", "flightless 1 homolog isoform 2" ] }, { "record_id": "MONDO:0957985", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957985", "0957985", "mim:620636", "620636" ] }, { "record_id": "MONDO:0957985", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodegeneration", "childhood", "onset", "with", "cerebellar", "ataxia", "and", "cognitive", "decline", "childhood onset", "with cerebellar", "cerebellar ataxia", "ataxia and", "and cognitive", "cognitive decline", "neurodegeneration childhood", "onset with", "with cerebellar ataxia", "cerebellar ataxia and", "ataxia and cognitive", "and cognitive decline", "neurodegeneration childhood onset", "childhood onset with", "onset with cerebellar", "with cerebellar ataxia and", "cerebellar ataxia and cognitive", "ataxia and cognitive decline", "childhood onset with cerebellar", "onset with cerebellar ataxia", "with cerebellar ataxia and cognitive", "cerebellar ataxia and cognitive decline" ] }, { "record_id": "MONDO:0957985", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957985", "record_type": "disease", "section": "proteins", "phraselist": [ "q14444", "q14444 1", "capr1_human", "np_005889", "glycoprotein", "caprin1", "condcac", "gpiap1", "gpip137", "grip137", "m11s1", "nedlaad", "rng105", "p137gpi" ] }, { "record_id": "MONDO:0957985", "record_type": "disease", "section": "proteins", "phraselist": [ "caprin", "caprin 1", "cell", "cycle", "associated", "protein", "cell cycle", "cycle associated", "associated protein", "protein 1", "cell cycle associated", "cycle associated protein", "associated protein 1", "cell cycle associated protein", "cycle associated protein 1", "cell cycle associated protein 1", "cytoplasmic", "activation", "and", "proliferation", "cytoplasmic activation", "and proliferation", "proliferation associated", "activation and", "and proliferation associated", "proliferation associated protein", "cytoplasmic activation and", "activation and proliferation", "and proliferation associated protein", "proliferation associated protein 1", "cytoplasmic activation and proliferation", "activation and proliferation associated", "and proliferation associated protein 1", "gpi", "anchored", "membrane", "gpi anchored", "anchored membrane", "membrane protein", "gpi anchored membrane", "anchored membrane protein", "membrane protein 1", "gpi anchored membrane protein", "anchored membrane protein 1", "gpi anchored membrane protein 1", "p137", "anchored protein", "protein p137", "gpi anchored protein", "anchored protein p137", "gpi anchored protein p137", "gpi p137", "component", "chromosome", "11", "surface", "marker", "membrane component", "component chromosome", "chromosome 11", "11 surface", "surface marker", "marker 1", "membrane component chromosome", "component chromosome 11", "chromosome 11 surface", "11 surface marker", "surface marker 1", "membrane component chromosome 11", "component chromosome 11 surface", "chromosome 11 surface marker", "11 surface marker 1", "membrane component chromosome 11 surface", "component chromosome 11 surface marker", "chromosome 11 surface marker 1", "rna", "granule", "105", "rna granule", "granule protein", "protein 105", "rna granule protein", "granule protein 105", "rna granule protein 105", "activation/proliferation", "activation/proliferation associated", "activation/proliferation associated protein", "activation/proliferation associated protein 1", "isoform", "1 isoform", "isoform 1", "caprin 1 isoform", "1 isoform 1", "caprin 1 isoform 1", "cytoplasmic activation/proliferation", "cytoplasmic activation/proliferation associated", "cytoplasmic activation/proliferation associated protein", "cytoplasmic activation/proliferation associated protein 1", "p137gpi" ] }, { "record_id": "MONDO:0957988", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957988", "0957988", "mim:620639", "620639" ] }, { "record_id": "MONDO:0957988", "record_type": "disease", "section": "disease_name", "phraselist": [ "osteogenesis", "imperfecta", "type", "23", "osteogenesis imperfecta", "type 23", "imperfecta type", "osteogenesis imperfecta type", "imperfecta type 23", "osteogenesis imperfecta type 23", "imperfecta 23", "osteogenesis imperfecta 23" ] }, { "record_id": "MONDO:0957988", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957988", "record_type": "disease", "section": "proteins", "phraselist": [ "q86uu1", "q86uu1 1", "phlb1_human", "np_001138230", "glycoprotein", "phldb1", "dlnb07", "kiaa0638", "ll5a", "ll5alpha", "oi23" ] }, { "record_id": "MONDO:0957988", "record_type": "disease", "section": "proteins", "phraselist": [ "pleckstrin", "homology", "like", "domain", "family", "member", "pleckstrin homology", "homology like", "like domain", "domain family", "family b", "b member", "member 1", "pleckstrin homology like", "homology like domain", "like domain family", "domain family b", "family b member", "b member 1", "pleckstrin homology like domain", "homology like domain family", "like domain family b", "domain family b member", "family b member 1", "pleckstrin homology like domain family", "homology like domain family b", "like domain family b member", "domain family b member 1", "protein", "ll5", "alpha", "protein ll5", "ll5 alpha", "protein ll5 alpha", "isoform", "1 isoform", "isoform a", "member 1 isoform", "1 isoform a", "b member 1 isoform", "member 1 isoform a", "family b member 1 isoform", "b member 1 isoform a" ] }, { "record_id": "MONDO:0957990", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957990", "0957990", "mim:620641", "620641" ] }, { "record_id": "MONDO:0957990", "record_type": "disease", "section": "disease_name", "phraselist": [ "tan", "almurshedi", "syndrome", "tan almurshedi", "almurshedi syndrome", "tan almurshedi syndrome" ] }, { "record_id": "MONDO:0957990", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957990", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y295", "q9y295 1", "drg1_human", "np_004138", "glycoprotein", "drg1", "nedd3", "tanals" ] }, { "record_id": "MONDO:0957990", "record_type": "disease", "section": "proteins", "phraselist": [ "developmentally", "regulated", "gtp", "binding", "protein", "developmentally regulated", "regulated gtp", "gtp binding", "binding protein", "protein 1", "developmentally regulated gtp", "regulated gtp binding", "gtp binding protein", "binding protein 1", "developmentally regulated gtp binding", "regulated gtp binding protein", "gtp binding protein 1", "developmentally regulated gtp binding protein", "regulated gtp binding protein 1", "3.6.5.", "drg", "drg 1", "nedd", "nedd 3", "neural", "precursor", "cell", "expressed", "down", "neural precursor", "precursor cell", "cell expressed", "expressed developmentally", "developmentally down", "down regulated", "regulated protein", "protein 3", "neural precursor cell", "precursor cell expressed", "cell expressed developmentally", "expressed developmentally down", "developmentally down regulated", "down regulated protein", "regulated protein 3", "neural precursor cell expressed", "precursor cell expressed developmentally", "cell expressed developmentally down", "expressed developmentally down regulated", "developmentally down regulated protein", "down regulated protein 3", "neural precursor cell expressed developmentally", "precursor cell expressed developmentally down", "cell expressed developmentally down regulated", "expressed developmentally down regulated protein", "developmentally down regulated protein 3", "trafac", "gtpase", "drg1", "trafac gtpase", "gtpase drg1", "trafac gtpase drg1", "translation", "factor", "translation factor", "factor gtpase", "translation factor gtpase", "factor gtpase drg1", "translation factor gtpase drg1", "regulated 3", "down regulated 3", "developmentally down regulated 3" ] }, { "record_id": "MONDO:0957991", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957991", "0957991", "mim:620642", "620642" ] }, { "record_id": "MONDO:0957991", "record_type": "disease", "section": "disease_name", "phraselist": [ "ciliary", "dyskinesia", "primary", "53", "ciliary dyskinesia", "dyskinesia primary", "primary 53", "ciliary dyskinesia primary", "dyskinesia primary 53" ] }, { "record_id": "MONDO:0957991", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957991", "record_type": "disease", "section": "proteins", "phraselist": [ "q9hae3", "q9hae3 1", "clxn_human", "np_001136329", "clxn", "cild53", "efcab1", "odad5" ] }, { "record_id": "MONDO:0957991", "record_type": "disease", "section": "proteins", "phraselist": [ "calaxin", "ef", "hand", "calcium", "binding", "domain", "ef hand", "hand calcium", "calcium binding", "binding domain", "domain 1", "ef hand calcium", "hand calcium binding", "calcium binding domain", "binding domain 1", "ef hand calcium binding", "hand calcium binding domain", "calcium binding domain 1", "ef hand calcium binding domain", "hand calcium binding domain 1", "containing", "protein", "domain containing", "containing protein", "protein 1", "binding domain containing", "domain containing protein", "containing protein 1", "calcium binding domain containing", "binding domain containing protein", "domain containing protein 1", "hand calcium binding domain containing", "calcium binding domain containing protein", "binding domain containing protein 1", "isoform", "calaxin isoform", "isoform b", "calaxin isoform b", "outer", "dynein", "arm", "docking", "complex", "subunit", "outer dynein", "dynein arm", "arm docking", "docking complex", "complex subunit", "subunit 5", "outer dynein arm", "dynein arm docking", "arm docking complex", "docking complex subunit", "complex subunit 5", "outer dynein arm docking", "dynein arm docking complex", "arm docking complex subunit", "docking complex subunit 5", "outer dynein arm docking complex", "dynein arm docking complex subunit", "arm docking complex subunit 5" ] }, { "record_id": "MONDO:0957992", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957992", "0957992", "mim:620646", "620646" ] }, { "record_id": "MONDO:0957992", "record_type": "disease", "section": "disease_name", "phraselist": [ "combined", "oxidative", "phosphorylation", "deficiency", "59", "combined oxidative", "oxidative phosphorylation", "phosphorylation deficiency", "deficiency 59", "combined oxidative phosphorylation", "oxidative phosphorylation deficiency", "phosphorylation deficiency 59", "combined oxidative phosphorylation deficiency", "oxidative phosphorylation deficiency 59", "combined oxidative phosphorylation deficiency 59" ] }, { "record_id": "MONDO:0957992", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957992", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nyk5", "q9nyk5 1", "rm39_human", "xp_006724089", "glycoprotein", "mrpl39", "c21orf92", "coxpd59", "l39mt", "l5mt", "mrp", "l5", "mrp l5", "mrpl5", "mstp003", "pred22", "pred66", "rpml5", "ml39" ] }, { "record_id": "MONDO:0957992", "record_type": "disease", "section": "proteins", "phraselist": [ "large", "ribosomal", "subunit", "protein", "ml39", "large ribosomal", "ribosomal subunit", "subunit protein", "protein ml39", "large ribosomal subunit", "ribosomal subunit protein", "subunit protein ml39", "large ribosomal subunit protein", "ribosomal subunit protein ml39", "large ribosomal subunit protein ml39", "39s", "l39", "mitochondrial", "39s ribosomal", "ribosomal protein", "protein l39", "39s ribosomal protein", "ribosomal protein l39", "l39 mitochondrial", "39s ribosomal protein l39", "protein l39 mitochondrial", "ribosomal protein l39 mitochondrial", "l5", "protein l5", "ribosomal protein l5", "l5 mitochondrial", "39s ribosomal protein l5", "protein l5 mitochondrial", "ribosomal protein l5 mitochondrial", "l39mt", "l5mt", "mrp", "mrp l39", "mrp l5", "isoform", "x2", "ml39 isoform", "isoform x2", "protein ml39 isoform", "ml39 isoform x2", "subunit protein ml39 isoform", "protein ml39 isoform x2", "ribosomal subunit protein ml39 isoform", "subunit protein ml39 isoform x2" ] }, { "record_id": "MONDO:0957993", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957993", "0957993", "mim:620647", "620647" ] }, { "record_id": "MONDO:0957993", "record_type": "disease", "section": "disease_name", "phraselist": [ "progressive", "external", "ophthalmoplegia", "with", "mitochondrial", "dna", "deletions", "autosomal", "recessive", "progressive external", "external ophthalmoplegia", "ophthalmoplegia with", "with mitochondrial", "mitochondrial dna", "dna deletions", "autosomal recessive", "recessive 6", "progressive external ophthalmoplegia", "external ophthalmoplegia with", "ophthalmoplegia with mitochondrial", "with mitochondrial dna", "mitochondrial dna deletions", "deletions autosomal", "autosomal recessive 6", "progressive external ophthalmoplegia with", "external ophthalmoplegia with mitochondrial", "ophthalmoplegia with mitochondrial dna", "with mitochondrial dna deletions", "dna deletions autosomal", "deletions autosomal recessive", "progressive external ophthalmoplegia with mitochondrial", "external ophthalmoplegia with mitochondrial dna", "ophthalmoplegia with mitochondrial dna deletions", "mitochondrial dna deletions autosomal", "dna deletions autosomal recessive", "deletions autosomal recessive 6" ] }, { "record_id": "MONDO:0957997", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957997", "0957997", "mim:620651", "620651" ] }, { "record_id": "MONDO:0957997", "record_type": "disease", "section": "disease_name", "phraselist": [ "diabetes", "deafness", "developmental", "delay", "and", "short", "stature", "syndrome", "developmental delay", "and short", "short stature", "stature syndrome", "diabetes deafness", "deafness developmental", "delay and", "and short stature", "short stature syndrome", "deafness developmental delay", "developmental delay and", "delay and short", "and short stature syndrome", "diabetes deafness developmental", "developmental delay and short", "delay and short stature" ] }, { "record_id": "MONDO:0957997", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957997", "record_type": "disease", "section": "proteins", "phraselist": [ "p55145", "p55145 1", "manf_human", "np_006001", "glycoprotein", "manf", "armet", "arp", "ddds" ] }, { "record_id": "MONDO:0957997", "record_type": "disease", "section": "proteins", "phraselist": [ "mesencephalic", "astrocyte", "derived", "neurotrophic", "factor", "mesencephalic astrocyte", "astrocyte derived", "derived neurotrophic", "neurotrophic factor", "mesencephalic astrocyte derived", "astrocyte derived neurotrophic", "derived neurotrophic factor", "mesencephalic astrocyte derived neurotrophic", "astrocyte derived neurotrophic factor", "mesencephalic astrocyte derived neurotrophic factor", "arginine", "rich", "protein", "arginine rich", "rich protein", "arginine rich protein", "armet", "protein armet", "mutated", "in", "early", "stage", "tumors", "mutated in", "in early", "early stage", "stage tumors", "rich mutated", "mutated in early", "in early stage", "early stage tumors", "arginine rich mutated", "rich mutated in", "mutated in early stage", "in early stage tumors", "arginine rich mutated in", "rich mutated in early", "mutated in early stage tumors", "precursor", "factor precursor", "neurotrophic factor precursor", "derived neurotrophic factor precursor", "astrocyte derived neurotrophic factor precursor" ] }, { "record_id": "MONDO:0957999", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0957999", "0957999", "mim:620653", "620653" ] }, { "record_id": "MONDO:0957999", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "autosomal", "recessive", "80", "with", "variant", "lissencephaly", "intellectual developmental", "developmental disorder", "autosomal recessive", "recessive 80", "with variant", "variant lissencephaly", "intellectual developmental disorder", "disorder autosomal", "autosomal recessive 80", "80 with", "with variant lissencephaly", "developmental disorder autosomal", "disorder autosomal recessive", "recessive 80 with", "80 with variant", "intellectual developmental disorder autosomal", "developmental disorder autosomal recessive", "disorder autosomal recessive 80", "autosomal recessive 80 with", "recessive 80 with variant", "80 with variant lissencephaly" ] }, { "record_id": "MONDO:0957999", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0957999", "record_type": "disease", "section": "proteins", "phraselist": [ "p42575", "p42575 1", "casp2_human", "np_001215", "glycoprotein", "casp2", "casp", "casp 2", "ich1", "mrt80", "nedd", "nedd 2", "nedd2", "ppp1r57" ] }, { "record_id": "MONDO:0957999", "record_type": "disease", "section": "proteins", "phraselist": [ "caspase", "caspase 2", "3.4.22.55", "casp", "casp 2", "nedd", "nedd 2", "neural", "precursor", "cell", "expressed", "developmentally", "down", "regulated", "protein", "neural precursor", "precursor cell", "cell expressed", "expressed developmentally", "developmentally down", "down regulated", "regulated protein", "protein 2", "neural precursor cell", "precursor cell expressed", "cell expressed developmentally", "expressed developmentally down", "developmentally down regulated", "down regulated protein", "regulated protein 2", "neural precursor cell expressed", "precursor cell expressed developmentally", "cell expressed developmentally down", "expressed developmentally down regulated", "developmentally down regulated protein", "down regulated protein 2", "neural precursor cell expressed developmentally", "precursor cell expressed developmentally down", "cell expressed developmentally down regulated", "expressed developmentally down regulated protein", "developmentally down regulated protein 2", "protease", "ich", "protease ich", "ich 1", "protease ich 1", "apoptosis", "related", "cysteine", "peptidase", "2 apoptosis", "apoptosis related", "related cysteine", "cysteine peptidase", "caspase 2 apoptosis", "2 apoptosis related", "apoptosis related cysteine", "related cysteine peptidase", "caspase 2 apoptosis related", "2 apoptosis related cysteine", "apoptosis related cysteine peptidase", "caspase 2 apoptosis related cysteine", "2 apoptosis related cysteine peptidase", "isoform", "2 isoform", "isoform 2", "caspase 2 isoform", "2 isoform 2", "caspase 2 isoform 2", "phosphatase", "regulatory", "subunit", "57", "protein phosphatase", "phosphatase 1", "regulatory subunit", "subunit 57", "protein phosphatase 1", "1 regulatory", "regulatory subunit 57", "phosphatase 1 regulatory", "1 regulatory subunit", "protein phosphatase 1 regulatory", "phosphatase 1 regulatory subunit", "1 regulatory subunit 57" ] }, { "record_id": "MONDO:0958000", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958000", "0958000", "mim:620654", "620654" ] }, { "record_id": "MONDO:0958000", "record_type": "disease", "section": "disease_name", "phraselist": [ "thrombocytopenia", "11", "with", "multiple", "congenital", "anomalies", "and", "dysmorphic", "facies", "thrombocytopenia 11", "11 with", "with multiple", "multiple congenital", "congenital anomalies", "anomalies and", "and dysmorphic", "dysmorphic facies", "thrombocytopenia 11 with", "11 with multiple", "with multiple congenital", "multiple congenital anomalies", "congenital anomalies and", "anomalies and dysmorphic", "and dysmorphic facies", "thrombocytopenia 11 with multiple", "11 with multiple congenital", "with multiple congenital anomalies", "multiple congenital anomalies and", "congenital anomalies and dysmorphic", "anomalies and dysmorphic facies", "thrombocytopenia 11 with multiple congenital", "11 with multiple congenital anomalies", "with multiple congenital anomalies and", "multiple congenital anomalies and dysmorphic", "congenital anomalies and dysmorphic facies" ] }, { "record_id": "MONDO:0958000", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958000", "record_type": "disease", "section": "proteins", "phraselist": [ "p61224", "p61224 1", "rap1b_human", "np_001010942", "glycoprotein", "rap1b", "rev", "k rev", "ral1b", "sw", "cl.11", "sw cl.11", "thc11" ] }, { "record_id": "MONDO:0958000", "record_type": "disease", "section": "proteins", "phraselist": [ "ras", "related", "protein", "rap", "1b", "ras related", "related protein", "protein rap", "rap 1b", "ras related protein", "related protein rap", "protein rap 1b", "ras related protein rap", "related protein rap 1b", "ras related protein rap 1b", "3.6.5.2", "gtp", "binding", "smg", "p21b", "gtp binding", "binding protein", "protein smg", "smg p21b", "gtp binding protein", "binding protein smg", "protein smg p21b", "gtp binding protein smg", "binding protein smg p21b", "gtp binding protein smg p21b", "rap1b", "protein rap1b", "related protein rap1b", "ras related protein rap1b", "family", "small", "ras family", "family small", "small gtp", "ras family small", "family small gtp", "small gtp binding", "binding protein rap1b", "ras family small gtp", "family small gtp binding", "small gtp binding protein", "gtp binding protein rap1b", "ras family small gtp binding", "family small gtp binding protein", "small gtp binding protein rap1b", "isoform", "precursor", "1b isoform", "isoform 1", "1 precursor", "rap 1b isoform", "1b isoform 1", "isoform 1 precursor", "protein rap 1b isoform", "rap 1b isoform 1", "1b isoform 1 precursor", "related protein rap 1b isoform", "protein rap 1b isoform 1", "rap 1b isoform 1 precursor" ] }, { "record_id": "MONDO:0958001", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958001", "0958001", "mim:620655", "620655" ] }, { "record_id": "MONDO:0958001", "record_type": "disease", "section": "disease_name", "phraselist": [ "alfadhel", "syndrome", "alfadhel syndrome" ] }, { "record_id": "MONDO:0958001", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958001", "record_type": "disease", "section": "proteins", "phraselist": [ "p52306", "p52306 1", "gds1_human", "np_001093896", "glycoprotein", "rap1gds1", "gds1", "smggds" ] }, { "record_id": "MONDO:0958001", "record_type": "disease", "section": "proteins", "phraselist": [ "rap1", "gtpase", "gdp", "dissociation", "stimulator", "rap1 gtpase", "gtpase gdp", "gdp dissociation", "dissociation stimulator", "stimulator 1", "rap1 gtpase gdp", "gtpase gdp dissociation", "gdp dissociation stimulator", "dissociation stimulator 1", "rap1 gtpase gdp dissociation", "gtpase gdp dissociation stimulator", "gdp dissociation stimulator 1", "rap1 gtpase gdp dissociation stimulator", "gtpase gdp dissociation stimulator 1", "exchange", "factor", "smggds", "exchange factor", "factor smggds", "exchange factor smggds", "gtp", "gtp gdp", "rap1 gtp", "gtp gdp dissociation", "rap1 gtp gdp", "gtp gdp dissociation stimulator", "rap1 gtp gdp dissociation", "gtp gdp dissociation stimulator 1", "smg", "gds", "protein", "smg gds", "gds protein", "smg gds protein", "p21", "stimulatory", "gdp/gtp", "smg p21", "p21 stimulatory", "stimulatory gdp/gtp", "gdp/gtp exchange", "exchange protein", "smg p21 stimulatory", "p21 stimulatory gdp/gtp", "stimulatory gdp/gtp exchange", "gdp/gtp exchange protein", "smg p21 stimulatory gdp/gtp", "p21 stimulatory gdp/gtp exchange", "stimulatory gdp/gtp exchange protein", "smg p21 stimulatory gdp/gtp exchange", "p21 stimulatory gdp/gtp exchange protein", "isoform", "1 isoform", "isoform 1", "stimulator 1 isoform", "1 isoform 1", "dissociation stimulator 1 isoform", "stimulator 1 isoform 1", "gdp dissociation stimulator 1 isoform", "dissociation stimulator 1 isoform 1" ] }, { "record_id": "MONDO:0958005", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958005", "0958005", "mim:620662", "620662" ] }, { "record_id": "MONDO:0958005", "record_type": "disease", "section": "disease_name", "phraselist": [ "hoxha", "aliu", "syndrome", "hoxha aliu", "aliu syndrome", "hoxha aliu syndrome" ] }, { "record_id": "MONDO:0958005", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958005", "record_type": "disease", "section": "proteins", "phraselist": [ "q8iv48", "q8iv48 1", "eri1_human", "np_699163", "glycoprotein", "eri1", "3'exo", "3'hexo", "hexo", "hxal", "semdgc", "semdgs", "thex1" ] }, { "record_id": "MONDO:0958005", "record_type": "disease", "section": "proteins", "phraselist": [ "3'", "5'", "exoribonuclease", "3' 5'", "5' exoribonuclease", "exoribonuclease 1", "3' 5' exoribonuclease", "5' exoribonuclease 1", "3' 5' exoribonuclease 1", "3' exoribonuclease", "exonuclease", "eri1", "5' exonuclease", "exonuclease eri1", "3' 5' exonuclease", "5' exonuclease eri1", "3' 5' exonuclease eri1", "isoform", "1 isoform", "isoform 1", "exoribonuclease 1 isoform", "1 isoform 1", "5' exoribonuclease 1 isoform", "exoribonuclease 1 isoform 1", "3' 5' exoribonuclease 1 isoform", "5' exoribonuclease 1 isoform 1", "3.1.13.1", "eri", "homolog", "eri 1", "1 homolog", "eri 1 homolog", "hexo", "histone", "mrna", "end", "specific", "histone mrna", "mrna 3'", "3' end", "end specific", "specific exoribonuclease", "histone mrna 3'", "mrna 3' end", "3' end specific", "end specific exoribonuclease", "histone mrna 3' end", "mrna 3' end specific", "3' end specific exoribonuclease", "histone mrna 3' end specific", "mrna 3' end specific exoribonuclease", "3' exonuclease", "exonuclease 1", "mrna 3' exonuclease", "3' exonuclease 1", "histone mrna 3' exonuclease", "mrna 3' exonuclease 1", "histone mrna 3' exonuclease 1", "protein", "3'hexo", "protein 3'hexo", "enhanced", "rnai", "three", "prime", "enhanced rnai", "rnai three", "three prime", "prime mrna", "mrna exonuclease", "exonuclease homolog", "homolog 1", "enhanced rnai three", "rnai three prime", "three prime mrna", "prime mrna exonuclease", "mrna exonuclease homolog", "exonuclease homolog 1", "enhanced rnai three prime", "rnai three prime mrna", "three prime mrna exonuclease", "prime mrna exonuclease homolog", "mrna exonuclease homolog 1", "enhanced rnai three prime mrna", "rnai three prime mrna exonuclease", "three prime mrna exonuclease homolog", "prime mrna exonuclease homolog 1", "specific exonuclease", "end specific exonuclease", "3' end specific exonuclease", "mrna 3' end specific exonuclease", "prime histone", "three prime histone", "prime histone mrna", "histone mrna exonuclease", "mrna exonuclease 1", "three prime histone mrna", "prime histone mrna exonuclease", "histone mrna exonuclease 1", "three prime histone mrna exonuclease", "prime histone mrna exonuclease 1", "prime mrna exonuclease 1", "three prime mrna exonuclease 1" ] }, { "record_id": "MONDO:0958006", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958006", "0958006", "mim:620663", "620663" ] }, { "record_id": "MONDO:0958006", "record_type": "disease", "section": "disease_name", "phraselist": [ "spondyloepimetaphyseal", "dysplasia", "guo", "campeau", "type", "spondyloepimetaphyseal dysplasia", "guo campeau", "campeau type", "dysplasia guo", "guo campeau type", "spondyloepimetaphyseal dysplasia guo", "dysplasia guo campeau", "spondyloepimetaphyseal dysplasia guo campeau", "dysplasia guo campeau type" ] }, { "record_id": "MONDO:0958006", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958006", "record_type": "disease", "section": "proteins", "phraselist": [ "q8iv48", "q8iv48 1", "eri1_human", "np_699163", "glycoprotein", "eri1", "3'exo", "3'hexo", "hexo", "hxal", "semdgc", "semdgs", "thex1" ] }, { "record_id": "MONDO:0958006", "record_type": "disease", "section": "proteins", "phraselist": [ "3'", "5'", "exoribonuclease", "3' 5'", "5' exoribonuclease", "exoribonuclease 1", "3' 5' exoribonuclease", "5' exoribonuclease 1", "3' 5' exoribonuclease 1", "3' exoribonuclease", "exonuclease", "eri1", "5' exonuclease", "exonuclease eri1", "3' 5' exonuclease", "5' exonuclease eri1", "3' 5' exonuclease eri1", "isoform", "1 isoform", "isoform 1", "exoribonuclease 1 isoform", "1 isoform 1", "5' exoribonuclease 1 isoform", "exoribonuclease 1 isoform 1", "3' 5' exoribonuclease 1 isoform", "5' exoribonuclease 1 isoform 1", "3.1.13.1", "eri", "homolog", "eri 1", "1 homolog", "eri 1 homolog", "hexo", "histone", "mrna", "end", "specific", "histone mrna", "mrna 3'", "3' end", "end specific", "specific exoribonuclease", "histone mrna 3'", "mrna 3' end", "3' end specific", "end specific exoribonuclease", "histone mrna 3' end", "mrna 3' end specific", "3' end specific exoribonuclease", "histone mrna 3' end specific", "mrna 3' end specific exoribonuclease", "3' exonuclease", "exonuclease 1", "mrna 3' exonuclease", "3' exonuclease 1", "histone mrna 3' exonuclease", "mrna 3' exonuclease 1", "histone mrna 3' exonuclease 1", "protein", "3'hexo", "protein 3'hexo", "enhanced", "rnai", "three", "prime", "enhanced rnai", "rnai three", "three prime", "prime mrna", "mrna exonuclease", "exonuclease homolog", "homolog 1", "enhanced rnai three", "rnai three prime", "three prime mrna", "prime mrna exonuclease", "mrna exonuclease homolog", "exonuclease homolog 1", "enhanced rnai three prime", "rnai three prime mrna", "three prime mrna exonuclease", "prime mrna exonuclease homolog", "mrna exonuclease homolog 1", "enhanced rnai three prime mrna", "rnai three prime mrna exonuclease", "three prime mrna exonuclease homolog", "prime mrna exonuclease homolog 1", "specific exonuclease", "end specific exonuclease", "3' end specific exonuclease", "mrna 3' end specific exonuclease", "prime histone", "three prime histone", "prime histone mrna", "histone mrna exonuclease", "mrna exonuclease 1", "three prime histone mrna", "prime histone mrna exonuclease", "histone mrna exonuclease 1", "three prime histone mrna exonuclease", "prime histone mrna exonuclease 1", "prime mrna exonuclease 1", "three prime mrna exonuclease 1" ] }, { "record_id": "MONDO:0958009", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958009", "0958009", "mim:620666", "620666" ] }, { "record_id": "MONDO:0958009", "record_type": "disease", "section": "disease_name", "phraselist": [ "spastic", "ataxia", "10", "autosomal", "recessive", "spastic ataxia", "ataxia 10", "autosomal recessive", "spastic ataxia 10", "10 autosomal", "ataxia 10 autosomal", "10 autosomal recessive", "spastic ataxia 10 autosomal", "ataxia 10 autosomal recessive" ] }, { "record_id": "MONDO:0958009", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958009", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y3a0", "q9y3a0 1", "coq4_human", "np_057119", "glycoprotein", "coq4", "cgi", "92", "cgi 92", "coq10d7", "spax10" ] }, { "record_id": "MONDO:0958009", "record_type": "disease", "section": "proteins", "phraselist": [ "ubiquinone", "biosynthesis", "protein", "coq4", "homolog", "mitochondrial", "ubiquinone biosynthesis", "biosynthesis protein", "protein coq4", "coq4 homolog", "ubiquinone biosynthesis protein", "biosynthesis protein coq4", "protein coq4 homolog", "homolog mitochondrial", "ubiquinone biosynthesis protein coq4", "biosynthesis protein coq4 homolog", "coq4 homolog mitochondrial", "ubiquinone biosynthesis protein coq4 homolog", "protein coq4 homolog mitochondrial", "hydroxy", "methoxy", "polyprenylbenzoate", "decarboxylase", "4 hydroxy", "hydroxy 3", "3 methoxy", "methoxy 5", "5 polyprenylbenzoate", "polyprenylbenzoate decarboxylase", "4 hydroxy 3", "hydroxy 3 methoxy", "3 methoxy 5", "methoxy 5 polyprenylbenzoate", "5 polyprenylbenzoate decarboxylase", "4 hydroxy 3 methoxy", "hydroxy 3 methoxy 5", "3 methoxy 5 polyprenylbenzoate", "methoxy 5 polyprenylbenzoate decarboxylase", "4 hydroxy 3 methoxy 5", "hydroxy 3 methoxy 5 polyprenylbenzoate", "3 methoxy 5 polyprenylbenzoate decarboxylase", "4.1.1.130", "coenzyme", "coenzyme q", "q biosynthesis", "protein 4", "4 homolog", "coenzyme q biosynthesis", "q biosynthesis protein", "biosynthesis protein 4", "protein 4 homolog", "coenzyme q biosynthesis protein", "q biosynthesis protein 4", "biosynthesis protein 4 homolog", "coenzyme q biosynthesis protein 4", "q biosynthesis protein 4 homolog", "q4", "coenzyme q4", "q4 homolog", "coenzyme q4 homolog", "isoform", "precursor", "mitochondrial isoform", "isoform 1", "1 precursor", "mitochondrial isoform 1", "isoform 1 precursor", "homolog mitochondrial isoform", "mitochondrial isoform 1 precursor", "coq4 homolog mitochondrial isoform", "homolog mitochondrial isoform 1" ] }, { "record_id": "MONDO:0958012", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958012", "0958012", "mim:620669", "620669" ] }, { "record_id": "MONDO:0958012", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodegeneration", "with", "brain", "iron", "accumulation", "neurodegeneration with", "with brain", "brain iron", "iron accumulation", "accumulation 9", "neurodegeneration with brain", "with brain iron", "brain iron accumulation", "iron accumulation 9", "neurodegeneration with brain iron", "with brain iron accumulation", "brain iron accumulation 9", "neurodegeneration with brain iron accumulation", "with brain iron accumulation 9" ] }, { "record_id": "MONDO:0958012", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958012", "record_type": "disease", "section": "proteins", "phraselist": [ "p02794", "p02794 1", "frih_human", "np_002023", "glycoprotein", "fth1", "fhc", "fthl6", "fth", "hfe5", "nbia9", "pig15", "plif", "sw", "cl.84", "sw cl.84" ] }, { "record_id": "MONDO:0958012", "record_type": "disease", "section": "proteins", "phraselist": [ "ferritin", "heavy", "chain", "ferritin heavy", "heavy chain", "ferritin heavy chain", "1.16.3.1", "cell", "proliferation", "inducing", "gene", "15", "protein", "cell proliferation", "proliferation inducing", "inducing gene", "gene 15", "15 protein", "cell proliferation inducing", "proliferation inducing gene", "inducing gene 15", "gene 15 protein", "cell proliferation inducing gene", "proliferation inducing gene 15", "inducing gene 15 protein", "cell proliferation inducing gene 15", "proliferation inducing gene 15 protein", "subunit", "ferritin h", "h subunit", "ferritin h subunit", "h ferritin", "apoferritin", "polypeptide", "heavy polypeptide", "polypeptide 1", "heavy polypeptide 1", "ferritin heavy polypeptide", "ferritin heavy polypeptide 1", "placenta", "immunoregulatory", "factor", "placenta immunoregulatory", "immunoregulatory factor", "placenta immunoregulatory factor", "inducing protein", "protein 15", "proliferation inducing protein", "inducing protein 15", "proliferation inducing protein 15" ] }, { "record_id": "MONDO:0958013", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958013", "0958013", "mim:620670", "620670" ] }, { "record_id": "MONDO:0958013", "record_type": "disease", "section": "disease_name", "phraselist": [ "immunodeficiency", "common", "variable", "15", "common variable", "immunodeficiency common", "variable 15", "immunodeficiency common variable", "common variable 15" ] }, { "record_id": "MONDO:0958013", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958013", "record_type": "disease", "section": "proteins", "phraselist": [ "p61619", "p61619 1", "s61a1_human", "np_037468", "glycoprotein", "sec61a1", "adtkd5", "cvid15", "hnfj4", "hsec61", "sec61a", "sec61" ] }, { "record_id": "MONDO:0958013", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "transport", "sec61", "subunit", "alpha", "isoform", "protein transport", "transport protein", "protein sec61", "sec61 subunit", "subunit alpha", "alpha isoform", "isoform 1", "protein transport protein", "transport protein sec61", "protein sec61 subunit", "sec61 subunit alpha", "subunit alpha isoform", "alpha isoform 1", "protein transport protein sec61", "transport protein sec61 subunit", "protein sec61 subunit alpha", "sec61 subunit alpha isoform", "subunit alpha isoform 1", "protein transport protein sec61 subunit", "transport protein sec61 subunit alpha", "protein sec61 subunit alpha isoform", "sec61 subunit alpha isoform 1", "translocon", "sec61 translocon", "translocon alpha", "alpha 1", "1 subunit", "sec61 translocon alpha", "translocon alpha 1", "alpha 1 subunit", "sec61 translocon alpha 1", "translocon alpha 1 subunit", "sec61 translocon alpha 1 subunit", "sec61 alpha", "sec61 alpha 1", "sec61 alpha 1 subunit", "alpha subunit", "protein sec61 alpha", "sec61 alpha subunit", "transport protein sec61 alpha", "protein sec61 alpha subunit", "protein transport protein sec61 alpha", "transport protein sec61 alpha subunit", "1 isoform", "isoform 1 isoform", "1 isoform 1", "alpha isoform 1 isoform", "isoform 1 isoform 1", "subunit alpha isoform 1 isoform", "alpha isoform 1 isoform 1", "homolog", "sec61 homolog" ] }, { "record_id": "MONDO:0958017", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958017", "0958017", "mim:620674", "620674" ] }, { "record_id": "MONDO:0958017", "record_type": "disease", "section": "disease_name", "phraselist": [ "neutropenia", "severe", "congenital", "11", "autosomal", "dominant", "severe congenital", "autosomal dominant", "neutropenia severe", "congenital 11", "11 autosomal", "neutropenia severe congenital", "severe congenital 11", "11 autosomal dominant", "congenital 11 autosomal" ] }, { "record_id": "MONDO:0958017", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958017", "record_type": "disease", "section": "proteins", "phraselist": [ "p61619", "p61619 1", "s61a1_human", "np_037468", "glycoprotein", "sec61a1", "adtkd5", "cvid15", "hnfj4", "hsec61", "sec61a", "sec61" ] }, { "record_id": "MONDO:0958017", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "transport", "sec61", "subunit", "alpha", "isoform", "protein transport", "transport protein", "protein sec61", "sec61 subunit", "subunit alpha", "alpha isoform", "isoform 1", "protein transport protein", "transport protein sec61", "protein sec61 subunit", "sec61 subunit alpha", "subunit alpha isoform", "alpha isoform 1", "protein transport protein sec61", "transport protein sec61 subunit", "protein sec61 subunit alpha", "sec61 subunit alpha isoform", "subunit alpha isoform 1", "protein transport protein sec61 subunit", "transport protein sec61 subunit alpha", "protein sec61 subunit alpha isoform", "sec61 subunit alpha isoform 1", "translocon", "sec61 translocon", "translocon alpha", "alpha 1", "1 subunit", "sec61 translocon alpha", "translocon alpha 1", "alpha 1 subunit", "sec61 translocon alpha 1", "translocon alpha 1 subunit", "sec61 translocon alpha 1 subunit", "sec61 alpha", "sec61 alpha 1", "sec61 alpha 1 subunit", "alpha subunit", "protein sec61 alpha", "sec61 alpha subunit", "transport protein sec61 alpha", "protein sec61 alpha subunit", "protein transport protein sec61 alpha", "transport protein sec61 alpha subunit", "1 isoform", "isoform 1 isoform", "1 isoform 1", "alpha isoform 1 isoform", "isoform 1 isoform 1", "subunit alpha isoform 1 isoform", "alpha isoform 1 isoform 1", "homolog", "sec61 homolog" ] }, { "record_id": "MONDO:0958018", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958018", "0958018", "mim:620675", "620675" ] }, { "record_id": "MONDO:0958018", "record_type": "disease", "section": "disease_name", "phraselist": [ "leukodystrophy", "hypomyelinating", "27", "leukodystrophy hypomyelinating", "hypomyelinating 27", "leukodystrophy hypomyelinating 27" ] }, { "record_id": "MONDO:0958018", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958018", "record_type": "disease", "section": "proteins", "phraselist": [ "o95602", "o95602 1", "rpa1_human", "np_056240", "glycoprotein", "polr1a", "a190", "afdcin", "hld27", "rpa190", "rpa194", "rpa1", "rpo1", "rpo1 4", "rpo14" ] }, { "record_id": "MONDO:0958018", "record_type": "disease", "section": "proteins", "phraselist": [ "dna", "directed", "rna", "polymerase", "subunit", "rpa1", "dna directed", "directed rna", "rna polymerase", "polymerase i", "i subunit", "subunit rpa1", "dna directed rna", "directed rna polymerase", "rna polymerase i", "polymerase i subunit", "i subunit rpa1", "dna directed rna polymerase", "directed rna polymerase i", "rna polymerase i subunit", "polymerase i subunit rpa1", "dna directed rna polymerase i", "directed rna polymerase i subunit", "rna polymerase i subunit rpa1", "2.7.7.6", "a190", "largest", "i largest", "largest subunit", "polymerase i largest", "i largest subunit", "rna polymerase i largest", "polymerase i largest subunit", "directed rna polymerase i largest", "rna polymerase i largest subunit", "a1", "subunit a1", "i subunit a1", "polymerase i subunit a1", "rna polymerase i subunit a1", "subunit a", "i subunit a", "polymerase i subunit a", "rna polymerase i subunit a", "194", "kda", "i 194", "194 kda", "kda subunit", "polymerase i 194", "i 194 kda", "194 kda subunit", "rna polymerase i 194", "polymerase i 194 kda", "i 194 kda subunit", "rna polymerase i 194 kda", "polymerase i 194 kda subunit", "rpa194", "polypeptide", "194kda", "i polypeptide", "polypeptide a", "polymerase rna", "rna i", "i polypeptide a", "a 194kda", "rna i polypeptide", "polypeptide a 194kda", "polymerase rna i", "rna i polypeptide a", "i polypeptide a 194kda", "rna i subunit", "rna i subunit a" ] }, { "record_id": "MONDO:0958022", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958022", "0958022", "mim:620679", "620679" ] }, { "record_id": "MONDO:0958022", "record_type": "disease", "section": "disease_name", "phraselist": [ "lipodystrophy", "familial", "partial", "type", "familial partial", "type 8", "lipodystrophy familial", "partial type", "lipodystrophy familial partial", "familial partial type", "partial type 8", "familial partial type 8", "partial 8", "familial partial 8" ] }, { "record_id": "MONDO:0958022", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958022", "record_type": "disease", "section": "proteins", "phraselist": [ "p08913", "p08913 1", "ada2a_human", "np_000672", "glycoprotein", "adra2a", "adra2r", "adra2", "adrar", "alpha2aar", "fpld8" ] }, { "record_id": "MONDO:0958022", "record_type": "disease", "section": "proteins", "phraselist": [ "alpha", "2a", "adrenergic", "receptor", "alpha 2a", "2a adrenergic", "adrenergic receptor", "alpha 2a adrenergic", "2a adrenergic receptor", "alpha 2a adrenergic receptor", "subtype", "c10", "alpha 2", "2 adrenergic", "receptor subtype", "subtype c10", "alpha 2 adrenergic", "2 adrenergic receptor", "adrenergic receptor subtype", "receptor subtype c10", "alpha 2 adrenergic receptor", "2 adrenergic receptor subtype", "adrenergic receptor subtype c10", "alpha 2 adrenergic receptor subtype", "2 adrenergic receptor subtype c10", "adrenoceptor", "2a adrenoceptor", "alpha 2a adrenoceptor", "adrenoreceptor", "2a adrenoreceptor", "alpha 2a adrenoreceptor", "2aar", "alpha 2aar", "adrenergic alpha", "adrenergic alpha 2a", "2a receptor", "alpha 2a receptor", "platelet", "type", "platelet type", "receptor platelet", "adrenergic receptor platelet", "receptor platelet type", "2 adrenergic receptor platelet", "adrenergic receptor platelet type", "2aar subtype", "alpha 2aar subtype", "2aar subtype c10", "alpha 2aar subtype c10" ] }, { "record_id": "MONDO:0958023", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958023", "0958023", "mim:620680", "620680" ] }, { "record_id": "MONDO:0958023", "record_type": "disease", "section": "disease_name", "phraselist": [ "lipodystrophy", "congenital", "generalized", "type", "congenital generalized", "type 5", "lipodystrophy congenital", "generalized type", "lipodystrophy congenital generalized", "congenital generalized type", "generalized type 5", "congenital generalized type 5", "generalized 5", "congenital generalized 5" ] }, { "record_id": "MONDO:0958023", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958023", "record_type": "disease", "section": "proteins", "phraselist": [ "p49585", "p49585 1", "pcy1a_human", "np_001299602", "glycoprotein", "pcyt1a", "ccta", "cctalpha", "cgl5", "cta", "ctpct", "ct", "pcyt1", "smdcrd" ] }, { "record_id": "MONDO:0958023", "record_type": "disease", "section": "proteins", "phraselist": [ "choline", "phosphate", "cytidylyltransferase", "choline phosphate", "phosphate cytidylyltransferase", "cytidylyltransferase a", "choline phosphate cytidylyltransferase", "phosphate cytidylyltransferase a", "choline phosphate cytidylyltransferase a", "2.7.7.15", "cct", "cct a", "alpha", "cct alpha", "ct", "ct a", "ctp:phosphocholine", "ctp:phosphocholine cytidylyltransferase", "ctp:phosphocholine cytidylyltransferase a", "cytidylyltransferase alpha", "ctp:phosphocholine cytidylyltransferase alpha", "phosphorylcholine", "transferase", "phosphorylcholine transferase", "transferase a", "phosphorylcholine transferase a", "phosphate cytidylyltransferase alpha", "choline phosphate cytidylyltransferase alpha", "cytidylyltransferase 1", "phosphate cytidylyltransferase 1", "1 choline", "choline alpha", "cytidylyltransferase 1 choline", "phosphate cytidylyltransferase 1 choline", "1 choline alpha", "transferase alpha", "phosphorylcholine transferase alpha" ] }, { "record_id": "MONDO:0958034", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958034", "0958034", "mim:620683", "620683" ] }, { "record_id": "MONDO:0958034", "record_type": "disease", "section": "disease_name", "phraselist": [ "lipodystrophy", "familial", "partial", "type", "familial partial", "type 9", "lipodystrophy familial", "partial type", "lipodystrophy familial partial", "familial partial type", "partial type 9", "familial partial type 9", "partial 9", "familial partial 9" ] }, { "record_id": "MONDO:0958034", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958034", "record_type": "disease", "section": "proteins", "phraselist": [ "p53816", "p53816 1", "plat3_human", "np_001121675", "plaat3", "adpla", "fpld9", "rev107", "h rev107", "rev107 1", "h rev107 1", "hrasls3", "hrev107", "hrev107 1", "hrev107 3", "hrsl3", "pla2g16", "plaat", "plaat 3" ] }, { "record_id": "MONDO:0958034", "record_type": "disease", "section": "proteins", "phraselist": [ "phospholipase", "and", "acyltransferase", "phospholipase a", "a and", "and acyltransferase", "acyltransferase 3", "phospholipase a and", "a and acyltransferase", "and acyltransferase 3", "phospholipase a and acyltransferase", "a and acyltransferase 3", "phospholipase a and acyltransferase 3", "2.3.1.", "3.1.1.32", "3.1.1.4", "adpla", "adipose", "specific", "a2", "adipose specific", "specific phospholipase", "phospholipase a2", "adipose specific phospholipase", "specific phospholipase a2", "adipose specific phospholipase a2", "ca", "independent", "a1/2", "ca independent", "independent phospholipase", "phospholipase a1/2", "ca independent phospholipase", "independent phospholipase a1/2", "ca independent phospholipase a1/2", "group", "xvi", "a1/a2", "group xvi", "xvi phospholipase", "phospholipase a1/a2", "group xvi phospholipase", "xvi phospholipase a1/a2", "group xvi phospholipase a1/a2", "rev107", "h rev107", "rev", "107", "protein", "homolog", "h rev", "rev 107", "107 protein", "protein homolog", "h rev 107", "rev 107 protein", "107 protein homolog", "h rev 107 protein", "rev 107 protein homolog", "h rev 107 protein homolog", "hras", "like", "suppressor", "hras like", "like suppressor", "suppressor 1", "hras like suppressor", "like suppressor 1", "hras like suppressor 1", "suppressor 3", "like suppressor 3", "hras like suppressor 3", "hrev107", "hrev107 1", "hrev107 3", "hrsl3", "renal", "carcinoma", "antigen", "ny", "ren", "65", "renal carcinoma", "carcinoma antigen", "antigen ny", "ny ren", "ren 65", "renal carcinoma antigen", "carcinoma antigen ny", "antigen ny ren", "ny ren 65", "renal carcinoma antigen ny", "carcinoma antigen ny ren", "antigen ny ren 65", "renal carcinoma antigen ny ren", "carcinoma antigen ny ren 65", "pla2", "specific pla2", "adipose specific pla2", "xvi phospholipase a2", "group xvi phospholipase a2", "a/acyltransferase", "phospholipase a/acyltransferase", "a/acyltransferase 3", "phospholipase a/acyltransferase 3", "a2 group", "phospholipase a2 group", "a2 group xvi", "phospholipase a2 group xvi" ] }, { "record_id": "MONDO:0958035", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958035", "0958035", "mim:620686", "620686" ] }, { "record_id": "MONDO:0958035", "record_type": "disease", "section": "disease_name", "phraselist": [ "premature", "ovarian", "failure", "23", "premature ovarian", "ovarian failure", "failure 23", "premature ovarian failure", "ovarian failure 23", "premature ovarian failure 23" ] }, { "record_id": "MONDO:0958035", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958035", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n635", "q8n635 1", "meiob_human", "np_001157032", "glycoprotein", "meiob", "c16orf73", "pof23", "spgf22", "gs129" ] }, { "record_id": "MONDO:0958035", "record_type": "disease", "section": "proteins", "phraselist": [ "meiosis", "specific", "with", "ob", "domain", "containing", "protein", "meiosis specific", "specific with", "with ob", "ob domain", "domain containing", "containing protein", "meiosis specific with", "specific with ob", "with ob domain", "ob domain containing", "domain containing protein", "meiosis specific with ob", "specific with ob domain", "with ob domain containing", "ob domain containing protein", "meiosis specific with ob domain", "specific with ob domain containing", "with ob domain containing protein", "3.1.", "3.1. .", "domains", "ob domains", "with ob domains", "specific with ob domains", "meiosis specific with ob domains", "isoform", "protein isoform", "isoform 1", "containing protein isoform", "protein isoform 1", "domain containing protein isoform", "containing protein isoform 1", "ob domain containing protein isoform", "domain containing protein isoform 1" ] }, { "record_id": "MONDO:0958037", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958037", "0958037", "mim:620690", "620690" ] }, { "record_id": "MONDO:0958037", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "dysplasia", "of", "the", "hip", "developmental dysplasia", "dysplasia of", "of the", "the hip", "hip 3", "developmental dysplasia of", "dysplasia of the", "of the hip", "the hip 3", "developmental dysplasia of the", "dysplasia of the hip", "of the hip 3", "developmental dysplasia of the hip", "dysplasia of the hip 3" ] }, { "record_id": "MONDO:0958037", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958037", "record_type": "disease", "section": "proteins", "phraselist": [ "q07954", "q07954 1", "lrp1_human", "np_002323", "glycoprotein", "lrp1", "a2mr", "apoer", "apr", "cd91", "ddh3", "igfbp", "3r", "igfbp 3r", "igfbp3r1", "igfbp3r", "kpa", "lrp1a", "lrp", "tgfbr5" ] }, { "record_id": "MONDO:0958037", "record_type": "disease", "section": "proteins", "phraselist": [ "prolow", "density", "lipoprotein", "receptor", "related", "protein", "prolow density", "density lipoprotein", "lipoprotein receptor", "receptor related", "related protein", "protein 1", "prolow density lipoprotein", "density lipoprotein receptor", "lipoprotein receptor related", "receptor related protein", "related protein 1", "prolow density lipoprotein receptor", "density lipoprotein receptor related", "lipoprotein receptor related protein", "receptor related protein 1", "prolow density lipoprotein receptor related", "density lipoprotein receptor related protein", "lipoprotein receptor related protein 1", "a2mr", "apoer", "alpha", "macroglobulin", "alpha 2", "2 macroglobulin", "macroglobulin receptor", "alpha 2 macroglobulin", "2 macroglobulin receptor", "alpha 2 macroglobulin receptor", "apolipoprotein", "apolipoprotein e", "e receptor", "apolipoprotein e receptor", "lrp", "lrp 1", "tbetar", "v/lrp", "1/igfbp", "tbetar v/lrp", "v/lrp 1/igfbp", "1/igfbp 3", "3 receptor", "tbetar v/lrp 1/igfbp", "v/lrp 1/igfbp 3", "1/igfbp 3 receptor", "tbetar v/lrp 1/igfbp 3", "v/lrp 1/igfbp 3 receptor", "tbetar v/lrp 1/igfbp 3 receptor", "low", "low density", "low density lipoprotein", "low density lipoprotein receptor", "low density lipoprotein receptor related", "preproprotein", "1 preproprotein", "protein 1 preproprotein", "related protein 1 preproprotein", "receptor related protein 1 preproprotein", "type", "tgf", "beta", "type v", "v tgf", "tgf beta", "beta receptor", "type v tgf", "v tgf beta", "tgf beta receptor", "type v tgf beta", "v tgf beta receptor", "type v tgf beta receptor" ] }, { "record_id": "MONDO:0958071", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958071", "0958071", "mim:616863", "616863" ] }, { "record_id": "MONDO:0958071", "record_type": "disease", "section": "disease_name", "phraselist": [ "hao", "fountain", "syndrome", "due", "to", "usp7", "mutation", "hao fountain", "fountain syndrome", "syndrome due", "due to", "to usp7", "usp7 mutation", "hao fountain syndrome", "fountain syndrome due", "syndrome due to", "due to usp7", "to usp7 mutation", "hao fountain syndrome due", "fountain syndrome due to", "syndrome due to usp7", "due to usp7 mutation", "hao fountain syndrome due to", "fountain syndrome due to usp7", "syndrome due to usp7 mutation", "related", "neurodevelopmental", "disorder", "usp7 related", "related neurodevelopmental", "neurodevelopmental disorder", "usp7 related neurodevelopmental", "related neurodevelopmental disorder", "usp7 related neurodevelopmental disorder" ] }, { "record_id": "MONDO:0958071", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958071", "record_type": "disease", "section": "proteins", "phraselist": [ "q93009", "q93009 1", "ubp7_human", "np_001308787", "glycoprotein", "usp7", "c16delp13.2", "del16p13.2", "hafous", "hausp", "tef1" ] }, { "record_id": "MONDO:0958071", "record_type": "disease", "section": "proteins", "phraselist": [ "ubiquitin", "terminal", "hydrolase", "ubiquitin c", "c terminal", "terminal hydrolase", "hydrolase 7", "ubiquitin c terminal", "c terminal hydrolase", "terminal hydrolase 7", "ubiquitin c terminal hydrolase", "c terminal hydrolase 7", "ubiquitin c terminal hydrolase 7", "3.4.19.12", "chromosome", "16p13.2", "deletion", "syndrome", "chromosome 16p13.2", "16p13.2 deletion", "deletion syndrome", "chromosome 16p13.2 deletion", "16p13.2 deletion syndrome", "chromosome 16p13.2 deletion syndrome", "deubiquitinating", "enzyme", "deubiquitinating enzyme", "enzyme 7", "deubiquitinating enzyme 7", "herpes", "virus", "associated", "specific", "protease", "herpes virus", "virus associated", "associated ubiquitin", "ubiquitin specific", "specific protease", "herpes virus associated", "virus associated ubiquitin", "associated ubiquitin specific", "ubiquitin specific protease", "herpes virus associated ubiquitin", "virus associated ubiquitin specific", "associated ubiquitin specific protease", "herpes virus associated ubiquitin specific", "virus associated ubiquitin specific protease", "herpesvirus", "herpesvirus associated", "herpesvirus associated ubiquitin", "herpesvirus associated ubiquitin specific", "herpesvirus associated ubiquitin specific protease", "thioesterase", "ubiquitin thioesterase", "thioesterase 7", "ubiquitin thioesterase 7", "processing", "specific processing", "processing protease", "protease 7", "ubiquitin specific processing", "specific processing protease", "processing protease 7", "ubiquitin specific processing protease", "specific processing protease 7", "ubiquitin specific processing protease 7", "carboxyl", "isoform", "ubiquitin carboxyl", "carboxyl terminal", "7 isoform", "isoform 4", "ubiquitin carboxyl terminal", "carboxyl terminal hydrolase", "hydrolase 7 isoform", "7 isoform 4", "ubiquitin carboxyl terminal hydrolase", "carboxyl terminal hydrolase 7", "terminal hydrolase 7 isoform", "hydrolase 7 isoform 4", "ubiquitin carboxyl terminal hydrolase 7", "carboxyl terminal hydrolase 7 isoform", "terminal hydrolase 7 isoform 4", "peptidase", "specific peptidase", "peptidase 7", "ubiquitin specific peptidase", "specific peptidase 7", "7 herpes", "ubiquitin specific peptidase 7", "peptidase 7 herpes", "7 herpes virus", "specific peptidase 7 herpes", "peptidase 7 herpes virus", "7 herpes virus associated", "specific protease 7", "ubiquitin specific protease 7", "protease 7 herpes", "specific protease 7 herpes", "protease 7 herpes virus" ] }, { "record_id": "MONDO:0958178", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958178", "0958178", "mim:301108", "301108" ] }, { "record_id": "MONDO:0958178", "record_type": "disease", "section": "disease_name", "phraselist": [ "cataracts", "hearing", "impairment", "nephrotic", "syndrome", "and", "enterocolitis", "hearing impairment", "nephrotic syndrome", "and enterocolitis", "enterocolitis 1", "cataracts hearing", "impairment nephrotic", "syndrome and", "and enterocolitis 1", "cataracts hearing impairment", "hearing impairment nephrotic", "impairment nephrotic syndrome", "nephrotic syndrome and", "syndrome and enterocolitis", "hearing impairment nephrotic syndrome", "nephrotic syndrome and enterocolitis", "syndrome and enterocolitis 1" ] }, { "record_id": "MONDO:0958178", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958178", "record_type": "disease", "section": "proteins", "phraselist": [ "o60832", "o60832 1", "dkc1_human", "np_001135935", "glycoprotein", "dkc1", "cbf5", "chine1", "dkcx", "dkc", "nap57", "nola4", "xap101" ] }, { "record_id": "MONDO:0958178", "record_type": "disease", "section": "proteins", "phraselist": [ "h/aca", "ribonucleoprotein", "complex", "subunit", "dkc1", "h/aca ribonucleoprotein", "ribonucleoprotein complex", "complex subunit", "subunit dkc1", "h/aca ribonucleoprotein complex", "ribonucleoprotein complex subunit", "complex subunit dkc1", "h/aca ribonucleoprotein complex subunit", "ribonucleoprotein complex subunit dkc1", "h/aca ribonucleoprotein complex subunit dkc1", "5.4.99.", "cbf5", "homolog", "cbf5 homolog", "dyskerin", "subunit 4", "complex subunit 4", "ribonucleoprotein complex subunit 4", "h/aca ribonucleoprotein complex subunit 4", "isoform", "dkc1 isoform", "isoform 2", "subunit dkc1 isoform", "dkc1 isoform 2", "complex subunit dkc1 isoform", "subunit dkc1 isoform 2", "ribonucleoprotein complex subunit dkc1 isoform", "complex subunit dkc1 isoform 2", "nopp140", "associated", "protein", "of", "57", "kda", "nopp140 associated", "associated protein", "protein of", "of 57", "57 kda", "nopp140 associated protein", "associated protein of", "protein of 57", "of 57 kda", "nopp140 associated protein of", "associated protein of 57", "protein of 57 kda", "nopp140 associated protein of 57", "associated protein of 57 kda", "nucleolar", "nap57", "nucleolar protein", "protein nap57", "nucleolar protein nap57", "family", "member", "protein family", "family a", "a member", "member 4", "nucleolar protein family", "protein family a", "family a member", "a member 4", "nucleolar protein family a", "protein family a member", "family a member 4", "nucleolar protein family a member", "protein family a member 4", "dyskeratosis", "congenita", "dyskeratosis congenita", "congenita 1", "dyskeratosis congenita 1", "1 dyskerin", "congenita 1 dyskerin", "dyskeratosis congenita 1 dyskerin", "snornp", "snornp protein", "protein dkc1", "snornp protein dkc1" ] }, { "record_id": "MONDO:0958182", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958182", "0958182", "mim:613652", "613652" ] }, { "record_id": "MONDO:0958182", "record_type": "disease", "section": "disease_name", "phraselist": [ "c1q", "deficiency", "c1q deficiency", "deficiency 1", "c1q deficiency 1" ] }, { "record_id": "MONDO:0958182", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958182", "record_type": "disease", "section": "proteins", "phraselist": [ "p02745", "p02745 1", "c1qa_human", "np_001334395", "glycoprotein", "c1qa", "c1qd1" ] }, { "record_id": "MONDO:0958182", "record_type": "disease", "section": "proteins", "phraselist": [ "complement", "c1q", "subcomponent", "subunit", "complement c1q", "c1q subcomponent", "subcomponent subunit", "subunit a", "complement c1q subcomponent", "c1q subcomponent subunit", "subcomponent subunit a", "complement c1q subcomponent subunit", "c1q subcomponent subunit a", "complement c1q subcomponent subunit a", "chain", "c1q chain", "chain a", "complement c1q chain", "c1q chain a", "complement c1q chain a", "precursor", "a precursor", "subunit a precursor", "subcomponent subunit a precursor", "c1q subcomponent subunit a precursor", "component", "complement component", "component 1", "q subcomponent", "a chain", "complement component 1", "1 q", "subcomponent a", "component 1 q", "1 q subcomponent", "q subcomponent a", "subcomponent a chain", "complement component 1 q", "component 1 q subcomponent", "q subcomponent a chain", "alpha", "polypeptide", "alpha polypeptide", "subcomponent alpha", "q subcomponent alpha", "subcomponent alpha polypeptide", "q subcomponent alpha polypeptide", "component c1q", "complement component c1q", "c1q a", "component c1q a", "c1q a chain", "complement component c1q a", "component c1q a chain" ] }, { "record_id": "MONDO:0958183", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958183", "0958183", "mim:619382", "619382" ] }, { "record_id": "MONDO:0958183", "record_type": "disease", "section": "disease_name", "phraselist": [ "leber", "like", "hereditary", "optic", "neuropathy", "autosomal", "recessive", "leber like", "like hereditary", "hereditary optic", "optic neuropathy", "autosomal recessive", "recessive 1", "leber like hereditary", "like hereditary optic", "hereditary optic neuropathy", "neuropathy autosomal", "autosomal recessive 1", "leber like hereditary optic", "like hereditary optic neuropathy", "optic neuropathy autosomal", "neuropathy autosomal recessive", "leber like hereditary optic neuropathy", "hereditary optic neuropathy autosomal", "optic neuropathy autosomal recessive", "neuropathy autosomal recessive 1" ] }, { "record_id": "MONDO:0958183", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958183", "record_type": "disease", "section": "proteins", "phraselist": [ "q96ll9", "q96ll9 1", "djc30_human", "np_115693", "dnajc30", "lhonar1", "lhonar", "mc1dn38", "wbscr18" ] }, { "record_id": "MONDO:0958183", "record_type": "disease", "section": "proteins", "phraselist": [ "dnaj", "homolog", "subfamily", "member", "30", "mitochondrial", "dnaj homolog", "homolog subfamily", "subfamily c", "c member", "member 30", "dnaj homolog subfamily", "homolog subfamily c", "subfamily c member", "c member 30", "30 mitochondrial", "dnaj homolog subfamily c", "homolog subfamily c member", "subfamily c member 30", "member 30 mitochondrial", "dnaj homolog subfamily c member", "homolog subfamily c member 30", "c member 30 mitochondrial", "hsp40", "dnaj hsp40", "hsp40 homolog", "dnaj hsp40 homolog", "hsp40 homolog subfamily", "williams", "beuren", "syndrome", "chromosome", "region", "18", "williams beuren", "beuren syndrome", "syndrome chromosome", "chromosome region", "region 18", "williams beuren syndrome", "beuren syndrome chromosome", "syndrome chromosome region", "chromosome region 18", "williams beuren syndrome chromosome", "beuren syndrome chromosome region", "syndrome chromosome region 18", "williams beuren syndrome chromosome region", "beuren syndrome chromosome region 18", "chromosomal", "protein", "syndrome chromosomal", "chromosomal region", "18 protein", "beuren syndrome chromosomal", "syndrome chromosomal region", "chromosomal region 18", "region 18 protein", "williams beuren syndrome chromosomal", "beuren syndrome chromosomal region", "syndrome chromosomal region 18", "chromosomal region 18 protein", "williams beuren syndrome chromosomal region", "beuren syndrome chromosomal region 18", "syndrome chromosomal region 18 protein", "precursor", "mitochondrial precursor", "30 mitochondrial precursor", "member 30 mitochondrial precursor" ] }, { "record_id": "MONDO:0958186", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958186", "0958186", "mim:620320", "620320" ] }, { "record_id": "MONDO:0958186", "record_type": "disease", "section": "disease_name", "phraselist": [ "hematuria", "benign", "familial", "benign familial", "hematuria benign", "familial 2", "hematuria benign familial", "benign familial 2" ] }, { "record_id": "MONDO:0958186", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958186", "record_type": "disease", "section": "proteins", "phraselist": [ "q01955", "q01955 1", "co4a3_human", "np_000082", "glycoprotein", "col4a3", "ats2", "ats3a", "ats3b", "ats3", "bfh2" ] }, { "record_id": "MONDO:0958186", "record_type": "disease", "section": "proteins", "phraselist": [ "collagen", "alpha", "iv", "chain", "collagen alpha", "alpha 3", "3 iv", "collagen alpha 3", "alpha 3 iv", "iv chain", "collagen alpha 3 iv", "3 iv chain", "alpha 3 iv chain", "goodpasture", "antigen", "goodpasture antigen", "polypeptide", "collagen iv", "3 polypeptide", "iv alpha", "alpha 3 polypeptide", "collagen iv alpha", "iv alpha 3", "collagen iv alpha 3", "iv alpha 3 polypeptide", "precursor", "chain precursor", "iv chain precursor", "3 iv chain precursor", "type", "type iv", "collagen type", "3 goodpasture", "collagen type iv", "type iv alpha", "alpha 3 goodpasture", "3 goodpasture antigen", "type iv alpha 3", "alpha 3 goodpasture antigen", "tumstatin" ] }, { "record_id": "MONDO:0958187", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958187", "0958187", "mim:620321", "620321" ] }, { "record_id": "MONDO:0958187", "record_type": "disease", "section": "disease_name", "phraselist": [ "c1q", "deficiency", "c1q deficiency", "deficiency 2", "c1q deficiency 2" ] }, { "record_id": "MONDO:0958187", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958187", "record_type": "disease", "section": "proteins", "phraselist": [ "p02746", "p02746 1", "c1qb_human", "np_000482", "glycoprotein", "c1qb", "c1qd2" ] }, { "record_id": "MONDO:0958187", "record_type": "disease", "section": "proteins", "phraselist": [ "complement", "c1q", "subcomponent", "subunit", "complement c1q", "c1q subcomponent", "subcomponent subunit", "subunit b", "complement c1q subcomponent", "c1q subcomponent subunit", "subcomponent subunit b", "complement c1q subcomponent subunit", "c1q subcomponent subunit b", "complement c1q subcomponent subunit b", "chain", "c1q chain", "chain b", "complement c1q chain", "c1q chain b", "complement c1q chain b", "isoform", "precursor", "b isoform", "isoform 1", "1 precursor", "subunit b isoform", "b isoform 1", "isoform 1 precursor", "subcomponent subunit b isoform", "subunit b isoform 1", "b isoform 1 precursor", "c1q subcomponent subunit b isoform", "subcomponent subunit b isoform 1", "subunit b isoform 1 precursor", "component", "complement component", "component 1", "q subcomponent", "b chain", "complement component 1", "1 q", "subcomponent b", "component 1 q", "1 q subcomponent", "q subcomponent b", "subcomponent b chain", "complement component 1 q", "component 1 q subcomponent", "q subcomponent b chain", "beta", "polypeptide", "beta polypeptide", "subcomponent beta", "q subcomponent beta", "subcomponent beta polypeptide", "q subcomponent beta polypeptide", "component c1q", "complement component c1q", "c1q b", "component c1q b", "c1q b chain", "complement component c1q b", "component c1q b chain", "complement subcomponent", "subcomponent c1q", "complement subcomponent c1q", "subcomponent c1q chain", "complement subcomponent c1q chain", "subcomponent c1q chain b", "complement subcomponent c1q chain b" ] }, { "record_id": "MONDO:0958188", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958188", "0958188", "mim:620322", "620322" ] }, { "record_id": "MONDO:0958188", "record_type": "disease", "section": "disease_name", "phraselist": [ "c1q", "deficiency", "c1q deficiency", "deficiency 3", "c1q deficiency 3" ] }, { "record_id": "MONDO:0958188", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958188", "record_type": "disease", "section": "proteins", "phraselist": [ "p02747", "p02747 1", "c1qc_human", "np_001107573", "glycoprotein", "c1qc", "c1q", "c1q c", "c1qd3", "c1qg" ] }, { "record_id": "MONDO:0958188", "record_type": "disease", "section": "proteins", "phraselist": [ "complement", "c1q", "subcomponent", "subunit", "complement c1q", "c1q subcomponent", "subcomponent subunit", "subunit c", "complement c1q subcomponent", "c1q subcomponent subunit", "subcomponent subunit c", "complement c1q subcomponent subunit", "c1q subcomponent subunit c", "complement c1q subcomponent subunit c", "isoform", "precursor", "c isoform", "isoform 1", "1 precursor", "subunit c isoform", "c isoform 1", "isoform 1 precursor", "subcomponent subunit c isoform", "subunit c isoform 1", "c isoform 1 precursor", "c1q subcomponent subunit c isoform", "subcomponent subunit c isoform 1", "subunit c isoform 1 precursor", "component", "chain", "complement component", "component 1", "q subcomponent", "c chain", "complement component 1", "1 q", "subcomponent c", "component 1 q", "1 q subcomponent", "q subcomponent c", "subcomponent c chain", "complement component 1 q", "component 1 q subcomponent", "q subcomponent c chain", "gamma", "polypeptide", "gamma polypeptide", "subcomponent gamma", "q subcomponent gamma", "subcomponent gamma polypeptide", "q subcomponent gamma polypeptide" ] }, { "record_id": "MONDO:0958191", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958191", "0958191", "mim:620374", "620374" ] }, { "record_id": "MONDO:0958191", "record_type": "disease", "section": "disease_name", "phraselist": [ "nephrolithiasis", "calcium", "oxalate", "with", "or", "without", "nephrocalcinosis", "calcium oxalate", "with or", "or without", "without nephrocalcinosis", "nephrolithiasis calcium", "oxalate 2", "2 with", "with or without", "or without nephrocalcinosis", "nephrolithiasis calcium oxalate", "calcium oxalate 2", "2 with or", "with or without nephrocalcinosis", "oxalate 2 with", "2 with or without", "with nephrocalcinosis", "2 with nephrocalcinosis" ] }, { "record_id": "MONDO:0958191", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958191", "record_type": "disease", "section": "proteins", "phraselist": [ "q96p68", "q96p68 1", "oxgr1_human", "np_001333123", "glycoprotein", "oxgr1", "caon2", "gpr80", "gpr99", "p2ry15", "p2y15", "akgr" ] }, { "record_id": "MONDO:0958191", "record_type": "disease", "section": "proteins", "phraselist": [ "oxoglutarate", "receptor", "2 oxoglutarate", "oxoglutarate receptor", "receptor 1", "2 oxoglutarate receptor", "oxoglutarate receptor 1", "2 oxoglutarate receptor 1", "alpha", "ketoglutarate", "alpha ketoglutarate", "ketoglutarate receptor", "alpha ketoglutarate receptor", "ketoglutarate receptor 1", "alpha ketoglutarate receptor 1", "protein", "coupled", "80", "g protein", "protein coupled", "coupled receptor", "receptor 80", "g protein coupled", "protein coupled receptor", "coupled receptor 80", "g protein coupled receptor", "protein coupled receptor 80", "g protein coupled receptor 80", "99", "receptor 99", "coupled receptor 99", "protein coupled receptor 99", "g protein coupled receptor 99", "p2y", "purinoceptor", "15", "p2y purinoceptor", "purinoceptor 15", "p2y purinoceptor 15", "like", "gpcr", "p2y like", "like gpcr", "p2y like gpcr", "nucleotide", "like nucleotide", "nucleotide receptor", "p2y like nucleotide", "like nucleotide receptor", "p2y like nucleotide receptor", "p2y15", "oxoglutarate alpha", "oxoglutarate alpha ketoglutarate", "seven", "transmembrane", "helix", "seven transmembrane", "transmembrane helix", "helix receptor", "seven transmembrane helix", "transmembrane helix receptor", "seven transmembrane helix receptor" ] }, { "record_id": "MONDO:0958193", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958193", "0958193", "mim:620425", "620425" ] }, { "record_id": "MONDO:0958193", "record_type": "disease", "section": "disease_name", "phraselist": [ "cataracts", "hearing", "impairment", "nephrotic", "syndrome", "and", "enterocolitis", "hearing impairment", "nephrotic syndrome", "and enterocolitis", "enterocolitis 2", "cataracts hearing", "impairment nephrotic", "syndrome and", "and enterocolitis 2", "cataracts hearing impairment", "hearing impairment nephrotic", "impairment nephrotic syndrome", "nephrotic syndrome and", "syndrome and enterocolitis", "hearing impairment nephrotic syndrome", "nephrotic syndrome and enterocolitis", "syndrome and enterocolitis 2" ] }, { "record_id": "MONDO:0958193", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958193", "record_type": "disease", "section": "proteins", "phraselist": [ "q9npe3", "q9npe3 1", "nop10_human", "np_061118", "glycoprotein", "nop10", "chine2", "dkcb1", "nola3", "nop10p", "pfbmft9" ] }, { "record_id": "MONDO:0958193", "record_type": "disease", "section": "proteins", "phraselist": [ "h/aca", "ribonucleoprotein", "complex", "subunit", "h/aca ribonucleoprotein", "ribonucleoprotein complex", "complex subunit", "subunit 3", "h/aca ribonucleoprotein complex", "ribonucleoprotein complex subunit", "complex subunit 3", "h/aca ribonucleoprotein complex subunit", "ribonucleoprotein complex subunit 3", "h/aca ribonucleoprotein complex subunit 3", "nop10", "homolog", "nop10 ribonucleoprotein", "ribonucleoprotein homolog", "nop10 ribonucleoprotein homolog", "nucleolar", "protein", "10", "nucleolar protein", "protein 10", "nucleolar protein 10", "family", "member", "protein family", "family a", "a member", "member 3", "nucleolar protein family", "protein family a", "family a member", "a member 3", "nucleolar protein family a", "protein family a member", "family a member 3", "nucleolar protein family a member", "protein family a member 3", "of", "yeast", "nop10p", "homolog of", "of yeast", "yeast nop10p", "homolog of yeast", "of yeast nop10p", "homolog of yeast nop10p", "small", "rnps", "h/aca small", "small nucleolar", "nucleolar rnps", "3 h/aca", "h/aca small nucleolar", "small nucleolar rnps", "member 3 h/aca", "3 h/aca small", "h/aca small nucleolar rnps", "member 3 h/aca small", "3 h/aca small nucleolar", "snornp", "snornp protein", "protein nop10", "snornp protein nop10" ] }, { "record_id": "MONDO:0958194", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958194", "0958194", "mim:620444", "620444" ] }, { "record_id": "MONDO:0958194", "record_type": "disease", "section": "disease_name", "phraselist": [ "craniofacial", "microsomia", "craniofacial microsomia", "microsomia 2", "craniofacial microsomia 2" ] }, { "record_id": "MONDO:0958194", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958194", "record_type": "disease", "section": "proteins", "phraselist": [ "a8mtj6", "a8mtj6 1", "foxi3_human", "np_001129121", "foxi3", "cfm2" ] }, { "record_id": "MONDO:0958194", "record_type": "disease", "section": "proteins", "phraselist": [ "forkhead", "box", "protein", "i3", "forkhead box", "box protein", "protein i3", "forkhead box protein", "box protein i3", "forkhead box protein i3" ] }, { "record_id": "MONDO:0958195", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958195", "0958195", "mim:620460", "620460" ] }, { "record_id": "MONDO:0958195", "record_type": "disease", "section": "disease_name", "phraselist": [ "oculopharyngeal", "muscular", "dystrophy", "oculopharyngeal muscular", "muscular dystrophy", "dystrophy 2", "oculopharyngeal muscular dystrophy", "muscular dystrophy 2", "oculopharyngeal muscular dystrophy 2" ] }, { "record_id": "MONDO:0958195", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958195", "record_type": "disease", "section": "proteins", "phraselist": [ "p22626", "p22626 1", "roa2_human", "np_002128", "glycoprotein", "hnrnpa2b1", "hnrnpa2", "hnrnpb1", "hnrpa2b1", "hnrpa2", "hnrpb1", "ibmpfd2", "opdm2", "opmd2", "rnpa2", "snrpb1" ] }, { "record_id": "MONDO:0958195", "record_type": "disease", "section": "proteins", "phraselist": [ "heterogeneous", "nuclear", "ribonucleoproteins", "a2/b1", "heterogeneous nuclear", "nuclear ribonucleoproteins", "ribonucleoproteins a2/b1", "heterogeneous nuclear ribonucleoproteins", "nuclear ribonucleoproteins a2/b1", "heterogeneous nuclear ribonucleoproteins a2/b1", "hnrnpa2b1/myc", "fusion", "hnrnpa2b1/myc fusion", "epididymis", "secretory", "sperm", "binding", "protein", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "isoform", "a2", "a2/b1 isoform", "isoform a2", "ribonucleoproteins a2/b1 isoform", "a2/b1 isoform a2", "nuclear ribonucleoproteins a2/b1 isoform", "ribonucleoproteins a2/b1 isoform a2", "heterogeneous nuclear ribonucleoproteins a2/b1 isoform", "nuclear ribonucleoproteins a2/b1 isoform a2", "hnrnp", "b1", "hnrnp a2", "a2 /", "/ hnrnp", "hnrnp b1", "hnrnp a2 /", "a2 / hnrnp", "/ hnrnp b1", "hnrnp a2 / hnrnp", "a2 / hnrnp b1", "hnrnp a2 / hnrnp b1", "hnrnp a2/b1", "ribonucleoprotein", "particle", "nuclear ribonucleoprotein", "ribonucleoprotein particle", "particle a2", "a2 protein", "nuclear ribonucleoprotein particle", "ribonucleoprotein particle a2", "particle a2 protein", "nuclear ribonucleoprotein particle a2", "ribonucleoprotein particle a2 protein", "nuclear ribonucleoprotein particle a2 protein" ] }, { "record_id": "MONDO:0958197", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958197", "0958197", "mim:620569", "620569" ] }, { "record_id": "MONDO:0958197", "record_type": "disease", "section": "disease_name", "phraselist": [ "leber", "like", "hereditary", "optic", "neuropathy", "autosomal", "recessive", "leber like", "like hereditary", "hereditary optic", "optic neuropathy", "autosomal recessive", "recessive 2", "leber like hereditary", "like hereditary optic", "hereditary optic neuropathy", "neuropathy autosomal", "autosomal recessive 2", "leber like hereditary optic", "like hereditary optic neuropathy", "optic neuropathy autosomal", "neuropathy autosomal recessive", "leber like hereditary optic neuropathy", "hereditary optic neuropathy autosomal", "optic neuropathy autosomal recessive", "neuropathy autosomal recessive 2" ] }, { "record_id": "MONDO:0958197", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958197", "record_type": "disease", "section": "proteins", "phraselist": [ "o75306", "o75306 1", "ndus2_human", "np_001159631", "glycoprotein", "ndufs2", "ci", "49", "ci 49", "lhonar2", "mc1dn6" ] }, { "record_id": "MONDO:0958197", "record_type": "disease", "section": "proteins", "phraselist": [ "nadh", "dehydrogenase", "ubiquinone", "iron", "sulfur", "protein", "mitochondrial", "nadh dehydrogenase", "iron sulfur", "sulfur protein", "protein 2", "dehydrogenase ubiquinone", "ubiquinone iron", "iron sulfur protein", "sulfur protein 2", "2 mitochondrial", "nadh dehydrogenase ubiquinone", "ubiquinone iron sulfur", "iron sulfur protein 2", "protein 2 mitochondrial", "dehydrogenase ubiquinone iron", "ubiquinone iron sulfur protein", "sulfur protein 2 mitochondrial", "7.1.1.2", "ci", "49kd", "ci 49kd", "complex", "complex i", "i 49kd", "complex i 49kd", "fe", "49kda", "coenzyme", "reductase", "fe s", "s protein", "nadh coenzyme", "coenzyme q", "q reductase", "ubiquinone fe", "fe s protein", "s protein 2", "2 49kda", "49kda nadh", "nadh coenzyme q", "coenzyme q reductase", "ubiquinone fe s", "fe s protein 2", "protein 2 49kda", "49kda nadh coenzyme", "nadh coenzyme q reductase", "dehydrogenase ubiquinone fe", "ubiquinone fe s protein", "s protein 2 49kda", "2 49kda nadh", "49kda nadh coenzyme q", "isoform", "precursor", "mitochondrial isoform", "isoform 2", "2 precursor", "mitochondrial isoform 2", "isoform 2 precursor", "2 mitochondrial isoform", "mitochondrial isoform 2 precursor", "protein 2 mitochondrial isoform", "2 mitochondrial isoform 2", "oxidoreductase", "49", "kda", "subunit", "nadh ubiquinone", "ubiquinone oxidoreductase", "oxidoreductase 49", "49 kda", "kda subunit", "nadh ubiquinone oxidoreductase", "ubiquinone oxidoreductase 49", "oxidoreductase 49 kda", "49 kda subunit", "nadh ubiquinone oxidoreductase 49", "ubiquinone oxidoreductase 49 kda", "oxidoreductase 49 kda subunit", "nadh ubiquinone oxidoreductase 49 kda", "ubiquinone oxidoreductase 49 kda subunit", "ndufs2", "oxidoreductase ndufs2", "ndufs2 subunit", "ubiquinone oxidoreductase ndufs2", "oxidoreductase ndufs2 subunit", "nadh ubiquinone oxidoreductase ndufs2", "ubiquinone oxidoreductase ndufs2 subunit", "nadh ubiquinone oxidoreductase ndufs2 subunit", "respiratory", "chain", "kd", "complex 1", "mitochondrial respiratory", "respiratory chain", "49 kd", "kd subunit", "1 mitochondrial", "mitochondrial respiratory chain", "chain 49", "49 kd subunit", "complex 1 mitochondrial", "1 mitochondrial respiratory", "respiratory chain 49", "chain 49 kd", "complex 1 mitochondrial respiratory", "1 mitochondrial respiratory chain", "mitochondrial respiratory chain 49", "respiratory chain 49 kd", "chain 49 kd subunit", "i 49kda", "49kda subunit", "complex i 49kda", "i 49kda subunit", "complex i 49kda subunit" ] }, { "record_id": "MONDO:0958200", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958200", "0958200", "mim:301116", "301116" ] }, { "record_id": "MONDO:0958200", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "linked", "113", "intellectual developmental", "developmental disorder", "x linked", "linked 113", "intellectual developmental disorder", "disorder x", "x linked 113", "developmental disorder x", "disorder x linked", "intellectual developmental disorder x", "developmental disorder x linked", "disorder x linked 113" ] }, { "record_id": "MONDO:0958200", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958200", "record_type": "disease", "section": "proteins", "phraselist": [ "p33240", "p33240 1", "cstf2_human", "np_001293138", "glycoprotein", "cstf2", "cstf64", "cstf", "64", "cstf 64", "xlid113" ] }, { "record_id": "MONDO:0958200", "record_type": "disease", "section": "proteins", "phraselist": [ "cleavage", "stimulation", "factor", "subunit", "cleavage stimulation", "stimulation factor", "factor subunit", "subunit 2", "cleavage stimulation factor", "stimulation factor subunit", "factor subunit 2", "cleavage stimulation factor subunit", "stimulation factor subunit 2", "cleavage stimulation factor subunit 2", "cf", "64", "kda", "cf 1", "1 64", "64 kda", "kda subunit", "cf 1 64", "1 64 kda", "64 kda subunit", "cf 1 64 kda", "1 64 kda subunit", "cf 1 64 kda subunit", "cstf", "cstf 64", "cstf 64 kda", "cstf 64 kda subunit", "factor 64", "stimulation factor 64", "factor 64 kda", "cleavage stimulation factor 64", "stimulation factor 64 kda", "factor 64 kda subunit", "cleavage stimulation factor 64 kda", "stimulation factor 64 kda subunit", "isoform", "2 isoform", "isoform 3", "subunit 2 isoform", "2 isoform 3", "factor subunit 2 isoform", "subunit 2 isoform 3", "stimulation factor subunit 2 isoform", "factor subunit 2 isoform 3", "3'", "pre", "rna", "64kda", "3' pre", "pre rna", "factor 3'", "3' pre rna", "rna subunit", "2 64kda", "stimulation factor 3'", "factor 3' pre", "pre rna subunit", "rna subunit 2", "subunit 2 64kda", "cleavage stimulation factor 3'", "stimulation factor 3' pre", "factor 3' pre rna", "3' pre rna subunit", "pre rna subunit 2", "64kd", "2 64kd", "subunit 2 64kd" ] }, { "record_id": "MONDO:0958202", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958202", "0958202", "mim:620687", "620687" ] }, { "record_id": "MONDO:0958202", "record_type": "disease", "section": "disease_name", "phraselist": [ "moyamoya", "disease", "moyamoya disease", "disease 7", "moyamoya disease 7" ] }, { "record_id": "MONDO:0958202", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958202", "record_type": "disease", "section": "proteins", "phraselist": [ "q5xxa6", "q5xxa6 1", "ano1_human", "np_060513", "glycoprotein", "ano1", "dog1", "indms", "mymy7", "oraov2", "taos2", "tmem16a" ] }, { "record_id": "MONDO:0958202", "record_type": "disease", "section": "proteins", "phraselist": [ "anoctamin", "anoctamin 1", "ca2+", "activated", "cl", "channel", "ca2+ activated", "activated cl", "ca2+ activated cl", "cl channel", "activated cl channel", "ca2+ activated cl channel", "discovered", "on", "gastrointestinal", "stromal", "tumors", "protein", "discovered on", "on gastrointestinal", "gastrointestinal stromal", "stromal tumors", "tumors protein", "protein 1", "discovered on gastrointestinal", "on gastrointestinal stromal", "gastrointestinal stromal tumors", "stromal tumors protein", "tumors protein 1", "discovered on gastrointestinal stromal", "on gastrointestinal stromal tumors", "gastrointestinal stromal tumors protein", "stromal tumors protein 1", "discovered on gastrointestinal stromal tumors", "on gastrointestinal stromal tumors protein", "gastrointestinal stromal tumors protein 1", "oral", "cancer", "overexpressed", "oral cancer", "cancer overexpressed", "overexpressed protein", "protein 2", "oral cancer overexpressed", "cancer overexpressed protein", "overexpressed protein 2", "oral cancer overexpressed protein", "cancer overexpressed protein 2", "oral cancer overexpressed protein 2", "transmembrane", "16a", "transmembrane protein", "protein 16a", "transmembrane protein 16a", "tumor", "amplified", "and", "sequence", "tumor amplified", "amplified and", "and overexpressed", "overexpressed sequence", "sequence 2", "tumor amplified and", "amplified and overexpressed", "and overexpressed sequence", "overexpressed sequence 2", "tumor amplified and overexpressed", "amplified and overexpressed sequence", "and overexpressed sequence 2", "tumor amplified and overexpressed sequence", "amplified and overexpressed sequence 2", "calcium", "chloride", "calcium activated", "activated chloride", "chloride channel", "1 calcium", "calcium activated chloride", "activated chloride channel", "anoctamin 1 calcium", "1 calcium activated", "calcium activated chloride channel", "anoctamin 1 calcium activated", "1 calcium activated chloride", "isoform", "1 isoform", "isoform a", "anoctamin 1 isoform", "1 isoform a", "anoctamin 1 isoform a", "overexpressed 2", "cancer overexpressed 2", "oral cancer overexpressed 2", "eight", "membrane", "spanning", "domains", "eight membrane", "membrane spanning", "spanning domains", "16a eight", "eight membrane spanning", "membrane spanning domains", "protein 16a eight", "16a eight membrane", "eight membrane spanning domains", "transmembrane protein 16a eight", "protein 16a eight membrane", "16a eight membrane spanning" ] }, { "record_id": "MONDO:0958204", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958204", "0958204", "mim:620700", "620700" ] }, { "record_id": "MONDO:0958204", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "autosomal", "recessive", "81", "intellectual developmental", "developmental disorder", "autosomal recessive", "recessive 81", "intellectual developmental disorder", "disorder autosomal", "autosomal recessive 81", "developmental disorder autosomal", "disorder autosomal recessive", "intellectual developmental disorder autosomal", "developmental disorder autosomal recessive", "disorder autosomal recessive 81" ] }, { "record_id": "MONDO:0958204", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958204", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n3c0", "q8n3c0 1", "ascc3_human", "np_001271200", "glycoprotein", "ascc3", "asc1p200", "helic1", "mrt81", "rnah", "rqt2" ] }, { "record_id": "MONDO:0958204", "record_type": "disease", "section": "proteins", "phraselist": [ "activating", "signal", "cointegrator", "complex", "subunit", "activating signal", "signal cointegrator", "cointegrator 1", "1 complex", "complex subunit", "subunit 3", "activating signal cointegrator", "signal cointegrator 1", "cointegrator 1 complex", "1 complex subunit", "complex subunit 3", "activating signal cointegrator 1", "signal cointegrator 1 complex", "cointegrator 1 complex subunit", "1 complex subunit 3", "activating signal cointegrator 1 complex", "signal cointegrator 1 complex subunit", "cointegrator 1 complex subunit 3", "5.6.2.4", "asc", "p200", "asc 1", "subunit p200", "asc 1 complex", "complex subunit p200", "asc 1 complex subunit", "1 complex subunit p200", "asc 1 complex subunit p200", "asc1p200", "helicase", "atp", "binding", "atp binding", "binding 1", "helicase atp", "atp binding 1", "helicase atp binding", "helicase atp binding 1", "rna", "family", "rna helicase", "helicase family", "rna helicase family", "trip4", "trip4 complex", "trip4 complex subunit", "trip4 complex subunit p200", "isoform", "3 isoform", "isoform c", "subunit 3 isoform", "3 isoform c", "complex subunit 3 isoform", "subunit 3 isoform c", "1 complex subunit 3 isoform", "complex subunit 3 isoform c" ] }, { "record_id": "MONDO:0958205", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958205", "0958205", "mim:620703", "620703" ] }, { "record_id": "MONDO:0958205", "record_type": "disease", "section": "disease_name", "phraselist": [ "yuksel", "vogel", "bauer", "syndrome", "yuksel vogel", "vogel bauer", "bauer syndrome", "yuksel vogel bauer", "vogel bauer syndrome", "yuksel vogel bauer syndrome" ] }, { "record_id": "MONDO:0958205", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958205", "record_type": "disease", "section": "proteins", "phraselist": [ "q8tdm6", "q8tdm6 1", "dlg5_human", "np_004738", "glycoprotein", "dlg5", "kiaa0583", "lp", "dlg", "lp dlg", "p dlg5", "pdlg", "yuvob" ] }, { "record_id": "MONDO:0958205", "record_type": "disease", "section": "proteins", "phraselist": [ "disks", "large", "homolog", "disks large", "large homolog", "homolog 5", "disks large homolog", "large homolog 5", "disks large homolog 5", "discs", "protein", "dlg", "discs large", "large protein", "protein p", "p dlg", "discs large protein", "large protein p", "protein p dlg", "discs large protein p", "large protein p dlg", "discs large protein p dlg", "placenta", "and", "prostate", "placenta and", "and prostate", "prostate dlg", "placenta and prostate", "and prostate dlg", "placenta and prostate dlg", "lp", "protein lp", "lp dlg", "large protein lp", "protein lp dlg", "discs large protein lp", "large protein lp dlg", "discs large protein lp dlg", "discs large homolog", "discs large homolog 5", "type", "of", "large type", "type of", "of p", "large type of", "type of p", "of p dlg", "large type of p", "type of p dlg", "large type of p dlg" ] }, { "record_id": "MONDO:0958224", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958224", "0958224", "mim:620704", "620704" ] }, { "record_id": "MONDO:0958224", "record_type": "disease", "section": "disease_name", "phraselist": [ "encephalopathy", "porphyria", "related", "porphyria related", "encephalopathy porphyria", "encephalopathy porphyria related" ] }, { "record_id": "MONDO:0958224", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958224", "record_type": "disease", "section": "proteins", "phraselist": [ "p08397", "p08397 1", "hem3_human", "np_000181", "glycoprotein", "hmbs", "encep", "lencep", "pbg", "pbg d", "pbgd", "porc", "ups" ] }, { "record_id": "MONDO:0958224", "record_type": "disease", "section": "proteins", "phraselist": [ "porphobilinogen", "deaminase", "porphobilinogen deaminase", "2.5.1.61", "chester", "type", "chester type", "hmbs", "hydroxymethylbilane", "synthase", "hydroxymethylbilane synthase", "pbg", "pbg d", "pre", "uroporphyrinogen", "pre uroporphyrinogen", "uroporphyrinogen synthase", "pre uroporphyrinogen synthase", "isoform", "deaminase isoform", "isoform 1", "porphobilinogen deaminase isoform", "deaminase isoform 1", "porphobilinogen deaminase isoform 1", "porphyria", "acute", "porphyria acute", "uroporphyrinogen i", "i synthase", "uroporphyrinogen i synthase", "synthetase", "i synthetase", "uroporphyrinogen i synthetase" ] }, { "record_id": "MONDO:0958226", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958226", "0958226", "mim:620711", "620711" ] }, { "record_id": "MONDO:0958226", "record_type": "disease", "section": "disease_name", "phraselist": [ "leukoencephalopathy", "porphyria", "related", "porphyria related", "leukoencephalopathy porphyria", "leukoencephalopathy porphyria related" ] }, { "record_id": "MONDO:0958226", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958226", "record_type": "disease", "section": "proteins", "phraselist": [ "p08397", "p08397 1", "hem3_human", "np_000181", "glycoprotein", "hmbs", "encep", "lencep", "pbg", "pbg d", "pbgd", "porc", "ups" ] }, { "record_id": "MONDO:0958226", "record_type": "disease", "section": "proteins", "phraselist": [ "porphobilinogen", "deaminase", "porphobilinogen deaminase", "2.5.1.61", "chester", "type", "chester type", "hmbs", "hydroxymethylbilane", "synthase", "hydroxymethylbilane synthase", "pbg", "pbg d", "pre", "uroporphyrinogen", "pre uroporphyrinogen", "uroporphyrinogen synthase", "pre uroporphyrinogen synthase", "isoform", "deaminase isoform", "isoform 1", "porphobilinogen deaminase isoform", "deaminase isoform 1", "porphobilinogen deaminase isoform 1", "porphyria", "acute", "porphyria acute", "uroporphyrinogen i", "i synthase", "uroporphyrinogen i synthase", "synthetase", "i synthetase", "uroporphyrinogen i synthetase" ] }, { "record_id": "MONDO:0958227", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958227", "0958227", "mim:620712", "620712" ] }, { "record_id": "MONDO:0958227", "record_type": "disease", "section": "disease_name", "phraselist": [ "polydactyly", "macrocephaly", "syndrome", "polydactyly macrocephaly", "macrocephaly syndrome", "polydactyly macrocephaly syndrome" ] }, { "record_id": "MONDO:0958227", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958227", "record_type": "disease", "section": "proteins", "phraselist": [ "p61244", "p61244 1", "max_human", "np_001257997", "max", "bhlhd4", "pdmcs" ] }, { "record_id": "MONDO:0958227", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "max", "protein max", "class", "basic", "helix", "loop", "class d", "d basic", "basic helix", "helix loop", "loop helix", "helix protein", "protein 4", "class d basic", "d basic helix", "basic helix loop", "helix loop helix", "loop helix protein", "helix protein 4", "class d basic helix", "d basic helix loop", "basic helix loop helix", "helix loop helix protein", "loop helix protein 4", "class d basic helix loop", "d basic helix loop helix", "basic helix loop helix protein", "helix loop helix protein 4", "myc", "associated", "factor", "myc associated", "associated factor", "factor x", "myc associated factor", "associated factor x", "myc associated factor x", "bhlhd4", "isoform", "max isoform", "isoform g", "protein max isoform", "max isoform g", "protein max isoform g" ] }, { "record_id": "MONDO:0958229", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958229", "0958229", "mim:620715", "620715" ] }, { "record_id": "MONDO:0958229", "record_type": "disease", "section": "disease_name", "phraselist": [ "bleeding", "disorder", "vascular", "type", "bleeding disorder", "vascular type", "disorder vascular", "bleeding disorder vascular", "disorder vascular type", "bleeding disorder vascular type" ] }, { "record_id": "MONDO:0958229", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958229", "record_type": "disease", "section": "proteins", "phraselist": [ "q96lr9", "q96lr9 1", "apld1_human", "np_001123887", "glycoprotein", "apold1", "bdvas", "verge" ] }, { "record_id": "MONDO:0958229", "record_type": "disease", "section": "proteins", "phraselist": [ "apolipoprotein", "domain", "containing", "protein", "apolipoprotein l", "l domain", "domain containing", "containing protein", "protein 1", "apolipoprotein l domain", "l domain containing", "domain containing protein", "containing protein 1", "apolipoprotein l domain containing", "l domain containing protein", "domain containing protein 1", "apolipoprotein l domain containing protein", "l domain containing protein 1", "vascular", "early", "response", "gene", "vascular early", "early response", "response gene", "gene protein", "vascular early response", "early response gene", "response gene protein", "vascular early response gene", "early response gene protein", "vascular early response gene protein", "isoform", "1 isoform", "isoform 1", "protein 1 isoform", "1 isoform 1", "containing protein 1 isoform", "protein 1 isoform 1", "domain containing protein 1 isoform", "containing protein 1 isoform 1" ] }, { "record_id": "MONDO:0958231", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958231", "0958231", "mim:620719", "620719" ] }, { "record_id": "MONDO:0958231", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "motor", "abnormalities", "seizures", "and", "facial", "dysmorphism", "neurodevelopmental disorder", "disorder with", "with motor", "motor abnormalities", "and facial", "facial dysmorphism", "neurodevelopmental disorder with", "disorder with motor", "with motor abnormalities", "abnormalities seizures", "seizures and", "and facial dysmorphism", "neurodevelopmental disorder with motor", "disorder with motor abnormalities", "motor abnormalities seizures", "seizures and facial", "neurodevelopmental disorder with motor abnormalities", "with motor abnormalities seizures", "abnormalities seizures and", "seizures and facial dysmorphism", "pum1", "associated", "developmental", "disability", "ataxia", "seizure", "syndrome", "pum1 associated", "associated developmental", "developmental disability", "disability ataxia", "ataxia seizure", "seizure syndrome", "pum1 associated developmental", "associated developmental disability", "developmental disability ataxia", "disability ataxia seizure", "ataxia seizure syndrome", "pum1 associated developmental disability", "associated developmental disability ataxia", "developmental disability ataxia seizure", "disability ataxia seizure syndrome", "pum1 associated developmental disability ataxia", "associated developmental disability ataxia seizure", "developmental disability ataxia seizure syndrome" ] }, { "record_id": "MONDO:0958237", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958237", "0958237", "mim:620729", "620729" ] }, { "record_id": "MONDO:0958237", "record_type": "disease", "section": "disease_name", "phraselist": [ "isolated", "hyperferritinemia", "isolated hyperferritinemia" ] }, { "record_id": "MONDO:0958237", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958237", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ny15", "q9ny15 1", "stab1_human", "np_055951", "glycoprotein", "stab1", "clever", "clever 1", "feel", "feel 1", "feel1", "fele", "fele 1", "fex1", "hrft", "kiaa0246", "scarh2", "stab", "stab 1" ] }, { "record_id": "MONDO:0958237", "record_type": "disease", "section": "proteins", "phraselist": [ "stabilin", "stabilin 1", "feel", "feel 1", "fasciclin", "egf", "like", "laminin", "type", "and", "link", "domain", "containing", "scavenger", "receptor", "egf like", "laminin type", "type egf", "like and", "and link", "link domain", "domain containing", "containing scavenger", "scavenger receptor", "receptor 1", "fasciclin egf", "like laminin", "laminin type egf", "type egf like", "egf like and", "like and link", "and link domain", "link domain containing", "domain containing scavenger", "containing scavenger receptor", "scavenger receptor 1", "fasciclin egf like", "egf like laminin", "like laminin type", "laminin type egf like", "type egf like and", "egf like and link", "like and link domain", "and link domain containing", "link domain containing scavenger", "domain containing scavenger receptor", "containing scavenger receptor 1", "egf like laminin type", "like laminin type egf", "laminin type egf like and", "type egf like and link", "egf like and link domain", "like and link domain containing", "and link domain containing scavenger", "link domain containing scavenger receptor", "domain containing scavenger receptor 1", "ms", "antigen", "ms 1", "1 antigen", "ms 1 antigen", "common", "lymphatic", "endothelial", "vascular", "common lymphatic", "lymphatic endothelial", "endothelial and", "and vascular", "vascular endothelial", "endothelial receptor", "common lymphatic endothelial", "lymphatic endothelial and", "endothelial and vascular", "and vascular endothelial", "vascular endothelial receptor", "endothelial receptor 1", "common lymphatic endothelial and", "lymphatic endothelial and vascular", "endothelial and vascular endothelial", "and vascular endothelial receptor", "vascular endothelial receptor 1", "common lymphatic endothelial and vascular", "lymphatic endothelial and vascular endothelial", "endothelial and vascular endothelial receptor", "and vascular endothelial receptor 1", "fasciclin egf like laminin", "precursor", "1 precursor", "stabilin 1 precursor" ] }, { "record_id": "MONDO:0958238", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958238", "0958238", "mim:620730", "620730" ] }, { "record_id": "MONDO:0958238", "record_type": "disease", "section": "disease_name", "phraselist": [ "hyperemesis", "gravidarum", "susceptibility", "to", "hyperemesis gravidarum", "susceptibility to", "gravidarum susceptibility", "hyperemesis gravidarum susceptibility", "gravidarum susceptibility to", "hyperemesis gravidarum susceptibility to" ] }, { "record_id": "MONDO:0958238", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958238", "record_type": "disease", "section": "proteins", "phraselist": [ "q99988", "q99988 1", "gdf15_human", "np_004855", "glycoprotein", "gdf15", "gdf", "15", "gdf 15", "hg", "mic", "mic 1", "mic1", "nag", "nag 1", "pdf", "plab", "ptgfb" ] }, { "record_id": "MONDO:0958238", "record_type": "disease", "section": "proteins", "phraselist": [ "growth/differentiation", "factor", "15", "growth/differentiation factor", "factor 15", "growth/differentiation factor 15", "gdf", "gdf 15", "mic", "mic 1", "macrophage", "inhibitory", "cytokine", "macrophage inhibitory", "inhibitory cytokine", "cytokine 1", "macrophage inhibitory cytokine", "inhibitory cytokine 1", "macrophage inhibitory cytokine 1", "nag", "nag 1", "nrg", "nrg 1", "nsaid", "nonsteroidal", "anti", "inflammatory", "drug", "activated", "protein", "nonsteroidal anti", "anti inflammatory", "inflammatory drug", "activated protein", "protein 1", "nsaid nonsteroidal", "nonsteroidal anti inflammatory", "anti inflammatory drug", "drug activated", "activated protein 1", "nsaid nonsteroidal anti", "nonsteroidal anti inflammatory drug", "inflammatory drug activated", "drug activated protein", "nsaid nonsteroidal anti inflammatory", "anti inflammatory drug activated", "inflammatory drug activated protein", "drug activated protein 1", "gene", "nsaid activated", "activated gene", "gene 1", "1 protein", "nsaid activated gene", "activated gene 1", "gene 1 protein", "nsaid activated gene 1", "activated gene 1 protein", "nsaid activated gene 1 protein", "regulated", "nsaid regulated", "regulated gene", "nsaid regulated gene", "regulated gene 1", "nsaid regulated gene 1", "regulated gene 1 protein", "nsaid regulated gene 1 protein", "ptgf", "beta", "ptgf beta", "placental", "tgf", "placental tgf", "tgf beta", "placental tgf beta", "bone", "morphogenetic", "placental bone", "bone morphogenetic", "morphogenetic protein", "placental bone morphogenetic", "bone morphogenetic protein", "placental bone morphogenetic protein", "prostate", "differentiation", "prostate differentiation", "differentiation factor", "prostate differentiation factor", "preproprotein", "15 preproprotein", "factor 15 preproprotein", "growth/differentiation factor 15 preproprotein", "non", "steroidal", "non steroidal", "steroidal anti", "non steroidal anti", "steroidal anti inflammatory", "drug activated gene", "non steroidal anti inflammatory", "steroidal anti inflammatory drug", "inflammatory drug activated gene", "drug activated gene 1", "non steroidal anti inflammatory drug", "steroidal anti inflammatory drug activated", "anti inflammatory drug activated gene", "inflammatory drug activated gene 1" ] }, { "record_id": "MONDO:0958239", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958239", "0958239", "mim:620731", "620731" ] }, { "record_id": "MONDO:0958239", "record_type": "disease", "section": "disease_name", "phraselist": [ "microphthalmia/coloboma", "11", "microphthalmia/coloboma 11" ] }, { "record_id": "MONDO:0958239", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958239", "record_type": "disease", "section": "proteins", "phraselist": [ "q13467", "q13467 1", "fzd5_human", "np_003459", "glycoprotein", "fzd5", "c2orf31", "hfz5", "mcopcb11" ] }, { "record_id": "MONDO:0958239", "record_type": "disease", "section": "proteins", "phraselist": [ "frizzled", "frizzled 5", "fz", "fz 5", "fze5", "wnt", "receptor", "wnt receptor", "seven", "transmembrane", "spanning", "seven transmembrane", "transmembrane spanning", "spanning receptor", "5 seven", "seven transmembrane spanning", "transmembrane spanning receptor", "frizzled 5 seven", "5 seven transmembrane", "seven transmembrane spanning receptor", "frizzled 5 seven transmembrane", "5 seven transmembrane spanning", "family", "frizzled family", "family receptor", "receptor 5", "frizzled family receptor", "family receptor 5", "frizzled family receptor 5", "precursor", "5 precursor", "frizzled 5 precursor", "hfz5", "transmembrane receptor", "receptor frizzled", "seven transmembrane receptor", "transmembrane receptor frizzled", "receptor frizzled 5", "seven transmembrane receptor frizzled", "transmembrane receptor frizzled 5", "seven transmembrane receptor frizzled 5" ] }, { "record_id": "MONDO:0958240", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958240", "0958240", "mim:620732", "620732" ] }, { "record_id": "MONDO:0958240", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hyperkinetic", "movements", "seizures", "and", "structural", "brain", "abnormalities", "neurodevelopmental disorder", "disorder with", "with hyperkinetic", "hyperkinetic movements", "and structural", "structural brain", "brain abnormalities", "neurodevelopmental disorder with", "disorder with hyperkinetic", "with hyperkinetic movements", "movements seizures", "seizures and", "and structural brain", "structural brain abnormalities", "neurodevelopmental disorder with hyperkinetic", "disorder with hyperkinetic movements", "hyperkinetic movements seizures", "seizures and structural", "and structural brain abnormalities", "neurodevelopmental disorder with hyperkinetic movements", "with hyperkinetic movements seizures", "movements seizures and", "seizures and structural brain" ] }, { "record_id": "MONDO:0958240", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958240", "record_type": "disease", "section": "proteins", "phraselist": [ "q9btu6", "q9btu6 1", "p4k2a_human", "np_060895", "glycoprotein", "pi4k2a", "nedmsb", "pi4kii", "pik42a" ] }, { "record_id": "MONDO:0958240", "record_type": "disease", "section": "proteins", "phraselist": [ "phosphatidylinositol", "kinase", "type", "alpha", "phosphatidylinositol 4", "4 kinase", "kinase type", "type 2", "2 alpha", "phosphatidylinositol 4 kinase", "4 kinase type", "kinase type 2", "type 2 alpha", "phosphatidylinositol 4 kinase type", "4 kinase type 2", "kinase type 2 alpha", "phosphatidylinositol 4 kinase type 2", "4 kinase type 2 alpha", "2.7.1.67", "ii", "type ii", "ii alpha", "kinase type ii", "type ii alpha", "4 kinase type ii", "kinase type ii alpha", "phosphatidylinositol 4 kinase type ii", "4 kinase type ii alpha", "pi4kii", "ii pi4kii", "type ii pi4kii", "kinase type ii pi4kii" ] }, { "record_id": "MONDO:0958241", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958241", "0958241", "mim:620734", "620734" ] }, { "record_id": "MONDO:0958241", "record_type": "disease", "section": "disease_name", "phraselist": [ "cardiomyopathy", "familial", "hypertrophic", "30", "atrial", "familial hypertrophic", "cardiomyopathy familial", "hypertrophic 30", "30 atrial", "cardiomyopathy familial hypertrophic", "familial hypertrophic 30", "hypertrophic 30 atrial" ] }, { "record_id": "MONDO:0958241", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958241", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y5q5", "q9y5q5 1", "corin_human", "np_001265514", "glycoprotein", "corin", "atc2", "cmh30", "crn", "lrp4", "pee5", "tmprss10" ] }, { "record_id": "MONDO:0958241", "record_type": "disease", "section": "proteins", "phraselist": [ "atrial", "natriuretic", "peptide", "converting", "enzyme", "atrial natriuretic", "natriuretic peptide", "peptide converting", "converting enzyme", "atrial natriuretic peptide", "natriuretic peptide converting", "peptide converting enzyme", "atrial natriuretic peptide converting", "natriuretic peptide converting enzyme", "atrial natriuretic peptide converting enzyme", "3.4.21.", "corin", "heart", "specific", "serine", "proteinase", "atc2", "heart specific", "specific serine", "serine proteinase", "proteinase atc2", "heart specific serine", "specific serine proteinase", "serine proteinase atc2", "heart specific serine proteinase", "specific serine proteinase atc2", "heart specific serine proteinase atc2", "pro", "anp", "pro anp", "anp converting", "pro anp converting", "anp converting enzyme", "pro anp converting enzyme", "transmembrane", "protease", "10", "transmembrane protease", "protease serine", "serine 10", "transmembrane protease serine", "protease serine 10", "transmembrane protease serine 10", "isoform", "enzyme isoform", "isoform 2", "converting enzyme isoform", "enzyme isoform 2", "peptide converting enzyme isoform", "converting enzyme isoform 2", "natriuretic peptide converting enzyme isoform", "peptide converting enzyme isoform 2", "convertase", "anp convertase", "pro anp convertase" ] }, { "record_id": "MONDO:0958278", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958278", "0958278", "mim:620746", "620746" ] }, { "record_id": "MONDO:0958278", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hypotonia", "and", "characteristic", "brain", "abnormalities", "neurodevelopmental disorder", "disorder with", "with hypotonia", "hypotonia and", "and characteristic", "characteristic brain", "brain abnormalities", "neurodevelopmental disorder with", "disorder with hypotonia", "with hypotonia and", "hypotonia and characteristic", "and characteristic brain", "characteristic brain abnormalities", "neurodevelopmental disorder with hypotonia", "disorder with hypotonia and", "with hypotonia and characteristic", "hypotonia and characteristic brain", "and characteristic brain abnormalities", "neurodevelopmental disorder with hypotonia and", "disorder with hypotonia and characteristic", "with hypotonia and characteristic brain", "hypotonia and characteristic brain abnormalities" ] }, { "record_id": "MONDO:0958278", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958278", "record_type": "disease", "section": "proteins", "phraselist": [ "q6u841", "q6u841 1", "s4a10_human", "np_001171486", "glycoprotein", "slc4a10", "nbcn2", "ncbe" ] }, { "record_id": "MONDO:0958278", "record_type": "disease", "section": "proteins", "phraselist": [ "sodium", "driven", "chloride", "bicarbonate", "exchanger", "sodium driven", "driven chloride", "chloride bicarbonate", "bicarbonate exchanger", "sodium driven chloride", "driven chloride bicarbonate", "chloride bicarbonate exchanger", "sodium driven chloride bicarbonate", "driven chloride bicarbonate exchanger", "sodium driven chloride bicarbonate exchanger", "solute", "carrier", "family", "member", "10", "solute carrier", "carrier family", "family 4", "4 member", "member 10", "solute carrier family", "carrier family 4", "family 4 member", "4 member 10", "solute carrier family 4", "carrier family 4 member", "family 4 member 10", "solute carrier family 4 member", "carrier family 4 member 10", "isoform", "exchanger isoform", "isoform 1", "bicarbonate exchanger isoform", "exchanger isoform 1", "chloride bicarbonate exchanger isoform", "bicarbonate exchanger isoform 1", "driven chloride bicarbonate exchanger isoform", "chloride bicarbonate exchanger isoform 1", "cotransporter", "like", "sodium bicarbonate", "bicarbonate cotransporter", "cotransporter like", "4 sodium", "sodium bicarbonate cotransporter", "bicarbonate cotransporter like", "like member", "family 4 sodium", "4 sodium bicarbonate", "sodium bicarbonate cotransporter like", "cotransporter like member", "like member 10", "carrier family 4 sodium", "family 4 sodium bicarbonate", "4 sodium bicarbonate cotransporter", "bicarbonate cotransporter like member", "cotransporter like member 10", "transporter", "bicarbonate transporter", "sodium bicarbonate transporter", "transporter member", "bicarbonate transporter member", "transporter member 10", "4 sodium bicarbonate transporter", "sodium bicarbonate transporter member", "bicarbonate transporter member 10" ] }, { "record_id": "MONDO:0958279", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958279", "0958279", "mim:620748", "620748" ] }, { "record_id": "MONDO:0958279", "record_type": "disease", "section": "disease_name", "phraselist": [ "megalencephaly", "polydactyly", "syndrome", "megalencephaly polydactyly", "polydactyly syndrome", "megalencephaly polydactyly syndrome" ] }, { "record_id": "MONDO:0958279", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958279", "record_type": "disease", "section": "proteins", "phraselist": [ "p04198", "p04198 1", "mycn_human", "np_001280160", "glycoprotein", "mycn", "bhlhe37", "fglds1", "moded", "mpapa", "mycnsorf", "mycnspep", "myc", "n myc", "nmyc", "oded" ] }, { "record_id": "MONDO:0958279", "record_type": "disease", "section": "proteins", "phraselist": [ "myc", "proto", "oncogene", "protein", "n myc", "myc proto", "proto oncogene", "oncogene protein", "n myc proto", "myc proto oncogene", "proto oncogene protein", "n myc proto oncogene", "myc proto oncogene protein", "n myc proto oncogene protein", "class", "basic", "helix", "loop", "37", "class e", "e basic", "basic helix", "helix loop", "loop helix", "helix protein", "protein 37", "class e basic", "e basic helix", "basic helix loop", "helix loop helix", "loop helix protein", "helix protein 37", "class e basic helix", "e basic helix loop", "basic helix loop helix", "helix loop helix protein", "loop helix protein 37", "class e basic helix loop", "e basic helix loop helix", "basic helix loop helix protein", "helix loop helix protein 37", "isoform", "protein isoform", "isoform 2", "oncogene protein isoform", "protein isoform 2", "proto oncogene protein isoform", "oncogene protein isoform 2", "myc proto oncogene protein isoform", "proto oncogene protein isoform 2", "bhlhe37", "neuroblastoma", "neuroblastoma myc", "myc oncogene", "neuroblastoma myc oncogene", "derived", "avian", "myelocytomatosis", "viral", "related", "neuroblastoma derived", "derived v", "v myc", "myc avian", "avian myelocytomatosis", "myelocytomatosis viral", "viral related", "related oncogene", "neuroblastoma derived v", "derived v myc", "v myc avian", "myc avian myelocytomatosis", "avian myelocytomatosis viral", "myelocytomatosis viral related", "viral related oncogene", "neuroblastoma derived v myc", "derived v myc avian", "v myc avian myelocytomatosis", "myc avian myelocytomatosis viral", "avian myelocytomatosis viral related", "myelocytomatosis viral related oncogene", "neuroblastoma derived v myc avian", "derived v myc avian myelocytomatosis", "v myc avian myelocytomatosis viral", "myc avian myelocytomatosis viral related", "avian myelocytomatosis viral related oncogene", "nmyc", "oncogene nmyc", "homolog", "viral oncogene", "oncogene neuroblastoma", "derived homolog", "myelocytomatosis viral oncogene", "viral oncogene neuroblastoma", "oncogene neuroblastoma derived", "neuroblastoma derived homolog", "avian myelocytomatosis viral oncogene", "myelocytomatosis viral oncogene neuroblastoma", "viral oncogene neuroblastoma derived", "oncogene neuroblastoma derived homolog", "myc avian myelocytomatosis viral oncogene", "avian myelocytomatosis viral oncogene neuroblastoma", "myelocytomatosis viral oncogene neuroblastoma derived", "viral oncogene neuroblastoma derived homolog" ] }, { "record_id": "MONDO:0958322", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958322", "0958322", "mim:301118", "301118" ] }, { "record_id": "MONDO:0958322", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "linked", "syndromic", "37", "intellectual developmental", "developmental disorder", "x linked", "syndromic 37", "intellectual developmental disorder", "disorder x", "linked syndromic", "developmental disorder x", "disorder x linked", "x linked syndromic", "linked syndromic 37", "intellectual developmental disorder x", "developmental disorder x linked", "x linked syndromic 37" ] }, { "record_id": "MONDO:0958322", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958322", "record_type": "disease", "section": "proteins", "phraselist": [ "p17010", "p17010 1", "zfx_human", "np_001171555", "glycoprotein", "zfx", "mrxs37", "znf926" ] }, { "record_id": "MONDO:0958322", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "chromosomal", "protein", "zinc finger", "finger x", "x chromosomal", "chromosomal protein", "zinc finger x", "finger x chromosomal", "x chromosomal protein", "zinc finger x chromosomal", "finger x chromosomal protein", "zinc finger x chromosomal protein", "linked", "x linked", "linked zinc", "finger protein", "x linked zinc", "linked zinc finger", "zinc finger protein", "x linked zinc finger", "linked zinc finger protein", "x linked zinc finger protein", "isoform", "protein isoform", "isoform 1", "chromosomal protein isoform", "protein isoform 1", "x chromosomal protein isoform", "chromosomal protein isoform 1", "finger x chromosomal protein isoform", "x chromosomal protein isoform 1" ] }, { "record_id": "MONDO:0958323", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958323", "0958323", "mim:620747", "620747" ] }, { "record_id": "MONDO:0958323", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "early", "onset", "parkinsonism", "and", "behavioral", "abnormalities", "neurodevelopmental disorder", "disorder with", "with early", "early onset", "onset parkinsonism", "parkinsonism and", "and behavioral", "behavioral abnormalities", "neurodevelopmental disorder with", "disorder with early", "with early onset", "early onset parkinsonism", "onset parkinsonism and", "parkinsonism and behavioral", "and behavioral abnormalities", "neurodevelopmental disorder with early", "disorder with early onset", "with early onset parkinsonism", "early onset parkinsonism and", "onset parkinsonism and behavioral", "parkinsonism and behavioral abnormalities", "neurodevelopmental disorder with early onset", "disorder with early onset parkinsonism", "with early onset parkinsonism and", "early onset parkinsonism and behavioral", "onset parkinsonism and behavioral abnormalities" ] }, { "record_id": "MONDO:0958323", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958323", "record_type": "disease", "section": "proteins", "phraselist": [ "q6gmv3", "q6gmv3 1", "ptrd1_human", "np_001013685", "glycoprotein", "ptrhd1", "c2orf79", "nedpba" ] }, { "record_id": "MONDO:0958323", "record_type": "disease", "section": "proteins", "phraselist": [ "putative", "peptidyl", "trna", "hydrolase", "ptrhd1", "putative peptidyl", "peptidyl trna", "trna hydrolase", "hydrolase ptrhd1", "putative peptidyl trna", "peptidyl trna hydrolase", "trna hydrolase ptrhd1", "putative peptidyl trna hydrolase", "peptidyl trna hydrolase ptrhd1", "putative peptidyl trna hydrolase ptrhd1", "3.1.1.29", "domain", "containing", "protein", "hydrolase domain", "domain containing", "containing protein", "protein 1", "trna hydrolase domain", "hydrolase domain containing", "domain containing protein", "containing protein 1", "peptidyl trna hydrolase domain", "trna hydrolase domain containing", "hydrolase domain containing protein", "domain containing protein 1", "peptidyl trna hydrolase domain containing", "trna hydrolase domain containing protein", "hydrolase domain containing protein 1" ] }, { "record_id": "MONDO:0958324", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958324", "0958324", "mim:620755", "620755" ] }, { "record_id": "MONDO:0958324", "record_type": "disease", "section": "disease_name", "phraselist": [ "generalized", "epilepsy", "with", "febrile", "seizures", "plus", "type", "12", "generalized epilepsy", "epilepsy with", "with febrile", "febrile seizures", "seizures plus", "type 12", "generalized epilepsy with", "epilepsy with febrile", "with febrile seizures", "febrile seizures plus", "plus type", "generalized epilepsy with febrile", "epilepsy with febrile seizures", "with febrile seizures plus", "seizures plus type", "plus type 12", "generalized epilepsy with febrile seizures", "epilepsy with febrile seizures plus", "febrile seizures plus type", "seizures plus type 12", "plus 12", "seizures plus 12", "febrile seizures plus 12", "with febrile seizures plus 12" ] }, { "record_id": "MONDO:0958324", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958324", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h598", "q9h598 1", "viaat_human", "np_542119", "glycoprotein", "slc32a1", "dee114", "gefsp12", "vgat", "viaat", "viaat gefsp12" ] }, { "record_id": "MONDO:0958324", "record_type": "disease", "section": "proteins", "phraselist": [ "vesicular", "inhibitory", "amino", "acid", "transporter", "vesicular inhibitory", "inhibitory amino", "amino acid", "acid transporter", "vesicular inhibitory amino", "inhibitory amino acid", "amino acid transporter", "vesicular inhibitory amino acid", "inhibitory amino acid transporter", "vesicular inhibitory amino acid transporter", "gaba", "and", "glycine", "gaba and", "and glycine", "glycine transporter", "gaba and glycine", "and glycine transporter", "gaba and glycine transporter", "solute", "carrier", "family", "32", "member", "solute carrier", "carrier family", "family 32", "32 member", "member 1", "solute carrier family", "carrier family 32", "family 32 member", "32 member 1", "solute carrier family 32", "carrier family 32 member", "family 32 member 1", "solute carrier family 32 member", "carrier family 32 member 1", "vesicular gaba", "gaba transporter", "vesicular gaba transporter", "hviaat", "gaba vesicular", "vesicular transporter", "32 gaba", "gaba vesicular transporter", "family 32 gaba", "32 gaba vesicular", "transporter member", "carrier family 32 gaba", "family 32 gaba vesicular", "32 gaba vesicular transporter", "vesicular transporter member", "transporter member 1" ] }, { "record_id": "MONDO:0958325", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958325", "0958325", "mim:620757", "620757" ] }, { "record_id": "MONDO:0958325", "record_type": "disease", "section": "disease_name", "phraselist": [ "thrombocytopenia", "12", "with", "or", "without", "myopathy", "thrombocytopenia 12", "12 with", "with or", "or without", "without myopathy", "thrombocytopenia 12 with", "12 with or", "with or without", "or without myopathy", "thrombocytopenia 12 with or", "12 with or without", "with or without myopathy", "thrombocytopenia 12 with or without", "12 with or without myopathy" ] }, { "record_id": "MONDO:0958325", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958325", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y223", "q9y223 1", "glcne_human", "np_001121699", "gne", "dmrv", "glcne", "ibm2", "nm", "thc12", "uae1" ] }, { "record_id": "MONDO:0958325", "record_type": "disease", "section": "proteins", "phraselist": [ "bifunctional", "udp", "acetylglucosamine", "epimerase/n", "acetylmannosamine", "kinase", "bifunctional udp", "udp n", "n acetylglucosamine", "acetylglucosamine 2", "2 epimerase/n", "epimerase/n acetylmannosamine", "acetylmannosamine kinase", "bifunctional udp n", "udp n acetylglucosamine", "n acetylglucosamine 2", "acetylglucosamine 2 epimerase/n", "2 epimerase/n acetylmannosamine", "epimerase/n acetylmannosamine kinase", "bifunctional udp n acetylglucosamine", "udp n acetylglucosamine 2", "n acetylglucosamine 2 epimerase/n", "acetylglucosamine 2 epimerase/n acetylmannosamine", "2 epimerase/n acetylmannosamine kinase", "bifunctional udp n acetylglucosamine 2", "udp n acetylglucosamine 2 epimerase/n", "n acetylglucosamine 2 epimerase/n acetylmannosamine", "acetylglucosamine 2 epimerase/n acetylmannosamine kinase", "manac", "manac kinase", "acylmannosamine", "n acylmannosamine", "acylmannosamine kinase", "n acylmannosamine kinase", "glcnac", "epimerase/manac", "udp glcnac", "glcnac 2", "2 epimerase/manac", "epimerase/manac kinase", "udp glcnac 2", "glcnac 2 epimerase/manac", "2 epimerase/manac kinase", "udp glcnac 2 epimerase/manac", "glcnac 2 epimerase/manac kinase", "udp glcnac 2 epimerase/manac kinase", "epimerase", "2 epimerase", "glcnac 2 epimerase", "udp glcnac 2 epimerase", "uridine", "diphosphate", "uridine diphosphate", "diphosphate n", "uridine diphosphate n", "diphosphate n acetylglucosamine", "acetylglucosamine 2 epimerase", "uridine diphosphate n acetylglucosamine", "diphosphate n acetylglucosamine 2", "n acetylglucosamine 2 epimerase", "uridine diphosphate n acetylglucosamine 2", "diphosphate n acetylglucosamine 2 epimerase", "isoform", "kinase isoform", "isoform 1", "acetylmannosamine kinase isoform", "kinase isoform 1", "epimerase/n acetylmannosamine kinase isoform", "acetylmannosamine kinase isoform 1", "2 epimerase/n acetylmannosamine kinase isoform", "epimerase/n acetylmannosamine kinase isoform 1" ] }, { "record_id": "MONDO:0958326", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958326", "0958326", "mim:620762", "620762" ] }, { "record_id": "MONDO:0958326", "record_type": "disease", "section": "disease_name", "phraselist": [ "macular", "dystrophy", "with", "or", "without", "cone", "dysfunction", "macular dystrophy", "dystrophy with", "with or", "or without", "without cone", "cone dysfunction", "macular dystrophy with", "dystrophy with or", "with or without", "or without cone", "without cone dysfunction", "macular dystrophy with or", "dystrophy with or without", "with or without cone", "or without cone dysfunction", "macular dystrophy with or without", "dystrophy with or without cone", "with or without cone dysfunction" ] }, { "record_id": "MONDO:0958326", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958326", "record_type": "disease", "section": "proteins", "phraselist": [ "q7z3h4", "q7z3h4 1", "samd7_human", "np_001291295", "glycoprotein", "samd7", "mdcd" ] }, { "record_id": "MONDO:0958326", "record_type": "disease", "section": "proteins", "phraselist": [ "sterile", "alpha", "motif", "domain", "containing", "protein", "sterile alpha", "alpha motif", "motif domain", "domain containing", "containing protein", "protein 7", "sterile alpha motif", "alpha motif domain", "motif domain containing", "domain containing protein", "containing protein 7", "sterile alpha motif domain", "alpha motif domain containing", "motif domain containing protein", "domain containing protein 7", "sterile alpha motif domain containing", "alpha motif domain containing protein", "motif domain containing protein 7", "sam", "sam domain", "sam domain containing", "sam domain containing protein", "sam domain containing protein 7" ] }, { "record_id": "MONDO:0958328", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958328", "0958328", "mim:620767", "620767" ] }, { "record_id": "MONDO:0958328", "record_type": "disease", "section": "disease_name", "phraselist": [ "seckel", "syndrome", "11", "seckel syndrome", "syndrome 11", "seckel syndrome 11" ] }, { "record_id": "MONDO:0958328", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958328", "record_type": "disease", "section": "proteins", "phraselist": [ "q9c0d2", "q9c0d2 1", "ce295_human", "np_203753", "glycoprotein", "cep295", "kiaa1731", "sckl11" ] }, { "record_id": "MONDO:0958328", "record_type": "disease", "section": "proteins", "phraselist": [ "centrosomal", "protein", "of", "295", "kda", "centrosomal protein", "protein of", "of 295", "295 kda", "centrosomal protein of", "protein of 295", "of 295 kda", "centrosomal protein of 295", "protein of 295 kda", "centrosomal protein of 295 kda", "centriolar", "cep295", "centriolar protein", "protein cep295", "centriolar protein cep295", "295kda", "protein 295kda", "centrosomal protein 295kda" ] }, { "record_id": "MONDO:0958329", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958329", "0958329", "mim:620771", "620771" ] }, { "record_id": "MONDO:0958329", "record_type": "disease", "section": "disease_name", "phraselist": [ "jeffries", "lakhani", "neurodevelopmental", "syndrome", "jeffries lakhani", "lakhani neurodevelopmental", "neurodevelopmental syndrome", "jeffries lakhani neurodevelopmental", "lakhani neurodevelopmental syndrome", "jeffries lakhani neurodevelopmental syndrome" ] }, { "record_id": "MONDO:0958329", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958329", "record_type": "disease", "section": "proteins", "phraselist": [ "q96hd1", "q96hd1 1", "crel1_human", "np_001026887", "glycoprotein", "creld1", "avsd2", "cirrin", "jelans", "pro214" ] }, { "record_id": "MONDO:0958329", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "disulfide", "isomerase", "creld1", "protein disulfide", "disulfide isomerase", "isomerase creld1", "protein disulfide isomerase", "disulfide isomerase creld1", "protein disulfide isomerase creld1", "5.3.4.1", "cysteine", "rich", "with", "egf", "like", "domain", "cysteine rich", "rich with", "with egf", "egf like", "like domain", "domain protein", "protein 1", "cysteine rich with", "rich with egf", "with egf like", "egf like domain", "like domain protein", "domain protein 1", "cysteine rich with egf", "rich with egf like", "with egf like domain", "egf like domain protein", "like domain protein 1", "cysteine rich with egf like", "rich with egf like domain", "with egf like domain protein", "egf like domain protein 1", "domains", "like domains", "domains 1", "egf like domains", "like domains 1", "with egf like domains", "egf like domains 1", "rich with egf like domains", "with egf like domains 1", "isoform", "precursor", "creld1 isoform", "isoform 1", "1 precursor", "isomerase creld1 isoform", "creld1 isoform 1", "isoform 1 precursor", "disulfide isomerase creld1 isoform", "isomerase creld1 isoform 1", "creld1 isoform 1 precursor", "protein disulfide isomerase creld1 isoform", "disulfide isomerase creld1 isoform 1", "isomerase creld1 isoform 1 precursor" ] }, { "record_id": "MONDO:0958330", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958330", "0958330", "mim:620772", "620772" ] }, { "record_id": "MONDO:0958330", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "and", "epileptic", "encephalopathy", "113", "developmental and", "and epileptic", "epileptic encephalopathy", "encephalopathy 113", "developmental and epileptic", "and epileptic encephalopathy", "epileptic encephalopathy 113", "developmental and epileptic encephalopathy", "and epileptic encephalopathy 113", "developmental and epileptic encephalopathy 113" ] }, { "record_id": "MONDO:0958331", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958331", "0958331", "mim:620774", "620774" ] }, { "record_id": "MONDO:0958331", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "and", "epileptic", "encephalopathy", "114", "developmental and", "and epileptic", "epileptic encephalopathy", "encephalopathy 114", "developmental and epileptic", "and epileptic encephalopathy", "epileptic encephalopathy 114", "developmental and epileptic encephalopathy", "and epileptic encephalopathy 114", "developmental and epileptic encephalopathy 114" ] }, { "record_id": "MONDO:0958332", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958332", "0958332", "mim:620775", "620775" ] }, { "record_id": "MONDO:0958332", "record_type": "disease", "section": "disease_name", "phraselist": [ "neuromuscular", "disorder", "congenital", "with", "dysmorphic", "facies", "neuromuscular disorder", "with dysmorphic", "dysmorphic facies", "disorder congenital", "congenital with", "with dysmorphic facies", "neuromuscular disorder congenital", "congenital with dysmorphic", "disorder congenital with", "congenital with dysmorphic facies" ] }, { "record_id": "MONDO:0958332", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958332", "record_type": "disease", "section": "proteins", "phraselist": [ "q7z7b0", "q7z7b0 1", "flip1_human", "np_001276916", "glycoprotein", "filip1", "filip", "kiaa1275", "nmdf" ] }, { "record_id": "MONDO:0958332", "record_type": "disease", "section": "proteins", "phraselist": [ "filamin", "interacting", "protein", "filamin a", "a interacting", "interacting protein", "protein 1", "filamin a interacting", "a interacting protein", "interacting protein 1", "filamin a interacting protein", "a interacting protein 1", "filamin a interacting protein 1", "filip", "isoform", "1 isoform", "isoform 1", "protein 1 isoform", "1 isoform 1", "interacting protein 1 isoform", "protein 1 isoform 1", "a interacting protein 1 isoform", "interacting protein 1 isoform 1" ] }, { "record_id": "MONDO:0958333", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958333", "0958333", "mim:620776", "620776" ] }, { "record_id": "MONDO:0958333", "record_type": "disease", "section": "disease_name", "phraselist": [ "thrombocytopenia", "13", "syndromic", "thrombocytopenia 13", "13 syndromic", "thrombocytopenia 13 syndromic" ] }, { "record_id": "MONDO:0958333", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958333", "record_type": "disease", "section": "proteins", "phraselist": [ "q14376", "q14376 1", "gale_human", "np_000394", "glycoprotein", "gale", "sdr1e1", "thc13" ] }, { "record_id": "MONDO:0958333", "record_type": "disease", "section": "proteins", "phraselist": [ "udp", "glucose", "epimerase", "udp glucose", "glucose 4", "4 epimerase", "udp glucose 4", "glucose 4 epimerase", "udp glucose 4 epimerase", "5.1.3.2", "5.1.3.7", "galactowaldenase", "galactose", "4'", "udp galactose", "galactose 4'", "4' epimerase", "udp galactose 4'", "galactose 4' epimerase", "udp galactose 4' epimerase", "galnac", "udp galnac", "galnac 4", "udp galnac 4", "galnac 4 epimerase", "udp galnac 4 epimerase", "glcnac", "udp glcnac", "glcnac 4", "udp glcnac 4", "glcnac 4 epimerase", "udp glcnac 4 epimerase", "acetylgalactosamine", "udp n", "n acetylgalactosamine", "acetylgalactosamine 4", "udp n acetylgalactosamine", "n acetylgalactosamine 4", "acetylgalactosamine 4 epimerase", "udp n acetylgalactosamine 4", "n acetylgalactosamine 4 epimerase", "udp n acetylgalactosamine 4 epimerase", "acetylglucosamine", "n acetylglucosamine", "acetylglucosamine 4", "udp n acetylglucosamine", "n acetylglucosamine 4", "acetylglucosamine 4 epimerase", "udp n acetylglucosamine 4", "n acetylglucosamine 4 epimerase", "udp n acetylglucosamine 4 epimerase", "galactose 4", "udp galactose 4", "galactose 4 epimerase", "udp galactose 4 epimerase", "epididymis", "secretory", "sperm", "binding", "protein", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "epimerase udp", "4 epimerase udp", "galactose 4 epimerase udp", "short", "chain", "dehydrogenase/reductase", "family", "1e", "member", "short chain", "chain dehydrogenase/reductase", "dehydrogenase/reductase family", "family 1e", "member 1", "short chain dehydrogenase/reductase", "chain dehydrogenase/reductase family", "dehydrogenase/reductase family 1e", "1e member", "short chain dehydrogenase/reductase family", "chain dehydrogenase/reductase family 1e", "family 1e member", "1e member 1", "short chain dehydrogenase/reductase family 1e", "dehydrogenase/reductase family 1e member", "family 1e member 1" ] }, { "record_id": "MONDO:0958334", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958334", "0958334", "mim:620777", "620777" ] }, { "record_id": "MONDO:0958334", "record_type": "disease", "section": "disease_name", "phraselist": [ "pulmonary", "hypertension", "primary", "pulmonary hypertension", "hypertension primary", "primary 6", "pulmonary hypertension primary", "hypertension primary 6" ] }, { "record_id": "MONDO:0958334", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958334", "record_type": "disease", "section": "proteins", "phraselist": [ "p04632", "p04632 1", "cpns1_human", "np_001003962", "glycoprotein", "capns1", "calpain4", "canps", "canp", "capn4", "capns", "cdps", "css1", "pph6" ] }, { "record_id": "MONDO:0958334", "record_type": "disease", "section": "proteins", "phraselist": [ "calpain", "small", "subunit", "calpain small", "small subunit", "subunit 1", "calpain small subunit", "small subunit 1", "calpain small subunit 1", "canp", "canp small", "canp small subunit", "cdps", "css1", "calcium", "activated", "neutral", "proteinase", "calcium activated", "activated neutral", "neutral proteinase", "proteinase small", "calcium activated neutral", "activated neutral proteinase", "neutral proteinase small", "proteinase small subunit", "calcium activated neutral proteinase", "activated neutral proteinase small", "neutral proteinase small subunit", "calcium activated neutral proteinase small", "activated neutral proteinase small subunit", "dependent", "protease", "calcium dependent", "dependent protease", "protease small", "calcium dependent protease", "dependent protease small", "protease small subunit", "calcium dependent protease small", "dependent protease small subunit", "protease small subunit 1", "calcium dependent protease small subunit", "dependent protease small subunit 1", "regulatory", "calpain regulatory", "regulatory subunit", "calpain regulatory subunit", "30k", "calpain 4", "4 small", "subunit 30k", "calpain 4 small", "4 small subunit", "small subunit 30k", "calpain 4 small subunit", "isoform", "1 isoform", "isoform 1", "subunit 1 isoform", "1 isoform 1", "small subunit 1 isoform", "subunit 1 isoform 1", "calpain small subunit 1 isoform", "small subunit 1 isoform 1", "polypeptide", "small polypeptide", "calpain small polypeptide", "epididymis", "secretory", "sperm", "binding", "protein", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein" ] }, { "record_id": "MONDO:0958335", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0958335", "0958335", "mim:620780", "620780" ] }, { "record_id": "MONDO:0958335", "record_type": "disease", "section": "disease_name", "phraselist": [ "cutis", "laxa", "autosomal", "recessive", "type", "1d", "cutis laxa", "autosomal recessive", "type 1d", "laxa autosomal", "recessive type", "cutis laxa autosomal", "laxa autosomal recessive", "autosomal recessive type", "recessive type 1d", "cutis laxa autosomal recessive", "autosomal recessive type 1d", "recessive 1d", "autosomal recessive 1d" ] }, { "record_id": "MONDO:0958335", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0958335", "record_type": "disease", "section": "proteins", "phraselist": [ "q12805", "q12805 1", "fbln3_human", "np_001034437", "glycoprotein", "efemp1", "arcl1d", "dhrd", "drad", "fbln3", "fbnl", "fibl", "fibl 3", "glc1h", "mlvt", "mtlv", "s1", "s1 5" ] }, { "record_id": "MONDO:0958335", "record_type": "disease", "section": "proteins", "phraselist": [ "egf", "containing", "fibulin", "like", "extracellular", "matrix", "protein", "egf containing", "containing fibulin", "fibulin like", "like extracellular", "extracellular matrix", "matrix protein", "protein 1", "egf containing fibulin", "containing fibulin like", "fibulin like extracellular", "like extracellular matrix", "extracellular matrix protein", "matrix protein 1", "egf containing fibulin like", "containing fibulin like extracellular", "fibulin like extracellular matrix", "like extracellular matrix protein", "extracellular matrix protein 1", "egf containing fibulin like extracellular", "containing fibulin like extracellular matrix", "fibulin like extracellular matrix protein", "like extracellular matrix protein 1", "fibulin extracellular", "containing fibulin extracellular", "fibulin extracellular matrix", "egf containing fibulin extracellular", "containing fibulin extracellular matrix", "fibulin extracellular matrix protein", "egf containing fibulin extracellular matrix", "containing fibulin extracellular matrix protein", "fibulin extracellular matrix protein 1", "isoform", "precursor", "1 isoform", "isoform 1", "1 precursor", "protein 1 isoform", "1 isoform 1", "isoform 1 precursor", "matrix protein 1 isoform", "protein 1 isoform 1", "1 isoform 1 precursor", "extracellular matrix protein 1 isoform", "matrix protein 1 isoform 1", "protein 1 isoform 1 precursor", "s1", "extracellular protein", "protein s1", "s1 5", "extracellular protein s1", "protein s1 5", "extracellular protein s1 5", "fibl", "fibl 3", "fibrillin", "fibrillin like", "like protein", "fibrillin like protein", "fibulin 3", "glaucoma", "open", "angle", "adult", "onset", "glaucoma 1", "open angle", "adult onset", "1 open", "angle h", "h adult", "glaucoma 1 open", "1 open angle", "open angle h", "h adult onset", "glaucoma 1 open angle", "angle h adult" ] }, { "record_id": "MONDO:0968945", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0968945", "0968945", "mim:620782", "620782" ] }, { "record_id": "MONDO:0968945", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "language", "impairment", "autism", "and", "attention", "deficit", "hyperactivity", "neurodevelopmental disorder", "disorder with", "with language", "language impairment", "and attention", "attention deficit", "deficit hyperactivity", "hyperactivity disorder", "neurodevelopmental disorder with", "disorder with language", "with language impairment", "impairment autism", "autism and", "and attention deficit", "attention deficit hyperactivity", "deficit hyperactivity disorder", "neurodevelopmental disorder with language", "disorder with language impairment", "language impairment autism", "autism and attention", "and attention deficit hyperactivity", "attention deficit hyperactivity disorder", "neurodevelopmental disorder with language impairment", "with language impairment autism", "impairment autism and", "autism and attention deficit", "and attention deficit hyperactivity disorder" ] }, { "record_id": "MONDO:0968945", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0968945", "record_type": "disease", "section": "proteins", "phraselist": [ "q14444", "q14444 1", "capr1_human", "np_005889", "glycoprotein", "caprin1", "condcac", "gpiap1", "gpip137", "grip137", "m11s1", "nedlaad", "rng105", "p137gpi" ] }, { "record_id": "MONDO:0968945", "record_type": "disease", "section": "proteins", "phraselist": [ "caprin", "caprin 1", "cell", "cycle", "associated", "protein", "cell cycle", "cycle associated", "associated protein", "protein 1", "cell cycle associated", "cycle associated protein", "associated protein 1", "cell cycle associated protein", "cycle associated protein 1", "cell cycle associated protein 1", "cytoplasmic", "activation", "and", "proliferation", "cytoplasmic activation", "and proliferation", "proliferation associated", "activation and", "and proliferation associated", "proliferation associated protein", "cytoplasmic activation and", "activation and proliferation", "and proliferation associated protein", "proliferation associated protein 1", "cytoplasmic activation and proliferation", "activation and proliferation associated", "and proliferation associated protein 1", "gpi", "anchored", "membrane", "gpi anchored", "anchored membrane", "membrane protein", "gpi anchored membrane", "anchored membrane protein", "membrane protein 1", "gpi anchored membrane protein", "anchored membrane protein 1", "gpi anchored membrane protein 1", "p137", "anchored protein", "protein p137", "gpi anchored protein", "anchored protein p137", "gpi anchored protein p137", "gpi p137", "component", "chromosome", "11", "surface", "marker", "membrane component", "component chromosome", "chromosome 11", "11 surface", "surface marker", "marker 1", "membrane component chromosome", "component chromosome 11", "chromosome 11 surface", "11 surface marker", "surface marker 1", "membrane component chromosome 11", "component chromosome 11 surface", "chromosome 11 surface marker", "11 surface marker 1", "membrane component chromosome 11 surface", "component chromosome 11 surface marker", "chromosome 11 surface marker 1", "rna", "granule", "105", "rna granule", "granule protein", "protein 105", "rna granule protein", "granule protein 105", "rna granule protein 105", "activation/proliferation", "activation/proliferation associated", "activation/proliferation associated protein", "activation/proliferation associated protein 1", "isoform", "1 isoform", "isoform 1", "caprin 1 isoform", "1 isoform 1", "caprin 1 isoform 1", "cytoplasmic activation/proliferation", "cytoplasmic activation/proliferation associated", "cytoplasmic activation/proliferation associated protein", "cytoplasmic activation/proliferation associated protein 1", "p137gpi" ] }, { "record_id": "MONDO:0968946", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0968946", "0968946", "mim:620783", "620783" ] }, { "record_id": "MONDO:0968946", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "and", "epileptic", "encephalopathy", "115", "developmental and", "and epileptic", "epileptic encephalopathy", "encephalopathy 115", "developmental and epileptic", "and epileptic encephalopathy", "epileptic encephalopathy 115", "developmental and epileptic encephalopathy", "and epileptic encephalopathy 115", "developmental and epileptic encephalopathy 115" ] }, { "record_id": "MONDO:0968947", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0968947", "0968947", "mim:620784", "620784" ] }, { "record_id": "MONDO:0968947", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "plus", "optic", "atrophy", "neurodevelopmental disorder", "disorder plus", "plus optic", "optic atrophy", "neurodevelopmental disorder plus", "disorder plus optic", "plus optic atrophy", "neurodevelopmental disorder plus optic", "disorder plus optic atrophy", "neurodevelopmental disorder plus optic atrophy" ] }, { "record_id": "MONDO:0968947", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0968947", "record_type": "disease", "section": "proteins", "phraselist": [ "q96h20", "q96h20 1", "snf8_human", "np_001304121", "snf8", "dee115", "dot3", "eap30", "nedoa", "vps22" ] }, { "record_id": "MONDO:0968947", "record_type": "disease", "section": "proteins", "phraselist": [ "vacuolar", "sorting", "protein", "snf8", "vacuolar sorting", "sorting protein", "protein snf8", "vacuolar sorting protein", "sorting protein snf8", "vacuolar sorting protein snf8", "eap30", "subunit", "of", "ell", "complex", "eap30 subunit", "subunit of", "of ell", "ell complex", "eap30 subunit of", "subunit of ell", "of ell complex", "eap30 subunit of ell", "subunit of ell complex", "eap30 subunit of ell complex", "associated", "30", "kda", "ell associated", "associated protein", "protein of", "of 30", "30 kda", "ell associated protein", "associated protein of", "protein of 30", "of 30 kda", "ell associated protein of", "associated protein of 30", "protein of 30 kda", "ell associated protein of 30", "associated protein of 30 kda", "escrt", "ii", "vps22", "escrt ii", "ii complex", "complex subunit", "subunit vps22", "escrt ii complex", "ii complex subunit", "complex subunit vps22", "escrt ii complex subunit", "ii complex subunit vps22", "escrt ii complex subunit vps22", "homolog", "snf8 escrt", "subunit homolog", "snf8 escrt ii", "complex subunit homolog", "snf8 escrt ii complex", "ii complex subunit homolog", "hvps22", "isoform", "snf8 isoform", "isoform 2", "protein snf8 isoform", "snf8 isoform 2", "sorting protein snf8 isoform", "protein snf8 isoform 2", "vacuolar sorting protein snf8 isoform", "sorting protein snf8 isoform 2" ] }, { "record_id": "MONDO:0968976", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0968976", "0968976", "mim:620785", "620785" ] }, { "record_id": "MONDO:0968976", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "progressive", "movement", "abnormalities", "neurodevelopmental disorder", "disorder with", "with progressive", "progressive movement", "movement abnormalities", "neurodevelopmental disorder with", "disorder with progressive", "with progressive movement", "progressive movement abnormalities", "neurodevelopmental disorder with progressive", "disorder with progressive movement", "with progressive movement abnormalities", "neurodevelopmental disorder with progressive movement", "disorder with progressive movement abnormalities" ] }, { "record_id": "MONDO:0968976", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0968976", "record_type": "disease", "section": "proteins", "phraselist": [ "q9br61", "q9br61 1", "acbd6_human", "np_115736", "acbd6", "nedpm" ] }, { "record_id": "MONDO:0968976", "record_type": "disease", "section": "proteins", "phraselist": [ "acyl", "coa", "binding", "domain", "containing", "protein", "acyl coa", "coa binding", "binding domain", "domain containing", "containing protein", "protein 6", "acyl coa binding", "coa binding domain", "binding domain containing", "domain containing protein", "containing protein 6", "acyl coa binding domain", "coa binding domain containing", "binding domain containing protein", "domain containing protein 6", "acyl coa binding domain containing", "coa binding domain containing protein", "binding domain containing protein 6", "coenzyme", "acyl coenzyme", "coenzyme a", "a binding", "containing 6", "acyl coenzyme a", "coenzyme a binding", "a binding domain", "domain containing 6", "acyl coenzyme a binding", "coenzyme a binding domain", "a binding domain containing", "binding domain containing 6", "acyl coenzyme a binding domain", "coenzyme a binding domain containing", "a binding domain containing 6" ] }, { "record_id": "MONDO:0968977", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0968977", "0968977", "mim:620786", "620786" ] }, { "record_id": "MONDO:0968977", "record_type": "disease", "section": "disease_name", "phraselist": [ "basal", "ganglia", "calcification", "idiopathic", "autosomal", "recessive", "basal ganglia", "ganglia calcification", "autosomal recessive", "basal ganglia calcification", "calcification idiopathic", "idiopathic 9", "9 autosomal", "ganglia calcification idiopathic", "9 autosomal recessive", "basal ganglia calcification idiopathic", "calcification idiopathic 9", "idiopathic 9 autosomal" ] }, { "record_id": "MONDO:0968977", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0968977", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h7x0", "q9h7x0 1", "naa60_human", "np_001077069", "naa60", "hat4", "ibgc9", "nat15", "natf", "pro7155", "hnaa60" ] }, { "record_id": "MONDO:0968977", "record_type": "disease", "section": "proteins", "phraselist": [ "alpha", "acetyltransferase", "60", "n alpha", "alpha acetyltransferase", "acetyltransferase 60", "n alpha acetyltransferase", "alpha acetyltransferase 60", "n alpha acetyltransferase 60", "2.3.1.259", "2.3.1.48", "hat4", "histone", "type", "protein", "histone acetyltransferase", "acetyltransferase type", "type b", "b protein", "protein 4", "histone acetyltransferase type", "acetyltransferase type b", "type b protein", "b protein 4", "histone acetyltransferase type b", "acetyltransferase type b protein", "type b protein 4", "histone acetyltransferase type b protein", "acetyltransferase type b protein 4", "15", "gcn5", "related", "putative", "n acetyltransferase", "acetyltransferase 15", "gcn5 related", "n acetyltransferase 15", "15 gcn5", "related putative", "acetyltransferase 15 gcn5", "15 gcn5 related", "gcn5 related putative", "n acetyltransferase 15 gcn5", "acetyltransferase 15 gcn5 related", "isoform", "60 isoform", "isoform a", "acetyltransferase 60 isoform", "60 isoform a", "alpha acetyltransferase 60 isoform", "acetyltransferase 60 isoform a", "n alpha acetyltransferase 60 isoform", "alpha acetyltransferase 60 isoform a", "acetyltransferase f", "alpha acetyltransferase f", "n alpha acetyltransferase f", "natf", "epididymis", "secretory", "sperm", "binding", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "hnaa60" ] }, { "record_id": "MONDO:0968978", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0968978", "0968978", "mim:620789", "620789" ] }, { "record_id": "MONDO:0968978", "record_type": "disease", "section": "disease_name", "phraselist": [ "aplasia", "cutis", "enamel", "dysplasia", "syndrome", "aplasia cutis", "cutis enamel", "enamel dysplasia", "dysplasia syndrome", "aplasia cutis enamel", "cutis enamel dysplasia", "enamel dysplasia syndrome", "aplasia cutis enamel dysplasia", "cutis enamel dysplasia syndrome", "aplasia cutis enamel dysplasia syndrome", "congenital", "scalp", "hypoplasia", "developmental", "delay", "intellectual", "disability", "congenital scalp", "scalp aplasia", "enamel hypoplasia", "hypoplasia developmental", "developmental delay", "delay intellectual", "intellectual disability", "disability syndrome", "congenital scalp aplasia", "scalp aplasia cutis", "cutis enamel hypoplasia", "enamel hypoplasia developmental", "hypoplasia developmental delay", "developmental delay intellectual", "delay intellectual disability", "intellectual disability syndrome", "congenital scalp aplasia cutis", "scalp aplasia cutis enamel", "aplasia cutis enamel hypoplasia", "cutis enamel hypoplasia developmental", "enamel hypoplasia developmental delay", "hypoplasia developmental delay intellectual", "developmental delay intellectual disability", "delay intellectual disability syndrome", "congenital scalp aplasia cutis enamel", "scalp aplasia cutis enamel hypoplasia", "aplasia cutis enamel hypoplasia developmental", "cutis enamel hypoplasia developmental delay", "enamel hypoplasia developmental delay intellectual", "hypoplasia developmental delay intellectual disability", "developmental delay intellectual disability syndrome", "fosl2", "related", "neurodevelopmental", "disorder", "fosl2 related", "related neurodevelopmental", "neurodevelopmental disorder", "fosl2 related neurodevelopmental", "related neurodevelopmental disorder", "fosl2 related neurodevelopmental disorder" ] }, { "record_id": "MONDO:0968978", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0968978", "record_type": "disease", "section": "proteins", "phraselist": [ "p15408", "p15408 1", "fosl2_human", "np_005244", "glycoprotein", "fosl2", "aced", "fra2" ] }, { "record_id": "MONDO:0968978", "record_type": "disease", "section": "proteins", "phraselist": [ "fos", "related", "antigen", "fos related", "related antigen", "antigen 2", "fos related antigen", "related antigen 2", "fos related antigen 2", "like", "ap", "trancription", "factor", "subunit", "fos like", "like 2", "ap 1", "1 trancription", "trancription factor", "factor subunit", "fos like 2", "2 ap", "ap 1 trancription", "1 trancription factor", "trancription factor subunit", "like 2 ap", "2 ap 1", "ap 1 trancription factor", "1 trancription factor subunit", "fos like 2 ap", "like 2 ap 1", "2 ap 1 trancription", "ap 1 trancription factor subunit", "like antigen", "fos like antigen", "like antigen 2", "fos like antigen 2", "fra", "fra 2" ] }, { "record_id": "MONDO:0968979", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0968979", "0968979", "mim:620790", "620790" ] }, { "record_id": "MONDO:0968979", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hypotonia", "and", "seizures", "neurodevelopmental disorder", "disorder with", "with hypotonia", "hypotonia and", "and seizures", "neurodevelopmental disorder with", "disorder with hypotonia", "with hypotonia and", "hypotonia and seizures", "neurodevelopmental disorder with hypotonia", "disorder with hypotonia and", "with hypotonia and seizures", "neurodevelopmental disorder with hypotonia and", "disorder with hypotonia and seizures" ] }, { "record_id": "MONDO:0968979", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0968979", "record_type": "disease", "section": "proteins", "phraselist": [ "q8te49", "q8te49 1", "otu7a_human", "np_570971", "glycoprotein", "otud7a", "c15orf16", "c16orf15", "cezanne2", "nedhs", "otud7" ] }, { "record_id": "MONDO:0968979", "record_type": "disease", "section": "proteins", "phraselist": [ "otu", "domain", "containing", "protein", "7a", "otu domain", "domain containing", "containing protein", "protein 7a", "otu domain containing", "domain containing protein", "containing protein 7a", "otu domain containing protein", "domain containing protein 7a", "otu domain containing protein 7a", "3.4.19.12", "containing 7a", "domain containing 7a", "otu domain containing 7a", "isoform", "7a isoform", "isoform 1", "protein 7a isoform", "7a isoform 1", "containing protein 7a isoform", "protein 7a isoform 1", "domain containing protein 7a isoform", "containing protein 7a isoform 1", "zinc", "finger", "cezanne", "zinc finger", "finger protein", "protein cezanne", "cezanne 2", "zinc finger protein", "finger protein cezanne", "protein cezanne 2", "zinc finger protein cezanne", "finger protein cezanne 2", "zinc finger protein cezanne 2" ] }, { "record_id": "MONDO:0968980", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0968980", "0968980", "mim:620792", "620792" ] }, { "record_id": "MONDO:0968980", "record_type": "disease", "section": "disease_name", "phraselist": [ "otosclerosis", "12", "otosclerosis 12" ] }, { "record_id": "MONDO:0968980", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0968980", "record_type": "disease", "section": "proteins", "phraselist": [ "p51532", "p51532 1", "smca4_human", "np_001122316", "glycoprotein", "smarca4", "baf190a", "baf190", "brg1", "css4", "mrd16", "otsc12", "rtps2", "snf2", "beta", "snf2 beta", "snf2b", "snf2l4", "snf2lb", "swi2", "hsnf2b" ] }, { "record_id": "MONDO:0968980", "record_type": "disease", "section": "proteins", "phraselist": [ "swi/snf", "related", "matrix", "associated", "actin", "dependent", "regulator", "of", "chromatin", "subfamily", "member", "swi/snf related", "related matrix", "matrix associated", "associated actin", "actin dependent", "dependent regulator", "regulator of", "of chromatin", "chromatin subfamily", "subfamily a", "a member", "member 4", "swi/snf related matrix", "related matrix associated", "matrix associated actin", "associated actin dependent", "actin dependent regulator", "dependent regulator of", "regulator of chromatin", "of chromatin subfamily", "chromatin subfamily a", "subfamily a member", "a member 4", "swi/snf related matrix associated", "related matrix associated actin", "matrix associated actin dependent", "associated actin dependent regulator", "actin dependent regulator of", "dependent regulator of chromatin", "regulator of chromatin subfamily", "of chromatin subfamily a", "chromatin subfamily a member", "subfamily a member 4", "swi/snf related matrix associated actin", "related matrix associated actin dependent", "matrix associated actin dependent regulator", "associated actin dependent regulator of", "actin dependent regulator of chromatin", "dependent regulator of chromatin subfamily", "regulator of chromatin subfamily a", "of chromatin subfamily a member", "chromatin subfamily a member 4", "3.6.4.", "atp", "helicase", "smarca4", "atp dependent", "dependent helicase", "helicase smarca4", "atp dependent helicase", "dependent helicase smarca4", "atp dependent helicase smarca4", "baf190a", "brg1", "factor", "190a", "brg1 associated", "associated factor", "factor 190a", "brg1 associated factor", "associated factor 190a", "brg1 associated factor 190a", "brm/swi2", "gene", "brm/swi2 related", "related gene", "gene 1", "brm/swi2 related gene", "related gene 1", "brm/swi2 related gene 1", "mitotic", "growth", "and", "transcription", "activator", "mitotic growth", "growth and", "and transcription", "transcription activator", "mitotic growth and", "growth and transcription", "and transcription activator", "mitotic growth and transcription", "growth and transcription activator", "mitotic growth and transcription activator", "protein", "brg", "protein brg", "brg 1", "protein brg 1", "brahma", "homolog", "protein brahma", "brahma homolog", "homolog 1", "protein brahma homolog", "brahma homolog 1", "protein brahma homolog 1", "snf2", "beta", "snf2 beta", "like", "snf2 like", "like 4", "snf2 like 4", "isoform", "4 isoform", "isoform b", "member 4 isoform", "4 isoform b", "a member 4 isoform", "member 4 isoform b", "subfamily a member 4 isoform", "a member 4 isoform b", "activator brg1", "transcription activator brg1", "brahma protein", "protein like", "like 1", "brahma protein like", "protein like 1", "brahma protein like 1", "global", "homologous", "sequence", "global transcription", "activator homologous", "homologous sequence", "global transcription activator", "transcription activator homologous", "activator homologous sequence", "global transcription activator homologous", "transcription activator homologous sequence", "global transcription activator homologous sequence", "homeotic", "homeotic gene", "gene regulator", "homeotic gene regulator", "nuclear", "grb1", "nuclear protein", "protein grb1", "nuclear protein grb1", "sucrose", "nonfermenting", "sucrose nonfermenting", "nonfermenting like", "sucrose nonfermenting like", "nonfermenting like 4", "sucrose nonfermenting like 4" ] }, { "record_id": "MONDO:0968982", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0968982", "0968982", "mim:620795", "620795" ] }, { "record_id": "MONDO:0968982", "record_type": "disease", "section": "disease_name", "phraselist": [ "autoinflammation", "with", "episodic", "fever", "and", "immune", "dysregulation", "autoinflammation with", "with episodic", "episodic fever", "fever and", "and immune", "immune dysregulation", "autoinflammation with episodic", "with episodic fever", "episodic fever and", "fever and immune", "and immune dysregulation", "autoinflammation with episodic fever", "with episodic fever and", "episodic fever and immune", "fever and immune dysregulation", "autoinflammation with episodic fever and", "with episodic fever and immune", "episodic fever and immune dysregulation" ] }, { "record_id": "MONDO:0968982", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0968982", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h0f6", "q9h0f6 1", "shrpn_human", "np_112236", "sharpin", "aifid", "psec0216", "sipl1" ] }, { "record_id": "MONDO:0968982", "record_type": "disease", "section": "proteins", "phraselist": [ "sharpin", "shank", "associated", "rh", "domain", "interacting", "protein", "shank associated", "associated rh", "rh domain", "domain interacting", "interacting protein", "shank associated rh", "associated rh domain", "rh domain interacting", "domain interacting protein", "shank associated rh domain", "associated rh domain interacting", "rh domain interacting protein", "shank associated rh domain interacting", "associated rh domain interacting protein", "like", "shank interacting", "protein like", "like 1", "shank interacting protein", "interacting protein like", "protein like 1", "shank interacting protein like", "interacting protein like 1", "shank interacting protein like 1", "hsipl1" ] }, { "record_id": "MONDO:0968983", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0968983", "0968983", "mim:620796", "620796" ] }, { "record_id": "MONDO:0968983", "record_type": "disease", "section": "disease_name", "phraselist": [ "proteasome", "associated", "autoinflammatory", "syndrome", "proteasome associated", "associated autoinflammatory", "autoinflammatory syndrome", "syndrome 6", "proteasome associated autoinflammatory", "associated autoinflammatory syndrome", "autoinflammatory syndrome 6", "proteasome associated autoinflammatory syndrome", "associated autoinflammatory syndrome 6", "proteasome associated autoinflammatory syndrome 6" ] }, { "record_id": "MONDO:0968983", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0968983", "record_type": "disease", "section": "proteins", "phraselist": [ "p28065", "p28065 1", "psb9_human", "np_002791", "glycoprotein", "psmb9", "lmp2", "praas3", "praas6", "psmb6i", "ring12", "beta1i" ] }, { "record_id": "MONDO:0968983", "record_type": "disease", "section": "proteins", "phraselist": [ "proteasome", "subunit", "beta", "type", "proteasome subunit", "subunit beta", "beta type", "type 9", "proteasome subunit beta", "subunit beta type", "beta type 9", "proteasome subunit beta type", "subunit beta type 9", "proteasome subunit beta type 9", "3.4.25.1", "low", "molecular", "mass", "protein", "low molecular", "molecular mass", "mass protein", "protein 2", "low molecular mass", "molecular mass protein", "mass protein 2", "low molecular mass protein", "molecular mass protein 2", "low molecular mass protein 2", "macropain", "chain", "macropain chain", "chain 7", "macropain chain 7", "multicatalytic", "endopeptidase", "complex", "multicatalytic endopeptidase", "endopeptidase complex", "complex chain", "multicatalytic endopeptidase complex", "endopeptidase complex chain", "complex chain 7", "multicatalytic endopeptidase complex chain", "endopeptidase complex chain 7", "multicatalytic endopeptidase complex chain 7", "proteasome chain", "proteasome chain 7", "1i", "beta 1i", "subunit beta 1i", "proteasome subunit beta 1i", "really", "interesting", "new", "gene", "12", "really interesting", "interesting new", "new gene", "gene 12", "12 protein", "really interesting new", "interesting new gene", "new gene 12", "gene 12 protein", "really interesting new gene", "interesting new gene 12", "new gene 12 protein", "really interesting new gene 12", "interesting new gene 12 protein", "prosome", "large", "multifunctional", "peptidase", "large multifunctional", "multifunctional peptidase", "peptidase 2", "proteasome prosome", "prosome macropain", "macropain subunit", "9 large", "large multifunctional peptidase", "multifunctional peptidase 2", "9 large multifunctional", "large multifunctional peptidase 2", "proteasome prosome macropain", "prosome macropain subunit", "macropain subunit beta", "type 9 large", "9 large multifunctional peptidase", "catalytic", "proteasome catalytic", "catalytic subunit", "subunit 1i", "proteasome catalytic subunit", "catalytic subunit 1i", "proteasome catalytic subunit 1i", "6i", "beta 6i", "subunit beta 6i", "proteasome subunit beta 6i", "beta 9", "subunit beta 9", "proteasome subunit beta 9", "precursor", "9 precursor", "type 9 precursor", "beta type 9 precursor", "subunit beta type 9 precursor", "beta1i", "subunit beta1i", "proteasome subunit beta1i", "related", "proteasome related", "related gene", "gene 2", "proteasome related gene", "related gene 2", "proteasome related gene 2" ] }, { "record_id": "MONDO:0970950", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0970950", "0970950", "mim:620819", "620819" ] }, { "record_id": "MONDO:0970950", "record_type": "disease", "section": "disease_name", "phraselist": [ "rothmund", "thomson", "syndrome", "type", "rothmund thomson", "thomson syndrome", "syndrome type", "type 4", "rothmund thomson syndrome", "thomson syndrome type", "syndrome type 4", "rothmund thomson syndrome type", "thomson syndrome type 4", "rothmund thomson syndrome type 4", "syndrome 4", "thomson syndrome 4", "rothmund thomson syndrome 4" ] }, { "record_id": "MONDO:0970950", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0970950", "record_type": "disease", "section": "proteins", "phraselist": [ "p51530", "p51530 1", "dna2_human", "np_001073918", "glycoprotein", "dna2", "dna2l", "kiaa0083", "rts4", "hdna2" ] }, { "record_id": "MONDO:0970950", "record_type": "disease", "section": "proteins", "phraselist": [ "dna", "replication", "atp", "dependent", "helicase/nuclease", "dna2", "dna replication", "replication atp", "atp dependent", "dependent helicase/nuclease", "helicase/nuclease dna2", "dna replication atp", "replication atp dependent", "atp dependent helicase/nuclease", "dependent helicase/nuclease dna2", "dna replication atp dependent", "replication atp dependent helicase/nuclease", "atp dependent helicase/nuclease dna2", "dna replication atp dependent helicase/nuclease", "replication atp dependent helicase/nuclease dna2", "5'", "3'", "helicase", "dna 5'", "5' 3'", "3' helicase", "helicase dna2", "dna 5' 3'", "5' 3' helicase", "3' helicase dna2", "dna 5' 3' helicase", "5' 3' helicase dna2", "dna 5' 3' helicase dna2", "like", "homolog", "dependent helicase", "helicase like", "like homolog", "atp dependent helicase", "dependent helicase like", "helicase like homolog", "replication atp dependent helicase", "atp dependent helicase like", "dependent helicase like homolog", "dna replication atp dependent helicase", "replication atp dependent helicase like", "atp dependent helicase like homolog", "replication helicase", "helicase 2", "2 homolog", "dna replication helicase", "replication helicase 2", "helicase 2 homolog", "dna replication helicase 2", "replication helicase 2 homolog", "dna replication helicase 2 homolog", "dna2 dna", "2 like", "dna2 dna replication", "helicase 2 like", "dna2 dna replication helicase", "replication helicase 2 like", "dna2 dna replication helicase 2", "dna replication helicase 2 like", "dna2 like", "like helicase", "dna2 like helicase", "hdna2" ] }, { "record_id": "MONDO:0970951", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0970951", "0970951", "mim:620820", "620820" ] }, { "record_id": "MONDO:0970951", "record_type": "disease", "section": "disease_name", "phraselist": [ "el", "hayek", "chahrour", "neurodevelopmental", "disorder", "el hayek", "hayek chahrour", "chahrour neurodevelopmental", "neurodevelopmental disorder", "el hayek chahrour", "hayek chahrour neurodevelopmental", "chahrour neurodevelopmental disorder", "el hayek chahrour neurodevelopmental", "hayek chahrour neurodevelopmental disorder", "el hayek chahrour neurodevelopmental disorder", "syndrome", "neurodevelopmental syndrome", "chahrour neurodevelopmental syndrome", "hayek chahrour neurodevelopmental syndrome", "el hayek chahrour neurodevelopmental syndrome" ] }, { "record_id": "MONDO:0970951", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0970951", "record_type": "disease", "section": "proteins", "phraselist": [ "p29375", "p29375 1", "kdm5a_human", "np_001036068", "glycoprotein", "kdm5a", "jarid1a", "nedehc", "rbbp", "rbbp 2", "rbbp2", "rbp2" ] }, { "record_id": "MONDO:0970951", "record_type": "disease", "section": "proteins", "phraselist": [ "lysine", "specific", "demethylase", "5a", "lysine specific", "specific demethylase", "demethylase 5a", "lysine specific demethylase", "specific demethylase 5a", "lysine specific demethylase 5a", "1.14.11.67", "histone", "jarid1a", "histone demethylase", "demethylase jarid1a", "histone demethylase jarid1a", "jumonji", "at", "rich", "interactive", "domain", "1a", "rbp2", "like", "at rich", "rich interactive", "interactive domain", "domain 1a", "rbp2 like", "jumonji at", "at rich interactive", "rich interactive domain", "interactive domain 1a", "1a rbp2", "jumonji at rich", "at rich interactive domain", "rich interactive domain 1a", "domain 1a rbp2", "1a rbp2 like", "jumonji at rich interactive", "at rich interactive domain 1a", "interactive domain 1a rbp2", "domain 1a rbp2 like", "jumonji/arid", "containing", "protein", "jumonji/arid domain", "domain containing", "containing protein", "protein 1a", "jumonji/arid domain containing", "domain containing protein", "containing protein 1a", "jumonji/arid domain containing protein", "domain containing protein 1a", "jumonji/arid domain containing protein 1a", "rbbp", "rbbp 2", "retinoblastoma", "binding", "retinoblastoma binding", "binding protein", "protein 2", "retinoblastoma binding protein", "binding protein 2", "retinoblastoma binding protein 2", "h3", "trimethyl", "histone h3", "trimethyl l", "l lysine", "lysine 4", "h3 trimethyl", "trimethyl l lysine", "l lysine 4", "4 demethylase", "histone h3 trimethyl", "h3 trimethyl l", "trimethyl l lysine 4", "lysine 4 demethylase", "4 demethylase 5a", "histone h3 trimethyl l", "h3 trimethyl l lysine", "l lysine 4 demethylase", "lysine 4 demethylase 5a", "lysine k", "k specific", "k specific demethylase", "lysine k specific", "k specific demethylase 5a" ] }, { "record_id": "MONDO:0970995", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0970995", "0970995", "mim:620840", "620840" ] }, { "record_id": "MONDO:0970995", "record_type": "disease", "section": "disease_name", "phraselist": [ "premature", "ovarian", "failure", "24", "premature ovarian", "ovarian failure", "failure 24", "premature ovarian failure", "ovarian failure 24", "premature ovarian failure 24" ] }, { "record_id": "MONDO:0970995", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0970995", "record_type": "disease", "section": "proteins", "phraselist": [ "q5t4t6", "q5t4t6 1", "syc2l_human", "np_001035364", "sycp2l", "c6orf177", "no145", "pof24", "dj62d2.1" ] }, { "record_id": "MONDO:0970995", "record_type": "disease", "section": "proteins", "phraselist": [ "synaptonemal", "complex", "protein", "like", "synaptonemal complex", "complex protein", "protein 2", "2 like", "synaptonemal complex protein", "complex protein 2", "protein 2 like", "synaptonemal complex protein 2", "complex protein 2 like", "synaptonemal complex protein 2 like", "145", "kda", "nucleolar", "homolog", "145 kda", "kda nucleolar", "nucleolar protein", "protein homolog", "145 kda nucleolar", "kda nucleolar protein", "nucleolar protein homolog", "145 kda nucleolar protein", "kda nucleolar protein homolog", "145 kda nucleolar protein homolog", "scp", "scp 2", "scp 2 like", "hsno145" ] }, { "record_id": "MONDO:0970998", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0970998", "0970998", "mim:620830", "620830" ] }, { "record_id": "MONDO:0970998", "record_type": "disease", "section": "disease_name", "phraselist": [ "auroneurodental", "syndrome", "auroneurodental syndrome" ] }, { "record_id": "MONDO:0970998", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0970998", "record_type": "disease", "section": "proteins", "phraselist": [ "q93015", "q93015 1", "naa80_human", "np_001186947", "glycoprotein", "naa80", "ands", "fus", "fus 2", "fus2", "hsnaaa80", "nat6" ] }, { "record_id": "MONDO:0970998", "record_type": "disease", "section": "proteins", "phraselist": [ "alpha", "acetyltransferase", "80", "n alpha", "alpha acetyltransferase", "acetyltransferase 80", "n alpha acetyltransferase", "alpha acetyltransferase 80", "n alpha acetyltransferase 80", "2.3.1.", "hsnaaa80", "gcn5", "related", "n acetyltransferase", "acetyltransferase 6", "gcn5 related", "n acetyltransferase 6", "6 gcn5", "acetyltransferase 6 gcn5", "6 gcn5 related", "n acetyltransferase 6 gcn5", "acetyltransferase 6 gcn5 related", "isoform", "80 isoform", "isoform 2", "acetyltransferase 80 isoform", "80 isoform 2", "alpha acetyltransferase 80 isoform", "acetyltransferase 80 isoform 2", "n alpha acetyltransferase 80 isoform", "alpha acetyltransferase 80 isoform 2", "protein", "fus", "protein fus", "fus 2", "protein fus 2", "fusion", "protein fusion", "fusion 2", "protein fusion 2" ] }, { "record_id": "MONDO:0971007", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971007", "0971007", "mim:619539", "619539" ] }, { "record_id": "MONDO:0971007", "record_type": "disease", "section": "disease_name", "phraselist": [ "neuroocular", "syndrome", "neuroocular syndrome", "syndrome 1", "neuroocular syndrome 1", "multiple", "congenital", "anomalies", "neurodevelopmental", "delay", "ocular", "abnormalities", "multiple congenital", "congenital anomalies", "anomalies neurodevelopmental", "neurodevelopmental delay", "delay ocular", "ocular abnormalities", "abnormalities syndrome", "multiple congenital anomalies", "congenital anomalies neurodevelopmental", "anomalies neurodevelopmental delay", "neurodevelopmental delay ocular", "delay ocular abnormalities", "ocular abnormalities syndrome", "multiple congenital anomalies neurodevelopmental", "congenital anomalies neurodevelopmental delay", "anomalies neurodevelopmental delay ocular", "neurodevelopmental delay ocular abnormalities", "delay ocular abnormalities syndrome", "multiple congenital anomalies neurodevelopmental delay", "congenital anomalies neurodevelopmental delay ocular", "anomalies neurodevelopmental delay ocular abnormalities", "neurodevelopmental delay ocular abnormalities syndrome" ] }, { "record_id": "MONDO:0971007", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971007", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ull5", "q9ull5 3", "prr12_human", "np_065770", "glycoprotein", "prr12", "kiaa1205", "noc" ] }, { "record_id": "MONDO:0971007", "record_type": "disease", "section": "proteins", "phraselist": [ "proline", "rich", "protein", "12", "proline rich", "rich protein", "protein 12", "proline rich protein", "rich protein 12", "proline rich protein 12" ] }, { "record_id": "MONDO:0971008", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971008", "0971008", "mim:620657", "620657" ] }, { "record_id": "MONDO:0971008", "record_type": "disease", "section": "disease_name", "phraselist": [ "amyloidosis", "hereditary", "systemic", "hereditary systemic", "systemic 3", "amyloidosis hereditary", "hereditary systemic 3", "amyloidosis hereditary systemic", "amyloidosis hereditary systemic 3" ] }, { "record_id": "MONDO:0971008", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971008", "record_type": "disease", "section": "proteins", "phraselist": [ "p02647", "p02647 1", "apoa1_human", "np_000030", "glycoprotein", "apoa1", "amyld3", "hpalp2", "apo", "apo a" ] }, { "record_id": "MONDO:0971008", "record_type": "disease", "section": "proteins", "phraselist": [ "apolipoprotein", "apolipoprotein a", "a i", "apolipoprotein a i", "apo", "ai", "apo ai", "apoa", "apoa i", "242", "i 1", "1 242", "a i 1", "i 1 242", "apolipoprotein a i 1", "a i 1 242", "apolipoprotein a i 1 242", "a1", "apolipoprotein a1", "isoform", "preproprotein", "i isoform", "isoform 1", "1 preproprotein", "a i isoform", "i isoform 1", "isoform 1 preproprotein", "apolipoprotein a i isoform", "a i isoform 1", "i isoform 1 preproprotein", "apolipoprotein a i isoform 1", "a i isoform 1 preproprotein", "epididymis", "secretory", "sperm", "binding", "protein", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein" ] }, { "record_id": "MONDO:0971009", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971009", "0971009", "mim:620658", "620658" ] }, { "record_id": "MONDO:0971009", "record_type": "disease", "section": "disease_name", "phraselist": [ "amyloidosis", "hereditary", "systemic", "hereditary systemic", "systemic 5", "amyloidosis hereditary", "hereditary systemic 5", "amyloidosis hereditary systemic", "amyloidosis hereditary systemic 5" ] }, { "record_id": "MONDO:0971009", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971009", "record_type": "disease", "section": "proteins", "phraselist": [ "p61626", "p61626 1", "lysc_human", "np_000230", "glycoprotein", "lyz", "amyld5", "lyzf1", "lzm" ] }, { "record_id": "MONDO:0971009", "record_type": "disease", "section": "proteins", "phraselist": [ "lysozyme", "lysozyme c", "beta", "acetylmuramidase", "1 4", "4 beta", "beta n", "n acetylmuramidase", "acetylmuramidase c", "1 4 beta", "4 beta n", "beta n acetylmuramidase", "n acetylmuramidase c", "1 4 beta n", "4 beta n acetylmuramidase", "beta n acetylmuramidase c", "1 4 beta n acetylmuramidase", "4 beta n acetylmuramidase c", "3.2.1.17", "type", "c type", "type lysozyme", "c type lysozyme", "precursor", "c precursor", "lysozyme c precursor", "f1", "lysozyme f1" ] }, { "record_id": "MONDO:0971010", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971010", "0971010", "mim:620659", "620659" ] }, { "record_id": "MONDO:0971010", "record_type": "disease", "section": "disease_name", "phraselist": [ "amyloidosis", "hereditary", "systemic", "hereditary systemic", "systemic 6", "amyloidosis hereditary", "hereditary systemic 6", "amyloidosis hereditary systemic", "amyloidosis hereditary systemic 6" ] }, { "record_id": "MONDO:0971010", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971010", "record_type": "disease", "section": "proteins", "phraselist": [ "p61769", "p61769 1", "b2mg_human", "np_004039", "glycoprotein", "b2m", "amyld6", "cdabp0092", "hdcma22p", "imd43", "mhc1d4" ] }, { "record_id": "MONDO:0971010", "record_type": "disease", "section": "proteins", "phraselist": [ "beta", "microglobulin", "beta 2", "2 microglobulin", "beta 2 microglobulin", "chain", "of", "mhc", "class", "molecules", "beta chain", "chain of", "of mhc", "mhc class", "class i", "i molecules", "beta chain of", "chain of mhc", "of mhc class", "mhc class i", "class i molecules", "beta chain of mhc", "chain of mhc class", "of mhc class i", "mhc class i molecules", "beta chain of mhc class", "chain of mhc class i", "of mhc class i molecules", "microglobin", "2 microglobin", "beta 2 microglobin", "precursor", "microglobulin precursor", "2 microglobulin precursor", "beta 2 microglobulin precursor" ] }, { "record_id": "MONDO:0971011", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971011", "0971011", "mim:620813", "620813" ] }, { "record_id": "MONDO:0971011", "record_type": "disease", "section": "disease_name", "phraselist": [ "mhc", "class", "deficiency", "mhc class", "class i", "i deficiency", "deficiency 2", "mhc class i", "class i deficiency", "i deficiency 2", "mhc class i deficiency", "class i deficiency 2", "mhc class i deficiency 2" ] }, { "record_id": "MONDO:0971011", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971011", "record_type": "disease", "section": "proteins", "phraselist": [ "q03519", "q03519 1", "tap2_human", "np_000535", "glycoprotein", "tap2", "abc18", "abcb3", "apt2", "d6s217e", "mhc1d2", "psf", "psf 2", "psf2", "ring11", "y1" ] }, { "record_id": "MONDO:0971011", "record_type": "disease", "section": "proteins", "phraselist": [ "antigen", "peptide", "transporter", "antigen peptide", "peptide transporter", "transporter 2", "antigen peptide transporter", "peptide transporter 2", "antigen peptide transporter 2", "7.4.2.14", "abc", "mhc", "abc transporter", "mhc 2", "transporter mhc", "abc transporter mhc", "transporter mhc 2", "abc transporter mhc 2", "apt2", "atp", "binding", "cassette", "sub", "family", "member", "atp binding", "binding cassette", "cassette sub", "sub family", "family b", "b member", "member 3", "atp binding cassette", "binding cassette sub", "cassette sub family", "sub family b", "family b member", "b member 3", "atp binding cassette sub", "binding cassette sub family", "cassette sub family b", "sub family b member", "family b member 3", "atp binding cassette sub family", "binding cassette sub family b", "cassette sub family b member", "sub family b member 3", "mdr/tap", "b mdr/tap", "family b mdr/tap", "mdr/tap member", "sub family b mdr/tap", "mdr/tap member 3", "psf", "psf 2", "supply", "factor", "peptide supply", "supply factor", "factor 2", "peptide supply factor", "supply factor 2", "peptide supply factor 2", "psf2", "transporter psf2", "peptide transporter psf2", "tap2", "transporter tap2", "peptide transporter tap2", "involved", "in", "processing", "transporter involved", "involved in", "in antigen", "antigen processing", "processing 2", "peptide transporter involved", "transporter involved in", "involved in antigen", "in antigen processing", "antigen processing 2", "peptide transporter involved in", "transporter involved in antigen", "involved in antigen processing", "in antigen processing 2", "peptide transporter involved in antigen", "transporter involved in antigen processing", "involved in antigen processing 2", "ring11", "really", "interesting", "new", "gene", "11", "protein", "really interesting", "interesting new", "new gene", "gene 11", "11 protein", "really interesting new", "interesting new gene", "new gene 11", "gene 11 protein", "really interesting new gene", "interesting new gene 11", "new gene 11 protein", "really interesting new gene 11", "interesting new gene 11 protein", "isoform", "2 isoform", "isoform 1", "transporter 2 isoform", "2 isoform 1", "peptide transporter 2 isoform", "transporter 2 isoform 1", "antigen peptide transporter 2 isoform", "peptide transporter 2 isoform 1", "2 abc", "abc atp", "transporter 2 abc", "abc atp binding", "2 abc atp", "abc atp binding cassette", "2 atp", "transporter 2 atp", "2 atp binding", "transporter 2 atp binding", "2 atp binding cassette" ] }, { "record_id": "MONDO:0971012", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971012", "0971012", "mim:620814", "620814" ] }, { "record_id": "MONDO:0971012", "record_type": "disease", "section": "disease_name", "phraselist": [ "mhc", "class", "deficiency", "mhc class", "class i", "i deficiency", "deficiency 3", "mhc class i", "class i deficiency", "i deficiency 3", "mhc class i deficiency", "class i deficiency 3", "mhc class i deficiency 3" ] }, { "record_id": "MONDO:0971012", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971012", "record_type": "disease", "section": "proteins", "phraselist": [ "o15533", "o15533 1", "tpsn_human", "np_003181", "glycoprotein", "tapbp", "mhc1d3", "ngs17", "tapa", "tpn", "tpsn" ] }, { "record_id": "MONDO:0971012", "record_type": "disease", "section": "proteins", "phraselist": [ "tapasin", "ngs", "17", "ngs 17", "tap", "binding", "protein", "tap binding", "binding protein", "tap binding protein", "protein tapasin", "binding protein tapasin", "tap binding protein tapasin", "associated", "tap associated", "associated protein", "tap associated protein", "tpn", "tpsn", "isoform", "precursor", "tapasin isoform", "isoform 1", "1 precursor", "tapasin isoform 1", "isoform 1 precursor", "tapasin isoform 1 precursor" ] }, { "record_id": "MONDO:0971013", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971013", "0971013", "mim:620815", "620815" ] }, { "record_id": "MONDO:0971013", "record_type": "disease", "section": "disease_name", "phraselist": [ "mhc", "class", "ii", "deficiency", "mhc class", "class ii", "ii deficiency", "deficiency 2", "mhc class ii", "class ii deficiency", "ii deficiency 2", "mhc class ii deficiency", "class ii deficiency 2", "mhc class ii deficiency 2" ] }, { "record_id": "MONDO:0971013", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971013", "record_type": "disease", "section": "proteins", "phraselist": [ "o14593", "o14593 1", "rfxk_human", "np_001265656", "rfxank", "ankra1", "bls", "f14150_1", "mhc2d2", "rfx", "rfx b", "rfxb" ] }, { "record_id": "MONDO:0971013", "record_type": "disease", "section": "proteins", "phraselist": [ "dna", "binding", "protein", "rfxank", "dna binding", "binding protein", "protein rfxank", "dna binding protein", "binding protein rfxank", "dna binding protein rfxank", "ankyrin", "repeat", "family", "ankyrin repeat", "repeat family", "family a", "a protein", "protein 1", "ankyrin repeat family", "repeat family a", "family a protein", "a protein 1", "ankyrin repeat family a", "repeat family a protein", "family a protein 1", "ankyrin repeat family a protein", "repeat family a protein 1", "isoform", "rfxank isoform", "isoform c", "protein rfxank isoform", "rfxank isoform c", "binding protein rfxank isoform", "protein rfxank isoform c", "dna binding protein rfxank isoform", "binding protein rfxank isoform c", "rfx", "bdelta4", "rfx bdelta4", "rfx b", "regulatory", "factor", "subunit", "regulatory factor", "factor x", "x subunit", "subunit b", "regulatory factor x", "factor x subunit", "x subunit b", "regulatory factor x subunit", "factor x subunit b", "regulatory factor x subunit b", "associated", "containing", "x associated", "associated ankyrin", "ankyrin containing", "containing protein", "factor x associated", "x associated ankyrin", "associated ankyrin containing", "ankyrin containing protein", "regulatory factor x associated", "factor x associated ankyrin", "x associated ankyrin containing", "associated ankyrin containing protein", "regulatory factor x associated ankyrin", "factor x associated ankyrin containing", "x associated ankyrin containing protein", "repeat containing", "containing regulatory", "associated protein", "ankyrin repeat containing", "repeat containing regulatory", "containing regulatory factor", "x associated protein", "ankyrin repeat containing regulatory", "repeat containing regulatory factor", "containing regulatory factor x", "factor x associated protein", "ankyrin repeat containing regulatory factor", "repeat containing regulatory factor x", "containing regulatory factor x associated", "regulatory factor x associated protein" ] }, { "record_id": "MONDO:0971014", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971014", "0971014", "mim:620816", "620816" ] }, { "record_id": "MONDO:0971014", "record_type": "disease", "section": "disease_name", "phraselist": [ "mhc", "class", "ii", "deficiency", "mhc class", "class ii", "ii deficiency", "deficiency 3", "mhc class ii", "class ii deficiency", "ii deficiency 3", "mhc class ii deficiency", "class ii deficiency 3", "mhc class ii deficiency 3" ] }, { "record_id": "MONDO:0971014", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971014", "record_type": "disease", "section": "proteins", "phraselist": [ "p48382", "p48382 1", "rfx5_human", "np_000440", "glycoprotein", "rfx5", "mhc2d3", "mhc2d5" ] }, { "record_id": "MONDO:0971014", "record_type": "disease", "section": "proteins", "phraselist": [ "dna", "binding", "protein", "rfx5", "dna binding", "binding protein", "protein rfx5", "dna binding protein", "binding protein rfx5", "dna binding protein rfx5", "isoform", "rfx5 isoform", "isoform 1", "protein rfx5 isoform", "rfx5 isoform 1", "binding protein rfx5 isoform", "protein rfx5 isoform 1", "dna binding protein rfx5 isoform", "binding protein rfx5 isoform 1", "regulatory", "factor", "regulatory factor", "factor x", "x 5", "regulatory factor x", "factor x 5", "regulatory factor x 5", "influences", "hla", "class", "ii", "expression", "influences hla", "hla class", "class ii", "ii expression", "5 influences", "influences hla class", "hla class ii", "class ii expression", "5 influences hla", "influences hla class ii", "hla class ii expression", "x 5 influences", "5 influences hla class", "influences hla class ii expression" ] }, { "record_id": "MONDO:0971015", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971015", "0971015", "mim:620817", "620817" ] }, { "record_id": "MONDO:0971015", "record_type": "disease", "section": "disease_name", "phraselist": [ "mhc", "class", "ii", "deficiency", "mhc class", "class ii", "ii deficiency", "deficiency 4", "mhc class ii", "class ii deficiency", "ii deficiency 4", "mhc class ii deficiency", "class ii deficiency 4", "mhc class ii deficiency 4" ] }, { "record_id": "MONDO:0971015", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971015", "record_type": "disease", "section": "proteins", "phraselist": [ "o00287", "o00287 1", "rfxap_human", "np_000529", "glycoprotein", "rfxap", "mhc2d4" ] }, { "record_id": "MONDO:0971015", "record_type": "disease", "section": "proteins", "phraselist": [ "regulatory", "factor", "associated", "protein", "regulatory factor", "factor x", "x associated", "associated protein", "regulatory factor x", "factor x associated", "x associated protein", "regulatory factor x associated", "factor x associated protein", "regulatory factor x associated protein", "rfx", "dna", "binding", "complex", "36", "kda", "subunit", "rfx dna", "dna binding", "binding complex", "complex 36", "36 kda", "kda subunit", "rfx dna binding", "dna binding complex", "binding complex 36", "complex 36 kda", "36 kda subunit", "rfx dna binding complex", "dna binding complex 36", "binding complex 36 kda", "complex 36 kda subunit", "rfx dna binding complex 36", "dna binding complex 36 kda", "binding complex 36 kda subunit", "rfx associated", "rfx associated protein" ] }, { "record_id": "MONDO:0971016", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971016", "0971016", "mim:620818", "620818" ] }, { "record_id": "MONDO:0971016", "record_type": "disease", "section": "disease_name", "phraselist": [ "mhc", "class", "ii", "deficiency", "mhc class", "class ii", "ii deficiency", "deficiency 5", "mhc class ii", "class ii deficiency", "ii deficiency 5", "mhc class ii deficiency", "class ii deficiency 5", "mhc class ii deficiency 5" ] }, { "record_id": "MONDO:0971016", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971016", "record_type": "disease", "section": "proteins", "phraselist": [ "p48382", "p48382 1", "rfx5_human", "np_000440", "glycoprotein", "rfx5", "mhc2d3", "mhc2d5" ] }, { "record_id": "MONDO:0971016", "record_type": "disease", "section": "proteins", "phraselist": [ "dna", "binding", "protein", "rfx5", "dna binding", "binding protein", "protein rfx5", "dna binding protein", "binding protein rfx5", "dna binding protein rfx5", "isoform", "rfx5 isoform", "isoform 1", "protein rfx5 isoform", "rfx5 isoform 1", "binding protein rfx5 isoform", "protein rfx5 isoform 1", "dna binding protein rfx5 isoform", "binding protein rfx5 isoform 1", "regulatory", "factor", "regulatory factor", "factor x", "x 5", "regulatory factor x", "factor x 5", "regulatory factor x 5", "influences", "hla", "class", "ii", "expression", "influences hla", "hla class", "class ii", "ii expression", "5 influences", "influences hla class", "hla class ii", "class ii expression", "5 influences hla", "influences hla class ii", "hla class ii expression", "x 5 influences", "5 influences hla class", "influences hla class ii expression" ] }, { "record_id": "MONDO:0971043", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971043", "0971043", "mim:620852", "620852" ] }, { "record_id": "MONDO:0971043", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hypotonia", "feeding", "difficulties", "facial", "dysmorphism", "and", "brain", "abnormalities", "neurodevelopmental disorder", "disorder with", "with hypotonia", "feeding difficulties", "facial dysmorphism", "and brain", "brain abnormalities", "neurodevelopmental disorder with", "disorder with hypotonia", "hypotonia feeding", "difficulties facial", "dysmorphism and", "and brain abnormalities", "neurodevelopmental disorder with hypotonia", "with hypotonia feeding", "hypotonia feeding difficulties", "feeding difficulties facial", "difficulties facial dysmorphism", "facial dysmorphism and", "dysmorphism and brain", "disorder with hypotonia feeding", "with hypotonia feeding difficulties", "feeding difficulties facial dysmorphism", "facial dysmorphism and brain", "dysmorphism and brain abnormalities" ] }, { "record_id": "MONDO:0971043", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971043", "record_type": "disease", "section": "proteins", "phraselist": [ "o75554", "o75554 1", "wbp4_human", "np_009118", "glycoprotein", "wbp4", "fbp21", "fnbp21", "nedhfdb" ] }, { "record_id": "MONDO:0971043", "record_type": "disease", "section": "proteins", "phraselist": [ "ww", "domain", "binding", "protein", "ww domain", "domain binding", "binding protein", "protein 4", "ww domain binding", "domain binding protein", "binding protein 4", "ww domain binding protein", "domain binding protein 4", "ww domain binding protein 4", "formin", "21", "formin binding", "protein 21", "formin binding protein", "binding protein 21", "formin binding protein 21", "wbp", "wbp 4", "containing", "domain containing", "containing binding", "ww domain containing", "domain containing binding", "containing binding protein", "ww domain containing binding", "domain containing binding protein", "containing binding protein 4", "ww domain containing binding protein", "domain containing binding protein 4" ] }, { "record_id": "MONDO:0971044", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971044", "0971044", "mim:620865", "620865" ] }, { "record_id": "MONDO:0971044", "record_type": "disease", "section": "disease_name", "phraselist": [ "ehlers", "danlos", "syndrome", "classic", "like", "ehlers danlos", "danlos syndrome", "classic like", "ehlers danlos syndrome", "syndrome classic", "like 3", "danlos syndrome classic", "syndrome classic like", "classic like 3", "ehlers danlos syndrome classic", "danlos syndrome classic like" ] }, { "record_id": "MONDO:0971044", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971044", "record_type": "disease", "section": "proteins", "phraselist": [ "p35442", "p35442 1", "tsp2_human", "np_003238", "glycoprotein", "thbs2", "edscll3", "tsp2" ] }, { "record_id": "MONDO:0971044", "record_type": "disease", "section": "proteins", "phraselist": [ "thrombospondin", "thrombospondin 2", "isoform", "precursor", "2 isoform", "isoform 1", "1 precursor", "thrombospondin 2 isoform", "2 isoform 1", "isoform 1 precursor", "thrombospondin 2 isoform 1", "2 isoform 1 precursor", "thrombospondin 2 isoform 1 precursor" ] }, { "record_id": "MONDO:0971150", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971150", "0971150", "mim:620854", "620854" ] }, { "record_id": "MONDO:0971150", "record_type": "disease", "section": "disease_name", "phraselist": [ "neuronopathy", "distal", "hereditary", "motor", "autosomal", "recessive", "11", "with", "spasticity", "distal hereditary", "hereditary motor", "autosomal recessive", "recessive 11", "with spasticity", "neuronopathy distal", "distal hereditary motor", "motor autosomal", "autosomal recessive 11", "11 with", "neuronopathy distal hereditary", "hereditary motor autosomal", "motor autosomal recessive", "recessive 11 with", "11 with spasticity", "neuronopathy distal hereditary motor", "distal hereditary motor autosomal", "hereditary motor autosomal recessive", "motor autosomal recessive 11", "autosomal recessive 11 with", "recessive 11 with spasticity" ] }, { "record_id": "MONDO:0971150", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971150", "record_type": "disease", "section": "proteins", "phraselist": [ "o75298", "o75298 1", "rtn2_human", "np_005610", "glycoprotein", "rtn2", "hmnr11", "nsp2", "nspl1", "nspli", "spg12" ] }, { "record_id": "MONDO:0971150", "record_type": "disease", "section": "proteins", "phraselist": [ "reticulon", "reticulon 2", "nsp", "like", "protein", "nsp like", "like protein", "protein 1", "nsp like protein", "like protein 1", "nsp like protein 1", "protein i", "like protein i", "nsp like protein i", "nspli", "neuroendocrine", "specific", "neuroendocrine specific", "specific protein", "protein like", "like 1", "neuroendocrine specific protein", "specific protein like", "protein like 1", "neuroendocrine specific protein like", "specific protein like 1", "neuroendocrine specific protein like 1", "like i", "protein like i", "specific protein like i", "neuroendocrine specific protein like i", "isoform", "2 isoform", "isoform a", "reticulon 2 isoform", "2 isoform a", "reticulon 2 isoform a" ] }, { "record_id": "MONDO:0971170", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971170", "0971170", "mim:301120", "301120" ] }, { "record_id": "MONDO:0971170", "record_type": "disease", "section": "disease_name", "phraselist": [ "prostate", "cancer", "hereditary", "linked", "prostate cancer", "x linked", "linked 3", "cancer hereditary", "hereditary x", "x linked 3", "prostate cancer hereditary", "hereditary x linked", "cancer hereditary x", "hereditary x linked 3" ] }, { "record_id": "MONDO:0971170", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971170", "record_type": "disease", "section": "proteins", "phraselist": [ "p10275", "p10275 1", "andr_human", "np_000035", "glycoprotein", "ar", "ais", "ar8", "dhtr", "humara", "hysp1", "kd", "nr3c4", "sbma", "smax1", "tfm" ] }, { "record_id": "MONDO:0971170", "record_type": "disease", "section": "proteins", "phraselist": [ "androgen", "receptor", "androgen receptor", "dihydrotestosterone", "dihydrotestosterone receptor", "nuclear", "subfamily", "group", "member", "nuclear receptor", "receptor subfamily", "subfamily 3", "3 group", "group c", "c member", "member 4", "nuclear receptor subfamily", "receptor subfamily 3", "subfamily 3 group", "3 group c", "group c member", "c member 4", "nuclear receptor subfamily 3", "receptor subfamily 3 group", "subfamily 3 group c", "3 group c member", "group c member 4", "nuclear receptor subfamily 3 group", "receptor subfamily 3 group c", "subfamily 3 group c member", "3 group c member 4", "isoform", "receptor isoform", "isoform 1", "androgen receptor isoform", "receptor isoform 1", "androgen receptor isoform 1" ] }, { "record_id": "MONDO:0971173", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971173", "0971173", "mim:620880", "620880" ] }, { "record_id": "MONDO:0971173", "record_type": "disease", "section": "disease_name", "phraselist": [ "autoinflammation", "with", "arthritis", "and", "vasculitis", "autoinflammation with", "with arthritis", "arthritis and", "and vasculitis", "autoinflammation with arthritis", "with arthritis and", "arthritis and vasculitis", "autoinflammation with arthritis and", "with arthritis and vasculitis", "autoinflammation with arthritis and vasculitis" ] }, { "record_id": "MONDO:0971173", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971173", "record_type": "disease", "section": "proteins", "phraselist": [ "q9uhd2", "q9uhd2 1", "tbk1_human", "np_037386", "glycoprotein", "tbk1", "aiarv", "ftdals4", "iiae8", "nak", "t2k" ] }, { "record_id": "MONDO:0971173", "record_type": "disease", "section": "proteins", "phraselist": [ "serine/threonine", "protein", "kinase", "tbk1", "serine/threonine protein", "protein kinase", "kinase tbk1", "serine/threonine protein kinase", "protein kinase tbk1", "serine/threonine protein kinase tbk1", "2.7.11.1", "nf", "kb", "activating", "nf kb", "kb activating", "activating kinase", "nf kb activating", "kb activating kinase", "nf kb activating kinase", "kappa", "nf kappa", "kappa b", "b activating", "nf kappa b", "kappa b activating", "b activating kinase", "nf kappa b activating", "kappa b activating kinase", "nf kappa b activating kinase", "t2k", "tank", "binding", "tank binding", "binding kinase", "kinase 1", "tank binding kinase", "binding kinase 1", "tank binding kinase 1" ] }, { "record_id": "MONDO:0971174", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971174", "0971174", "mim:620887", "620887" ] }, { "record_id": "MONDO:0971174", "record_type": "disease", "section": "disease_name", "phraselist": [ "multiple", "mitochondrial", "dysfunctions", "syndrome", "9b", "multiple mitochondrial", "mitochondrial dysfunctions", "dysfunctions syndrome", "syndrome 9b", "multiple mitochondrial dysfunctions", "mitochondrial dysfunctions syndrome", "dysfunctions syndrome 9b", "multiple mitochondrial dysfunctions syndrome", "mitochondrial dysfunctions syndrome 9b", "multiple mitochondrial dysfunctions syndrome 9b" ] }, { "record_id": "MONDO:0971175", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971175", "0971175", "mim:620894", "620894" ] }, { "record_id": "MONDO:0971175", "record_type": "disease", "section": "disease_name", "phraselist": [ "cardiomyopathy", "dilated", "2k", "cardiomyopathy dilated", "dilated 2k", "cardiomyopathy dilated 2k" ] }, { "record_id": "MONDO:0971175", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971175", "record_type": "disease", "section": "proteins", "phraselist": [ "p0cap1", "p0cap1 1", "myzap_human", "np_001018100", "glycoprotein", "myzap", "gcom1", "grinl1a", "gcom2", "myozap", "polr2m", "myzap polr2m", "gcom" ] }, { "record_id": "MONDO:0971175", "record_type": "disease", "section": "proteins", "phraselist": [ "myocardial", "zonula", "adherens", "protein", "myocardial zonula", "zonula adherens", "adherens protein", "myocardial zonula adherens", "zonula adherens protein", "myocardial zonula adherens protein", "dna", "directed", "rna", "polymerase", "ii", "subunit", "grinl1a", "dna directed", "directed rna", "rna polymerase", "polymerase ii", "ii subunit", "subunit grinl1a", "dna directed rna", "directed rna polymerase", "rna polymerase ii", "polymerase ii subunit", "ii subunit grinl1a", "dna directed rna polymerase", "directed rna polymerase ii", "rna polymerase ii subunit", "polymerase ii subunit grinl1a", "dna directed rna polymerase ii", "directed rna polymerase ii subunit", "rna polymerase ii subunit grinl1a", "subunit m", "ii subunit m", "polymerase ii subunit m", "rna polymerase ii subunit m", "combined", "gcom12", "grinl1a combined", "combined protein", "protein gcom12", "grinl1a combined protein", "combined protein gcom12", "grinl1a combined protein gcom12", "isoform", "protein isoform", "isoform 1", "combined protein isoform", "protein isoform 1", "grinl1a combined protein isoform", "combined protein isoform 1", "grinl1a combined protein isoform 1", "complex", "locus", "grinl1a complex", "complex locus", "locus 1", "grinl1a complex locus", "complex locus 1", "grinl1a complex locus 1", "upstream", "grinl1a upstream", "upstream protein", "grinl1a upstream protein", "glutamate", "receptor", "like", "1a", "glutamate receptor", "receptor like", "like protein", "protein 1a", "glutamate receptor like", "receptor like protein", "like protein 1a", "glutamate receptor like protein", "receptor like protein 1a", "glutamate receptor like protein 1a", "gup", "myzap", "polr2m", "readthrough", "myzap polr2m", "polr2m readthrough", "myzap polr2m readthrough", "nmdar1", "interacting", "nmdar1 subunit", "subunit interacting", "interacting protein", "nmdar1 subunit interacting", "subunit interacting protein", "nmdar1 subunit interacting protein", "ionotropic", "methyl", "aspartate", "n methyl", "methyl d", "d aspartate", "aspartate like", "like 1a", "1a combined", "receptor ionotropic", "ionotropic n", "n methyl d", "methyl d aspartate", "d aspartate like", "aspartate like 1a", "like 1a combined", "1a combined protein", "glutamate receptor ionotropic", "ionotropic n methyl", "n methyl d aspartate", "methyl d aspartate like", "d aspartate like 1a", "aspartate like 1a combined", "like 1a combined protein", "receptor ionotropic n", "ionotropic n methyl d", "n methyl d aspartate like", "methyl d aspartate like 1a", "d aspartate like 1a combined", "aspartate like 1a combined protein" ] }, { "record_id": "MONDO:0971176", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971176", "0971176", "mim:620897", "620897" ] }, { "record_id": "MONDO:0971176", "record_type": "disease", "section": "disease_name", "phraselist": [ "ovarian", "dysgenesis", "11", "ovarian dysgenesis", "dysgenesis 11", "ovarian dysgenesis 11" ] }, { "record_id": "MONDO:0971176", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971176", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n3j3", "q8n3j3 1", "hrob_human", "np_001164722", "glycoprotein", "hrob", "c17orf53", "mcm8ip", "odg11" ] }, { "record_id": "MONDO:0971176", "record_type": "disease", "section": "proteins", "phraselist": [ "homologous", "recombination", "ob", "fold", "protein", "homologous recombination", "recombination ob", "ob fold", "fold protein", "homologous recombination ob", "recombination ob fold", "ob fold protein", "homologous recombination ob fold", "recombination ob fold protein", "homologous recombination ob fold protein", "mcm8", "interacting", "mcm8 9", "9 interacting", "interacting protein", "mcm8 9 interacting", "9 interacting protein", "mcm8 9 interacting protein", "isoform", "protein isoform", "isoform 2", "fold protein isoform", "protein isoform 2", "ob fold protein isoform", "fold protein isoform 2", "recombination ob fold protein isoform", "ob fold protein isoform 2", "recombincation", "factor", "with", "homologous recombincation", "recombincation factor", "factor with", "with ob", "homologous recombincation factor", "recombincation factor with", "factor with ob", "with ob fold", "homologous recombincation factor with", "recombincation factor with ob", "factor with ob fold", "homologous recombincation factor with ob", "recombincation factor with ob fold", "uncharacterized", "c17orf53", "uncharacterized protein", "protein c17orf53", "uncharacterized protein c17orf53" ] }, { "record_id": "MONDO:0971178", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971178", "0971178", "mim:620903", "620903" ] }, { "record_id": "MONDO:0971178", "record_type": "disease", "section": "disease_name", "phraselist": [ "polycystic", "kidney", "disease", "polycystic kidney", "kidney disease", "disease 8", "polycystic kidney disease", "kidney disease 8", "polycystic kidney disease 8" ] }, { "record_id": "MONDO:0971179", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0971179", "0971179", "mim:620908", "620908" ] }, { "record_id": "MONDO:0971179", "record_type": "disease", "section": "disease_name", "phraselist": [ "arterial", "tortuosity", "bone", "fragility", "syndrome", "arterial tortuosity", "tortuosity bone", "bone fragility", "fragility syndrome", "arterial tortuosity bone", "tortuosity bone fragility", "bone fragility syndrome", "arterial tortuosity bone fragility", "tortuosity bone fragility syndrome", "arterial tortuosity bone fragility syndrome", "emilin1", "related", "emilin1 related", "related arterial", "tortuosity syndrome", "emilin1 related arterial", "related arterial tortuosity", "arterial tortuosity syndrome", "emilin1 related arterial tortuosity", "related arterial tortuosity syndrome", "emilin1 related arterial tortuosity syndrome" ] }, { "record_id": "MONDO:0971179", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0971179", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y6c2", "q9y6c2 1", "emil1_human", "np_008977", "glycoprotein", "emilin1", "atbfs", "emilin", "emi", "hmn10", "hmnd10", "gp115" ] }, { "record_id": "MONDO:0971179", "record_type": "disease", "section": "proteins", "phraselist": [ "emilin", "emilin 1", "precursor", "1 precursor", "emilin 1 precursor", "elastin", "microfibril", "interface", "located", "protein", "elastin microfibril", "microfibril interface", "interface located", "located protein", "protein 1", "elastin microfibril interface", "microfibril interface located", "interface located protein", "located protein 1", "elastin microfibril interface located", "microfibril interface located protein", "interface located protein 1", "elastin microfibril interface located protein", "microfibril interface located protein 1", "interfacer", "microfibril interfacer", "interfacer 1", "elastin microfibril interfacer", "microfibril interfacer 1", "elastin microfibril interfacer 1" ] }, { "record_id": "MONDO:0975705", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975705", "0975705", "mim:620910", "620910" ] }, { "record_id": "MONDO:0975705", "record_type": "disease", "section": "disease_name", "phraselist": [ "otofacial", "neurodevelopmental", "syndrome", "otofacial neurodevelopmental", "neurodevelopmental syndrome", "otofacial neurodevelopmental syndrome" ] }, { "record_id": "MONDO:0975705", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975705", "record_type": "disease", "section": "proteins", "phraselist": [ "q96sz4", "q96sz4 1", "zsc10_human", "np_001269344", "glycoprotein", "zscan10", "ofns", "zfp206", "znf206" ] }, { "record_id": "MONDO:0975705", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "and", "scan", "domain", "containing", "protein", "10", "zinc finger", "finger and", "and scan", "scan domain", "domain containing", "containing protein", "protein 10", "zinc finger and", "finger and scan", "and scan domain", "scan domain containing", "domain containing protein", "containing protein 10", "zinc finger and scan", "finger and scan domain", "and scan domain containing", "scan domain containing protein", "domain containing protein 10", "zinc finger and scan domain", "finger and scan domain containing", "and scan domain containing protein", "scan domain containing protein 10", "206", "finger protein", "protein 206", "zinc finger protein", "finger protein 206", "zinc finger protein 206", "isoform", "10 isoform", "isoform 2", "protein 10 isoform", "10 isoform 2", "containing protein 10 isoform", "protein 10 isoform 2", "domain containing protein 10 isoform", "containing protein 10 isoform 2" ] }, { "record_id": "MONDO:0975745", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975745", "0975745", "mim:620888", "620888" ] }, { "record_id": "MONDO:0975745", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "characteristic", "facial", "and", "ectodermal", "features", "tetraparesis", "neurodevelopmental disorder", "disorder with", "with characteristic", "characteristic facial", "facial and", "and ectodermal", "ectodermal features", "features and", "and tetraparesis", "tetraparesis 1", "neurodevelopmental disorder with", "disorder with characteristic", "with characteristic facial", "characteristic facial and", "facial and ectodermal", "and ectodermal features", "ectodermal features and", "features and tetraparesis", "and tetraparesis 1", "neurodevelopmental disorder with characteristic", "disorder with characteristic facial", "with characteristic facial and", "characteristic facial and ectodermal", "facial and ectodermal features", "and ectodermal features and", "ectodermal features and tetraparesis", "features and tetraparesis 1", "neurodevelopmental disorder with characteristic facial", "disorder with characteristic facial and", "with characteristic facial and ectodermal", "characteristic facial and ectodermal features", "facial and ectodermal features and", "and ectodermal features and tetraparesis", "ectodermal features and tetraparesis 1" ] }, { "record_id": "MONDO:0975745", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975745", "record_type": "disease", "section": "proteins", "phraselist": [ "o00178", "o00178 1", "gtpb1_human", "np_004277", "glycoprotein", "gtpbp1", "gp", "gp 1", "gp1", "hspc018", "nedfet1" ] }, { "record_id": "MONDO:0975745", "record_type": "disease", "section": "proteins", "phraselist": [ "gtp", "binding", "protein", "gtp binding", "binding protein", "protein 1", "gtp binding protein", "binding protein 1", "gtp binding protein 1", "3.6.5.3", "g protein", "g protein 1", "gp", "gp 1", "gp1" ] }, { "record_id": "MONDO:0975748", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975748", "0975748", "mim:620923", "620923" ] }, { "record_id": "MONDO:0975748", "record_type": "disease", "section": "disease_name", "phraselist": [ "parkinson", "disease", "26", "autosomal", "dominant", "susceptibility", "to", "parkinson disease", "disease 26", "autosomal dominant", "susceptibility to", "parkinson disease 26", "26 autosomal", "dominant susceptibility", "disease 26 autosomal", "26 autosomal dominant", "autosomal dominant susceptibility", "dominant susceptibility to", "parkinson disease 26 autosomal", "disease 26 autosomal dominant", "autosomal dominant susceptibility to" ] }, { "record_id": "MONDO:0975748", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975748", "record_type": "disease", "section": "proteins", "phraselist": [ "q13637", "q13637 1", "rab32_human", "np_006825", "glycoprotein", "rab32", "park26" ] }, { "record_id": "MONDO:0975748", "record_type": "disease", "section": "proteins", "phraselist": [ "ras", "related", "protein", "rab", "32", "ras related", "related protein", "protein rab", "rab 32", "ras related protein", "related protein rab", "protein rab 32", "ras related protein rab", "related protein rab 32", "ras related protein rab 32", "3.6.5.2" ] }, { "record_id": "MONDO:0975761", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975761", "0975761", "mim:620931", "620931" ] }, { "record_id": "MONDO:0975761", "record_type": "disease", "section": "disease_name", "phraselist": [ "immunodeficiency", "126", "susceptibility", "to", "immunodeficiency 126", "susceptibility to", "126 susceptibility", "immunodeficiency 126 susceptibility", "126 susceptibility to", "immunodeficiency 126 susceptibility to", "combined", "due", "autosomal", "recessive", "pre", "tcr", "alpha", "deficiency", "combined immunodeficiency", "immunodeficiency due", "due to", "to autosomal", "autosomal recessive", "recessive pre", "pre tcr", "tcr alpha", "alpha deficiency", "combined immunodeficiency due", "immunodeficiency due to", "due to autosomal", "to autosomal recessive", "autosomal recessive pre", "recessive pre tcr", "pre tcr alpha", "tcr alpha deficiency", "combined immunodeficiency due to", "immunodeficiency due to autosomal", "due to autosomal recessive", "to autosomal recessive pre", "autosomal recessive pre tcr", "recessive pre tcr alpha", "pre tcr alpha deficiency", "combined immunodeficiency due to autosomal", "immunodeficiency due to autosomal recessive", "due to autosomal recessive pre", "to autosomal recessive pre tcr", "autosomal recessive pre tcr alpha", "recessive pre tcr alpha deficiency" ] }, { "record_id": "MONDO:0975761", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975761", "record_type": "disease", "section": "proteins", "phraselist": [ "q6isu1", "q6isu1 1", "ptcra_human", "np_001230097", "glycoprotein", "ptcra", "imd126", "pt", "alpha", "pt alpha", "pta" ] }, { "record_id": "MONDO:0975761", "record_type": "disease", "section": "proteins", "phraselist": [ "pre", "cell", "antigen", "receptor", "alpha", "pre t", "t cell", "cell antigen", "antigen receptor", "receptor alpha", "pre t cell", "t cell antigen", "cell antigen receptor", "antigen receptor alpha", "pre t cell antigen", "t cell antigen receptor", "cell antigen receptor alpha", "pre t cell antigen receptor", "t cell antigen receptor alpha", "pt", "tcr", "pt alpha", "alpha tcr", "pt alpha tcr", "pta", "isoform", "precursor", "alpha isoform", "isoform 1", "1 precursor", "receptor alpha isoform", "alpha isoform 1", "isoform 1 precursor", "antigen receptor alpha isoform", "receptor alpha isoform 1", "alpha isoform 1 precursor", "cell antigen receptor alpha isoform", "antigen receptor alpha isoform 1", "receptor alpha isoform 1 precursor", "chain", "cell receptor", "alpha chain", "t cell receptor", "cell receptor alpha", "receptor alpha chain", "pre t cell receptor", "t cell receptor alpha", "cell receptor alpha chain", "pre t cell receptor alpha", "t cell receptor alpha chain" ] }, { "record_id": "MONDO:0975797", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975797", "0975797", "mim:620939", "620939" ] }, { "record_id": "MONDO:0975797", "record_type": "disease", "section": "disease_name", "phraselist": [ "myelofibrosis", "congenital", "with", "anemia", "neutropenia", "developmental", "delay", "and", "ocular", "abnormalities", "with anemia", "developmental delay", "and ocular", "ocular abnormalities", "myelofibrosis congenital", "congenital with", "anemia neutropenia", "neutropenia developmental", "delay and", "and ocular abnormalities", "congenital with anemia", "with anemia neutropenia", "neutropenia developmental delay", "developmental delay and", "delay and ocular", "myelofibrosis congenital with", "anemia neutropenia developmental", "developmental delay and ocular", "delay and ocular abnormalities" ] }, { "record_id": "MONDO:0975797", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975797", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h1k0", "q9h1k0 1", "rbns5_human", "np_001289307", "glycoprotein", "rbsn", "karevs", "mfando", "rabenosyn", "rabenosyn 5", "zfyve20" ] }, { "record_id": "MONDO:0975797", "record_type": "disease", "section": "proteins", "phraselist": [ "rabenosyn", "rabenosyn 5", "110", "kda", "protein", "110 kda", "kda protein", "110 kda protein", "fyve", "finger", "containing", "rab5", "effector", "fyve finger", "finger containing", "containing rab5", "rab5 effector", "effector protein", "protein rabenosyn", "fyve finger containing", "finger containing rab5", "containing rab5 effector", "rab5 effector protein", "effector protein rabenosyn", "protein rabenosyn 5", "fyve finger containing rab5", "finger containing rab5 effector", "containing rab5 effector protein", "rab5 effector protein rabenosyn", "effector protein rabenosyn 5", "fyve finger containing rab5 effector", "finger containing rab5 effector protein", "containing rab5 effector protein rabenosyn", "rab5 effector protein rabenosyn 5", "rab", "rbsn", "rab effector", "effector rbsn", "rab effector rbsn", "zinc", "domain", "20", "zinc finger", "finger fyve", "fyve domain", "domain containing", "containing protein", "protein 20", "zinc finger fyve", "finger fyve domain", "fyve domain containing", "domain containing protein", "containing protein 20", "zinc finger fyve domain", "finger fyve domain containing", "fyve domain containing protein", "domain containing protein 20", "zinc finger fyve domain containing", "finger fyve domain containing protein", "fyve domain containing protein 20", "containing 20", "domain containing 20", "fyve domain containing 20" ] }, { "record_id": "MONDO:0975798", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975798", "0975798", "mim:620940", "620940" ] }, { "record_id": "MONDO:0975798", "record_type": "disease", "section": "disease_name", "phraselist": [ "methylmalonic", "aciduria", "and", "homocystinuria", "cb1l", "type", "methylmalonic aciduria", "aciduria and", "and homocystinuria", "cb1l type", "methylmalonic aciduria and", "aciduria and homocystinuria", "homocystinuria cb1l", "methylmalonic aciduria and homocystinuria", "and homocystinuria cb1l", "homocystinuria cb1l type", "aciduria and homocystinuria cb1l", "and homocystinuria cb1l type", "cbll", "homocystinuria type", "type cbll", "and homocystinuria type", "homocystinuria type cbll", "aciduria and homocystinuria type", "and homocystinuria type cbll", "methylmalonic aciduria and homocystinuria type", "aciduria and homocystinuria type cbll" ] }, { "record_id": "MONDO:0975798", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975798", "record_type": "disease", "section": "proteins", "phraselist": [ "q96ek4", "q96ek4 1", "tha11_human", "np_065190", "glycoprotein", "thap11", "ctg", "b43a", "ctg b43a", "b45d", "ctg b45d", "hrihfb2206", "mahcl", "ronin", "sca51" ] }, { "record_id": "MONDO:0975798", "record_type": "disease", "section": "proteins", "phraselist": [ "thap", "domain", "containing", "protein", "11", "thap domain", "domain containing", "containing protein", "protein 11", "thap domain containing", "domain containing protein", "containing protein 11", "thap domain containing protein", "domain containing protein 11", "thap domain containing protein 11" ] }, { "record_id": "MONDO:0975799", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975799", "0975799", "mim:620943", "620943" ] }, { "record_id": "MONDO:0975799", "record_type": "disease", "section": "disease_name", "phraselist": [ "brain", "malformation", "renal", "syndrome", "brain malformation", "malformation renal", "renal syndrome", "brain malformation renal", "malformation renal syndrome", "brain malformation renal syndrome" ] }, { "record_id": "MONDO:0975799", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975799", "record_type": "disease", "section": "proteins", "phraselist": [ "q2m3d2", "q2m3d2 1", "ex3l2_human", "np_001369351", "glycoprotein", "exoc3l2", "bmrs", "xtp7" ] }, { "record_id": "MONDO:0975799", "record_type": "disease", "section": "proteins", "phraselist": [ "exocyst", "complex", "component", "like", "protein", "exocyst complex", "complex component", "component 3", "3 like", "like protein", "protein 2", "exocyst complex component", "complex component 3", "component 3 like", "3 like protein", "like protein 2", "exocyst complex component 3", "complex component 3 like", "component 3 like protein", "3 like protein 2", "exocyst complex component 3 like", "complex component 3 like protein", "component 3 like protein 2", "hbv", "transactivated", "gene", "hbv x", "x transactivated", "transactivated gene", "gene 7", "7 protein", "hbv x transactivated", "x transactivated gene", "transactivated gene 7", "gene 7 protein", "hbv x transactivated gene", "x transactivated gene 7", "transactivated gene 7 protein", "hbv x transactivated gene 7", "x transactivated gene 7 protein", "xag", "hbv xag", "xag transactivated", "transactivated protein", "protein 7", "hbv xag transactivated", "xag transactivated protein", "transactivated protein 7", "hbv xag transactivated protein", "xag transactivated protein 7", "hbv xag transactivated protein 7", "by", "hepatitis", "virus", "antigen", "hbxag", "7 transactivated", "transactivated by", "by hepatitis", "hepatitis b", "b virus", "virus x", "x antigen", "protein 7 transactivated", "7 transactivated by", "transactivated by hepatitis", "by hepatitis b", "hepatitis b virus", "b virus x", "virus x antigen", "antigen hbxag", "protein 7 transactivated by", "7 transactivated by hepatitis", "transactivated by hepatitis b", "by hepatitis b virus", "hepatitis b virus x", "b virus x antigen", "x antigen hbxag", "protein 7 transactivated by hepatitis", "7 transactivated by hepatitis b", "transactivated by hepatitis b virus", "by hepatitis b virus x", "hepatitis b virus x antigen", "virus x antigen hbxag" ] }, { "record_id": "MONDO:0975800", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975800", "0975800", "mim:620947", "620947" ] }, { "record_id": "MONDO:0975800", "record_type": "disease", "section": "disease_name", "phraselist": [ "spinocerebellar", "ataxia", "51", "spinocerebellar ataxia", "ataxia 51", "spinocerebellar ataxia 51" ] }, { "record_id": "MONDO:0975800", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975800", "record_type": "disease", "section": "proteins", "phraselist": [ "q96ek4", "q96ek4 1", "tha11_human", "np_065190", "glycoprotein", "thap11", "ctg", "b43a", "ctg b43a", "b45d", "ctg b45d", "hrihfb2206", "mahcl", "ronin", "sca51" ] }, { "record_id": "MONDO:0975800", "record_type": "disease", "section": "proteins", "phraselist": [ "thap", "domain", "containing", "protein", "11", "thap domain", "domain containing", "containing protein", "protein 11", "thap domain containing", "domain containing protein", "containing protein 11", "thap domain containing protein", "domain containing protein 11", "thap domain containing protein 11" ] }, { "record_id": "MONDO:0975801", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975801", "0975801", "mim:620950", "620950" ] }, { "record_id": "MONDO:0975801", "record_type": "disease", "section": "disease_name", "phraselist": [ "encephalopathy", "acute", "transient", "acute transient", "encephalopathy acute", "encephalopathy acute transient" ] }, { "record_id": "MONDO:0975801", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975801", "record_type": "disease", "section": "proteins", "phraselist": [ "p08183", "p08183 1", "mdr1_human", "np_000918", "glycoprotein", "abcb1", "abc20", "cd243", "clcs", "enpat", "gp170", "mdr1", "gp", "p gp", "pgy1", "170", "p 170" ] }, { "record_id": "MONDO:0975801", "record_type": "disease", "section": "proteins", "phraselist": [ "atp", "dependent", "translocase", "abcb1", "atp dependent", "dependent translocase", "translocase abcb1", "atp dependent translocase", "dependent translocase abcb1", "atp dependent translocase abcb1", "7.6.2.1", "7.6.2.2", "binding", "cassette", "sub", "family", "member", "atp binding", "binding cassette", "cassette sub", "sub family", "family b", "b member", "member 1", "atp binding cassette", "binding cassette sub", "cassette sub family", "sub family b", "family b member", "b member 1", "atp binding cassette sub", "binding cassette sub family", "cassette sub family b", "sub family b member", "family b member 1", "atp binding cassette sub family", "binding cassette sub family b", "cassette sub family b member", "sub family b member 1", "mdr/tap", "b mdr/tap", "family b mdr/tap", "mdr/tap member", "sub family b mdr/tap", "mdr/tap member 1", "isoform", "abcb1 isoform", "isoform 2", "translocase abcb1 isoform", "abcb1 isoform 2", "dependent translocase abcb1 isoform", "translocase abcb1 isoform 2", "atp dependent translocase abcb1 isoform", "dependent translocase abcb1 isoform 2", "multidrug", "resistance", "protein", "multidrug resistance", "resistance protein", "protein 1", "multidrug resistance protein", "resistance protein 1", "multidrug resistance protein 1", "glycoprotein", "p glycoprotein", "glycoprotein 1", "p glycoprotein 1", "phospholipid", "transporter", "phospholipid transporter", "transporter abcb1", "phospholipid transporter abcb1", "colchicin", "sensitivity", "colchicin sensitivity", "doxorubicin", "doxorubicin resistance" ] }, { "record_id": "MONDO:0975805", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975805", "0975805", "mim:620958", "620958" ] }, { "record_id": "MONDO:0975805", "record_type": "disease", "section": "disease_name", "phraselist": [ "foveal", "hypoplasia", "foveal hypoplasia", "hypoplasia 3", "foveal hypoplasia 3" ] }, { "record_id": "MONDO:0975805", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975805", "record_type": "disease", "section": "proteins", "phraselist": [ "p35869", "p35869 1", "ahr_human", "np_001612", "glycoprotein", "ahr", "bhlhe76", "fvh3", "rp85" ] }, { "record_id": "MONDO:0975805", "record_type": "disease", "section": "proteins", "phraselist": [ "aryl", "hydrocarbon", "receptor", "aryl hydrocarbon", "hydrocarbon receptor", "aryl hydrocarbon receptor", "ah", "ah receptor", "ahr", "class", "basic", "helix", "loop", "protein", "76", "class e", "e basic", "basic helix", "helix loop", "loop helix", "helix protein", "protein 76", "class e basic", "e basic helix", "basic helix loop", "helix loop helix", "loop helix protein", "helix protein 76", "class e basic helix", "e basic helix loop", "basic helix loop helix", "helix loop helix protein", "loop helix protein 76", "class e basic helix loop", "e basic helix loop helix", "basic helix loop helix protein", "helix loop helix protein 76", "aromatic", "aromatic hydrocarbon", "aromatic hydrocarbon receptor", "bhlhe76" ] }, { "record_id": "MONDO:0975806", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975806", "0975806", "mim:620960", "620960" ] }, { "record_id": "MONDO:0975806", "record_type": "disease", "section": "disease_name", "phraselist": [ "multiple", "mitochondrial", "dysfunctions", "syndrome", "10", "multiple mitochondrial", "mitochondrial dysfunctions", "dysfunctions syndrome", "syndrome 10", "multiple mitochondrial dysfunctions", "mitochondrial dysfunctions syndrome", "dysfunctions syndrome 10", "multiple mitochondrial dysfunctions syndrome", "mitochondrial dysfunctions syndrome 10", "multiple mitochondrial dysfunctions syndrome 10" ] }, { "record_id": "MONDO:0975807", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975807", "0975807", "mim:620962", "620962" ] }, { "record_id": "MONDO:0975807", "record_type": "disease", "section": "disease_name", "phraselist": [ "cholestasis", "progressive", "familial", "intrahepatic", "13", "progressive familial", "familial intrahepatic", "cholestasis progressive", "progressive familial intrahepatic", "intrahepatic 13", "cholestasis progressive familial", "familial intrahepatic 13", "cholestasis progressive familial intrahepatic", "progressive familial intrahepatic 13" ] }, { "record_id": "MONDO:0975807", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975807", "record_type": "disease", "section": "proteins", "phraselist": [ "p11801", "p11801 1", "kpsh1_human", "np_006733", "glycoprotein", "pskh1", "pfic13" ] }, { "record_id": "MONDO:0975807", "record_type": "disease", "section": "proteins", "phraselist": [ "serine/threonine", "protein", "kinase", "h1", "serine/threonine protein", "protein kinase", "kinase h1", "serine/threonine protein kinase", "protein kinase h1", "serine/threonine protein kinase h1", "2.7.11.1", "psk", "psk h1", "serine", "protein serine", "serine kinase", "protein serine kinase", "serine kinase h1", "protein serine kinase h1" ] }, { "record_id": "MONDO:0975809", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975809", "0975809", "mim:620968", "620968" ] }, { "record_id": "MONDO:0975809", "record_type": "disease", "section": "disease_name", "phraselist": [ "microphthalmia/coloboma", "13", "microphthalmia/coloboma 13" ] }, { "record_id": "MONDO:0975809", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975809", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h9q4", "q9h9q4 1", "nhej1_human", "np_079058", "glycoprotein", "nhej1", "imd124", "mcopcb13", "xlf" ] }, { "record_id": "MONDO:0975809", "record_type": "disease", "section": "proteins", "phraselist": [ "non", "homologous", "end", "joining", "factor", "non homologous", "homologous end", "end joining", "joining factor", "factor 1", "non homologous end", "homologous end joining", "end joining factor", "joining factor 1", "non homologous end joining", "homologous end joining factor", "end joining factor 1", "non homologous end joining factor", "homologous end joining factor 1", "protein", "cernunnos", "protein cernunnos", "xrcc4", "like", "xrcc4 like", "like factor", "xrcc4 like factor", "isoform", "1 isoform", "isoform 1", "factor 1 isoform", "1 isoform 1", "joining factor 1 isoform", "factor 1 isoform 1", "end joining factor 1 isoform", "joining factor 1 isoform 1", "nonhomologous", "nonhomologous end", "nonhomologous end joining", "nonhomologous end joining factor", "nonhomologous end joining factor 1" ] }, { "record_id": "MONDO:0975826", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975826", "0975826", "mim:301127", "301127" ] }, { "record_id": "MONDO:0975826", "record_type": "disease", "section": "disease_name", "phraselist": [ "arthrogryposis", "multiplex", "congenita", "linked", "arthrogryposis multiplex", "multiplex congenita", "congenita 7", "x linked", "arthrogryposis multiplex congenita", "multiplex congenita 7", "7 x", "arthrogryposis multiplex congenita 7", "congenita 7 x", "7 x linked", "multiplex congenita 7 x", "congenita 7 x linked" ] }, { "record_id": "MONDO:0975826", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975826", "record_type": "disease", "section": "proteins", "phraselist": [ "q8ni27", "q8ni27 1", "thoc2_human", "np_001075019", "glycoprotein", "thoc2", "amc7", "cxorf3", "mrx12", "mrx35", "tho2", "xlid12", "dj506g2.1", "htrex120" ] }, { "record_id": "MONDO:0975826", "record_type": "disease", "section": "proteins", "phraselist": [ "tho", "complex", "subunit", "tho complex", "complex subunit", "subunit 2", "tho complex subunit", "complex subunit 2", "tho complex subunit 2", "complex 2", "tho complex 2", "isoform", "2 isoform", "isoform 1", "subunit 2 isoform", "2 isoform 1", "complex subunit 2 isoform", "subunit 2 isoform 1", "tho complex subunit 2 isoform", "complex subunit 2 isoform 1", "tho2", "htrex120" ] }, { "record_id": "MONDO:0975827", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975827", "0975827", "mim:301132", "301132" ] }, { "record_id": "MONDO:0975827", "record_type": "disease", "section": "disease_name", "phraselist": [ "orofaciodigital", "syndrome", "21", "orofaciodigital syndrome", "syndrome 21", "orofaciodigital syndrome 21" ] }, { "record_id": "MONDO:0975827", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975827", "record_type": "disease", "section": "proteins", "phraselist": [ "q15696", "q15696 1", "u2afm_human", "np_005080", "glycoprotein", "zrsr2", "ofd21", "u2af1", "rs2", "u2af1 rs2", "u2af1l2", "u2af1rs2", "urp", "zc3h22" ] }, { "record_id": "MONDO:0975827", "record_type": "disease", "section": "proteins", "phraselist": [ "u2", "small", "nuclear", "ribonucleoprotein", "auxiliary", "factor", "35", "kda", "subunit", "related", "protein", "u2 small", "small nuclear", "nuclear ribonucleoprotein", "ribonucleoprotein auxiliary", "auxiliary factor", "factor 35", "35 kda", "kda subunit", "subunit related", "related protein", "protein 2", "u2 small nuclear", "small nuclear ribonucleoprotein", "nuclear ribonucleoprotein auxiliary", "ribonucleoprotein auxiliary factor", "auxiliary factor 35", "factor 35 kda", "35 kda subunit", "kda subunit related", "subunit related protein", "related protein 2", "u2 small nuclear ribonucleoprotein", "small nuclear ribonucleoprotein auxiliary", "nuclear ribonucleoprotein auxiliary factor", "ribonucleoprotein auxiliary factor 35", "auxiliary factor 35 kda", "factor 35 kda subunit", "35 kda subunit related", "kda subunit related protein", "subunit related protein 2", "u2 small nuclear ribonucleoprotein auxiliary", "small nuclear ribonucleoprotein auxiliary factor", "nuclear ribonucleoprotein auxiliary factor 35", "ribonucleoprotein auxiliary factor 35 kda", "auxiliary factor 35 kda subunit", "factor 35 kda subunit related", "35 kda subunit related protein", "kda subunit related protein 2", "ccch", "type", "zinc", "finger", "rna", "binding", "motif", "and", "serine/arginine", "rich", "ccch type", "type zinc", "zinc finger", "rna binding", "binding motif", "motif and", "and serine/arginine", "serine/arginine rich", "rich protein", "ccch type zinc", "type zinc finger", "finger rna", "rna binding motif", "binding motif and", "motif and serine/arginine", "and serine/arginine rich", "serine/arginine rich protein", "rich protein 2", "ccch type zinc finger", "zinc finger rna", "finger rna binding", "rna binding motif and", "binding motif and serine/arginine", "motif and serine/arginine rich", "and serine/arginine rich protein", "serine/arginine rich protein 2", "type zinc finger rna", "zinc finger rna binding", "finger rna binding motif", "rna binding motif and serine/arginine", "binding motif and serine/arginine rich", "motif and serine/arginine rich protein", "and serine/arginine rich protein 2", "renal", "carcinoma", "antigen", "ny", "ren", "20", "renal carcinoma", "carcinoma antigen", "antigen ny", "ny ren", "ren 20", "renal carcinoma antigen", "carcinoma antigen ny", "antigen ny ren", "ny ren 20", "renal carcinoma antigen ny", "carcinoma antigen ny ren", "antigen ny ren 20", "renal carcinoma antigen ny ren", "carcinoma antigen ny ren 20", "small subunit", "subunit 2", "factor small", "small subunit 2", "auxiliary factor small", "factor small subunit", "ribonucleoprotein auxiliary factor small", "auxiliary factor small subunit", "factor small subunit 2", "rnu2", "like", "u2 rnu2", "nuclear rna", "rna auxiliary", "factor 1", "1 like", "like 2", "rnu2 small", "small nuclear rna", "nuclear rna auxiliary", "rna auxiliary factor", "auxiliary factor 1", "factor 1 like", "1 like 2", "u2 rnu2 small", "rnu2 small nuclear", "small nuclear rna auxiliary", "nuclear rna auxiliary factor", "rna auxiliary factor 1", "auxiliary factor 1 like", "factor 1 like 2", "u2 rnu2 small nuclear", "rnu2 small nuclear rna", "small nuclear rna auxiliary factor", "nuclear rna auxiliary factor 1", "rna auxiliary factor 1 like", "auxiliary factor 1 like 2", "u2af35", "u2af35 related", "u2af35 related protein", "urp", "rich 2", "finger ccch", "serine/arginine rich 2", "zinc finger ccch", "finger ccch type", "type rna", "and serine/arginine rich 2", "zinc finger ccch type", "ccch type rna", "type rna binding", "motif and serine/arginine rich 2" ] }, { "record_id": "MONDO:0975828", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975828", "0975828", "mim:301134", "301134" ] }, { "record_id": "MONDO:0975828", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "linked", "114", "intellectual developmental", "developmental disorder", "x linked", "linked 114", "intellectual developmental disorder", "disorder x", "x linked 114", "developmental disorder x", "disorder x linked", "intellectual developmental disorder x", "developmental disorder x linked", "disorder x linked 114" ] }, { "record_id": "MONDO:0975828", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975828", "record_type": "disease", "section": "proteins", "phraselist": [ "q9upe1", "q9upe1 1", "srpk3_human", "np_001164231", "srpk3", "mssk", "mssk 1", "mssk1", "stk23", "xlid114" ] }, { "record_id": "MONDO:0975828", "record_type": "disease", "section": "proteins", "phraselist": [ "srsf", "protein", "kinase", "srsf protein", "protein kinase", "kinase 3", "srsf protein kinase", "protein kinase 3", "srsf protein kinase 3", "2.7.11.1", "mssk", "mssk 1", "muscle", "specific", "serine", "muscle specific", "specific serine", "serine kinase", "kinase 1", "muscle specific serine", "specific serine kinase", "serine kinase 1", "muscle specific serine kinase", "specific serine kinase 1", "muscle specific serine kinase 1", "sfrs", "sfrs protein", "sfrs protein kinase", "sfrs protein kinase 3", "sr", "sr protein", "protein specific", "specific kinase", "sr protein specific", "protein specific kinase", "specific kinase 3", "sr protein specific kinase", "protein specific kinase 3", "sr protein specific kinase 3", "isoform", "3 isoform", "isoform 2", "kinase 3 isoform", "3 isoform 2", "protein kinase 3 isoform", "kinase 3 isoform 2", "srsf protein kinase 3 isoform", "protein kinase 3 isoform 2", "serine/arginine", "rich", "serine/arginine rich", "rich protein", "serine/arginine rich protein", "rich protein specific", "serine/arginine rich protein specific", "rich protein specific kinase", "serine/arginine rich protein specific kinase", "rich protein specific kinase 3", "serine/threonine", "23", "serine/threonine protein", "kinase 23", "serine/threonine protein kinase", "protein kinase 23", "serine/threonine protein kinase 23", "arginine", "serine arginine", "arginine rich", "serine arginine rich", "arginine rich protein", "serine arginine rich protein", "arginine rich protein specific", "serine arginine rich protein specific", "arginine rich protein specific kinase", "serine/threonine kinase", "serine/threonine kinase 23", "srpk3", "kinase srpk3", "protein kinase srpk3", "serine/threonine protein kinase srpk3" ] }, { "record_id": "MONDO:0975833", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975833", "0975833", "mim:620978", "620978" ] }, { "record_id": "MONDO:0975833", "record_type": "disease", "section": "disease_name", "phraselist": [ "leukodystrophy", "hypomyelinating", "28", "leukodystrophy hypomyelinating", "hypomyelinating 28", "leukodystrophy hypomyelinating 28" ] }, { "record_id": "MONDO:0975833", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975833", "record_type": "disease", "section": "proteins", "phraselist": [ "p21145", "p21145 1", "mal_human", "np_002362", "mal", "hld28", "mvp17", "vip17" ] }, { "record_id": "MONDO:0975833", "record_type": "disease", "section": "proteins", "phraselist": [ "myelin", "and", "lymphocyte", "protein", "myelin and", "and lymphocyte", "lymphocyte protein", "myelin and lymphocyte", "and lymphocyte protein", "myelin and lymphocyte protein", "maturation", "associated", "t lymphocyte", "lymphocyte maturation", "maturation associated", "associated protein", "t lymphocyte maturation", "lymphocyte maturation associated", "maturation associated protein", "t lymphocyte maturation associated", "lymphocyte maturation associated protein", "t lymphocyte maturation associated protein", "mal", "cell", "differentiation", "t cell", "cell differentiation", "differentiation protein", "mal t", "t cell differentiation", "cell differentiation protein", "mal t cell", "t cell differentiation protein", "mal t cell differentiation", "isoform", "protein isoform", "isoform a", "lymphocyte protein isoform", "protein isoform a", "and lymphocyte protein isoform", "lymphocyte protein isoform a", "myelin and lymphocyte protein isoform", "and lymphocyte protein isoform a" ] }, { "record_id": "MONDO:0975835", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975835", "0975835", "mim:620984", "620984" ] }, { "record_id": "MONDO:0975835", "record_type": "disease", "section": "disease_name", "phraselist": [ "bronchiectasis", "and", "nasal", "polyposis", "bronchiectasis and", "and nasal", "nasal polyposis", "bronchiectasis and nasal", "and nasal polyposis", "bronchiectasis and nasal polyposis" ] }, { "record_id": "MONDO:0975835", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975835", "record_type": "disease", "section": "proteins", "phraselist": [ "q14508", "q14508 1", "wfdc2_human", "np_006094", "glycoprotein", "wfdc2", "benp", "eddm4", "he4", "wap5", "dj461p17.6" ] }, { "record_id": "MONDO:0975835", "record_type": "disease", "section": "proteins", "phraselist": [ "wap", "four", "disulfide", "core", "domain", "protein", "wap four", "four disulfide", "disulfide core", "core domain", "domain protein", "protein 2", "wap four disulfide", "four disulfide core", "disulfide core domain", "core domain protein", "domain protein 2", "wap four disulfide core", "four disulfide core domain", "disulfide core domain protein", "core domain protein 2", "wap four disulfide core domain", "four disulfide core domain protein", "disulfide core domain protein 2", "epididymal", "secretory", "e4", "epididymal secretory", "secretory protein", "protein e4", "epididymal secretory protein", "secretory protein e4", "epididymal secretory protein e4", "major", "epididymis", "specific", "major epididymis", "epididymis specific", "specific protein", "major epididymis specific", "epididymis specific protein", "specific protein e4", "major epididymis specific protein", "epididymis specific protein e4", "major epididymis specific protein e4", "putative", "protease", "inhibitor", "wap5", "putative protease", "protease inhibitor", "inhibitor wap5", "putative protease inhibitor", "protease inhibitor wap5", "putative protease inhibitor wap5", "containing", "he4", "v4", "wap domain", "domain containing", "containing protein", "protein he4", "he4 v4", "wap domain containing", "domain containing protein", "containing protein he4", "protein he4 v4", "wap domain containing protein", "domain containing protein he4", "containing protein he4 v4", "wap domain containing protein he4", "domain containing protein he4 v4", "precursor", "2 precursor", "protein 2 precursor", "domain protein 2 precursor", "core domain protein 2 precursor", "epididymal protein", "protein 4", "epididymal protein 4", "sperm", "binding", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "whey", "acidic", "type", "whey acidic", "acidic protein", "protein type", "specific whey", "whey acidic protein", "acidic protein type", "type four", "epididymis specific whey", "specific whey acidic", "whey acidic protein type", "protein type four", "type four disulfide", "epididymis specific whey acidic", "specific whey acidic protein", "acidic protein type four", "protein type four disulfide", "type four disulfide core", "human", "human epididymis", "epididymis protein", "human epididymis protein", "epididymis protein 4", "human epididymis protein 4" ] }, { "record_id": "MONDO:0975836", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975836", "0975836", "mim:620985", "620985" ] }, { "record_id": "MONDO:0975836", "record_type": "disease", "section": "disease_name", "phraselist": [ "karayol", "borroto", "haghshenas", "neurodevelopmental", "syndrome", "karayol borroto", "borroto haghshenas", "haghshenas neurodevelopmental", "neurodevelopmental syndrome", "karayol borroto haghshenas", "borroto haghshenas neurodevelopmental", "haghshenas neurodevelopmental syndrome", "karayol borroto haghshenas neurodevelopmental", "borroto haghshenas neurodevelopmental syndrome", "karayol borroto haghshenas neurodevelopmental syndrome" ] }, { "record_id": "MONDO:0975836", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975836", "record_type": "disease", "section": "proteins", "phraselist": [ "q9hci7", "q9hci7 1", "msl2_human", "np_001138889", "msl2", "kbhs", "kiaa1585", "msl", "msl 2", "msl2l1", "rnf184" ] }, { "record_id": "MONDO:0975836", "record_type": "disease", "section": "proteins", "phraselist": [ "e3", "ubiquitin", "protein", "ligase", "msl2", "e3 ubiquitin", "ubiquitin protein", "protein ligase", "ligase msl2", "e3 ubiquitin protein", "ubiquitin protein ligase", "protein ligase msl2", "e3 ubiquitin protein ligase", "ubiquitin protein ligase msl2", "e3 ubiquitin protein ligase msl2", "2.3.2.27", "isoform", "msl2 isoform", "isoform 2", "ligase msl2 isoform", "msl2 isoform 2", "protein ligase msl2 isoform", "ligase msl2 isoform 2", "ubiquitin protein ligase msl2 isoform", "protein ligase msl2 isoform 2", "transferase", "protein transferase", "transferase msl2", "ubiquitin protein transferase", "protein transferase msl2", "e3 ubiquitin protein transferase", "ubiquitin protein transferase msl2", "e3 ubiquitin protein transferase msl2", "msl", "msl 2", "like", "msl2 like", "like 1", "msl2 like 1", "male", "specific", "lethal", "male specific", "specific lethal", "lethal 2", "2 like", "male specific lethal", "specific lethal 2", "lethal 2 like", "2 like 1", "male specific lethal 2", "specific lethal 2 like", "lethal 2 like 1", "male specific lethal 2 like", "specific lethal 2 like 1", "homolog", "2 homolog", "homolog 1", "lethal 2 homolog", "2 homolog 1", "specific lethal 2 homolog", "lethal 2 homolog 1", "male specific lethal 2 homolog", "specific lethal 2 homolog 1", "ring", "finger", "184", "ring finger", "finger protein", "protein 184", "ring finger protein", "finger protein 184", "ring finger protein 184" ] }, { "record_id": "MONDO:0975837", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975837", "0975837", "mim:620987", "620987" ] }, { "record_id": "MONDO:0975837", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodegeneration", "infantile", "onset", "with", "optic", "atrophy", "and", "brain", "abnormalities", "infantile onset", "with optic", "optic atrophy", "atrophy and", "and brain", "brain abnormalities", "neurodegeneration infantile", "onset with", "with optic atrophy", "optic atrophy and", "atrophy and brain", "and brain abnormalities", "neurodegeneration infantile onset", "infantile onset with", "onset with optic", "with optic atrophy and", "optic atrophy and brain", "atrophy and brain abnormalities", "infantile onset with optic", "onset with optic atrophy", "with optic atrophy and brain", "optic atrophy and brain abnormalities" ] }, { "record_id": "MONDO:0975837", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975837", "record_type": "disease", "section": "proteins", "phraselist": [ "q96fh0", "q96fh0 1", "borc8_human", "np_001139255", "borcs8", "mef2bnb", "ndoaba" ] }, { "record_id": "MONDO:0975837", "record_type": "disease", "section": "proteins", "phraselist": [ "bloc", "related", "complex", "subunit", "bloc 1", "1 related", "related complex", "complex subunit", "subunit 8", "bloc 1 related", "1 related complex", "related complex subunit", "complex subunit 8", "bloc 1 related complex", "1 related complex subunit", "related complex subunit 8", "bloc 1 related complex subunit", "1 related complex subunit 8", "isoform", "8 isoform", "isoform 2", "subunit 8 isoform", "8 isoform 2", "complex subunit 8 isoform", "subunit 8 isoform 2", "related complex subunit 8 isoform", "complex subunit 8 isoform 2", "mef2b", "neighbor", "gene", "protein", "mef2b neighbor", "neighbor gene", "gene protein", "mef2b neighbor gene", "neighbor gene protein", "mef2b neighbor gene protein", "mef2bnb", "protein mef2bnb" ] }, { "record_id": "MONDO:0975841", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975841", "0975841", "mim:620999", "620999" ] }, { "record_id": "MONDO:0975841", "record_type": "disease", "section": "disease_name", "phraselist": [ "fibromatosis", "gingival", "fibromatosis gingival", "gingival 6", "fibromatosis gingival 6" ] }, { "record_id": "MONDO:0975841", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975841", "record_type": "disease", "section": "proteins", "phraselist": [ "o60290", "o60290 1", "zn862_human", "np_001092690", "glycoprotein", "znf862", "gingf6", "kiaa0543" ] }, { "record_id": "MONDO:0975841", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "protein", "862", "zinc finger", "finger protein", "protein 862", "zinc finger protein", "finger protein 862", "zinc finger protein 862" ] }, { "record_id": "MONDO:0975842", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975842", "0975842", "mim:621001", "621001" ] }, { "record_id": "MONDO:0975842", "record_type": "disease", "section": "disease_name", "phraselist": [ "spermatogenic", "failure", "96", "spermatogenic failure", "failure 96", "spermatogenic failure 96" ] }, { "record_id": "MONDO:0975843", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975843", "0975843", "mim:621002", "621002" ] }, { "record_id": "MONDO:0975843", "record_type": "disease", "section": "disease_name", "phraselist": [ "premature", "ovarian", "failure", "25", "premature ovarian", "ovarian failure", "failure 25", "premature ovarian failure", "ovarian failure 25", "premature ovarian failure 25" ] }, { "record_id": "MONDO:0975843", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975843", "record_type": "disease", "section": "proteins", "phraselist": [ "q8nhs9", "q8nhs9 1", "spt22_human", "np_001308265", "glycoprotein", "spata22", "nyd", "sp20", "nyd sp20", "nydsp20", "pof25", "spgf96" ] }, { "record_id": "MONDO:0975843", "record_type": "disease", "section": "proteins", "phraselist": [ "spermatogenesis", "associated", "protein", "22", "spermatogenesis associated", "associated protein", "protein 22", "spermatogenesis associated protein", "associated protein 22", "spermatogenesis associated protein 22", "testis", "development", "nyd", "sp20", "testis development", "development protein", "protein nyd", "nyd sp20", "testis development protein", "development protein nyd", "protein nyd sp20", "testis development protein nyd", "development protein nyd sp20", "testis development protein nyd sp20", "isoform", "22 isoform", "isoform 4", "protein 22 isoform", "22 isoform 4", "associated protein 22 isoform", "protein 22 isoform 4", "spermatogenesis associated protein 22 isoform", "associated protein 22 isoform 4", "testicular", "tissue", "li", "186", "testicular tissue", "tissue protein", "protein li", "li 186", "testicular tissue protein", "tissue protein li", "protein li 186", "testicular tissue protein li", "tissue protein li 186", "testicular tissue protein li 186" ] }, { "record_id": "MONDO:0975846", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975846", "0975846", "mim:301133", "301133" ] }, { "record_id": "MONDO:0975846", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "disorder", "of", "glycosylation", "type", "1dd", "congenital disorder", "disorder of", "of glycosylation", "type 1dd", "congenital disorder of", "disorder of glycosylation", "glycosylation type", "congenital disorder of glycosylation", "of glycosylation type", "glycosylation type 1dd", "disorder of glycosylation type", "of glycosylation type 1dd", "glycosylation 1dd", "of glycosylation 1dd", "disorder of glycosylation 1dd", "congenital disorder of glycosylation 1dd" ] }, { "record_id": "MONDO:0975846", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975846", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n5i4", "q8n5i4 1", "dhrsx_human", "np_660160", "glycoprotein", "dhrsx", "cdg1dd", "cxorf11", "dhrs5x", "dhrs5y", "dhrsxy", "dhrsy", "pro21433", "sdr46c1", "sdr7c6" ] }, { "record_id": "MONDO:0975846", "record_type": "disease", "section": "proteins", "phraselist": [ "polyprenol", "dehydrogenase", "polyprenol dehydrogenase", "1.1.1.441", "dhrsxy", "dehydrogenase/reductase", "sdr", "family", "member", "on", "chromosome", "dehydrogenase/reductase sdr", "sdr family", "family member", "member on", "on chromosome", "chromosome x", "dehydrogenase/reductase sdr family", "sdr family member", "family member on", "member on chromosome", "on chromosome x", "dehydrogenase/reductase sdr family member", "sdr family member on", "family member on chromosome", "member on chromosome x", "dehydrogenase/reductase sdr family member on", "sdr family member on chromosome", "family member on chromosome x", "dolichal", "reductase", "dolichal reductase", "x chromosome", "family x", "sdr family x", "family x chromosome", "sdr family x chromosome", "linked", "x linked", "family x linked", "sdr family x linked", "y linked", "family y", "sdr family y", "family y linked", "sdr family y linked", "short", "chain", "46c", "short chain", "chain dehydrogenase/reductase", "dehydrogenase/reductase family", "family 46c", "46c member", "member 1", "short chain dehydrogenase/reductase", "chain dehydrogenase/reductase family", "dehydrogenase/reductase family 46c", "family 46c member", "46c member 1", "short chain dehydrogenase/reductase family", "chain dehydrogenase/reductase family 46c", "dehydrogenase/reductase family 46c member", "family 46c member 1", "short chain dehydrogenase/reductase family 46c", "chain dehydrogenase/reductase family 46c member", "dehydrogenase/reductase family 46c member 1", "7c", "family 7c", "7c member", "member 6", "dehydrogenase/reductase family 7c", "family 7c member", "7c member 6", "chain dehydrogenase/reductase family 7c", "dehydrogenase/reductase family 7c member", "family 7c member 6", "short chain dehydrogenase/reductase family 7c", "chain dehydrogenase/reductase family 7c member", "dehydrogenase/reductase family 7c member 6" ] }, { "record_id": "MONDO:0975848", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975848", "0975848", "mim:621010", "621010" ] }, { "record_id": "MONDO:0975848", "record_type": "disease", "section": "disease_name", "phraselist": [ "morimoto", "ryu", "malicdan", "neuromuscular", "syndrome", "morimoto ryu", "ryu malicdan", "malicdan neuromuscular", "neuromuscular syndrome", "morimoto ryu malicdan", "ryu malicdan neuromuscular", "malicdan neuromuscular syndrome", "morimoto ryu malicdan neuromuscular", "ryu malicdan neuromuscular syndrome", "morimoto ryu malicdan neuromuscular syndrome" ] }, { "record_id": "MONDO:0975848", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975848", "record_type": "disease", "section": "proteins", "phraselist": [ "p35249", "p35249 1", "rfc4_human", "np_002907", "glycoprotein", "rfc4", "a1", "mrmns", "rfc37" ] }, { "record_id": "MONDO:0975848", "record_type": "disease", "section": "proteins", "phraselist": [ "replication", "factor", "subunit", "replication factor", "factor c", "c subunit", "subunit 4", "replication factor c", "factor c subunit", "c subunit 4", "replication factor c subunit", "factor c subunit 4", "replication factor c subunit 4", "a1", "37", "kda", "a1 37", "37 kda", "kda subunit", "a1 37 kda", "37 kda subunit", "a1 37 kda subunit", "activator", "activator 1", "1 37", "activator 1 37", "1 37 kda", "activator 1 37 kda", "1 37 kda subunit", "activator 1 37 kda subunit", "1 subunit", "activator 1 subunit", "1 subunit 4", "activator 1 subunit 4", "rf", "rf c", "c 37", "rf c 37", "c 37 kda", "rf c 37 kda", "c 37 kda subunit", "rf c 37 kda subunit", "rfc", "rfc 37", "rfc 37 kda", "rfc 37 kda subunit", "rfc37", "factor c 37", "replication factor c 37", "factor c 37 kda", "replication factor c 37 kda", "factor c 37 kda subunit", "37kda", "c activator", "1 4", "4 37kda", "factor c activator", "c activator 1", "activator 1 4", "replication factor c activator", "factor c activator 1", "1 4 37kda" ] }, { "record_id": "MONDO:0975875", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975875", "0975875", "mim:621018", "621018" ] }, { "record_id": "MONDO:0975875", "record_type": "disease", "section": "disease_name", "phraselist": [ "basal", "ganglia", "calcification", "idiopathic", "10", "autosomal", "recessive", "basal ganglia", "ganglia calcification", "autosomal recessive", "basal ganglia calcification", "calcification idiopathic", "idiopathic 10", "10 autosomal", "ganglia calcification idiopathic", "10 autosomal recessive", "basal ganglia calcification idiopathic", "calcification idiopathic 10", "idiopathic 10 autosomal" ] }, { "record_id": "MONDO:0975875", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975875", "record_type": "disease", "section": "proteins", "phraselist": [ "q5ebm0", "q5ebm0 1", "cmpk2_human", "np_001243406", "cmpk2", "ibgc10", "ndk", "tmpk2", "tyki", "ump", "ump cmpk2" ] }, { "record_id": "MONDO:0975875", "record_type": "disease", "section": "proteins", "phraselist": [ "ump", "cmp", "kinase", "mitochondrial", "ump cmp", "cmp kinase", "kinase 2", "ump cmp kinase", "cmp kinase 2", "2 mitochondrial", "ump cmp kinase 2", "kinase 2 mitochondrial", "cmp kinase 2 mitochondrial", "2.7.4.14", "2.7.4.6", "nucleoside", "diphosphate", "nucleoside diphosphate", "diphosphate kinase", "nucleoside diphosphate kinase", "isoform", "precursor", "mitochondrial isoform", "isoform 2", "2 precursor", "mitochondrial isoform 2", "isoform 2 precursor", "2 mitochondrial isoform", "mitochondrial isoform 2 precursor", "kinase 2 mitochondrial isoform", "2 mitochondrial isoform 2", "ump/cmp", "ump/cmp kinase", "cytidine", "monophosphate", "cytidine monophosphate", "monophosphate ump", "cytidine monophosphate ump", "monophosphate ump cmp", "cytidine monophosphate ump cmp", "cytidylate", "cytidylate kinase", "cytidylate kinase 2", "mitochondrial ump", "mitochondrial ump cmp", "mitochondrial ump cmp kinase", "thymidine", "thymidine monophosphate", "monophosphate kinase", "thymidine monophosphate kinase", "monophosphate kinase 2", "thymidine monophosphate kinase 2", "thymidylate", "family", "lps", "inducible", "member", "thymidylate kinase", "kinase family", "family lps", "lps inducible", "inducible member", "thymidylate kinase family", "kinase family lps", "family lps inducible", "lps inducible member", "thymidylate kinase family lps", "kinase family lps inducible", "family lps inducible member", "thymidylate kinase family lps inducible", "kinase family lps inducible member" ] }, { "record_id": "MONDO:0975877", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975877", "0975877", "mim:621016", "621016" ] }, { "record_id": "MONDO:0975877", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "variable", "familial", "hypercholanemia", "neurodevelopmental disorder", "disorder with", "with variable", "variable familial", "familial hypercholanemia", "neurodevelopmental disorder with", "disorder with variable", "with variable familial", "variable familial hypercholanemia", "neurodevelopmental disorder with variable", "disorder with variable familial", "with variable familial hypercholanemia", "neurodevelopmental disorder with variable familial", "disorder with variable familial hypercholanemia" ] }, { "record_id": "MONDO:0975877", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975877", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y284", "q9y284 1", "aster_human", "np_057229", "glycoprotein", "wdr83os", "asterix", "c19orf56", "cgi", "140", "cgi 140", "my006", "nedfhca", "pat", "10", "pat 10", "pat10", "ptd008" ] }, { "record_id": "MONDO:0975877", "record_type": "disease", "section": "proteins", "phraselist": [ "pat", "complex", "subunit", "asterix", "pat complex", "complex subunit", "subunit asterix", "pat complex subunit", "complex subunit asterix", "pat complex subunit asterix", "10", "pat 10", "pat10", "protein", "associated", "with", "the", "er", "translocon", "of", "10kda", "protein associated", "associated with", "with the", "the er", "er translocon", "translocon of", "of 10kda", "protein associated with", "associated with the", "with the er", "the er translocon", "er translocon of", "translocon of 10kda", "protein associated with the", "associated with the er", "with the er translocon", "the er translocon of", "er translocon of 10kda", "protein associated with the er", "associated with the er translocon", "with the er translocon of", "the er translocon of 10kda", "upf0139", "membrane", "c19orf56", "upf0139 membrane", "membrane protein", "protein c19orf56", "upf0139 membrane protein", "membrane protein c19orf56", "upf0139 membrane protein c19orf56", "wd", "repeat", "domain", "83", "opposite", "strand", "wd repeat", "repeat domain", "domain 83", "83 opposite", "opposite strand", "wd repeat domain", "repeat domain 83", "domain 83 opposite", "83 opposite strand", "wd repeat domain 83", "repeat domain 83 opposite", "domain 83 opposite strand", "wd repeat domain 83 opposite", "repeat domain 83 opposite strand", "wdr83", "wdr83 opposite", "wdr83 opposite strand", "protein asterix" ] }, { "record_id": "MONDO:0975952", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975952", "0975952", "mim:621032", "621032" ] }, { "record_id": "MONDO:0975952", "record_type": "disease", "section": "disease_name", "phraselist": [ "cerebral", "cavernous", "malformations", "cerebral cavernous", "cavernous malformations", "malformations 5", "cerebral cavernous malformations", "cavernous malformations 5", "cerebral cavernous malformations 5" ] }, { "record_id": "MONDO:0975952", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975952", "record_type": "disease", "section": "proteins", "phraselist": [ "q99759", "q99759 1", "m3k3_human", "np_002392", "map3k3", "ccm5", "mapkkk3", "mekk3" ] }, { "record_id": "MONDO:0975952", "record_type": "disease", "section": "proteins", "phraselist": [ "mitogen", "activated", "protein", "kinase", "mitogen activated", "activated protein", "protein kinase", "kinase kinase", "kinase 3", "mitogen activated protein", "activated protein kinase", "protein kinase kinase", "kinase kinase kinase", "kinase kinase 3", "mitogen activated protein kinase", "activated protein kinase kinase", "protein kinase kinase kinase", "kinase kinase kinase 3", "mitogen activated protein kinase kinase", "activated protein kinase kinase kinase", "protein kinase kinase kinase 3", "2.7.11.25", "map/erk", "map/erk kinase", "map/erk kinase kinase", "map/erk kinase kinase 3", "mapk/erk", "mapk/erk kinase", "mapk/erk kinase kinase", "mapk/erk kinase kinase 3", "mek", "mek kinase", "mek kinase 3", "mekk", "mekk 3", "isoform", "3 isoform", "isoform 2", "kinase 3 isoform", "3 isoform 2", "kinase kinase 3 isoform", "kinase 3 isoform 2", "kinase kinase kinase 3 isoform", "kinase kinase 3 isoform 2" ] }, { "record_id": "MONDO:0975957", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975957", "0975957", "mim:621056", "621056" ] }, { "record_id": "MONDO:0975957", "record_type": "disease", "section": "disease_name", "phraselist": [ "telangiectasia", "impaired", "intellectual", "development", "microcephaly", "metaphyseal", "dysplasia", "eye", "abnormalities", "and", "short", "stature", "impaired intellectual", "intellectual development", "metaphyseal dysplasia", "eye abnormalities", "and short", "short stature", "telangiectasia impaired", "impaired intellectual development", "development microcephaly", "microcephaly metaphyseal", "dysplasia eye", "abnormalities and", "and short stature", "telangiectasia impaired intellectual", "intellectual development microcephaly", "microcephaly metaphyseal dysplasia", "metaphyseal dysplasia eye", "dysplasia eye abnormalities", "eye abnormalities and", "abnormalities and short", "telangiectasia impaired intellectual development", "impaired intellectual development microcephaly", "development microcephaly metaphyseal", "metaphyseal dysplasia eye abnormalities", "eye abnormalities and short", "abnormalities and short stature" ] }, { "record_id": "MONDO:0975957", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0975957", "record_type": "disease", "section": "proteins", "phraselist": [ "q8tdw0", "q8tdw0 1", "lrc8c_human", "xp_011540584", "glycoprotein", "lrrc8c", "ad158", "fad158", "times" ] }, { "record_id": "MONDO:0975957", "record_type": "disease", "section": "proteins", "phraselist": [ "volume", "regulated", "anion", "channel", "subunit", "lrrc8c", "volume regulated", "regulated anion", "anion channel", "channel subunit", "subunit lrrc8c", "volume regulated anion", "regulated anion channel", "anion channel subunit", "channel subunit lrrc8c", "volume regulated anion channel", "regulated anion channel subunit", "anion channel subunit lrrc8c", "volume regulated anion channel subunit", "regulated anion channel subunit lrrc8c", "factor", "for", "adipocyte", "differentiation", "158", "factor for", "for adipocyte", "adipocyte differentiation", "differentiation 158", "factor for adipocyte", "for adipocyte differentiation", "adipocyte differentiation 158", "factor for adipocyte differentiation", "for adipocyte differentiation 158", "factor for adipocyte differentiation 158", "leucine", "rich", "repeat", "containing", "protein", "8c", "leucine rich", "rich repeat", "repeat containing", "containing protein", "protein 8c", "leucine rich repeat", "rich repeat containing", "repeat containing protein", "containing protein 8c", "leucine rich repeat containing", "rich repeat containing protein", "repeat containing protein 8c", "leucine rich repeat containing protein", "rich repeat containing protein 8c", "isoform", "x2", "lrrc8c isoform", "isoform x2", "subunit lrrc8c isoform", "lrrc8c isoform x2", "channel subunit lrrc8c isoform", "subunit lrrc8c isoform x2", "anion channel subunit lrrc8c isoform", "channel subunit lrrc8c isoform x2" ] }, { "record_id": "MONDO:0975958", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0975958", "0975958", "mim:621057", "621057" ] }, { "record_id": "MONDO:0975958", "record_type": "disease", "section": "disease_name", "phraselist": [ "spermatogenic", "failure", "97", "spermatogenic failure", "failure 97", "spermatogenic failure 97" ] }, { "record_id": "MONDO:0976124", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976124", "0976124", "mim:621021", "621021" ] }, { "record_id": "MONDO:0976124", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "with", "polymicrogyria", "and", "seizures", "intellectual developmental", "developmental disorder", "disorder with", "with polymicrogyria", "polymicrogyria and", "and seizures", "intellectual developmental disorder", "developmental disorder with", "disorder with polymicrogyria", "with polymicrogyria and", "polymicrogyria and seizures", "intellectual developmental disorder with", "developmental disorder with polymicrogyria", "disorder with polymicrogyria and", "with polymicrogyria and seizures", "intellectual developmental disorder with polymicrogyria", "developmental disorder with polymicrogyria and", "disorder with polymicrogyria and seizures" ] }, { "record_id": "MONDO:0976124", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976124", "record_type": "disease", "section": "proteins", "phraselist": [ "p17987", "p17987 1", "tcpa_human", "np_110379", "glycoprotein", "tcp1", "cct", "alpha", "cct alpha", "cct1", "ccta", "d6s230e", "iddpmgs", "tcp", "tcp 1", "1 alpha", "tcp 1 alpha" ] }, { "record_id": "MONDO:0976124", "record_type": "disease", "section": "proteins", "phraselist": [ "complex", "protein", "subunit", "alpha", "t complex", "complex protein", "protein 1", "1 subunit", "subunit alpha", "t complex protein", "complex protein 1", "protein 1 subunit", "1 subunit alpha", "t complex protein 1", "complex protein 1 subunit", "protein 1 subunit alpha", "t complex protein 1 subunit", "complex protein 1 subunit alpha", "3.6.1.", "cct", "cct alpha", "chaperonin", "containing", "polypeptide", "chaperonin containing", "containing t", "complex polypeptide", "polypeptide 1", "subunit 1", "chaperonin containing t", "containing t complex", "t complex polypeptide", "complex polypeptide 1", "polypeptide 1 subunit", "1 subunit 1", "chaperonin containing t complex", "containing t complex polypeptide", "t complex polypeptide 1", "complex polypeptide 1 subunit", "polypeptide 1 subunit 1", "chaperonin containing t complex polypeptide", "containing t complex polypeptide 1", "t complex polypeptide 1 subunit", "complex polypeptide 1 subunit 1", "isoform", "alpha isoform", "isoform a", "subunit alpha isoform", "alpha isoform a", "1 subunit alpha isoform", "subunit alpha isoform a", "protein 1 subunit alpha isoform", "1 subunit alpha isoform a", "alpha subunit", "1 alpha", "protein 1 alpha", "1 alpha subunit", "complex protein 1 alpha", "protein 1 alpha subunit", "tcp", "tcp 1", "tcp 1 alpha", "complex 1", "1 protein", "t complex 1", "complex 1 protein", "t complex 1 protein", "tailless", "tailless complex", "tailless complex polypeptide", "tailless complex polypeptide 1" ] }, { "record_id": "MONDO:0976125", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976125", "0976125", "mim:621034", "621034" ] }, { "record_id": "MONDO:0976125", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "speech", "or", "visual", "impairment", "and", "brain", "hypomyelination", "neurodevelopmental disorder", "disorder with", "with speech", "speech or", "or visual", "visual impairment", "impairment and", "and brain", "brain hypomyelination", "neurodevelopmental disorder with", "disorder with speech", "with speech or", "speech or visual", "or visual impairment", "visual impairment and", "impairment and brain", "and brain hypomyelination", "neurodevelopmental disorder with speech", "disorder with speech or", "with speech or visual", "speech or visual impairment", "or visual impairment and", "visual impairment and brain", "impairment and brain hypomyelination", "neurodevelopmental disorder with speech or", "disorder with speech or visual", "with speech or visual impairment", "speech or visual impairment and", "or visual impairment and brain", "visual impairment and brain hypomyelination" ] }, { "record_id": "MONDO:0976125", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976125", "record_type": "disease", "section": "proteins", "phraselist": [ "p49368", "p49368 1", "tcpg_human", "np_001008800", "glycoprotein", "cct3", "cct", "gamma", "cct gamma", "cctg", "nedsvh", "pig48", "tcp", "tcp 1", "1 gamma", "tcp 1 gamma", "tric5" ] }, { "record_id": "MONDO:0976125", "record_type": "disease", "section": "proteins", "phraselist": [ "complex", "protein", "subunit", "gamma", "t complex", "complex protein", "protein 1", "1 subunit", "subunit gamma", "t complex protein", "complex protein 1", "protein 1 subunit", "1 subunit gamma", "t complex protein 1", "complex protein 1 subunit", "protein 1 subunit gamma", "t complex protein 1 subunit", "complex protein 1 subunit gamma", "3.6.1.", "cct", "cct gamma", "chaperonin", "containing", "polypeptide", "chaperonin containing", "containing t", "complex polypeptide", "polypeptide 1", "subunit 3", "chaperonin containing t", "containing t complex", "t complex polypeptide", "complex polypeptide 1", "polypeptide 1 subunit", "1 subunit 3", "chaperonin containing t complex", "containing t complex polypeptide", "t complex polypeptide 1", "complex polypeptide 1 subunit", "polypeptide 1 subunit 3", "chaperonin containing t complex polypeptide", "containing t complex polypeptide 1", "t complex polypeptide 1 subunit", "complex polypeptide 1 subunit 3", "isoform", "gamma isoform", "isoform c", "subunit gamma isoform", "gamma isoform c", "1 subunit gamma isoform", "subunit gamma isoform c", "protein 1 subunit gamma isoform", "1 subunit gamma isoform c", "gamma subunit", "1 gamma", "protein 1 gamma", "1 gamma subunit", "complex protein 1 gamma", "protein 1 gamma subunit", "tcp", "tcp 1", "tcp 1 gamma", "tcp1", "ring", "complex 1", "ring complex", "polypeptide 5", "tcp1 t", "t complex 1", "1 ring", "tcp1 t complex", "complex 1 ring", "1 ring complex", "ring complex polypeptide", "complex polypeptide 5", "tcp1 t complex 1", "t complex 1 ring", "complex 1 ring complex", "ring complex polypeptide 5", "containing tcp1", "chaperonin containing tcp1", "tcp1 subunit", "3 gamma", "containing tcp1 subunit", "tcp1 subunit 3", "subunit 3 gamma", "chaperonin containing tcp1 subunit", "containing tcp1 subunit 3", "htric5" ] }, { "record_id": "MONDO:0976127", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976127", "0976127", "mim:621063", "621063" ] }, { "record_id": "MONDO:0976127", "record_type": "disease", "section": "disease_name", "phraselist": [ "muggenthaler", "chowdhury", "chioza", "syndrome", "muggenthaler chowdhury", "chowdhury chioza", "chioza syndrome", "muggenthaler chowdhury chioza", "chowdhury chioza syndrome", "muggenthaler chowdhury chioza syndrome", "cleft", "lip", "and", "palate", "craniofacial", "dysmorphism", "congenital", "heart", "defect", "deafness", "cleft lip", "lip and", "and palate", "palate craniofacial", "craniofacial dysmorphism", "dysmorphism congenital", "congenital heart", "heart defect", "defect deafness", "deafness syndrome", "cleft lip and", "lip and palate", "and palate craniofacial", "palate craniofacial dysmorphism", "craniofacial dysmorphism congenital", "dysmorphism congenital heart", "congenital heart defect", "heart defect deafness", "defect deafness syndrome", "cleft lip and palate", "lip and palate craniofacial", "and palate craniofacial dysmorphism", "palate craniofacial dysmorphism congenital", "craniofacial dysmorphism congenital heart", "dysmorphism congenital heart defect", "congenital heart defect deafness", "heart defect deafness syndrome", "cleft lip and palate craniofacial", "lip and palate craniofacial dysmorphism", "and palate craniofacial dysmorphism congenital", "palate craniofacial dysmorphism congenital heart", "craniofacial dysmorphism congenital heart defect", "dysmorphism congenital heart defect deafness", "congenital heart defect deafness syndrome", "hearing", "loss", "defect hearing", "hearing loss", "loss syndrome", "heart defect hearing", "defect hearing loss", "hearing loss syndrome", "congenital heart defect hearing", "heart defect hearing loss", "defect hearing loss syndrome", "dysmorphism congenital heart defect hearing", "congenital heart defect hearing loss", "heart defect hearing loss syndrome", "hyaluronidase", "deficiency", "hyaluronidase 2", "2 deficiency", "hyaluronidase 2 deficiency" ] }, { "record_id": "MONDO:0976127", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976127", "record_type": "disease", "section": "proteins", "phraselist": [ "q12891", "q12891 1", "hyal2_human", "np_003764", "glycoprotein", "hyal2", "luca2", "mccs" ] }, { "record_id": "MONDO:0976127", "record_type": "disease", "section": "proteins", "phraselist": [ "hyaluronidase", "hyaluronidase 2", "3.2.1.35", "hyal", "hyal 2", "hyaluronoglucosaminidase", "hyaluronoglucosaminidase 2", "luca", "luca 2", "lung", "carcinoma", "protein", "lung carcinoma", "carcinoma protein", "protein 2", "lung carcinoma protein", "carcinoma protein 2", "lung carcinoma protein 2", "ph", "20", "homolog", "ph 20", "20 homolog", "ph 20 homolog", "ph20", "ph20 homolog", "precursor", "2 precursor", "hyaluronidase 2 precursor", "lysosomal", "lysosomal hyaluronidase" ] }, { "record_id": "MONDO:0976128", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976128", "0976128", "mim:621064", "621064" ] }, { "record_id": "MONDO:0976128", "record_type": "disease", "section": "disease_name", "phraselist": [ "epilepsy", "idiopathic", "generalized", "susceptibility", "to", "19", "idiopathic generalized", "susceptibility to", "epilepsy idiopathic", "generalized susceptibility", "to 19", "epilepsy idiopathic generalized", "idiopathic generalized susceptibility", "generalized susceptibility to", "susceptibility to 19", "idiopathic generalized susceptibility to", "generalized 19", "idiopathic generalized 19", "epilepsy idiopathic generalized 19" ] }, { "record_id": "MONDO:0976128", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976128", "record_type": "disease", "section": "proteins", "phraselist": [ "q9uhp3", "q9uhp3 2", "ubp25_human", "np_001269970", "usp25", "eig19", "usp21" ] }, { "record_id": "MONDO:0976128", "record_type": "disease", "section": "proteins", "phraselist": [ "ubiquitin", "carboxyl", "terminal", "hydrolase", "25", "ubiquitin carboxyl", "carboxyl terminal", "terminal hydrolase", "hydrolase 25", "ubiquitin carboxyl terminal", "carboxyl terminal hydrolase", "terminal hydrolase 25", "ubiquitin carboxyl terminal hydrolase", "carboxyl terminal hydrolase 25", "ubiquitin carboxyl terminal hydrolase 25", "3.4.19.12", "deubiquitinating", "enzyme", "deubiquitinating enzyme", "enzyme 25", "deubiquitinating enzyme 25", "usp", "on", "chromosome", "21", "usp on", "on chromosome", "chromosome 21", "usp on chromosome", "on chromosome 21", "usp on chromosome 21", "thioesterase", "ubiquitin thioesterase", "thioesterase 25", "ubiquitin thioesterase 25", "specific", "processing", "protease", "ubiquitin specific", "specific processing", "processing protease", "protease 25", "ubiquitin specific processing", "specific processing protease", "processing protease 25", "ubiquitin specific processing protease", "specific processing protease 25", "ubiquitin specific processing protease 25", "isoform", "usp25m", "25 isoform", "isoform usp25m", "hydrolase 25 isoform", "25 isoform usp25m", "terminal hydrolase 25 isoform", "hydrolase 25 isoform usp25m", "carboxyl terminal hydrolase 25 isoform", "terminal hydrolase 25 isoform usp25m", "thiolesterase", "ubiquitin thiolesterase", "thiolesterase 25", "ubiquitin thiolesterase 25" ] }, { "record_id": "MONDO:0976129", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976129", "0976129", "mim:621065", "621065" ] }, { "record_id": "MONDO:0976129", "record_type": "disease", "section": "disease_name", "phraselist": [ "premature", "ovarian", "failure", "26", "premature ovarian", "ovarian failure", "failure 26", "premature ovarian failure", "ovarian failure 26", "premature ovarian failure 26" ] }, { "record_id": "MONDO:0976129", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976129", "record_type": "disease", "section": "proteins", "phraselist": [ "q8iwi9", "q8iwi9 4", "mgap_human", "np_001074010", "glycoprotein", "mga", "kiaa0518", "mad5", "mxd5", "pof26" ] }, { "record_id": "MONDO:0976129", "record_type": "disease", "section": "proteins", "phraselist": [ "max", "gene", "associated", "protein", "max gene", "gene associated", "associated protein", "max gene associated", "gene associated protein", "max gene associated protein", "dimerization", "max dimerization", "dimerization protein", "protein 5", "max dimerization protein", "dimerization protein 5", "max dimerization protein 5", "isoform", "protein isoform", "isoform 2", "associated protein isoform", "protein isoform 2", "gene associated protein isoform", "associated protein isoform 2", "max gene associated protein isoform", "gene associated protein isoform 2", "mga", "mga max", "mga max dimerization", "mga max dimerization protein" ] }, { "record_id": "MONDO:0976130", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976130", "0976130", "mim:621067", "621067" ] }, { "record_id": "MONDO:0976130", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "poor", "growth", "absent", "speech", "progressive", "ataxia", "and", "dysmorphic", "facies", "neurodevelopmental disorder", "disorder with", "with poor", "poor growth", "absent speech", "progressive ataxia", "and dysmorphic", "dysmorphic facies", "neurodevelopmental disorder with", "disorder with poor", "with poor growth", "growth absent", "speech progressive", "ataxia and", "and dysmorphic facies", "neurodevelopmental disorder with poor", "disorder with poor growth", "poor growth absent", "growth absent speech", "absent speech progressive", "speech progressive ataxia", "progressive ataxia and", "ataxia and dysmorphic", "neurodevelopmental disorder with poor growth", "with poor growth absent", "poor growth absent speech", "absent speech progressive ataxia", "progressive ataxia and dysmorphic", "ataxia and dysmorphic facies" ] }, { "record_id": "MONDO:0976130", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976130", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ubv2", "q9ubv2 1", "se1l1_human", "np_001231913", "glycoprotein", "sel1l", "hrd3", "nedgsaf", "nedhgfa", "pro1063", "sel1", "like", "sel1 like", "sel1l1", "tsa305" ] }, { "record_id": "MONDO:0976130", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "sel", "homolog", "protein sel", "sel 1", "1 homolog", "homolog 1", "protein sel 1", "sel 1 homolog", "1 homolog 1", "protein sel 1 homolog", "sel 1 homolog 1", "protein sel 1 homolog 1", "sel1l", "adaptor", "subunit", "of", "erad", "e3", "ubiquitin", "ligase", "sel1l adaptor", "adaptor subunit", "subunit of", "of erad", "erad e3", "e3 ubiquitin", "ubiquitin ligase", "sel1l adaptor subunit", "adaptor subunit of", "subunit of erad", "of erad e3", "erad e3 ubiquitin", "e3 ubiquitin ligase", "sel1l adaptor subunit of", "adaptor subunit of erad", "subunit of erad e3", "of erad e3 ubiquitin", "erad e3 ubiquitin ligase", "sel1l adaptor subunit of erad", "adaptor subunit of erad e3", "subunit of erad e3 ubiquitin", "of erad e3 ubiquitin ligase", "e3 ligase", "ligase adaptor", "sel1l erad", "erad e3 ligase", "e3 ligase adaptor", "ligase adaptor subunit", "sel1l erad e3", "erad e3 ligase adaptor", "e3 ligase adaptor subunit", "sel1l erad e3 ligase", "erad e3 ligase adaptor subunit", "1l", "sel 1l", "suppressor", "lin", "12", "c.", "elegans", "suppressor of", "of lin", "lin 12", "c. elegans", "homolog of", "suppressor of lin", "of lin 12", "12 sel", "elegans homolog", "suppressor of lin 12", "lin 12 sel", "12 sel 1", "1 c.", "c. elegans homolog", "elegans homolog of", "of lin 12 sel", "lin 12 sel 1", "sel 1 c.", "1 c. elegans", "c. elegans homolog of", "like", "12 like", "like protein", "protein 1", "lin 12 like", "12 like protein", "like protein 1", "of lin 12 like", "lin 12 like protein", "12 like protein 1", "suppressor of lin 12 like", "of lin 12 like protein", "lin 12 like protein 1", "isoform", "precursor", "1 isoform", "isoform 2", "2 precursor", "homolog 1 isoform", "1 isoform 2", "isoform 2 precursor", "1 homolog 1 isoform", "homolog 1 isoform 2", "1 isoform 2 precursor", "sel 1 homolog 1 isoform", "1 homolog 1 isoform 2", "homolog 1 isoform 2 precursor", "1 suppressor", "like 1", "sel 1 suppressor", "1 suppressor of", "12 like 1", "sel 1 suppressor of", "1 suppressor of lin", "lin 12 like 1", "sel 1 suppressor of lin", "1 suppressor of lin 12", "of lin 12 like 1" ] }, { "record_id": "MONDO:0976131", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976131", "0976131", "mim:621068", "621068" ] }, { "record_id": "MONDO:0976131", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "hypotonia", "poor", "growth", "dysmorphic", "facies", "and", "agammaglobulinemia", "neurodevelopmental disorder", "disorder with", "with hypotonia", "poor growth", "dysmorphic facies", "and agammaglobulinemia", "neurodevelopmental disorder with", "disorder with hypotonia", "hypotonia poor", "growth dysmorphic", "facies and", "neurodevelopmental disorder with hypotonia", "with hypotonia poor", "hypotonia poor growth", "poor growth dysmorphic", "growth dysmorphic facies", "dysmorphic facies and", "facies and agammaglobulinemia", "disorder with hypotonia poor", "with hypotonia poor growth", "poor growth dysmorphic facies", "dysmorphic facies and agammaglobulinemia" ] }, { "record_id": "MONDO:0976131", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976131", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ubv2", "q9ubv2 1", "se1l1_human", "np_001231913", "glycoprotein", "sel1l", "hrd3", "nedgsaf", "nedhgfa", "pro1063", "sel1", "like", "sel1 like", "sel1l1", "tsa305" ] }, { "record_id": "MONDO:0976131", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "sel", "homolog", "protein sel", "sel 1", "1 homolog", "homolog 1", "protein sel 1", "sel 1 homolog", "1 homolog 1", "protein sel 1 homolog", "sel 1 homolog 1", "protein sel 1 homolog 1", "sel1l", "adaptor", "subunit", "of", "erad", "e3", "ubiquitin", "ligase", "sel1l adaptor", "adaptor subunit", "subunit of", "of erad", "erad e3", "e3 ubiquitin", "ubiquitin ligase", "sel1l adaptor subunit", "adaptor subunit of", "subunit of erad", "of erad e3", "erad e3 ubiquitin", "e3 ubiquitin ligase", "sel1l adaptor subunit of", "adaptor subunit of erad", "subunit of erad e3", "of erad e3 ubiquitin", "erad e3 ubiquitin ligase", "sel1l adaptor subunit of erad", "adaptor subunit of erad e3", "subunit of erad e3 ubiquitin", "of erad e3 ubiquitin ligase", "e3 ligase", "ligase adaptor", "sel1l erad", "erad e3 ligase", "e3 ligase adaptor", "ligase adaptor subunit", "sel1l erad e3", "erad e3 ligase adaptor", "e3 ligase adaptor subunit", "sel1l erad e3 ligase", "erad e3 ligase adaptor subunit", "1l", "sel 1l", "suppressor", "lin", "12", "c.", "elegans", "suppressor of", "of lin", "lin 12", "c. elegans", "homolog of", "suppressor of lin", "of lin 12", "12 sel", "elegans homolog", "suppressor of lin 12", "lin 12 sel", "12 sel 1", "1 c.", "c. elegans homolog", "elegans homolog of", "of lin 12 sel", "lin 12 sel 1", "sel 1 c.", "1 c. elegans", "c. elegans homolog of", "like", "12 like", "like protein", "protein 1", "lin 12 like", "12 like protein", "like protein 1", "of lin 12 like", "lin 12 like protein", "12 like protein 1", "suppressor of lin 12 like", "of lin 12 like protein", "lin 12 like protein 1", "isoform", "precursor", "1 isoform", "isoform 2", "2 precursor", "homolog 1 isoform", "1 isoform 2", "isoform 2 precursor", "1 homolog 1 isoform", "homolog 1 isoform 2", "1 isoform 2 precursor", "sel 1 homolog 1 isoform", "1 homolog 1 isoform 2", "homolog 1 isoform 2 precursor", "1 suppressor", "like 1", "sel 1 suppressor", "1 suppressor of", "12 like 1", "sel 1 suppressor of", "1 suppressor of lin", "lin 12 like 1", "sel 1 suppressor of lin", "1 suppressor of lin 12", "of lin 12 like 1" ] }, { "record_id": "MONDO:0976136", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976136", "0976136", "mim:621091", "621091" ] }, { "record_id": "MONDO:0976136", "record_type": "disease", "section": "disease_name", "phraselist": [ "ocular", "pterygium", "digital", "keloid", "dysplasia", "syndrome", "ocular pterygium", "pterygium digital", "digital keloid", "keloid dysplasia", "dysplasia syndrome", "ocular pterygium digital", "pterygium digital keloid", "digital keloid dysplasia", "keloid dysplasia syndrome", "ocular pterygium digital keloid", "pterygium digital keloid dysplasia", "digital keloid dysplasia syndrome", "ocular pterygium digital keloid dysplasia", "pterygium digital keloid dysplasia syndrome" ] }, { "record_id": "MONDO:0976136", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976136", "record_type": "disease", "section": "proteins", "phraselist": [ "p09619", "p09619 1", "pgfrb_human", "np_002600", "glycoprotein", "pdgfrb", "cd140b", "ibgc4", "imf1", "jtk12", "kogs", "opdkd", "pdgfr", "pdgfr 1", "pdgfr1", "pentt" ] }, { "record_id": "MONDO:0976136", "record_type": "disease", "section": "proteins", "phraselist": [ "platelet", "derived", "growth", "factor", "receptor", "beta", "platelet derived", "derived growth", "growth factor", "factor receptor", "receptor beta", "platelet derived growth", "derived growth factor", "growth factor receptor", "factor receptor beta", "platelet derived growth factor", "derived growth factor receptor", "growth factor receptor beta", "platelet derived growth factor receptor", "derived growth factor receptor beta", "2.7.10.1", "activated", "tyrosine", "kinase", "pdgfrb", "activated tyrosine", "tyrosine kinase", "kinase pdgfrb", "activated tyrosine kinase", "tyrosine kinase pdgfrb", "activated tyrosine kinase pdgfrb", "beta platelet", "beta platelet derived", "beta platelet derived growth", "beta platelet derived growth factor", "type", "beta type", "type platelet", "beta type platelet", "type platelet derived", "beta type platelet derived", "type platelet derived growth", "beta type platelet derived growth", "type platelet derived growth factor", "cd140", "antigen", "like", "family", "member", "cd140 antigen", "antigen like", "like family", "family member", "member b", "cd140 antigen like", "antigen like family", "like family member", "family member b", "cd140 antigen like family", "antigen like family member", "like family member b", "cd140 antigen like family member", "antigen like family member b", "pdgf", "pdgf r", "r beta", "pdgf r beta", "pdgfr", "pdgfr 1", "pdgfr beta", "receptor 1", "factor receptor 1", "growth factor receptor 1", "derived growth factor receptor 1", "isoform", "precursor", "beta isoform", "isoform 1", "1 precursor", "receptor beta isoform", "beta isoform 1", "isoform 1 precursor", "factor receptor beta isoform", "receptor beta isoform 1", "beta isoform 1 precursor", "growth factor receptor beta isoform", "factor receptor beta isoform 1", "receptor beta isoform 1 precursor", "polypeptide", "beta polypeptide", "receptor beta polypeptide", "factor receptor beta polypeptide" ] }, { "record_id": "MONDO:0976137", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976137", "0976137", "mim:621093", "621093" ] }, { "record_id": "MONDO:0976137", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte/zygote/embryo", "maturation", "arrest", "22", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 22", "oocyte/zygote/embryo maturation arrest", "maturation arrest 22", "oocyte/zygote/embryo maturation arrest 22" ] }, { "record_id": "MONDO:0976137", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976137", "record_type": "disease", "section": "proteins", "phraselist": [ "q4vxu2", "q4vxu2 1", "pap1l_human", "np_001359108", "glycoprotein", "pabpc1l", "c20orf119", "epab", "ozema22", "pabpc1l1", "dj1069p2.3" ] }, { "record_id": "MONDO:0976137", "record_type": "disease", "section": "proteins", "phraselist": [ "polyadenylate", "binding", "protein", "like", "polyadenylate binding", "binding protein", "protein 1", "1 like", "polyadenylate binding protein", "binding protein 1", "protein 1 like", "polyadenylate binding protein 1", "binding protein 1 like", "polyadenylate binding protein 1 like", "embryonic", "poly", "embryonic poly", "poly a", "embryonic poly a", "a binding", "poly a binding", "a binding protein", "embryonic poly a binding", "poly a binding protein", "cytoplasmic", "protein cytoplasmic", "cytoplasmic 1", "binding protein cytoplasmic", "protein cytoplasmic 1", "cytoplasmic 1 like", "binding protein cytoplasmic 1", "protein cytoplasmic 1 like", "a binding protein cytoplasmic", "binding protein cytoplasmic 1 like" ] }, { "record_id": "MONDO:0976233", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976233", "0976233", "mim:621102", "621102" ] }, { "record_id": "MONDO:0976233", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "progressive", "spasticity", "and", "brain", "abnormalities", "neurodevelopmental disorder", "disorder with", "with progressive", "progressive spasticity", "spasticity and", "and brain", "brain abnormalities", "neurodevelopmental disorder with", "disorder with progressive", "with progressive spasticity", "progressive spasticity and", "spasticity and brain", "and brain abnormalities", "neurodevelopmental disorder with progressive", "disorder with progressive spasticity", "with progressive spasticity and", "progressive spasticity and brain", "spasticity and brain abnormalities", "neurodevelopmental disorder with progressive spasticity", "disorder with progressive spasticity and", "with progressive spasticity and brain", "progressive spasticity and brain abnormalities" ] }, { "record_id": "MONDO:0976233", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976233", "record_type": "disease", "section": "proteins", "phraselist": [ "p57772", "p57772 1", "selb_human", "np_068756", "glycoprotein", "eefsec", "efsec", "nedpsb", "selb" ] }, { "record_id": "MONDO:0976233", "record_type": "disease", "section": "proteins", "phraselist": [ "selenocysteine", "specific", "elongation", "factor", "selenocysteine specific", "specific elongation", "elongation factor", "selenocysteine specific elongation", "specific elongation factor", "selenocysteine specific elongation factor", "3.6.5.", "sec", "factor sec", "elongation factor sec", "eukaryotic", "trna", "eukaryotic elongation", "selenocysteine trna", "trna specific", "eukaryotic elongation factor", "factor selenocysteine", "selenocysteine trna specific", "elongation factor selenocysteine", "factor selenocysteine trna", "eukaryotic elongation factor selenocysteine", "elongation factor selenocysteine trna", "factor selenocysteine trna specific", "for", "selenoprotein", "translation", "factor for", "for selenoprotein", "selenoprotein translation", "elongation factor for", "factor for selenoprotein", "for selenoprotein translation", "elongation factor for selenoprotein", "factor for selenoprotein translation", "elongation factor for selenoprotein translation", "protein", "specific protein", "trna specific protein", "selenocysteine trna specific protein", "eukaryotic elongation factor selenocysteine trna", "elongation factor selenocysteine trna specific", "factor selenocysteine trna specific protein", "specific eukaryotic", "selenocysteine sec", "sec specific", "specific eukaryotic elongation", "sec specific eukaryotic", "specific eukaryotic elongation factor", "selenocysteine sec specific", "sec specific eukaryotic elongation", "isoform", "factor isoform", "isoform 2", "elongation factor isoform", "factor isoform 2", "specific elongation factor isoform", "elongation factor isoform 2", "selenocysteine specific elongation factor isoform", "specific elongation factor isoform 2" ] }, { "record_id": "MONDO:0976236", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976236", "0976236", "mim:301142", "301142" ] }, { "record_id": "MONDO:0976236", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodegenerative", "disorder", "linked", "female", "restricted", "with", "parkinsonism", "and", "cognitive", "impairment", "neurodegenerative disorder", "x linked", "female restricted", "with parkinsonism", "parkinsonism and", "and cognitive", "cognitive impairment", "disorder x", "linked female", "restricted with", "with parkinsonism and", "parkinsonism and cognitive", "and cognitive impairment", "neurodegenerative disorder x", "disorder x linked", "x linked female", "linked female restricted", "female restricted with", "restricted with parkinsonism", "with parkinsonism and cognitive", "parkinsonism and cognitive impairment", "neurodegenerative disorder x linked", "x linked female restricted", "female restricted with parkinsonism", "restricted with parkinsonism and", "with parkinsonism and cognitive impairment", "impairement", "cognitive impairement", "and cognitive impairement", "parkinsonism and cognitive impairement", "with parkinsonism and cognitive impairement" ] }, { "record_id": "MONDO:0976236", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976236", "record_type": "disease", "section": "proteins", "phraselist": [ "q92581", "q92581 2", "sl9a6_human", "np_001036002", "glycoprotein", "slc9a6", "kiaa0267", "mrsa", "mrxsch", "ndpacx", "nhe6" ] }, { "record_id": "MONDO:0976236", "record_type": "disease", "section": "proteins", "phraselist": [ "sodium/hydrogen", "exchanger", "sodium/hydrogen exchanger", "exchanger 6", "sodium/hydrogen exchanger 6", "nhe", "nhe 6", "na", "/h", "na +", "+ /h", "/h +", "na + /h", "+ /h +", "+ exchanger", "na + /h +", "/h + exchanger", "+ exchanger 6", "+ /h + exchanger", "/h + exchanger 6", "solute", "carrier", "family", "member", "solute carrier", "carrier family", "family 9", "9 member", "member 6", "solute carrier family", "carrier family 9", "family 9 member", "9 member 6", "solute carrier family 9", "carrier family 9 member", "family 9 member 6", "solute carrier family 9 member", "carrier family 9 member 6", "isoform", "precursor", "6 isoform", "isoform a", "a precursor", "exchanger 6 isoform", "6 isoform a", "isoform a precursor", "sodium/hydrogen exchanger 6 isoform", "exchanger 6 isoform a", "6 isoform a precursor", "sodium/hydrogen exchanger 6 isoform a", "exchanger 6 isoform a precursor", "9 sodium/hydrogen", "family 9 sodium/hydrogen", "9 sodium/hydrogen exchanger", "exchanger member", "carrier family 9 sodium/hydrogen", "family 9 sodium/hydrogen exchanger", "sodium/hydrogen exchanger member", "exchanger member 6", "subfamily", "nhe6", "cation", "proton", "antiporter", "subfamily a", "cation proton", "proton antiporter", "antiporter 6", "9 subfamily", "a nhe6", "nhe6 cation", "cation proton antiporter", "proton antiporter 6", "family 9 subfamily", "9 subfamily a", "subfamily a nhe6", "nhe6 cation proton", "cation proton antiporter 6", "6 member", "carrier family 9 subfamily", "family 9 subfamily a", "a nhe6 cation", "nhe6 cation proton antiporter", "antiporter 6 member", "6 member 6" ] }, { "record_id": "MONDO:0976261", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976261", "0976261", "mim:621140", "621140" ] }, { "record_id": "MONDO:0976261", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "disorder", "of", "glycosylation", "type", "1ee", "with", "or", "without", "immunodeficiency", "congenital disorder", "disorder of", "of glycosylation", "glycosylation type", "type 1ee", "1ee with", "with or", "or without", "without immunodeficiency", "congenital disorder of", "disorder of glycosylation", "of glycosylation type", "glycosylation type 1ee", "type 1ee with", "1ee with or", "with or without", "or without immunodeficiency", "congenital disorder of glycosylation", "disorder of glycosylation type", "of glycosylation type 1ee", "glycosylation type 1ee with", "type 1ee with or", "1ee with or without", "with or without immunodeficiency", "congenital disorder of glycosylation type", "disorder of glycosylation type 1ee", "of glycosylation type 1ee with", "glycosylation type 1ee with or", "type 1ee with or without", "1ee with or without immunodeficiency", "man2b2", "cdg", "man2b2 cdg", "man2b2 congenital", "man2b2 congenital disorder", "man2b2 congenital disorder of", "man2b2 congenital disorder of glycosylation", "glycosylation 1ee", "of glycosylation 1ee", "glycosylation 1ee with", "disorder of glycosylation 1ee", "of glycosylation 1ee with", "glycosylation 1ee with or", "congenital disorder of glycosylation 1ee", "disorder of glycosylation 1ee with", "of glycosylation 1ee with or", "glycosylation 1ee with or without" ] }, { "record_id": "MONDO:0976261", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976261", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y2e5", "q9y2e5 1", "ma2b2_human", "np_001278967", "glycoprotein", "man2b2", "cdg1ee", "epman", "kiaa0935" ] }, { "record_id": "MONDO:0976261", "record_type": "disease", "section": "proteins", "phraselist": [ "epididymis", "specific", "alpha", "mannosidase", "epididymis specific", "specific alpha", "alpha mannosidase", "epididymis specific alpha", "specific alpha mannosidase", "epididymis specific alpha mannosidase", "3.2.1.24", "alpha 1", "1 6", "6 mannosidase", "alpha 1 6", "1 6 mannosidase", "alpha 1 6 mannosidase", "core", "lysosomal", "core specific", "specific lysosomal", "lysosomal alpha", "core specific lysosomal", "specific lysosomal alpha", "lysosomal alpha 1", "core specific lysosomal alpha", "specific lysosomal alpha 1", "lysosomal alpha 1 6", "core specific lysosomal alpha 1", "specific lysosomal alpha 1 6", "lysosomal alpha 1 6 mannosidase", "epman", "class", "2b", "member", "mannosidase alpha", "alpha class", "class 2b", "2b member", "member 2", "mannosidase alpha class", "alpha class 2b", "class 2b member", "2b member 2", "mannosidase alpha class 2b", "alpha class 2b member", "class 2b member 2", "mannosidase alpha class 2b member", "alpha class 2b member 2", "secretory", "sperm", "binding", "protein", "epididymis secretory", "secretory sperm", "sperm binding", "binding protein", "epididymis secretory sperm", "secretory sperm binding", "sperm binding protein", "epididymis secretory sperm binding", "secretory sperm binding protein", "epididymis secretory sperm binding protein", "isoform", "precursor", "mannosidase isoform", "isoform 2", "2 precursor", "alpha mannosidase isoform", "mannosidase isoform 2", "isoform 2 precursor", "specific alpha mannosidase isoform", "alpha mannosidase isoform 2", "mannosidase isoform 2 precursor", "epididymis specific alpha mannosidase isoform", "specific alpha mannosidase isoform 2", "alpha mannosidase isoform 2 precursor" ] }, { "record_id": "MONDO:0976262", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976262", "0976262", "mim:621143", "621143" ] }, { "record_id": "MONDO:0976262", "record_type": "disease", "section": "disease_name", "phraselist": [ "holoprosencephaly", "10", "holoprosencephaly 10" ] }, { "record_id": "MONDO:0976262", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976262", "record_type": "disease", "section": "proteins", "phraselist": [ "q96f81", "q96f81 1", "disp1_human", "np_116279", "glycoprotein", "disp1", "dispa", "hpe10" ] }, { "record_id": "MONDO:0976262", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "dispatched", "homolog", "protein dispatched", "dispatched homolog", "homolog 1", "protein dispatched homolog", "dispatched homolog 1", "protein dispatched homolog 1", "dispatched a", "isoform", "1 isoform", "isoform 1", "homolog 1 isoform", "1 isoform 1", "dispatched homolog 1 isoform", "homolog 1 isoform 1", "protein dispatched homolog 1 isoform", "dispatched homolog 1 isoform 1" ] }, { "record_id": "MONDO:0976263", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976263", "0976263", "mim:621150", "621150" ] }, { "record_id": "MONDO:0976263", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "thin", "corpus", "callosum", "hypotonia", "and", "absent", "language", "neurodevelopmental disorder", "disorder with", "with thin", "thin corpus", "corpus callosum", "and absent", "absent language", "neurodevelopmental disorder with", "disorder with thin", "with thin corpus", "thin corpus callosum", "callosum hypotonia", "hypotonia and", "and absent language", "neurodevelopmental disorder with thin", "disorder with thin corpus", "with thin corpus callosum", "corpus callosum hypotonia", "hypotonia and absent", "neurodevelopmental disorder with thin corpus", "disorder with thin corpus callosum", "thin corpus callosum hypotonia", "callosum hypotonia and", "hypotonia and absent language" ] }, { "record_id": "MONDO:0976263", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976263", "record_type": "disease", "section": "proteins", "phraselist": [ "p29692", "p29692 1", "ef1d_human", "np_001123527", "glycoprotein", "eef1d", "ef", "1d", "ef 1d", "ef1d", "fp1047", "nedtchal" ] }, { "record_id": "MONDO:0976263", "record_type": "disease", "section": "proteins", "phraselist": [ "elongation", "factor", "delta", "elongation factor", "factor 1", "1 delta", "elongation factor 1", "factor 1 delta", "elongation factor 1 delta", "antigen", "ny", "co", "antigen ny", "ny co", "co 4", "antigen ny co", "ny co 4", "antigen ny co 4", "ef", "ef 1", "ef 1 delta", "isoform", "delta isoform", "isoform 2", "1 delta isoform", "delta isoform 2", "factor 1 delta isoform", "1 delta isoform 2", "elongation factor 1 delta isoform", "factor 1 delta isoform 2", "eukaryotic", "translation", "guanine", "nucleotide", "exchange", "protein", "eukaryotic translation", "translation elongation", "guanine nucleotide", "nucleotide exchange", "exchange protein", "eukaryotic translation elongation", "translation elongation factor", "delta guanine", "guanine nucleotide exchange", "nucleotide exchange protein", "eukaryotic translation elongation factor", "translation elongation factor 1", "1 delta guanine", "delta guanine nucleotide", "guanine nucleotide exchange protein", "eukaryotic translation elongation factor 1", "translation elongation factor 1 delta", "factor 1 delta guanine", "1 delta guanine nucleotide", "delta guanine nucleotide exchange" ] }, { "record_id": "MONDO:0976264", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976264", "0976264", "mim:621152", "621152" ] }, { "record_id": "MONDO:0976264", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "white", "matter", "abnormalities", "and", "gait", "disturbance", "neurodevelopmental disorder", "disorder with", "with white", "white matter", "matter abnormalities", "abnormalities and", "and gait", "gait disturbance", "neurodevelopmental disorder with", "disorder with white", "with white matter", "white matter abnormalities", "matter abnormalities and", "abnormalities and gait", "and gait disturbance", "neurodevelopmental disorder with white", "disorder with white matter", "with white matter abnormalities", "white matter abnormalities and", "matter abnormalities and gait", "abnormalities and gait disturbance", "neurodevelopmental disorder with white matter", "disorder with white matter abnormalities", "with white matter abnormalities and", "white matter abnormalities and gait", "matter abnormalities and gait disturbance" ] }, { "record_id": "MONDO:0976264", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976264", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n128", "q8n128 1", "f177a_human", "np_001072987", "glycoprotein", "fam177a1", "c14orf24", "nedwmg" ] }, { "record_id": "MONDO:0976264", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "fam177a1", "protein fam177a1", "isoform", "fam177a1 isoform", "isoform 2", "protein fam177a1 isoform", "fam177a1 isoform 2", "protein fam177a1 isoform 2" ] }, { "record_id": "MONDO:0976265", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976265", "0976265", "mim:621154", "621154" ] }, { "record_id": "MONDO:0976265", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "poor", "growth", "seizures", "and", "brain", "abnormalities", "neurodevelopmental disorder", "disorder with", "with poor", "poor growth", "and brain", "brain abnormalities", "neurodevelopmental disorder with", "disorder with poor", "with poor growth", "growth seizures", "seizures and", "and brain abnormalities", "neurodevelopmental disorder with poor", "disorder with poor growth", "poor growth seizures", "seizures and brain", "neurodevelopmental disorder with poor growth", "with poor growth seizures", "growth seizures and", "seizures and brain abnormalities" ] }, { "record_id": "MONDO:0976265", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976265", "record_type": "disease", "section": "proteins", "phraselist": [ "q5t280", "q5t280 1", "spout_human", "np_057474", "spout1", "c9orf114", "cenp", "32", "cenp 32", "cenp32", "hspc109", "nedgsb" ] }, { "record_id": "MONDO:0976265", "record_type": "disease", "section": "proteins", "phraselist": [ "28s", "rrna", "uridine", "methyltransferase", "28s rrna", "uridine n", "n 3", "rrna uridine", "uridine n 3", "28s rrna uridine", "rrna uridine n", "3 methyltransferase", "28s rrna uridine n", "rrna uridine n 3", "n 3 methyltransferase", "2.1.1.", "cenp", "32", "cenp 32", "centromere", "protein", "centromere protein", "protein 32", "centromere protein 32", "kinetochore", "associated", "kinetochore associated", "associated protein", "kinetochore associated protein", "c9orf114", "methyltransferase c9orf114", "ribosomal", "rna", "spout1", "ribosomal rna", "rna methyltransferase", "methyltransferase spout1", "ribosomal rna methyltransferase", "rna methyltransferase spout1", "ribosomal rna methyltransferase spout1", "spout", "domain", "containing", "spout domain", "domain containing", "containing methyltransferase", "methyltransferase 1", "spout domain containing", "domain containing methyltransferase", "containing methyltransferase 1", "spout domain containing methyltransferase", "domain containing methyltransferase 1", "spout domain containing methyltransferase 1", "putative", "putative methyltransferase", "putative methyltransferase c9orf114" ] }, { "record_id": "MONDO:0976266", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976266", "0976266", "mim:621160", "621160" ] }, { "record_id": "MONDO:0976266", "record_type": "disease", "section": "disease_name", "phraselist": [ "diarrhea", "14", "congenital", "diarrhea 14", "14 congenital", "diarrhea 14 congenital" ] }, { "record_id": "MONDO:0976266", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976266", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bq67", "q9bq67 1", "grwd1_human", "np_113673", "glycoprotein", "grwd1", "cdw4", "diar14", "grwd", "kiaa1942", "rrb1", "wdr28" ] }, { "record_id": "MONDO:0976266", "record_type": "disease", "section": "proteins", "phraselist": [ "glutamate", "rich", "wd", "repeat", "containing", "protein", "glutamate rich", "rich wd", "wd repeat", "repeat containing", "containing protein", "protein 1", "glutamate rich wd", "rich wd repeat", "wd repeat containing", "repeat containing protein", "containing protein 1", "glutamate rich wd repeat", "rich wd repeat containing", "wd repeat containing protein", "repeat containing protein 1", "glutamate rich wd repeat containing", "rich wd repeat containing protein", "wd repeat containing protein 1", "cul4", "and", "ddb1", "associated", "wdr", "and ddb1", "ddb1 associated", "associated wdr", "wdr protein", "protein 4", "cul4 and", "and ddb1 associated", "ddb1 associated wdr", "associated wdr protein", "wdr protein 4", "cul4 and ddb1", "and ddb1 associated wdr", "ddb1 associated wdr protein", "associated wdr protein 4", "cul4 and ddb1 associated", "and ddb1 associated wdr protein", "ddb1 associated wdr protein 4", "domain", "28", "repeat domain", "domain 28", "wd repeat domain", "repeat domain 28", "wd repeat domain 28", "grwd", "repeat protein", "protein grwd", "wd repeat protein", "repeat protein grwd", "rich wd repeat protein", "wd repeat protein grwd", "glutamate rich wd repeat protein", "rich wd repeat protein grwd", "regulator", "of", "ribosome", "biogenesis", "homolog", "regulator of", "of ribosome", "ribosome biogenesis", "biogenesis 1", "1 homolog", "regulator of ribosome", "of ribosome biogenesis", "ribosome biogenesis 1", "biogenesis 1 homolog", "regulator of ribosome biogenesis", "of ribosome biogenesis 1", "ribosome biogenesis 1 homolog", "regulator of ribosome biogenesis 1", "of ribosome biogenesis 1 homolog" ] }, { "record_id": "MONDO:0976267", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976267", "0976267", "mim:621164", "621164" ] }, { "record_id": "MONDO:0976267", "record_type": "disease", "section": "disease_name", "phraselist": [ "polycystic", "kidney", "disease", "susceptibility", "to", "polycystic kidney", "kidney disease", "disease 9", "susceptibility to", "polycystic kidney disease", "kidney disease 9", "9 susceptibility", "polycystic kidney disease 9", "disease 9 susceptibility", "9 susceptibility to", "kidney disease 9 susceptibility", "disease 9 susceptibility to" ] }, { "record_id": "MONDO:0976267", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976267", "record_type": "disease", "section": "proteins", "phraselist": [ "q96ry7", "q96ry7 1", "if140_human", "np_055529", "glycoprotein", "ift140", "ced5", "kiaa0590", "mzsds", "pkd9", "rp80", "srtd9", "wdtc2", "c305c8.4", "c380f5.1", "gs114" ] }, { "record_id": "MONDO:0976267", "record_type": "disease", "section": "proteins", "phraselist": [ "intraflagellar", "transport", "protein", "140", "homolog", "intraflagellar transport", "transport protein", "protein 140", "140 homolog", "intraflagellar transport protein", "transport protein 140", "protein 140 homolog", "intraflagellar transport protein 140", "transport protein 140 homolog", "intraflagellar transport protein 140 homolog", "wd", "and", "tetratricopeptide", "repeats", "wd and", "and tetratricopeptide", "tetratricopeptide repeats", "repeats protein", "protein 2", "wd and tetratricopeptide", "and tetratricopeptide repeats", "tetratricopeptide repeats protein", "repeats protein 2", "wd and tetratricopeptide repeats", "and tetratricopeptide repeats protein", "tetratricopeptide repeats protein 2", "wd and tetratricopeptide repeats protein", "and tetratricopeptide repeats protein 2", "transport 140", "intraflagellar transport 140", "transport 140 homolog", "intraflagellar transport 140 homolog" ] }, { "record_id": "MONDO:0976268", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976268", "0976268", "mim:621179", "621179" ] }, { "record_id": "MONDO:0976268", "record_type": "disease", "section": "disease_name", "phraselist": [ "diarrhea", "15", "congenital", "diarrhea 15", "15 congenital", "diarrhea 15 congenital" ] }, { "record_id": "MONDO:0976268", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976268", "record_type": "disease", "section": "proteins", "phraselist": [ "q9ubc5", "q9ubc5 1", "myo1a_human", "np_001242970", "glycoprotein", "myo1a", "bbmi", "dfna48", "diar15", "mihc", "myhl" ] }, { "record_id": "MONDO:0976268", "record_type": "disease", "section": "proteins", "phraselist": [ "unconventional", "myosin", "ia", "unconventional myosin", "myosin ia", "unconventional myosin ia", "bbm", "bbm i", "bbmi", "brush", "border", "brush border", "border myosin", "myosin i", "brush border myosin", "border myosin i", "brush border myosin i", "mihc", "heavy", "chain", "i heavy", "heavy chain", "myosin i heavy", "i heavy chain", "myosin i heavy chain", "polypeptide", "like", "100kd", "heavy polypeptide", "polypeptide like", "myosin heavy", "heavy polypeptide like", "like 100kd", "myosin heavy polypeptide", "polypeptide like 100kd", "myosin heavy polypeptide like", "heavy polypeptide like 100kd", "110kda", "like 110kda", "polypeptide like 110kda", "heavy polypeptide like 110kda" ] }, { "record_id": "MONDO:0976269", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976269", "0976269", "mim:621180", "621180" ] }, { "record_id": "MONDO:0976269", "record_type": "disease", "section": "disease_name", "phraselist": [ "cranioectodermal", "dysplasia", "cranioectodermal dysplasia", "dysplasia 5", "cranioectodermal dysplasia 5" ] }, { "record_id": "MONDO:0976269", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976269", "record_type": "disease", "section": "proteins", "phraselist": [ "q96ry7", "q96ry7 1", "if140_human", "np_055529", "glycoprotein", "ift140", "ced5", "kiaa0590", "mzsds", "pkd9", "rp80", "srtd9", "wdtc2", "c305c8.4", "c380f5.1", "gs114" ] }, { "record_id": "MONDO:0976269", "record_type": "disease", "section": "proteins", "phraselist": [ "intraflagellar", "transport", "protein", "140", "homolog", "intraflagellar transport", "transport protein", "protein 140", "140 homolog", "intraflagellar transport protein", "transport protein 140", "protein 140 homolog", "intraflagellar transport protein 140", "transport protein 140 homolog", "intraflagellar transport protein 140 homolog", "wd", "and", "tetratricopeptide", "repeats", "wd and", "and tetratricopeptide", "tetratricopeptide repeats", "repeats protein", "protein 2", "wd and tetratricopeptide", "and tetratricopeptide repeats", "tetratricopeptide repeats protein", "repeats protein 2", "wd and tetratricopeptide repeats", "and tetratricopeptide repeats protein", "tetratricopeptide repeats protein 2", "wd and tetratricopeptide repeats protein", "and tetratricopeptide repeats protein 2", "transport 140", "intraflagellar transport 140", "transport 140 homolog", "intraflagellar transport 140 homolog" ] }, { "record_id": "MONDO:0976285", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976285", "0976285", "mim:621182", "621182" ] }, { "record_id": "MONDO:0976285", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "poor", "or", "absent", "speech", "dysmorphic", "facies", "and", "behavioral", "abnormalities", "neurodevelopmental disorder", "disorder with", "with poor", "poor or", "or absent", "absent speech", "dysmorphic facies", "and behavioral", "behavioral abnormalities", "neurodevelopmental disorder with", "disorder with poor", "with poor or", "poor or absent", "or absent speech", "speech dysmorphic", "facies and", "and behavioral abnormalities", "neurodevelopmental disorder with poor", "disorder with poor or", "with poor or absent", "poor or absent speech", "absent speech dysmorphic", "speech dysmorphic facies", "dysmorphic facies and", "facies and behavioral", "neurodevelopmental disorder with poor or", "disorder with poor or absent", "with poor or absent speech", "or absent speech dysmorphic", "absent speech dysmorphic facies", "dysmorphic facies and behavioral", "facies and behavioral abnormalities" ] }, { "record_id": "MONDO:0976285", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976285", "record_type": "disease", "section": "proteins", "phraselist": [ "q8ivl0", "q8ivl0 1", "nav3_human", "np_001019554", "glycoprotein", "nav3", "kiaa0938", "nedsfb", "pomfil1", "steerin3", "unc53h3" ] }, { "record_id": "MONDO:0976285", "record_type": "disease", "section": "proteins", "phraselist": [ "neuron", "navigator", "neuron navigator", "navigator 3", "neuron navigator 3", "pore", "membrane", "and/or", "filament", "interacting", "like", "protein", "pore membrane", "membrane and/or", "and/or filament", "filament interacting", "interacting like", "like protein", "protein 1", "pore membrane and/or", "membrane and/or filament", "and/or filament interacting", "filament interacting like", "interacting like protein", "like protein 1", "pore membrane and/or filament", "membrane and/or filament interacting", "and/or filament interacting like", "filament interacting like protein", "interacting like protein 1", "pore membrane and/or filament interacting", "membrane and/or filament interacting like", "and/or filament interacting like protein", "filament interacting like protein 1", "steerin", "steerin 3", "unc", "53", "homolog", "unc 53", "53 homolog", "homolog 3", "unc 53 homolog", "53 homolog 3", "unc 53 homolog 3", "isoform", "3 isoform", "isoform 1", "navigator 3 isoform", "3 isoform 1", "neuron navigator 3 isoform", "navigator 3 isoform 1", "neuron navigator 3 isoform 1", "unc53h3" ] }, { "record_id": "MONDO:0976286", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0976286", "0976286", "mim:621184", "621184" ] }, { "record_id": "MONDO:0976286", "record_type": "disease", "section": "disease_name", "phraselist": [ "tayoun", "maawali", "syndrome", "tayoun maawali", "maawali syndrome", "tayoun maawali syndrome" ] }, { "record_id": "MONDO:0976286", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0976286", "record_type": "disease", "section": "proteins", "phraselist": [ "q8nez5", "q8nez5 1", "fbx22_human", "np_036302", "glycoprotein", "fbxo22", "fbx22", "fistc1", "tymas" ] }, { "record_id": "MONDO:0976286", "record_type": "disease", "section": "proteins", "phraselist": [ "box", "only", "protein", "22", "f box", "box only", "only protein", "protein 22", "f box only", "box only protein", "only protein 22", "f box only protein", "box only protein 22", "f box only protein 22", "isoform", "22 isoform", "isoform b", "protein 22 isoform", "22 isoform b", "only protein 22 isoform", "protein 22 isoform b", "box only protein 22 isoform", "only protein 22 isoform b", "fbx22p44", "box protein", "protein fbx22p44", "f box protein", "box protein fbx22p44", "f box protein fbx22p44", "fist", "domain", "containing", "fist domain", "domain containing", "containing 1", "fist domain containing", "domain containing 1", "fist domain containing 1" ] }, { "record_id": "MONDO:0978291", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0978291", "0978291", "mim:301148", "301148" ] }, { "record_id": "MONDO:0978291", "record_type": "disease", "section": "disease_name", "phraselist": [ "retinitis", "pigmentosa", "99", "retinitis pigmentosa", "pigmentosa 99", "retinitis pigmentosa 99" ] }, { "record_id": "MONDO:0978291", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0978291", "record_type": "disease", "section": "proteins", "phraselist": [ "p51553", "p51553 1", "idh3g_human", "np_004126", "glycoprotein", "idh3g", "pdzd4", "idhg", "h idhg", "rp99" ] }, { "record_id": "MONDO:0978291", "record_type": "disease", "section": "proteins", "phraselist": [ "isocitrate", "dehydrogenase", "nad", "subunit", "gamma", "mitochondrial", "isocitrate dehydrogenase", "subunit gamma", "dehydrogenase nad", "nad subunit", "gamma mitochondrial", "isocitrate dehydrogenase nad", "nad subunit gamma", "subunit gamma mitochondrial", "dehydrogenase nad subunit", "idh", "idh gamma", "isocitric", "isocitric dehydrogenase", "dehydrogenase subunit", "isocitric dehydrogenase subunit", "dehydrogenase subunit gamma", "isocitric dehydrogenase subunit gamma", "specific", "specific isocitrate", "dehydrogenase gamma", "gamma subunit", "nad h", "h specific", "specific isocitrate dehydrogenase", "isocitrate dehydrogenase gamma", "dehydrogenase gamma subunit", "h specific isocitrate", "specific isocitrate dehydrogenase gamma", "isocitrate dehydrogenase gamma subunit", "nad h specific", "h specific isocitrate dehydrogenase", "specific isocitrate dehydrogenase gamma subunit", "icdh", "nad +", "specific icdh", "icdh subunit", "+ specific", "specific icdh subunit", "icdh subunit gamma", "nad + specific", "+ specific icdh", "specific icdh subunit gamma", "nad + specific icdh", "+ specific icdh subunit", "nad+", "nad+ specific", "nad+ specific icdh", "3 gamma", "dehydrogenase nad +", "+ 3", "isocitrate dehydrogenase nad +", "nad + 3", "+ 3 gamma", "dehydrogenase 3", "isocitrate dehydrogenase 3", "3 nad", "dehydrogenase 3 nad", "3 nad +", "+ gamma", "isocitrate dehydrogenase 3 nad", "dehydrogenase 3 nad +", "nad + gamma", "3 nad+", "nad+ gamma", "dehydrogenase 3 nad+", "isocitrate dehydrogenase 3 nad+", "3 nad+ gamma", "dehydrogenase 3 gamma", "isocitrate dehydrogenase 3 gamma", "isoform", "precursor", "mitochondrial isoform", "isoform a", "a precursor", "mitochondrial isoform a", "isoform a precursor", "gamma mitochondrial isoform", "mitochondrial isoform a precursor", "subunit gamma mitochondrial isoform", "gamma mitochondrial isoform a", "specific mitochondrial", "mitochondrial gamma", "mitochondrial gamma subunit", "+ specific mitochondrial", "specific mitochondrial gamma" ] }, { "record_id": "MONDO:0978293", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0978293", "0978293", "mim:621185", "621185" ] }, { "record_id": "MONDO:0978293", "record_type": "disease", "section": "disease_name", "phraselist": [ "houge", "janssens", "syndrome", "houge janssens", "janssens syndrome", "syndrome 4", "houge janssens syndrome", "janssens syndrome 4", "houge janssens syndrome 4" ] }, { "record_id": "MONDO:0978293", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0978293", "record_type": "disease", "section": "proteins", "phraselist": [ "q13362", "q13362 1", "2a5g_human", "np_001155197", "glycoprotein", "ppp2r5c", "b56g", "b56gamma", "hjs4", "kiaa0044", "pr61g" ] }, { "record_id": "MONDO:0978293", "record_type": "disease", "section": "proteins", "phraselist": [ "serine/threonine", "protein", "phosphatase", "2a", "56", "kda", "regulatory", "subunit", "gamma", "isoform", "serine/threonine protein", "protein phosphatase", "phosphatase 2a", "2a 56", "56 kda", "kda regulatory", "regulatory subunit", "subunit gamma", "gamma isoform", "serine/threonine protein phosphatase", "protein phosphatase 2a", "phosphatase 2a 56", "2a 56 kda", "56 kda regulatory", "kda regulatory subunit", "regulatory subunit gamma", "subunit gamma isoform", "serine/threonine protein phosphatase 2a", "protein phosphatase 2a 56", "phosphatase 2a 56 kda", "2a 56 kda regulatory", "56 kda regulatory subunit", "kda regulatory subunit gamma", "regulatory subunit gamma isoform", "serine/threonine protein phosphatase 2a 56", "protein phosphatase 2a 56 kda", "phosphatase 2a 56 kda regulatory", "2a 56 kda regulatory subunit", "56 kda regulatory subunit gamma", "kda regulatory subunit gamma isoform", "b'", "alpha", "b' alpha", "alpha regulatory", "b' alpha regulatory", "alpha regulatory subunit", "b' alpha regulatory subunit", "pp2a", "pp2a b", "b subunit", "subunit isoform", "isoform b'", "b' gamma", "pp2a b subunit", "b subunit isoform", "subunit isoform b'", "isoform b' gamma", "pp2a b subunit isoform", "b subunit isoform b'", "subunit isoform b' gamma", "pp2a b subunit isoform b'", "b subunit isoform b' gamma", "b56", "isoform b56", "b56 gamma", "subunit isoform b56", "isoform b56 gamma", "b subunit isoform b56", "subunit isoform b56 gamma", "pp2a b subunit isoform b56", "b subunit isoform b56 gamma", "pr61", "isoform pr61", "pr61 gamma", "subunit isoform pr61", "isoform pr61 gamma", "b subunit isoform pr61", "subunit isoform pr61 gamma", "pp2a b subunit isoform pr61", "b subunit isoform pr61 gamma", "r5", "isoform r5", "r5 gamma", "subunit isoform r5", "isoform r5 gamma", "b subunit isoform r5", "subunit isoform r5 gamma", "pp2a b subunit isoform r5", "b subunit isoform r5 gamma", "renal", "carcinoma", "antigen", "ny", "ren", "29", "renal carcinoma", "carcinoma antigen", "antigen ny", "ny ren", "ren 29", "renal carcinoma antigen", "carcinoma antigen ny", "antigen ny ren", "ny ren 29", "renal carcinoma antigen ny", "carcinoma antigen ny ren", "antigen ny ren 29", "renal carcinoma antigen ny ren", "carcinoma antigen ny ren 29", "phosphatase 2", "2 regulatory", "subunit b'", "protein phosphatase 2", "phosphatase 2 regulatory", "2 regulatory subunit", "regulatory subunit b'", "protein phosphatase 2 regulatory", "phosphatase 2 regulatory subunit", "2 regulatory subunit b'", "subunit b' gamma", "protein phosphatase 2 regulatory subunit", "phosphatase 2 regulatory subunit b'", "regulatory subunit b' gamma", "isoform isoform", "isoform e", "gamma isoform isoform", "isoform isoform e", "subunit gamma isoform isoform", "gamma isoform isoform e", "regulatory subunit gamma isoform isoform", "subunit gamma isoform isoform e" ] }, { "record_id": "MONDO:0978294", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0978294", "0978294", "mim:621191", "621191" ] }, { "record_id": "MONDO:0978294", "record_type": "disease", "section": "disease_name", "phraselist": [ "lsm7", "related", "leukodystrophy", "and", "cerebellar", "atrophy", "lsm7 related", "related leukodystrophy", "leukodystrophy and", "and cerebellar", "cerebellar atrophy", "lsm7 related leukodystrophy", "related leukodystrophy and", "leukodystrophy and cerebellar", "and cerebellar atrophy", "lsm7 related leukodystrophy and", "related leukodystrophy and cerebellar", "leukodystrophy and cerebellar atrophy", "lsm7 related leukodystrophy and cerebellar", "related leukodystrophy and cerebellar atrophy" ] }, { "record_id": "MONDO:0978294", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0978294", "record_type": "disease", "section": "proteins", "phraselist": [ "q9uk45", "q9uk45 1", "lsm7_human", "np_057283", "lsm7", "ldca", "ynl147w" ] }, { "record_id": "MONDO:0978294", "record_type": "disease", "section": "proteins", "phraselist": [ "u6", "snrna", "associated", "sm", "like", "protein", "lsm7", "u6 snrna", "snrna associated", "associated sm", "sm like", "like protein", "protein lsm7", "u6 snrna associated", "snrna associated sm", "associated sm like", "sm like protein", "like protein lsm7", "u6 snrna associated sm", "snrna associated sm like", "associated sm like protein", "sm like protein lsm7", "u6 snrna associated sm like", "snrna associated sm like protein", "associated sm like protein lsm7", "small", "nuclear", "rna", "and", "mrna", "degradation", "lsm7 u6", "u6 small", "small nuclear", "nuclear rna", "rna and", "and mrna", "mrna degradation", "degradation associated", "lsm7 u6 small", "u6 small nuclear", "small nuclear rna", "nuclear rna and", "rna and mrna", "and mrna degradation", "mrna degradation associated", "lsm7 u6 small nuclear", "u6 small nuclear rna", "small nuclear rna and", "nuclear rna and mrna", "rna and mrna degradation", "and mrna degradation associated", "lsm7 u6 small nuclear rna", "u6 small nuclear rna and", "small nuclear rna and mrna", "nuclear rna and mrna degradation", "rna and mrna degradation associated", "homolog", "lsm7 homolog", "rna associated", "homolog u6", "nuclear rna associated", "lsm7 homolog u6", "homolog u6 small", "small nuclear rna associated", "lsm7 homolog u6 small", "homolog u6 small nuclear", "u6 small nuclear rna associated" ] }, { "record_id": "MONDO:0978295", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0978295", "0978295", "mim:621192", "621192" ] }, { "record_id": "MONDO:0978295", "record_type": "disease", "section": "disease_name", "phraselist": [ "craniofaciocardiohepatic", "syndrome", "craniofaciocardiohepatic syndrome" ] }, { "record_id": "MONDO:0978295", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0978295", "record_type": "disease", "section": "proteins", "phraselist": [ "q8iy63", "q8iy63 1", "amol1_human", "np_001287936", "glycoprotein", "amotl1", "cfchs", "jeap" ] }, { "record_id": "MONDO:0978295", "record_type": "disease", "section": "proteins", "phraselist": [ "angiomotin", "like", "protein", "angiomotin like", "like protein", "protein 1", "angiomotin like protein", "like protein 1", "angiomotin like protein 1", "isoform", "1 isoform", "isoform 2", "protein 1 isoform", "1 isoform 2", "like protein 1 isoform", "protein 1 isoform 2", "angiomotin like protein 1 isoform", "like protein 1 isoform 2", "junction", "enriched", "and", "associated", "junction enriched", "enriched and", "and associated", "associated protein", "junction enriched and", "enriched and associated", "and associated protein", "junction enriched and associated", "enriched and associated protein", "junction enriched and associated protein" ] }, { "record_id": "MONDO:0978296", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0978296", "0978296", "mim:621193", "621193" ] }, { "record_id": "MONDO:0978296", "record_type": "disease", "section": "disease_name", "phraselist": [ "ficus", "syndrome", "ficus syndrome" ] }, { "record_id": "MONDO:0978296", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0978296", "record_type": "disease", "section": "proteins", "phraselist": [ "o15116", "o15116 1", "lsm1_human", "np_055277", "glycoprotein", "lsm1", "casm", "ficus", "yjl124c" ] }, { "record_id": "MONDO:0978296", "record_type": "disease", "section": "proteins", "phraselist": [ "u6", "snrna", "associated", "sm", "like", "protein", "lsm1", "u6 snrna", "snrna associated", "associated sm", "sm like", "like protein", "protein lsm1", "u6 snrna associated", "snrna associated sm", "associated sm like", "sm like protein", "like protein lsm1", "u6 snrna associated sm", "snrna associated sm like", "associated sm like protein", "sm like protein lsm1", "u6 snrna associated sm like", "snrna associated sm like protein", "associated sm like protein lsm1", "cancer", "cancer associated", "cancer associated sm", "cancer associated sm like", "homolog", "small", "nuclear", "rna", "lsm1 homolog", "u6 small", "small nuclear", "nuclear rna", "rna associated", "homolog u6", "u6 small nuclear", "small nuclear rna", "nuclear rna associated", "lsm1 homolog u6", "homolog u6 small", "u6 small nuclear rna", "small nuclear rna associated", "lsm1 homolog u6 small", "homolog u6 small nuclear", "u6 small nuclear rna associated", "mrna", "degradation", "lsm1 mrna", "mrna degradation", "degradation associated", "lsm1 mrna degradation", "mrna degradation associated", "lsm1 mrna degradation associated", "lsm1 u6", "lsm1 u6 small", "lsm1 u6 small nuclear", "lsm1 like", "protein u6", "lsm1 like protein", "like protein u6", "protein u6 small", "lsm1 like protein u6", "like protein u6 small", "protein u6 small nuclear", "lsm1 like protein u6 small", "like protein u6 small nuclear", "protein u6 small nuclear rna", "ribonuclear", "casm", "nuclear ribonuclear", "ribonuclear casm", "small nuclear ribonuclear", "nuclear ribonuclear casm", "small nuclear ribonuclear casm", "sm protein", "associated sm protein", "cancer associated sm protein", "cancer associated sm like protein" ] }, { "record_id": "MONDO:0978297", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0978297", "0978297", "mim:621194", "621194" ] }, { "record_id": "MONDO:0978297", "record_type": "disease", "section": "disease_name", "phraselist": [ "spermatogenic", "failure", "99", "spermatogenic failure", "failure 99", "spermatogenic failure 99" ] }, { "record_id": "MONDO:0978298", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0978298", "0978298", "mim:621195", "621195" ] }, { "record_id": "MONDO:0978298", "record_type": "disease", "section": "disease_name", "phraselist": [ "combined", "oxidative", "phosphorylation", "deficiency", "60", "combined oxidative", "oxidative phosphorylation", "phosphorylation deficiency", "deficiency 60", "combined oxidative phosphorylation", "oxidative phosphorylation deficiency", "phosphorylation deficiency 60", "combined oxidative phosphorylation deficiency", "oxidative phosphorylation deficiency 60", "combined oxidative phosphorylation deficiency 60" ] }, { "record_id": "MONDO:0978298", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0978298", "record_type": "disease", "section": "proteins", "phraselist": [ "q13405", "q13405 1", "rm49_human", "np_004918", "glycoprotein", "mrpl49", "c11orf4", "coxpd60", "l49mt", "mrp", "l49", "mrp l49", "nof1", "nof", "sw", "cl.67", "sw cl.67", "ml49" ] }, { "record_id": "MONDO:0978298", "record_type": "disease", "section": "proteins", "phraselist": [ "large", "ribosomal", "subunit", "protein", "ml49", "large ribosomal", "ribosomal subunit", "subunit protein", "protein ml49", "large ribosomal subunit", "ribosomal subunit protein", "subunit protein ml49", "large ribosomal subunit protein", "ribosomal subunit protein ml49", "large ribosomal subunit protein ml49", "39s", "l49", "mitochondrial", "39s ribosomal", "ribosomal protein", "protein l49", "39s ribosomal protein", "ribosomal protein l49", "l49 mitochondrial", "39s ribosomal protein l49", "protein l49 mitochondrial", "ribosomal protein l49 mitochondrial", "l49mt", "mrp", "mrp l49", "nof", "neighbor", "of", "fau", "neighbor of", "of fau", "neighbor of fau", "nof1", "protein nof1", "mitochondrial large", "mitochondrial large ribosomal", "mitochondrial large ribosomal subunit", "mitochondrial large ribosomal subunit protein", "next", "to", "next to", "to fau", "next to fau" ] }, { "record_id": "MONDO:0978299", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0978299", "0978299", "mim:621196", "621196" ] }, { "record_id": "MONDO:0978299", "record_type": "disease", "section": "disease_name", "phraselist": [ "maturity", "onset", "diabetes", "of", "the", "young", "type", "12", "maturity onset", "onset diabetes", "diabetes of", "of the", "the young", "type 12", "maturity onset diabetes", "onset diabetes of", "diabetes of the", "of the young", "young type", "maturity onset diabetes of", "onset diabetes of the", "diabetes of the young", "the young type", "young type 12", "maturity onset diabetes of the", "onset diabetes of the young", "of the young type", "the young type 12", "young 12", "the young 12", "of the young 12", "diabetes of the young 12" ] }, { "record_id": "MONDO:0978299", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0978299", "record_type": "disease", "section": "proteins", "phraselist": [ "q09428", "q09428 1", "abcc8_human", "np_000343", "glycoprotein", "abcc8", "abc36", "hhf1", "hi", "hrins", "mody12", "mrp8", "phhi", "pndm3", "sur1delta2", "sur1", "sur", "tndm2" ] }, { "record_id": "MONDO:0978299", "record_type": "disease", "section": "proteins", "phraselist": [ "atp", "binding", "cassette", "sub", "family", "member", "atp binding", "binding cassette", "cassette sub", "sub family", "family c", "c member", "member 8", "atp binding cassette", "binding cassette sub", "cassette sub family", "sub family c", "family c member", "c member 8", "atp binding cassette sub", "binding cassette sub family", "cassette sub family c", "sub family c member", "family c member 8", "atp binding cassette sub family", "binding cassette sub family c", "cassette sub family c member", "sub family c member 8", "isoform", "8 isoform", "isoform 2", "member 8 isoform", "8 isoform 2", "c member 8 isoform", "member 8 isoform 2", "family c member 8 isoform", "c member 8 isoform 2", "transporter", "cassette transporter", "transporter sub", "binding cassette transporter", "cassette transporter sub", "transporter sub family", "atp binding cassette transporter", "binding cassette transporter sub", "cassette transporter sub family", "transporter sub family c", "atp binding cassette transporter sub", "binding cassette transporter sub family", "cassette transporter sub family c", "transporter sub family c member", "cftr/mrp", "c cftr/mrp", "family c cftr/mrp", "cftr/mrp member", "sub family c cftr/mrp", "cftr/mrp member 8", "sulfonylurea", "receptor", "sulfonylurea receptor", "receptor 1", "sulfonylurea receptor 1", "hyperinsulinemia", "receptor hyperinsulinemia", "sulfonylurea receptor hyperinsulinemia" ] }, { "record_id": "MONDO:0978300", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0978300", "0978300", "mim:621199", "621199" ] }, { "record_id": "MONDO:0978300", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "ataxia", "and", "brain", "abnormalities", "neurodevelopmental disorder", "disorder with", "with ataxia", "ataxia and", "and brain", "brain abnormalities", "neurodevelopmental disorder with", "disorder with ataxia", "with ataxia and", "ataxia and brain", "and brain abnormalities", "neurodevelopmental disorder with ataxia", "disorder with ataxia and", "with ataxia and brain", "ataxia and brain abnormalities", "neurodevelopmental disorder with ataxia and", "disorder with ataxia and brain", "with ataxia and brain abnormalities" ] }, { "record_id": "MONDO:0978300", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0978300", "record_type": "disease", "section": "proteins", "phraselist": [ "q8wuk0", "q8wuk0 1", "ptpm1_human", "np_001137456", "glycoprotein", "ptpmt1", "dusp23", "mosp", "nedaxba", "plip", "pnas", "129", "pnas 129" ] }, { "record_id": "MONDO:0978300", "record_type": "disease", "section": "proteins", "phraselist": [ "phosphatidylglycerophosphatase", "and", "protein", "tyrosine", "phosphatase", "phosphatidylglycerophosphatase and", "and protein", "protein tyrosine", "tyrosine phosphatase", "phosphatase 1", "phosphatidylglycerophosphatase and protein", "and protein tyrosine", "protein tyrosine phosphatase", "tyrosine phosphatase 1", "phosphatidylglycerophosphatase and protein tyrosine", "and protein tyrosine phosphatase", "protein tyrosine phosphatase 1", "phosphatidylglycerophosphatase and protein tyrosine phosphatase", "and protein tyrosine phosphatase 1", "3.1.3.16", "3.1.3.27", "3.1.3.48", "nb4", "apoptosis/differentiation", "related", "nb4 apoptosis/differentiation", "apoptosis/differentiation related", "related protein", "nb4 apoptosis/differentiation related", "apoptosis/differentiation related protein", "nb4 apoptosis/differentiation related protein", "pten", "like", "pten like", "like phosphatase", "pten like phosphatase", "phosphoinositide", "lipid", "phosphoinositide lipid", "lipid phosphatase", "phosphoinositide lipid phosphatase", "mitochondrial", "phosphatase mitochondrial", "mitochondrial 1", "tyrosine phosphatase mitochondrial", "phosphatase mitochondrial 1", "protein tyrosine phosphatase mitochondrial", "tyrosine phosphatase mitochondrial 1", "protein tyrosine phosphatase mitochondrial 1", "isoform", "1 isoform", "isoform 2", "phosphatase 1 isoform", "1 isoform 2", "tyrosine phosphatase 1 isoform", "phosphatase 1 isoform 2", "protein tyrosine phosphatase 1 isoform", "tyrosine phosphatase 1 isoform 2" ] }, { "record_id": "MONDO:0978301", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0978301", "0978301", "mim:621201", "621201" ] }, { "record_id": "MONDO:0978301", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "dysmorphic", "facies", "brain", "anomalies", "and", "seizures", "neurodevelopmental disorder", "disorder with", "with dysmorphic", "dysmorphic facies", "brain anomalies", "and seizures", "neurodevelopmental disorder with", "disorder with dysmorphic", "with dysmorphic facies", "facies brain", "anomalies and", "neurodevelopmental disorder with dysmorphic", "disorder with dysmorphic facies", "dysmorphic facies brain", "facies brain anomalies", "brain anomalies and", "anomalies and seizures", "neurodevelopmental disorder with dysmorphic facies", "with dysmorphic facies brain", "dysmorphic facies brain anomalies", "brain anomalies and seizures" ] }, { "record_id": "MONDO:0978301", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0978301", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y5q9", "q9y5q9 1", "tf3c3_human", "np_001193703", "glycoprotein", "gtf3c3", "nedfbs", "tfiiic102", "tfiiicgamma", "tfiiic2", "102", "tfiiic2 102" ] }, { "record_id": "MONDO:0978301", "record_type": "disease", "section": "proteins", "phraselist": [ "general", "transcription", "factor", "3c", "polypeptide", "general transcription", "transcription factor", "factor 3c", "3c polypeptide", "polypeptide 3", "general transcription factor", "transcription factor 3c", "factor 3c polypeptide", "3c polypeptide 3", "general transcription factor 3c", "transcription factor 3c polypeptide", "factor 3c polypeptide 3", "general transcription factor 3c polypeptide", "transcription factor 3c polypeptide 3", "tf3c", "gamma", "tf3c gamma", "tfiiic", "102", "kda", "subunit", "tfiiic 102", "102 kda", "kda subunit", "tfiiic 102 kda", "102 kda subunit", "tfiiic 102 kda subunit", "tfiiic102", "iiic", "factor iiic", "iiic 102", "transcription factor iiic", "factor iiic 102", "iiic 102 kda", "transcription factor iiic 102", "factor iiic 102 kda", "iiic 102 kda subunit", "transcription factor iiic 102 kda", "factor iiic 102 kda subunit", "iiic subunit", "subunit gamma", "factor iiic subunit", "iiic subunit gamma", "transcription factor iiic subunit", "factor iiic subunit gamma", "transcription factor iiic subunit gamma", "isoform", "3 isoform", "isoform 2", "polypeptide 3 isoform", "3 isoform 2", "3c polypeptide 3 isoform", "polypeptide 3 isoform 2", "factor 3c polypeptide 3 isoform", "3c polypeptide 3 isoform 2", "102kda", "iiic polypeptide", "3 102kda", "general transcription factor iiic", "factor iiic polypeptide", "iiic polypeptide 3", "polypeptide 3 102kda", "transcription factor iiic polypeptide", "factor iiic polypeptide 3" ] }, { "record_id": "MONDO:0978302", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0978302", "0978302", "mim:621209", "621209" ] }, { "record_id": "MONDO:0978302", "record_type": "disease", "section": "disease_name", "phraselist": [ "spermatogenic", "failure", "100", "spermatogenic failure", "failure 100", "spermatogenic failure 100" ] }, { "record_id": "MONDO:0978303", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0978303", "0978303", "mim:621212", "621212" ] }, { "record_id": "MONDO:0978303", "record_type": "disease", "section": "disease_name", "phraselist": [ "li", "takada", "miyake", "syndrome", "li takada", "takada miyake", "miyake syndrome", "li takada miyake", "takada miyake syndrome", "li takada miyake syndrome" ] }, { "record_id": "MONDO:0978303", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0978303", "record_type": "disease", "section": "proteins", "phraselist": [ "q3t8j9", "q3t8j9 1", "gon4l_human", "np_001269785", "glycoprotein", "gon4l", "gon", "gon 4", "gon4", "kiaa1606", "ltms", "yarp" ] }, { "record_id": "MONDO:0978303", "record_type": "disease", "section": "proteins", "phraselist": [ "gon", "like", "protein", "gon 4", "4 like", "like protein", "gon 4 like", "4 like protein", "gon 4 like protein", "2610100b20rik", "homolog", "4 homolog", "gon 4 homolog", "isoform", "protein isoform", "isoform c", "like protein isoform", "protein isoform c", "4 like protein isoform", "like protein isoform c", "gon 4 like protein isoform", "4 like protein isoform c", "yy1ap", "related", "yy1ap related", "related protein", "yy1ap related protein", "protein1", "related protein1", "yy1ap related protein1", "yin", "yang", "associated", "yin yang", "yang 1", "1 associated", "associated related", "yin yang 1", "yang 1 associated", "1 associated related", "associated related protein", "yin yang 1 associated", "yang 1 associated related", "1 associated related protein", "yin yang 1 associated related", "yang 1 associated related protein" ] }, { "record_id": "MONDO:0979226", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979226", "0979226", "mim:621214", "621214" ] }, { "record_id": "MONDO:0979226", "record_type": "disease", "section": "disease_name", "phraselist": [ "leukodystrophy", "adult", "onset", "autosomal", "dominant", "without", "amyloid", "angiopathy", "adult onset", "autosomal dominant", "without amyloid", "amyloid angiopathy", "leukodystrophy adult", "onset autosomal", "dominant without", "without amyloid angiopathy", "leukodystrophy adult onset", "adult onset autosomal", "onset autosomal dominant", "autosomal dominant without", "dominant without amyloid", "adult onset autosomal dominant", "autosomal dominant without amyloid", "dominant without amyloid angiopathy" ] }, { "record_id": "MONDO:0979226", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979226", "record_type": "disease", "section": "proteins", "phraselist": [ "p01034", "p01034 1", "cytc_human", "np_000090", "cst3", "adldwa", "armd11", "hel", "hel s", "s 2", "hel s 2" ] }, { "record_id": "MONDO:0979226", "record_type": "disease", "section": "proteins", "phraselist": [ "cystatin", "cystatin c", "cystatin 3", "gamma", "trace", "gamma trace", "neuroendocrine", "basic", "polypeptide", "neuroendocrine basic", "basic polypeptide", "neuroendocrine basic polypeptide", "post", "globulin", "post gamma", "gamma globulin", "post gamma globulin", "ba218c14.4", "ba218c14.4 cystatin", "ba218c14.4 cystatin c", "precursor", "c precursor", "cystatin c precursor", "epididymis", "secretory", "protein", "li", "epididymis secretory", "secretory protein", "protein li", "li 2", "epididymis secretory protein", "secretory protein li", "protein li 2", "epididymis secretory protein li", "secretory protein li 2", "epididymis secretory protein li 2" ] }, { "record_id": "MONDO:0979227", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979227", "0979227", "mim:621220", "621220" ] }, { "record_id": "MONDO:0979227", "record_type": "disease", "section": "disease_name", "phraselist": [ "guillouet", "gordon", "syndrome", "guillouet gordon", "gordon syndrome", "guillouet gordon syndrome" ] }, { "record_id": "MONDO:0979227", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979227", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y2x0", "q9y2x0 1", "med16_human", "np_005472", "glycoprotein", "med16", "drip92", "ggns", "thrap5", "trap95" ] }, { "record_id": "MONDO:0979227", "record_type": "disease", "section": "proteins", "phraselist": [ "mediator", "of", "rna", "polymerase", "ii", "transcription", "subunit", "16", "mediator of", "of rna", "rna polymerase", "polymerase ii", "ii transcription", "transcription subunit", "subunit 16", "mediator of rna", "of rna polymerase", "rna polymerase ii", "polymerase ii transcription", "ii transcription subunit", "transcription subunit 16", "mediator of rna polymerase", "of rna polymerase ii", "rna polymerase ii transcription", "polymerase ii transcription subunit", "ii transcription subunit 16", "mediator of rna polymerase ii", "of rna polymerase ii transcription", "rna polymerase ii transcription subunit", "polymerase ii transcription subunit 16", "drip92", "complex", "mediator complex", "complex subunit", "mediator complex subunit", "complex subunit 16", "mediator complex subunit 16", "thyroid", "hormone", "receptor", "associated", "protein", "thyroid hormone", "hormone receptor", "receptor associated", "associated protein", "protein 5", "thyroid hormone receptor", "hormone receptor associated", "receptor associated protein", "associated protein 5", "thyroid hormone receptor associated", "hormone receptor associated protein", "receptor associated protein 5", "thyroid hormone receptor associated protein", "hormone receptor associated protein 5", "95", "kda", "component", "protein complex", "complex 95", "95 kda", "kda component", "associated protein complex", "protein complex 95", "complex 95 kda", "95 kda component", "receptor associated protein complex", "associated protein complex 95", "protein complex 95 kda", "complex 95 kda component", "hormone receptor associated protein complex", "receptor associated protein complex 95", "associated protein complex 95 kda", "protein complex 95 kda component", "trap95", "vitamin", "d3", "interacting", "92", "vitamin d3", "d3 receptor", "receptor interacting", "interacting protein", "complex 92", "92 kda", "vitamin d3 receptor", "d3 receptor interacting", "receptor interacting protein", "interacting protein complex", "protein complex 92", "complex 92 kda", "92 kda component", "vitamin d3 receptor interacting", "d3 receptor interacting protein", "receptor interacting protein complex", "interacting protein complex 92", "protein complex 92 kda", "complex 92 kda component", "vitamin d3 receptor interacting protein", "d3 receptor interacting protein complex", "receptor interacting protein complex 92", "interacting protein complex 92 kda", "protein complex 92 kda component", "kd", "95 kd", "kd subunit", "protein 95", "95 kd subunit", "associated protein 95", "protein 95 kd", "receptor associated protein 95", "associated protein 95 kd", "protein 95 kd subunit" ] }, { "record_id": "MONDO:0979228", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979228", "0979228", "mim:621224", "621224" ] }, { "record_id": "MONDO:0979228", "record_type": "disease", "section": "disease_name", "phraselist": [ "ectodermal", "dysplasia", "17", "with", "or", "without", "limb", "malformations", "ectodermal dysplasia", "dysplasia 17", "17 with", "with or", "or without", "without limb", "limb malformations", "ectodermal dysplasia 17", "dysplasia 17 with", "17 with or", "with or without", "or without limb", "without limb malformations", "ectodermal dysplasia 17 with", "dysplasia 17 with or", "17 with or without", "with or without limb", "or without limb malformations", "ectodermal dysplasia 17 with or", "dysplasia 17 with or without", "17 with or without limb", "with or without limb malformations" ] }, { "record_id": "MONDO:0979228", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979228", "record_type": "disease", "section": "proteins", "phraselist": [ "q9uju2", "q9uju2 1", "lef1_human", "np_001124185", "glycoprotein", "lef1", "ectd17", "ectd1", "lef", "lef 1", "tcf10", "tcf1alpha", "tcf7l3" ] }, { "record_id": "MONDO:0979228", "record_type": "disease", "section": "proteins", "phraselist": [ "lymphoid", "enhancer", "binding", "factor", "lymphoid enhancer", "enhancer binding", "binding factor", "factor 1", "lymphoid enhancer binding", "enhancer binding factor", "binding factor 1", "lymphoid enhancer binding factor", "enhancer binding factor 1", "lymphoid enhancer binding factor 1", "lef", "lef 1", "cell", "specific", "transcription", "alpha", "t cell", "cell specific", "specific transcription", "transcription factor", "1 alpha", "t cell specific", "cell specific transcription", "specific transcription factor", "transcription factor 1", "factor 1 alpha", "t cell specific transcription", "cell specific transcription factor", "specific transcription factor 1", "transcription factor 1 alpha", "t cell specific transcription factor", "cell specific transcription factor 1", "specific transcription factor 1 alpha", "tcf1", "tcf1 alpha", "isoform", "1 isoform", "isoform 2", "factor 1 isoform", "1 isoform 2", "binding factor 1 isoform", "factor 1 isoform 2", "enhancer binding factor 1 isoform", "binding factor 1 isoform 2" ] }, { "record_id": "MONDO:0979230", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979230", "0979230", "mim:621226", "621226" ] }, { "record_id": "MONDO:0979230", "record_type": "disease", "section": "disease_name", "phraselist": [ "spastic", "ataxia", "11", "autosomal", "dominant", "spastic ataxia", "ataxia 11", "autosomal dominant", "spastic ataxia 11", "11 autosomal", "ataxia 11 autosomal", "11 autosomal dominant", "spastic ataxia 11 autosomal", "ataxia 11 autosomal dominant" ] }, { "record_id": "MONDO:0979230", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979230", "record_type": "disease", "section": "proteins", "phraselist": [ "p68366", "p68366 1", "tba4a_human", "np_001265481", "glycoprotein", "tuba4a", "als22", "cmyo26", "ftdals9", "h2", "alpha", "h2 alpha", "ozema23", "spax11", "tuba1" ] }, { "record_id": "MONDO:0979230", "record_type": "disease", "section": "proteins", "phraselist": [ "tubulin", "alpha", "4a", "chain", "tubulin alpha", "alpha 4a", "4a chain", "tubulin alpha 4a", "alpha 4a chain", "tubulin alpha 4a chain", "3.6.5.", "alpha tubulin", "tubulin 1", "alpha tubulin 1", "testis", "specific", "testis specific", "specific alpha", "testis specific alpha", "specific alpha tubulin", "testis specific alpha tubulin", "h2", "tubulin h2", "h2 alpha", "tubulin h2 alpha", "alpha 1", "1 chain", "tubulin alpha 1", "alpha 1 chain", "tubulin alpha 1 chain", "isoform", "chain isoform", "isoform 2", "4a chain isoform", "chain isoform 2", "alpha 4a chain isoform", "4a chain isoform 2", "tubulin alpha 4a chain isoform", "alpha 4a chain isoform 2", "1 testis", "alpha 1 testis", "1 testis specific", "alpha 1 testis specific" ] }, { "record_id": "MONDO:0979231", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979231", "0979231", "mim:621231", "621231" ] }, { "record_id": "MONDO:0979231", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte/zygote/embryo", "maturation", "arrest", "23", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 23", "oocyte/zygote/embryo maturation arrest", "maturation arrest 23", "oocyte/zygote/embryo maturation arrest 23" ] }, { "record_id": "MONDO:0979231", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979231", "record_type": "disease", "section": "proteins", "phraselist": [ "p68366", "p68366 1", "tba4a_human", "np_001265481", "glycoprotein", "tuba4a", "als22", "cmyo26", "ftdals9", "h2", "alpha", "h2 alpha", "ozema23", "spax11", "tuba1" ] }, { "record_id": "MONDO:0979231", "record_type": "disease", "section": "proteins", "phraselist": [ "tubulin", "alpha", "4a", "chain", "tubulin alpha", "alpha 4a", "4a chain", "tubulin alpha 4a", "alpha 4a chain", "tubulin alpha 4a chain", "3.6.5.", "alpha tubulin", "tubulin 1", "alpha tubulin 1", "testis", "specific", "testis specific", "specific alpha", "testis specific alpha", "specific alpha tubulin", "testis specific alpha tubulin", "h2", "tubulin h2", "h2 alpha", "tubulin h2 alpha", "alpha 1", "1 chain", "tubulin alpha 1", "alpha 1 chain", "tubulin alpha 1 chain", "isoform", "chain isoform", "isoform 2", "4a chain isoform", "chain isoform 2", "alpha 4a chain isoform", "4a chain isoform 2", "tubulin alpha 4a chain isoform", "alpha 4a chain isoform 2", "1 testis", "alpha 1 testis", "1 testis specific", "alpha 1 testis specific" ] }, { "record_id": "MONDO:0979232", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979232", "0979232", "mim:621232", "621232" ] }, { "record_id": "MONDO:0979232", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte/zygote/embryo", "maturation", "arrest", "24", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 24", "oocyte/zygote/embryo maturation arrest", "maturation arrest 24", "oocyte/zygote/embryo maturation arrest 24" ] }, { "record_id": "MONDO:0979232", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979232", "record_type": "disease", "section": "proteins", "phraselist": [ "q9bqe3", "q9bqe3 1", "tba1c_human", "np_116093", "glycoprotein", "tuba1c", "ozema24", "tuba6", "bcm948" ] }, { "record_id": "MONDO:0979232", "record_type": "disease", "section": "proteins", "phraselist": [ "tubulin", "alpha", "1c", "chain", "tubulin alpha", "alpha 1c", "1c chain", "tubulin alpha 1c", "alpha 1c chain", "tubulin alpha 1c chain", "3.6.5.", "alpha tubulin", "tubulin 6", "alpha tubulin 6", "alpha 6", "6 chain", "tubulin alpha 6", "alpha 6 chain", "tubulin alpha 6 chain", "isoform", "chain isoform", "isoform c", "1c chain isoform", "chain isoform c", "alpha 1c chain isoform", "1c chain isoform c", "tubulin alpha 1c chain isoform", "alpha 1c chain isoform c" ] }, { "record_id": "MONDO:0979233", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979233", "0979233", "mim:621233", "621233" ] }, { "record_id": "MONDO:0979233", "record_type": "disease", "section": "disease_name", "phraselist": [ "immunodysregulation", "with", "variable", "immunodeficiency", "and", "autoimmunity", "immunodysregulation with", "with variable", "variable immunodeficiency", "immunodeficiency and", "and autoimmunity", "immunodysregulation with variable", "with variable immunodeficiency", "variable immunodeficiency and", "immunodeficiency and autoimmunity", "immunodysregulation with variable immunodeficiency", "with variable immunodeficiency and", "variable immunodeficiency and autoimmunity", "immunodysregulation with variable immunodeficiency and", "with variable immunodeficiency and autoimmunity" ] }, { "record_id": "MONDO:0979233", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979233", "record_type": "disease", "section": "proteins", "phraselist": [ "q9uks7", "q9uks7 1", "ikzf2_human", "np_001072994", "glycoprotein", "ikzf2", "anf1a2", "helios", "ichad", "imdia", "znf1a2", "znfn1a2" ] }, { "record_id": "MONDO:0979233", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "protein", "helios", "zinc finger", "finger protein", "protein helios", "zinc finger protein", "finger protein helios", "zinc finger protein helios", "ikaros", "family", "ikaros family", "family zinc", "protein 2", "ikaros family zinc", "family zinc finger", "finger protein 2", "ikaros family zinc finger", "family zinc finger protein", "zinc finger protein 2", "ikaros family zinc finger protein", "family zinc finger protein 2", "dna", "binding", "finger dna", "dna binding", "binding protein", "zinc finger dna", "finger dna binding", "dna binding protein", "binding protein helios", "zinc finger dna binding", "finger dna binding protein", "dna binding protein helios", "zinc finger dna binding protein", "finger dna binding protein helios", "isoform", "helios isoform", "isoform 2", "protein helios isoform", "helios isoform 2", "finger protein helios isoform", "protein helios isoform 2", "zinc finger protein helios isoform", "finger protein helios isoform 2", "subfamily", "1a", "subfamily 1a", "protein subfamily", "1a 2", "2 helios", "finger protein subfamily", "protein subfamily 1a", "subfamily 1a 2", "zinc finger protein subfamily", "finger protein subfamily 1a", "1a 2 helios" ] }, { "record_id": "MONDO:0979234", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979234", "0979234", "mim:621234", "621234" ] }, { "record_id": "MONDO:0979234", "record_type": "disease", "section": "disease_name", "phraselist": [ "ichad", "syndrome", "ichad syndrome" ] }, { "record_id": "MONDO:0979234", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979234", "record_type": "disease", "section": "proteins", "phraselist": [ "q9uks7", "q9uks7 1", "ikzf2_human", "np_001072994", "glycoprotein", "ikzf2", "anf1a2", "helios", "ichad", "imdia", "znf1a2", "znfn1a2" ] }, { "record_id": "MONDO:0979234", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "protein", "helios", "zinc finger", "finger protein", "protein helios", "zinc finger protein", "finger protein helios", "zinc finger protein helios", "ikaros", "family", "ikaros family", "family zinc", "protein 2", "ikaros family zinc", "family zinc finger", "finger protein 2", "ikaros family zinc finger", "family zinc finger protein", "zinc finger protein 2", "ikaros family zinc finger protein", "family zinc finger protein 2", "dna", "binding", "finger dna", "dna binding", "binding protein", "zinc finger dna", "finger dna binding", "dna binding protein", "binding protein helios", "zinc finger dna binding", "finger dna binding protein", "dna binding protein helios", "zinc finger dna binding protein", "finger dna binding protein helios", "isoform", "helios isoform", "isoform 2", "protein helios isoform", "helios isoform 2", "finger protein helios isoform", "protein helios isoform 2", "zinc finger protein helios isoform", "finger protein helios isoform 2", "subfamily", "1a", "subfamily 1a", "protein subfamily", "1a 2", "2 helios", "finger protein subfamily", "protein subfamily 1a", "subfamily 1a 2", "zinc finger protein subfamily", "finger protein subfamily 1a", "1a 2 helios" ] }, { "record_id": "MONDO:0979236", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979236", "0979236", "mim:621237", "621237" ] }, { "record_id": "MONDO:0979236", "record_type": "disease", "section": "disease_name", "phraselist": [ "cardiomyopathy", "dilated", "2l", "cardiomyopathy dilated", "dilated 2l", "cardiomyopathy dilated 2l" ] }, { "record_id": "MONDO:0979236", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979236", "record_type": "disease", "section": "proteins", "phraselist": [ "o75112", "o75112 1", "ldb3_human", "np_001073583", "glycoprotein", "ldb3", "cmd1c", "cmd2l", "cmh24", "cmpd3", "cypher", "kiaa0613", "ldb3z1", "ldb3z4", "lvnc3", "mfm4", "oracle", "pdlim6", "zasp" ] }, { "record_id": "MONDO:0979236", "record_type": "disease", "section": "proteins", "phraselist": [ "lim", "domain", "binding", "protein", "lim domain", "domain binding", "binding protein", "protein 3", "lim domain binding", "domain binding protein", "binding protein 3", "lim domain binding protein", "domain binding protein 3", "lim domain binding protein 3", "isoform", "3 isoform", "isoform 2", "protein 3 isoform", "3 isoform 2", "binding protein 3 isoform", "protein 3 isoform 2", "domain binding protein 3 isoform", "binding protein 3 isoform 2", "pdz", "and", "pdz and", "and lim", "domain 6", "pdz and lim", "and lim domain", "lim domain 6", "pdz and lim domain", "and lim domain 6", "pdz and lim domain 6", "cypher", "protein cypher", "band", "alternatively", "spliced", "motif", "z band", "band alternatively", "alternatively spliced", "spliced pdz", "pdz motif", "motif protein", "z band alternatively", "band alternatively spliced", "alternatively spliced pdz", "spliced pdz motif", "pdz motif protein", "z band alternatively spliced", "band alternatively spliced pdz", "alternatively spliced pdz motif", "spliced pdz motif protein", "z band alternatively spliced pdz", "band alternatively spliced pdz motif", "alternatively spliced pdz motif protein", "cardiomyopathy", "dilated", "1c", "autosomal", "dominant", "dilated 1c", "autosomal dominant", "cardiomyopathy dilated", "1c autosomal", "cardiomyopathy dilated 1c", "dilated 1c autosomal", "1c autosomal dominant", "dilated 1c autosomal dominant" ] }, { "record_id": "MONDO:0979237", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979237", "0979237", "mim:621248", "621248" ] }, { "record_id": "MONDO:0979237", "record_type": "disease", "section": "disease_name", "phraselist": [ "pulmonary", "hypertension", "primary", "pulmonary hypertension", "hypertension primary", "primary 7", "pulmonary hypertension primary", "hypertension primary 7" ] }, { "record_id": "MONDO:0979237", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979237", "record_type": "disease", "section": "proteins", "phraselist": [ "q9h6i2", "q9h6i2 1", "sox17_human", "np_071899", "glycoprotein", "sox17", "pph7", "vur3" ] }, { "record_id": "MONDO:0979237", "record_type": "disease", "section": "proteins", "phraselist": [ "transcription", "factor", "sox", "17", "transcription factor", "factor sox", "sox 17", "transcription factor sox", "factor sox 17", "transcription factor sox 17", "sry", "sex", "determining", "region", "box", "sex determining", "determining region", "region y", "box 17", "sry sex", "sex determining region", "determining region y", "y box", "sry sex determining", "sex determining region y", "region y box", "y box 17", "sry sex determining region", "determining region y box", "region y box 17", "sry box", "sry box 17", "related", "hmg", "sox17", "sry related", "related hmg", "hmg box", "box transcription", "factor sox17", "sry related hmg", "related hmg box", "hmg box transcription", "box transcription factor", "transcription factor sox17", "sry related hmg box", "related hmg box transcription", "hmg box transcription factor", "box transcription factor sox17", "sry related hmg box transcription", "related hmg box transcription factor", "hmg box transcription factor sox17" ] }, { "record_id": "MONDO:0979239", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979239", "0979239", "mim:621251", "621251" ] }, { "record_id": "MONDO:0979239", "record_type": "disease", "section": "disease_name", "phraselist": [ "cardiomyopathy", "dilated", "1qq", "cardiomyopathy dilated", "dilated 1qq", "cardiomyopathy dilated 1qq" ] }, { "record_id": "MONDO:0979239", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979239", "record_type": "disease", "section": "proteins", "phraselist": [ "q711q0", "q711q0 1", "cefip_human", "np_001128668", "glycoprotein", "cefip", "c10orf71", "cmd1qq" ] }, { "record_id": "MONDO:0979239", "record_type": "disease", "section": "proteins", "phraselist": [ "cardiac", "enriched", "fhl2", "interacting", "protein", "cardiac enriched", "enriched fhl2", "fhl2 interacting", "interacting protein", "cardiac enriched fhl2", "enriched fhl2 interacting", "fhl2 interacting protein", "cardiac enriched fhl2 interacting", "enriched fhl2 interacting protein", "cardiac enriched fhl2 interacting protein", "uncharacterized", "c10orf71", "uncharacterized protein", "protein c10orf71", "uncharacterized protein c10orf71" ] }, { "record_id": "MONDO:0979240", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979240", "0979240", "mim:621252", "621252" ] }, { "record_id": "MONDO:0979240", "record_type": "disease", "section": "disease_name", "phraselist": [ "cataract", "alopecia", "oral", "mucosal", "disorder", "and", "psoriasis", "like", "syndrome", "oral mucosal", "mucosal disorder", "and psoriasis", "psoriasis like", "like syndrome", "cataract alopecia", "alopecia oral", "oral mucosal disorder", "disorder and", "and psoriasis like", "psoriasis like syndrome", "alopecia oral mucosal", "mucosal disorder and", "disorder and psoriasis", "and psoriasis like syndrome", "cataract alopecia oral", "alopecia oral mucosal disorder", "oral mucosal disorder and", "mucosal disorder and psoriasis", "disorder and psoriasis like" ] }, { "record_id": "MONDO:0979240", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979240", "record_type": "disease", "section": "proteins", "phraselist": [ "q14703", "q14703 1", "mbtp1_human", "np_003782", "glycoprotein", "mbtps1", "caop", "kiaa0091", "pcsk8", "s1p", "sedkf", "ski", "ski 1", "ski1" ] }, { "record_id": "MONDO:0979240", "record_type": "disease", "section": "proteins", "phraselist": [ "membrane", "bound", "transcription", "factor", "site", "protease", "membrane bound", "bound transcription", "transcription factor", "factor site", "site 1", "1 protease", "membrane bound transcription", "bound transcription factor", "transcription factor site", "factor site 1", "site 1 protease", "membrane bound transcription factor", "bound transcription factor site", "transcription factor site 1", "factor site 1 protease", "membrane bound transcription factor site", "bound transcription factor site 1", "transcription factor site 1 protease", "3.4.21.112", "endopeptidase", "s1p", "endopeptidase s1p", "ski", "ski 1", "subtilisin/kexin", "isozyme", "subtilisin/kexin isozyme", "isozyme 1", "subtilisin/kexin isozyme 1", "preproprotein", "protease preproprotein", "1 protease preproprotein", "site 1 protease preproprotein", "factor site 1 protease preproprotein", "proprotein", "convertase", "type", "proprotein convertase", "convertase subtilisin/kexin", "subtilisin/kexin type", "type 8", "proprotein convertase subtilisin/kexin", "convertase subtilisin/kexin type", "subtilisin/kexin type 8", "proprotein convertase subtilisin/kexin type", "convertase subtilisin/kexin type 8", "proprotein convertase subtilisin/kexin type 8" ] }, { "record_id": "MONDO:0979241", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979241", "0979241", "mim:621258", "621258" ] }, { "record_id": "MONDO:0979241", "record_type": "disease", "section": "disease_name", "phraselist": [ "fanconi", "anemia", "complementation", "group", "10", "fanconi anemia", "complementation group", "group 10", "anemia complementation", "complementation group 10", "fanconi anemia complementation", "anemia complementation group", "fanconi anemia complementation group", "anemia complementation group 10", "group x", "complementation group x", "anemia complementation group x" ] }, { "record_id": "MONDO:0979241", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979241", "record_type": "disease", "section": "proteins", "phraselist": [ "q0vg06", "q0vg06 1", "fp100_human", "np_079437", "glycoprotein", "faap100", "c17orf70", "fancx" ] }, { "record_id": "MONDO:0979241", "record_type": "disease", "section": "proteins", "phraselist": [ "fanconi", "anemia", "core", "complex", "associated", "protein", "100", "fanconi anemia", "anemia core", "core complex", "complex associated", "associated protein", "protein 100", "fanconi anemia core", "anemia core complex", "core complex associated", "complex associated protein", "associated protein 100", "fanconi anemia core complex", "anemia core complex associated", "core complex associated protein", "complex associated protein 100", "fanconi anemia core complex associated", "anemia core complex associated protein", "core complex associated protein 100", "kda", "subunit", "anemia associated", "100 kda", "kda subunit", "fanconi anemia associated", "anemia associated protein", "protein 100 kda", "100 kda subunit", "fanconi anemia associated protein", "anemia associated protein 100", "associated protein 100 kda", "protein 100 kda subunit", "fanconi anemia associated protein 100", "anemia associated protein 100 kda", "associated protein 100 kda subunit", "complex 100", "core complex 100", "complex 100 kda", "anemia core complex 100", "core complex 100 kda", "complex 100 kda subunit", "fanconi anemia core complex 100", "anemia core complex 100 kda", "core complex 100 kda subunit", "isoform", "100 isoform", "isoform b", "protein 100 isoform", "100 isoform b", "associated protein 100 isoform", "protein 100 isoform b", "complex associated protein 100 isoform", "associated protein 100 isoform b", "of", "protein of", "of 100", "associated protein of", "protein of 100", "of 100 kda", "anemia associated protein of", "associated protein of 100", "protein of 100 kda", "fanconi anemia associated protein of", "anemia associated protein of 100", "associated protein of 100 kda", "100kda", "protein 100kda", "associated protein 100kda", "anemia associated protein 100kda" ] }, { "record_id": "MONDO:0979242", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979242", "0979242", "mim:621260", "621260" ] }, { "record_id": "MONDO:0979242", "record_type": "disease", "section": "disease_name", "phraselist": [ "short", "rib", "thoracic", "dysplasia", "22", "without", "polydactyly", "short rib", "rib thoracic", "thoracic dysplasia", "dysplasia 22", "22 without", "without polydactyly", "short rib thoracic", "rib thoracic dysplasia", "thoracic dysplasia 22", "dysplasia 22 without", "22 without polydactyly", "short rib thoracic dysplasia", "rib thoracic dysplasia 22", "thoracic dysplasia 22 without", "dysplasia 22 without polydactyly", "short rib thoracic dysplasia 22", "rib thoracic dysplasia 22 without", "thoracic dysplasia 22 without polydactyly", "dysostosis", "isolated", "thoracic dysostosis", "dysostosis isolated", "thoracic dysostosis isolated" ] }, { "record_id": "MONDO:0979242", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979242", "record_type": "disease", "section": "proteins", "phraselist": [ "p08620", "p08620 1", "fgf4_human", "np_001998", "glycoprotein", "fgf4", "fgf", "fgf 4", "hbgf", "hbgf 4", "hst", "hst 1", "hstf", "hstf 1", "hstf1", "k fgf", "kfgf", "ks3", "srtd22" ] }, { "record_id": "MONDO:0979242", "record_type": "disease", "section": "proteins", "phraselist": [ "fibroblast", "growth", "factor", "fibroblast growth", "growth factor", "factor 4", "fibroblast growth factor", "growth factor 4", "fibroblast growth factor 4", "fgf", "fgf 4", "hbgf", "hbgf 4", "hst", "hst 1", "hstf", "hstf 1", "heparin", "secretory", "transforming", "protein", "heparin secretory", "secretory transforming", "transforming protein", "protein 1", "heparin secretory transforming", "secretory transforming protein", "transforming protein 1", "heparin secretory transforming protein", "secretory transforming protein 1", "heparin secretory transforming protein 1", "binding", "heparin binding", "binding growth", "heparin binding growth", "binding growth factor", "heparin binding growth factor", "binding growth factor 4", "heparin binding growth factor 4", "ks3", "protein ks3", "transforming protein ks3", "precursor", "4 precursor", "factor 4 precursor", "growth factor 4 precursor", "fibroblast growth factor 4 precursor", "human", "stomach", "cancer", "from", "related", "oncogene", "human stomach", "stomach cancer", "transforming factor", "factor from", "from fgf", "fgf related", "related oncogene", "human stomach cancer", "cancer transforming", "transforming factor from", "factor from fgf", "from fgf related", "fgf related oncogene", "stomach cancer transforming", "cancer transforming factor", "transforming factor from fgf", "factor from fgf related", "from fgf related oncogene", "human stomach cancer transforming", "stomach cancer transforming factor", "cancer transforming factor from", "transforming factor from fgf related", "factor from fgf related oncogene", "kaposi", "sarcoma", "kaposi sarcoma", "sarcoma oncogene", "kaposi sarcoma oncogene", "oncogene hst" ] }, { "record_id": "MONDO:0979243", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979243", "0979243", "mim:621261", "621261" ] }, { "record_id": "MONDO:0979243", "record_type": "disease", "section": "disease_name", "phraselist": [ "cardiomyopathy", "dilated", "2m", "cardiomyopathy dilated", "dilated 2m", "cardiomyopathy dilated 2m" ] }, { "record_id": "MONDO:0979243", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979243", "record_type": "disease", "section": "proteins", "phraselist": [ "q0zgt2", "q0zgt2 1", "nexn_human", "np_001165780", "glycoprotein", "nexn", "cdm2m", "cmh20", "nelin" ] }, { "record_id": "MONDO:0979243", "record_type": "disease", "section": "proteins", "phraselist": [ "nexilin", "actin", "binding", "protein", "f actin", "actin binding", "binding protein", "f actin binding", "actin binding protein", "f actin binding protein", "nelin", "isoform", "nexilin isoform", "isoform 2", "nexilin isoform 2" ] }, { "record_id": "MONDO:0979244", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979244", "0979244", "mim:621262", "621262" ] }, { "record_id": "MONDO:0979244", "record_type": "disease", "section": "disease_name", "phraselist": [ "diamond", "blackfan", "anemia", "22", "diamond blackfan", "blackfan anemia", "anemia 22", "diamond blackfan anemia", "blackfan anemia 22", "diamond blackfan anemia 22" ] }, { "record_id": "MONDO:0979244", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979244", "record_type": "disease", "section": "proteins", "phraselist": [ "p18621", "p18621 1", "rl17_human", "np_000976", "glycoprotein", "rpl17", "dba22", "l17", "pd", "pd 1", "rpl23", "ul22" ] }, { "record_id": "MONDO:0979244", "record_type": "disease", "section": "proteins", "phraselist": [ "large", "ribosomal", "subunit", "protein", "ul22", "large ribosomal", "ribosomal subunit", "subunit protein", "protein ul22", "large ribosomal subunit", "ribosomal subunit protein", "subunit protein ul22", "large ribosomal subunit protein", "ribosomal subunit protein ul22", "large ribosomal subunit protein ul22", "60s", "l17", "60s ribosomal", "ribosomal protein", "protein l17", "60s ribosomal protein", "ribosomal protein l17", "60s ribosomal protein l17", "l23", "protein l23", "ribosomal protein l23", "60s ribosomal protein l23", "pd", "pd 1", "gene", "encoding", "putative", "nfkb", "activating", "gene encoding", "encoding putative", "putative nfkb", "nfkb activating", "activating protein", "gene encoding putative", "encoding putative nfkb", "putative nfkb activating", "nfkb activating protein", "gene encoding putative nfkb", "encoding putative nfkb activating", "putative nfkb activating protein", "gene encoding putative nfkb activating", "encoding putative nfkb activating protein", "isoform", "ul22 isoform", "isoform a", "protein ul22 isoform", "ul22 isoform a", "subunit protein ul22 isoform", "protein ul22 isoform a", "ribosomal subunit protein ul22 isoform", "subunit protein ul22 isoform a" ] }, { "record_id": "MONDO:0979245", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979245", "0979245", "mim:621263", "621263" ] }, { "record_id": "MONDO:0979245", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "behavioral", "ear", "and", "skeletal", "abnormalities", "neurodevelopmental disorder", "disorder with", "with behavioral", "and skeletal", "skeletal abnormalities", "neurodevelopmental disorder with", "disorder with behavioral", "behavioral ear", "ear and", "and skeletal abnormalities", "neurodevelopmental disorder with behavioral", "with behavioral ear", "ear and skeletal", "disorder with behavioral ear", "behavioral ear and", "ear and skeletal abnormalities" ] }, { "record_id": "MONDO:0979245", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979245", "record_type": "disease", "section": "proteins", "phraselist": [ "q9uk73", "q9uk73 1", "fem1b_human", "np_056137", "glycoprotein", "fem1b", "f1a", "alpha", "f1a alpha", "f1aa", "fem1", "beta", "fem1 beta", "kiaa0396", "nedbes" ] }, { "record_id": "MONDO:0979245", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "fem", "homolog", "protein fem", "fem 1", "1 homolog", "homolog b", "protein fem 1", "fem 1 homolog", "1 homolog b", "protein fem 1 homolog", "fem 1 homolog b", "protein fem 1 homolog b", "f1a", "alpha", "f1a alpha", "like", "death", "receptor", "binding", "1 like", "like death", "death receptor", "receptor binding", "binding protein", "fem 1 like", "1 like death", "like death receptor", "death receptor binding", "receptor binding protein", "fem 1 like death", "1 like death receptor", "like death receptor binding", "death receptor binding protein", "fem 1 like death receptor", "1 like death receptor binding", "like death receptor binding protein", "fem1", "beta", "fem1 beta", "fem1b", "protein alpha", "binding protein alpha", "receptor binding protein alpha", "death receptor binding protein alpha", "in", "apoptotic", "pathway", "like in", "in apoptotic", "apoptotic pathway", "pathway protein", "1 like in", "like in apoptotic", "in apoptotic pathway", "apoptotic pathway protein", "pathway protein alpha", "fem 1 like in", "1 like in apoptotic", "like in apoptotic pathway", "in apoptotic pathway protein", "apoptotic pathway protein alpha", "fem 1 like in apoptotic", "1 like in apoptotic pathway", "like in apoptotic pathway protein", "in apoptotic pathway protein alpha" ] }, { "record_id": "MONDO:0979571", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979571", "0979571", "mim:621268", "621268" ] }, { "record_id": "MONDO:0979571", "record_type": "disease", "section": "disease_name", "phraselist": [ "exudative", "vitreoretinopathy", "exudative vitreoretinopathy", "vitreoretinopathy 8", "exudative vitreoretinopathy 8", "exudative 8", "vitreoretinopathy exudative", "vitreoretinopathy exudative 8" ] }, { "record_id": "MONDO:0979571", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979571", "record_type": "disease", "section": "proteins", "phraselist": [ "o75581", "o75581 1", "lrp6_human", "np_002327", "glycoprotein", "lrp6", "adcad2", "evr8", "opta4", "sthag7" ] }, { "record_id": "MONDO:0979571", "record_type": "disease", "section": "proteins", "phraselist": [ "low", "density", "lipoprotein", "receptor", "related", "protein", "low density", "density lipoprotein", "lipoprotein receptor", "receptor related", "related protein", "protein 6", "low density lipoprotein", "density lipoprotein receptor", "lipoprotein receptor related", "receptor related protein", "related protein 6", "low density lipoprotein receptor", "density lipoprotein receptor related", "lipoprotein receptor related protein", "receptor related protein 6", "low density lipoprotein receptor related", "density lipoprotein receptor related protein", "lipoprotein receptor related protein 6", "lrp", "lrp 6", "isoform", "precursor", "6 isoform", "isoform b", "b precursor", "protein 6 isoform", "6 isoform b", "isoform b precursor", "related protein 6 isoform", "protein 6 isoform b", "6 isoform b precursor", "receptor related protein 6 isoform", "related protein 6 isoform b", "protein 6 isoform b precursor" ] }, { "record_id": "MONDO:0979573", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979573", "0979573", "mim:621270", "621270" ] }, { "record_id": "MONDO:0979573", "record_type": "disease", "section": "disease_name", "phraselist": [ "cardiomyopathy", "familial", "hypertrophic", "31", "familial hypertrophic", "cardiomyopathy familial", "hypertrophic 31", "cardiomyopathy familial hypertrophic", "familial hypertrophic 31" ] }, { "record_id": "MONDO:0979573", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979573", "record_type": "disease", "section": "proteins", "phraselist": [ "q969q1", "q969q1 1", "tri63_human", "np_115977", "glycoprotein", "trim63", "cmh31", "irf", "murf1", "murf2", "rnf28", "smrz" ] }, { "record_id": "MONDO:0979573", "record_type": "disease", "section": "proteins", "phraselist": [ "e3", "ubiquitin", "protein", "ligase", "trim63", "e3 ubiquitin", "ubiquitin protein", "protein ligase", "ligase trim63", "e3 ubiquitin protein", "ubiquitin protein ligase", "protein ligase trim63", "e3 ubiquitin protein ligase", "ubiquitin protein ligase trim63", "e3 ubiquitin protein ligase trim63", "2.3.2.27", "iris", "ring", "finger", "iris ring", "ring finger", "finger protein", "iris ring finger", "ring finger protein", "iris ring finger protein", "murf", "murf 1", "murf1", "muscle", "specific", "muscle specific", "specific ring", "protein 1", "muscle specific ring", "specific ring finger", "finger protein 1", "muscle specific ring finger", "specific ring finger protein", "ring finger protein 1", "muscle specific ring finger protein", "specific ring finger protein 1", "28", "protein 28", "finger protein 28", "ring finger protein 28", "type", "transferase", "ring type", "type e3", "ubiquitin transferase", "transferase trim63", "ring type e3", "type e3 ubiquitin", "e3 ubiquitin transferase", "ubiquitin transferase trim63", "ring type e3 ubiquitin", "type e3 ubiquitin transferase", "e3 ubiquitin transferase trim63", "ring type e3 ubiquitin transferase", "type e3 ubiquitin transferase trim63", "striated", "zinc", "striated muscle", "muscle ring", "ring zinc", "zinc finger", "striated muscle ring", "muscle ring zinc", "ring zinc finger", "zinc finger protein", "striated muscle ring zinc", "muscle ring zinc finger", "ring zinc finger protein", "striated muscle ring zinc finger", "muscle ring zinc finger protein", "tripartite", "motif", "containing", "63", "tripartite motif", "motif containing", "containing protein", "protein 63", "tripartite motif containing", "motif containing protein", "containing protein 63", "tripartite motif containing protein", "motif containing protein 63", "tripartite motif containing protein 63", "protein 2", "finger protein 2", "ring finger protein 2", "specific ring finger protein 2", "containing 63", "motif containing 63", "63 e3", "tripartite motif containing 63", "containing 63 e3", "63 e3 ubiquitin", "motif containing 63 e3", "containing 63 e3 ubiquitin", "63 e3 ubiquitin protein" ] }, { "record_id": "MONDO:0979574", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979574", "0979574", "mim:621280", "621280" ] }, { "record_id": "MONDO:0979574", "record_type": "disease", "section": "disease_name", "phraselist": [ "retinitis", "pigmentosa", "100", "retinitis pigmentosa", "pigmentosa 100", "retinitis pigmentosa 100" ] }, { "record_id": "MONDO:0979575", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979575", "0979575", "mim:621285", "621285" ] }, { "record_id": "MONDO:0979575", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "autosomal", "dominant", "76", "intellectual developmental", "developmental disorder", "autosomal dominant", "dominant 76", "intellectual developmental disorder", "disorder autosomal", "autosomal dominant 76", "developmental disorder autosomal", "disorder autosomal dominant", "intellectual developmental disorder autosomal", "developmental disorder autosomal dominant", "disorder autosomal dominant 76" ] }, { "record_id": "MONDO:0979575", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979575", "record_type": "disease", "section": "proteins", "phraselist": [ "q7kzi7", "q7kzi7 1", "mark2_human", "np_001156768", "glycoprotein", "mark2", "emk", "emk 1", "emk1", "mrd76", "par", "par 1", "1b", "par 1b", "par1b" ] }, { "record_id": "MONDO:0979575", "record_type": "disease", "section": "proteins", "phraselist": [ "serine/threonine", "protein", "kinase", "mark2", "serine/threonine protein", "protein kinase", "kinase mark2", "serine/threonine protein kinase", "protein kinase mark2", "serine/threonine protein kinase mark2", "2.7.11.1", "2.7.11.26", "elkl", "motif", "elkl motif", "motif kinase", "kinase 1", "elkl motif kinase", "motif kinase 1", "elkl motif kinase 1", "emk", "emk 1", "map/microtubule", "affinity", "regulating", "map/microtubule affinity", "affinity regulating", "regulating kinase", "kinase 2", "map/microtubule affinity regulating", "affinity regulating kinase", "regulating kinase 2", "map/microtubule affinity regulating kinase", "affinity regulating kinase 2", "map/microtubule affinity regulating kinase 2", "par1", "homolog", "par1 homolog", "homolog b", "par1 homolog b", "par", "1b", "par 1b", "par1b", "ser/thr", "ser/thr protein", "kinase par", "ser/thr protein kinase", "protein kinase par", "kinase par 1b", "ser/thr protein kinase par", "protein kinase par 1b", "ser/thr protein kinase par 1b", "kinase emk", "protein kinase emk", "serine/threonine protein kinase emk", "isoform", "mark2 isoform", "isoform e", "kinase mark2 isoform", "mark2 isoform e", "protein kinase mark2 isoform", "kinase mark2 isoform e", "serine/threonine protein kinase mark2 isoform", "protein kinase mark2 isoform e", "testicular", "tissue", "li", "117", "testicular tissue", "tissue protein", "protein li", "li 117", "testicular tissue protein", "tissue protein li", "protein li 117", "testicular tissue protein li", "tissue protein li 117", "testicular tissue protein li 117" ] }, { "record_id": "MONDO:0979865", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979865", "0979865", "mim:618428", "618428" ] }, { "record_id": "MONDO:0979865", "record_type": "disease", "section": "disease_name", "phraselist": [ "popov", "chang", "syndrome", "popov chang", "chang syndrome", "popov chang syndrome" ] }, { "record_id": "MONDO:0979866", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979866", "0979866", "mim:621277", "621277" ] }, { "record_id": "MONDO:0979866", "record_type": "disease", "section": "disease_name", "phraselist": [ "oculovertebral", "syndrome", "oculovertebral syndrome" ] }, { "record_id": "MONDO:0979866", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979866", "record_type": "disease", "section": "proteins", "phraselist": [ "q15406", "q15406 1", "nr6a1_human", "np_001265475", "glycoprotein", "nr6a1", "ct150", "gcnf1", "gcnf", "nr61", "rtr", "hgcnf", "hrtr" ] }, { "record_id": "MONDO:0979866", "record_type": "disease", "section": "proteins", "phraselist": [ "nuclear", "receptor", "subfamily", "group", "member", "nuclear receptor", "receptor subfamily", "subfamily 6", "6 group", "group a", "a member", "member 1", "nuclear receptor subfamily", "receptor subfamily 6", "subfamily 6 group", "6 group a", "group a member", "a member 1", "nuclear receptor subfamily 6", "receptor subfamily 6 group", "subfamily 6 group a", "6 group a member", "group a member 1", "nuclear receptor subfamily 6 group", "receptor subfamily 6 group a", "subfamily 6 group a member", "6 group a member 1", "gcnf", "germ", "cell", "factor", "germ cell", "cell nuclear", "nuclear factor", "germ cell nuclear", "cell nuclear factor", "germ cell nuclear factor", "rtr", "retinoid", "related", "testis", "specific", "retinoid receptor", "receptor related", "related testis", "testis specific", "specific receptor", "retinoid receptor related", "receptor related testis", "related testis specific", "testis specific receptor", "retinoid receptor related testis", "receptor related testis specific", "related testis specific receptor", "retinoid receptor related testis specific", "receptor related testis specific receptor", "hgcnf", "hrtr", "isoform", "1 isoform", "isoform 4", "member 1 isoform", "1 isoform 4", "a member 1 isoform", "member 1 isoform 4", "group a member 1 isoform", "a member 1 isoform 4", "retinoic", "acid", "associated", "retinoic acid", "acid receptor", "testis associated", "associated receptor", "retinoic acid receptor", "acid receptor related", "related testis associated", "testis associated receptor", "retinoic acid receptor related", "acid receptor related testis", "receptor related testis associated", "related testis associated receptor", "retinoic acid receptor related testis", "acid receptor related testis associated", "receptor related testis associated receptor" ] }, { "record_id": "MONDO:0979871", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979871", "0979871", "mim:621307", "621307" ] }, { "record_id": "MONDO:0979871", "record_type": "disease", "section": "disease_name", "phraselist": [ "alsahan", "harris", "syndrome", "alsahan harris", "harris syndrome", "alsahan harris syndrome" ] }, { "record_id": "MONDO:0979871", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979871", "record_type": "disease", "section": "proteins", "phraselist": [ "q96nh3", "q96nh3 1", "bromi_human", "np_689943", "glycoprotein", "tbc1d32", "alhsa", "bromi", "c6orf170", "c6orf171", "ofd9", "rp100" ] }, { "record_id": "MONDO:0979871", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "broad", "minded", "protein broad", "broad minded", "protein broad minded", "tbc1", "domain", "family", "member", "32", "tbc1 domain", "domain family", "family member", "member 32", "tbc1 domain family", "domain family member", "family member 32", "tbc1 domain family member", "domain family member 32", "tbc1 domain family member 32", "homolog", "minded homolog", "broad minded homolog", "isoform", "minded isoform", "isoform 1", "broad minded isoform", "minded isoform 1", "protein broad minded isoform", "broad minded isoform 1", "protein broad minded isoform 1" ] }, { "record_id": "MONDO:0979872", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979872", "0979872", "mim:621311", "621311" ] }, { "record_id": "MONDO:0979872", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "dysplasia", "of", "the", "hip", "developmental dysplasia", "dysplasia of", "of the", "the hip", "hip 4", "developmental dysplasia of", "dysplasia of the", "of the hip", "the hip 4", "developmental dysplasia of the", "dysplasia of the hip", "of the hip 4", "developmental dysplasia of the hip", "dysplasia of the hip 4" ] }, { "record_id": "MONDO:0979872", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979872", "record_type": "disease", "section": "proteins", "phraselist": [ "q9upn9", "q9upn9 1", "tri33_human", "np_056990", "glycoprotein", "trim33", "ddh4", "ecto", "kiaa1113", "ptc7", "rfg7", "tf1g", "tif1gamma", "tif1g", "tifgamma" ] }, { "record_id": "MONDO:0979872", "record_type": "disease", "section": "proteins", "phraselist": [ "e3", "ubiquitin", "protein", "ligase", "trim33", "e3 ubiquitin", "ubiquitin protein", "protein ligase", "ligase trim33", "e3 ubiquitin protein", "ubiquitin protein ligase", "protein ligase trim33", "e3 ubiquitin protein ligase", "ubiquitin protein ligase trim33", "e3 ubiquitin protein ligase trim33", "2.3.2.27", "isoform", "alpha", "trim33 isoform", "isoform alpha", "ligase trim33 isoform", "trim33 isoform alpha", "protein ligase trim33 isoform", "ligase trim33 isoform alpha", "ubiquitin protein ligase trim33 isoform", "protein ligase trim33 isoform alpha", "ectodermin", "homolog", "ectodermin homolog", "rfg7", "protein rfg7", "ret", "fused", "gene", "ret fused", "fused gene", "gene 7", "7 protein", "ret fused gene", "fused gene 7", "gene 7 protein", "ret fused gene 7", "fused gene 7 protein", "ret fused gene 7 protein", "ring", "type", "transferase", "ring type", "type e3", "ubiquitin transferase", "transferase trim33", "ring type e3", "type e3 ubiquitin", "e3 ubiquitin transferase", "ubiquitin transferase trim33", "ring type e3 ubiquitin", "type e3 ubiquitin transferase", "e3 ubiquitin transferase trim33", "ring type e3 ubiquitin transferase", "type e3 ubiquitin transferase trim33", "tif1", "gamma", "tif1 gamma", "transcription", "intermediary", "factor", "transcription intermediary", "intermediary factor", "factor 1", "1 gamma", "transcription intermediary factor", "intermediary factor 1", "factor 1 gamma", "transcription intermediary factor 1", "intermediary factor 1 gamma", "transcription intermediary factor 1 gamma", "tripartite", "motif", "containing", "33", "tripartite motif", "motif containing", "containing protein", "protein 33", "tripartite motif containing", "motif containing protein", "containing protein 33", "tripartite motif containing protein", "motif containing protein 33", "tripartite motif containing protein 33", "transcriptional", "transcriptional intermediary", "transcriptional intermediary factor", "transcriptional intermediary factor 1", "transcriptional intermediary factor 1 gamma" ] }, { "record_id": "MONDO:0979875", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979875", "0979875", "mim:621328", "621328" ] }, { "record_id": "MONDO:0979875", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "achalasia", "polyneuropathy", "and", "alacrima", "neurodevelopmental disorder", "disorder with", "with achalasia", "and alacrima", "neurodevelopmental disorder with", "disorder with achalasia", "achalasia polyneuropathy", "polyneuropathy and", "neurodevelopmental disorder with achalasia", "with achalasia polyneuropathy", "polyneuropathy and alacrima", "disorder with achalasia polyneuropathy", "achalasia polyneuropathy and" ] }, { "record_id": "MONDO:0979875", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979875", "record_type": "disease", "section": "proteins", "phraselist": [ "q9btx1", "q9btx1 1", "ndc1_human", "np_001162023", "glycoprotein", "ndc1", "nedapa", "net3", "tmem48" ] }, { "record_id": "MONDO:0979875", "record_type": "disease", "section": "proteins", "phraselist": [ "nucleoporin", "ndc1", "nucleoporin ndc1", "transmembrane", "protein", "48", "transmembrane protein", "protein 48", "transmembrane protein 48", "hndc1", "nuclear", "division", "cycle", "homolog", "nuclear division", "division cycle", "cycle 1", "1 homolog", "nuclear division cycle", "division cycle 1", "cycle 1 homolog", "nuclear division cycle 1", "division cycle 1 homolog", "nuclear division cycle 1 homolog", "isoform", "ndc1 isoform", "isoform 2", "nucleoporin ndc1 isoform", "ndc1 isoform 2", "nucleoporin ndc1 isoform 2" ] }, { "record_id": "MONDO:0979876", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979876", "0979876", "mim:621332", "621332" ] }, { "record_id": "MONDO:0979876", "record_type": "disease", "section": "disease_name", "phraselist": [ "wilms", "tumor", "wilms tumor", "tumor 7", "wilms tumor 7" ] }, { "record_id": "MONDO:0979876", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979876", "record_type": "disease", "section": "proteins", "phraselist": [ "q13263", "q13263 1", "tif1b_human", "np_005753", "glycoprotein", "trim28", "kap1", "ppp1r157", "rnf96", "tf1b", "tif1b", "tif1beta", "wt7" ] }, { "record_id": "MONDO:0979876", "record_type": "disease", "section": "proteins", "phraselist": [ "transcription", "intermediary", "factor", "beta", "transcription intermediary", "intermediary factor", "factor 1", "1 beta", "transcription intermediary factor", "intermediary factor 1", "factor 1 beta", "transcription intermediary factor 1", "intermediary factor 1 beta", "transcription intermediary factor 1 beta", "2.3.2.27", "e3", "sumo", "protein", "ligase", "trim28", "e3 sumo", "sumo protein", "protein ligase", "ligase trim28", "e3 sumo protein", "sumo protein ligase", "protein ligase trim28", "e3 sumo protein ligase", "sumo protein ligase trim28", "e3 sumo protein ligase trim28", "kap", "kap 1", "krab", "kruppel", "associated", "box", "domain", "kruppel associated", "associated box", "box domain", "associated protein", "protein 1", "krab kruppel", "kruppel associated box", "associated box domain", "domain associated", "associated protein 1", "krab kruppel associated", "kruppel associated box domain", "box domain associated", "domain associated protein", "krab kruppel associated box", "associated box domain associated", "box domain associated protein", "domain associated protein 1", "krab associated", "krab associated protein", "krab associated protein 1", "interacting", "krab interacting", "interacting protein", "krab interacting protein", "interacting protein 1", "krab interacting protein 1", "krip", "krip 1", "nuclear", "corepressor", "nuclear corepressor", "corepressor kap", "nuclear corepressor kap", "corepressor kap 1", "nuclear corepressor kap 1", "ring", "finger", "96", "ring finger", "finger protein", "protein 96", "ring finger protein", "finger protein 96", "ring finger protein 96", "type", "ubiquitin", "transferase", "tif1", "ring type", "type e3", "e3 ubiquitin", "ubiquitin transferase", "transferase tif1", "tif1 beta", "ring type e3", "type e3 ubiquitin", "e3 ubiquitin transferase", "ubiquitin transferase tif1", "transferase tif1 beta", "ring type e3 ubiquitin", "type e3 ubiquitin transferase", "e3 ubiquitin transferase tif1", "ubiquitin transferase tif1 beta", "ring type e3 ubiquitin transferase", "type e3 ubiquitin transferase tif1", "e3 ubiquitin transferase tif1 beta", "tripartite", "motif", "containing", "28", "tripartite motif", "motif containing", "containing protein", "protein 28", "tripartite motif containing", "motif containing protein", "containing protein 28", "tripartite motif containing protein", "motif containing protein 28", "tripartite motif containing protein 28", "phosphatase", "regulatory", "subunit", "157", "protein phosphatase", "phosphatase 1", "regulatory subunit", "subunit 157", "protein phosphatase 1", "1 regulatory", "regulatory subunit 157", "phosphatase 1 regulatory", "1 regulatory subunit", "protein phosphatase 1 regulatory", "phosphatase 1 regulatory subunit", "1 regulatory subunit 157", "transcriptional", "transcriptional intermediary", "transcriptional intermediary factor", "transcriptional intermediary factor 1", "transcriptional intermediary factor 1 beta" ] }, { "record_id": "MONDO:0979881", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979881", "0979881", "mim:621333", "621333" ] }, { "record_id": "MONDO:0979881", "record_type": "disease", "section": "disease_name", "phraselist": [ "infection", "induced", "acute", "onset", "axonal", "neuropathy", "infection induced", "induced acute", "acute onset", "onset axonal", "axonal neuropathy", "infection induced acute", "induced acute onset", "acute onset axonal", "onset axonal neuropathy", "infection induced acute onset", "induced acute onset axonal", "acute onset axonal neuropathy", "infection induced acute onset axonal", "induced acute onset axonal neuropathy" ] }, { "record_id": "MONDO:0979881", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979881", "record_type": "disease", "section": "proteins", "phraselist": [ "p18754", "p18754 1", "rcc1_human", "np_001041659", "glycoprotein", "rcc1", "chc1", "iiaan", "rcc1 i" ] }, { "record_id": "MONDO:0979881", "record_type": "disease", "section": "proteins", "phraselist": [ "regulator", "of", "chromosome", "condensation", "regulator of", "of chromosome", "chromosome condensation", "regulator of chromosome", "of chromosome condensation", "regulator of chromosome condensation", "cell", "cycle", "regulatory", "protein", "cell cycle", "cycle regulatory", "regulatory protein", "cell cycle regulatory", "cycle regulatory protein", "cell cycle regulatory protein", "condensation protein", "protein 1", "chromosome condensation protein", "condensation protein 1", "chromosome condensation protein 1", "guanine", "nucleotide", "releasing", "guanine nucleotide", "nucleotide releasing", "releasing protein", "guanine nucleotide releasing", "nucleotide releasing protein", "guanine nucleotide releasing protein", "isoform", "condensation isoform", "isoform a", "chromosome condensation isoform", "condensation isoform a", "of chromosome condensation isoform", "chromosome condensation isoform a", "regulator of chromosome condensation isoform", "of chromosome condensation isoform a" ] }, { "record_id": "MONDO:0979883", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979883", "0979883", "mim:621337", "621337" ] }, { "record_id": "MONDO:0979883", "record_type": "disease", "section": "disease_name", "phraselist": [ "cranioectodermal", "dysplasia", "cranioectodermal dysplasia", "dysplasia 6", "cranioectodermal dysplasia 6" ] }, { "record_id": "MONDO:0979883", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979883", "record_type": "disease", "section": "proteins", "phraselist": [ "q9upz9", "q9upz9 1", "cilk1_human", "np_055735", "cilk1", "ced6", "eco", "ejm10", "ick", "kiaa0936", "lck2", "mrk", "hick" ] }, { "record_id": "MONDO:0979883", "record_type": "disease", "section": "proteins", "phraselist": [ "serine/threonine", "protein", "kinase", "ick", "serine/threonine protein", "protein kinase", "kinase ick", "serine/threonine protein kinase", "protein kinase ick", "serine/threonine protein kinase ick", "2.7.11.1", "ciliogenesis", "associated", "ciliogenesis associated", "associated kinase", "kinase 1", "ciliogenesis associated kinase", "associated kinase 1", "ciliogenesis associated kinase 1", "intestinal", "cell", "intestinal cell", "cell kinase", "intestinal cell kinase", "lck2", "laryngeal", "cancer", "laryngeal cancer", "cancer kinase", "kinase 2", "laryngeal cancer kinase", "cancer kinase 2", "laryngeal cancer kinase 2", "mak", "related", "mak related", "related kinase", "mak related kinase", "mrk", "hick", "iciliogenesis", "iciliogenesis associated", "iciliogenesis associated kinase", "iciliogenesis associated kinase 1", "like", "mak like", "cell mak", "like kinase", "intestinal cell mak", "cell mak like", "mak like kinase", "intestinal cell mak like", "isoform", "ick isoform", "isoform 1", "kinase ick isoform", "ick isoform 1", "protein kinase ick isoform", "kinase ick isoform 1", "serine/threonine protein kinase ick isoform", "protein kinase ick isoform 1" ] }, { "record_id": "MONDO:0979898", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979898", "0979898", "mim:621344", "621344" ] }, { "record_id": "MONDO:0979898", "record_type": "disease", "section": "disease_name", "phraselist": [ "dursun", "ozgul", "neurodevelopmental", "syndrome", "dursun ozgul", "ozgul neurodevelopmental", "neurodevelopmental syndrome", "dursun ozgul neurodevelopmental", "ozgul neurodevelopmental syndrome", "dursun ozgul neurodevelopmental syndrome" ] }, { "record_id": "MONDO:0979898", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979898", "record_type": "disease", "section": "proteins", "phraselist": [ "p0c7u0", "p0c7u0 1", "elfn1_human", "np_001122108", "glycoprotein", "elfn1", "donds", "ppp1r28" ] }, { "record_id": "MONDO:0979898", "record_type": "disease", "section": "proteins", "phraselist": [ "protein", "elfn1", "protein elfn1", "extracellular", "leucine", "rich", "repeat", "and", "fibronectin", "type", "iii", "domain", "containing", "extracellular leucine", "leucine rich", "rich repeat", "repeat and", "and fibronectin", "fibronectin type", "type iii", "iii domain", "domain containing", "containing protein", "protein 1", "extracellular leucine rich", "leucine rich repeat", "rich repeat and", "repeat and fibronectin", "and fibronectin type", "fibronectin type iii", "type iii domain", "iii domain containing", "domain containing protein", "containing protein 1", "extracellular leucine rich repeat", "leucine rich repeat and", "rich repeat and fibronectin", "repeat and fibronectin type", "and fibronectin type iii", "fibronectin type iii domain", "type iii domain containing", "iii domain containing protein", "domain containing protein 1", "extracellular leucine rich repeat and", "leucine rich repeat and fibronectin", "rich repeat and fibronectin type", "repeat and fibronectin type iii", "and fibronectin type iii domain", "fibronectin type iii domain containing", "type iii domain containing protein", "iii domain containing protein 1", "phosphatase", "regulatory", "subunit", "28", "protein phosphatase", "phosphatase 1", "1 regulatory", "regulatory subunit", "subunit 28", "protein phosphatase 1", "phosphatase 1 regulatory", "1 regulatory subunit", "regulatory subunit 28", "protein phosphatase 1 regulatory", "phosphatase 1 regulatory subunit", "1 regulatory subunit 28", "protein phosphatase 1 regulatory subunit", "phosphatase 1 regulatory subunit 28", "iii containing", "containing 1", "type iii containing", "iii containing 1", "fibronectin type iii containing", "type iii containing 1", "and fibronectin type iii containing", "fibronectin type iii containing 1", "precursor", "elfn1 precursor", "protein elfn1 precursor" ] }, { "record_id": "MONDO:0979899", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0979899", "0979899", "mim:621345", "621345" ] }, { "record_id": "MONDO:0979899", "record_type": "disease", "section": "disease_name", "phraselist": [ "spondyloepiphyseal", "dysplasia", "holling", "type", "spondyloepiphyseal dysplasia", "holling type", "dysplasia holling", "spondyloepiphyseal dysplasia holling", "dysplasia holling type", "spondyloepiphyseal dysplasia holling type" ] }, { "record_id": "MONDO:0979899", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0979899", "record_type": "disease", "section": "proteins", "phraselist": [ "q12981", "q12981 4", "sec20_human", "np_001196", "glycoprotein", "bnip1", "nip1", "sec20l", "sec20", "sedh", "trg", "trg 8", "trg8" ] }, { "record_id": "MONDO:0979899", "record_type": "disease", "section": "proteins", "phraselist": [ "vesicle", "transport", "protein", "sec20", "vesicle transport", "transport protein", "protein sec20", "vesicle transport protein", "transport protein sec20", "vesicle transport protein sec20", "bcl2/adenovirus", "e1b", "19", "kda", "interacting", "bcl2/adenovirus e1b", "e1b 19", "19 kda", "kda protein", "protein interacting", "interacting protein", "protein 1", "bcl2/adenovirus e1b 19", "e1b 19 kda", "19 kda protein", "kda protein interacting", "protein interacting protein", "interacting protein 1", "bcl2/adenovirus e1b 19 kda", "e1b 19 kda protein", "19 kda protein interacting", "kda protein interacting protein", "protein interacting protein 1", "bcl2/adenovirus e1b 19 kda protein", "e1b 19 kda protein interacting", "19 kda protein interacting protein", "kda protein interacting protein 1", "19kda", "e1b 19kda", "19kda interacting", "bcl2/adenovirus e1b 19kda", "e1b 19kda interacting", "19kda interacting protein", "bcl2/adenovirus e1b 19kda interacting", "e1b 19kda interacting protein", "19kda interacting protein 1", "bcl2/adenovirus e1b 19kda interacting protein", "e1b 19kda interacting protein 1", "trg", "trg 8", "transformation", "related", "gene", "transformation related", "related gene", "gene 8", "8 protein", "transformation related gene", "related gene 8", "gene 8 protein", "transformation related gene 8", "related gene 8 protein", "transformation related gene 8 protein", "isoform", "bnip1", "sec20 isoform", "isoform bnip1", "protein sec20 isoform", "sec20 isoform bnip1", "transport protein sec20 isoform", "protein sec20 isoform bnip1", "vesicle transport protein sec20 isoform", "transport protein sec20 isoform bnip1" ] }, { "record_id": "MONDO:0980699", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980699", "0980699" ] }, { "record_id": "MONDO:0980699", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "growth", "impairment", "quadriparesis", "and", "poor", "or", "absent", "speech", "neurodevelopmental disorder", "disorder with", "with growth", "growth impairment", "and poor", "poor or", "or absent", "absent speech", "neurodevelopmental disorder with", "disorder with growth", "with growth impairment", "impairment quadriparesis", "quadriparesis and", "and poor or", "poor or absent", "or absent speech", "neurodevelopmental disorder with growth", "disorder with growth impairment", "growth impairment quadriparesis", "quadriparesis and poor", "and poor or absent", "poor or absent speech", "neurodevelopmental disorder with growth impairment", "with growth impairment quadriparesis", "impairment quadriparesis and", "quadriparesis and poor or", "and poor or absent speech" ] }, { "record_id": "MONDO:0980699", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980699", "record_type": "disease", "section": "proteins", "phraselist": [ "q96pe3", "q96pe3 1", "inp4a_human", "np_001127696", "glycoprotein", "inpp4a", "inpp4", "nedgqs", "tvas1" ] }, { "record_id": "MONDO:0980699", "record_type": "disease", "section": "proteins", "phraselist": [ "inositol", "polyphosphate", "phosphatase", "type", "inositol polyphosphate", "polyphosphate 4", "4 phosphatase", "phosphatase type", "type i", "i a", "inositol polyphosphate 4", "polyphosphate 4 phosphatase", "4 phosphatase type", "phosphatase type i", "type i a", "inositol polyphosphate 4 phosphatase", "polyphosphate 4 phosphatase type", "4 phosphatase type i", "phosphatase type i a", "inositol polyphosphate 4 phosphatase type", "polyphosphate 4 phosphatase type i", "4 phosphatase type i a", "3.1.3.66", "bisphosphate", "i inositol", "inositol 3", "3 4", "4 bisphosphate", "bisphosphate 4", "type i inositol", "i inositol 3", "inositol 3 4", "3 4 bisphosphate", "4 bisphosphate 4", "bisphosphate 4 phosphatase", "type i inositol 3", "i inositol 3 4", "inositol 3 4 bisphosphate", "3 4 bisphosphate 4", "4 bisphosphate 4 phosphatase", "type i inositol 3 4", "i inositol 3 4 bisphosphate", "inositol 3 4 bisphosphate 4", "3 4 bisphosphate 4 phosphatase", "isoform", "a isoform", "isoform d", "i a isoform", "a isoform d", "type i a isoform", "i a isoform d", "phosphatase type i a isoform", "type i a isoform d", "107kda", "i 107kda", "type i 107kda", "107kd", "i 107kd", "type i 107kd" ] }, { "record_id": "MONDO:0980700", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980700", "0980700" ] }, { "record_id": "MONDO:0980700", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "speech", "delay", "and", "behavioral", "abnormalities", "neurodevelopmental disorder", "disorder with", "with speech", "speech delay", "delay and", "and behavioral", "behavioral abnormalities", "neurodevelopmental disorder with", "disorder with speech", "with speech delay", "speech delay and", "delay and behavioral", "and behavioral abnormalities", "neurodevelopmental disorder with speech", "disorder with speech delay", "with speech delay and", "speech delay and behavioral", "delay and behavioral abnormalities", "neurodevelopmental disorder with speech delay", "disorder with speech delay and", "with speech delay and behavioral", "speech delay and behavioral abnormalities" ] }, { "record_id": "MONDO:0980701", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980701", "0980701" ] }, { "record_id": "MONDO:0980701", "record_type": "disease", "section": "disease_name", "phraselist": [ "sulfite", "oxidase", "deficiency", "due", "to", "molybdenum", "cofactor", "type", "b2", "sulfite oxidase", "oxidase deficiency", "deficiency due", "due to", "to molybdenum", "molybdenum cofactor", "cofactor deficiency", "deficiency type", "type b2", "sulfite oxidase deficiency", "oxidase deficiency due", "deficiency due to", "due to molybdenum", "to molybdenum cofactor", "molybdenum cofactor deficiency", "cofactor deficiency type", "deficiency type b2", "sulfite oxidase deficiency due", "oxidase deficiency due to", "deficiency due to molybdenum", "due to molybdenum cofactor", "to molybdenum cofactor deficiency", "molybdenum cofactor deficiency type", "cofactor deficiency type b2", "sulfite oxidase deficiency due to", "oxidase deficiency due to molybdenum", "deficiency due to molybdenum cofactor", "due to molybdenum cofactor deficiency", "to molybdenum cofactor deficiency type", "molybdenum cofactor deficiency type b2" ] }, { "record_id": "MONDO:0980701", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980701", "record_type": "disease", "section": "proteins", "phraselist": [ "o95396", "o95396 1", "mocs3_human", "np_055299", "mocs3", "mocodb2", "uba4" ] }, { "record_id": "MONDO:0980701", "record_type": "disease", "section": "proteins", "phraselist": [ "adenylyltransferase", "and", "sulfurtransferase", "mocs3", "adenylyltransferase and", "and sulfurtransferase", "sulfurtransferase mocs3", "adenylyltransferase and sulfurtransferase", "and sulfurtransferase mocs3", "adenylyltransferase and sulfurtransferase mocs3", "adenylyltransferase mocs3", "mpt", "synthase", "sulfurylase", "mpt synthase", "synthase sulfurylase", "mpt synthase sulfurylase", "molybdenum", "cofactor", "synthesis", "protein", "molybdenum cofactor", "cofactor synthesis", "synthesis protein", "protein 3", "molybdenum cofactor synthesis", "cofactor synthesis protein", "synthesis protein 3", "molybdenum cofactor synthesis protein", "cofactor synthesis protein 3", "molybdenum cofactor synthesis protein 3", "molybdopterin", "molybdopterin synthase", "molybdopterin synthase sulfurylase", "sulfur", "carrier", "mocs2a", "sulfur carrier", "carrier protein", "protein mocs2a", "mocs2a adenylyltransferase", "sulfur carrier protein", "carrier protein mocs2a", "protein mocs2a adenylyltransferase", "sulfur carrier protein mocs2a", "carrier protein mocs2a adenylyltransferase", "sulfur carrier protein mocs2a adenylyltransferase", "mocs2a sulfurtransferase", "protein mocs2a sulfurtransferase", "carrier protein mocs2a sulfurtransferase", "sulfur carrier protein mocs2a sulfurtransferase", "uba4", "ubiquitin", "activating", "enzyme", "e1", "homolog", "ubiquitin activating", "activating enzyme", "enzyme e1", "e1 homolog", "uba4 ubiquitin", "ubiquitin activating enzyme", "activating enzyme e1", "enzyme e1 homolog", "uba4 ubiquitin activating", "ubiquitin activating enzyme e1", "activating enzyme e1 homolog", "uba4 ubiquitin activating enzyme", "ubiquitin activating enzyme e1 homolog", "like", "modifier", "ubiquitin like", "like modifier", "modifier activating", "enzyme 4", "ubiquitin like modifier", "like modifier activating", "modifier activating enzyme", "activating enzyme 4", "ubiquitin like modifier activating", "like modifier activating enzyme", "modifier activating enzyme 4", "ubiquitin like modifier activating enzyme", "like modifier activating enzyme 4" ] }, { "record_id": "MONDO:0980702", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980702", "0980702" ] }, { "record_id": "MONDO:0980702", "record_type": "disease", "section": "disease_name", "phraselist": [ "immune", "dysregulation", "neurodevelopmental", "defects", "and", "colitis", "immune dysregulation", "neurodevelopmental defects", "and colitis", "dysregulation neurodevelopmental", "defects and", "immune dysregulation neurodevelopmental", "dysregulation neurodevelopmental defects", "neurodevelopmental defects and", "defects and colitis", "immune dysregulation neurodevelopmental defects", "neurodevelopmental defects and colitis" ] }, { "record_id": "MONDO:0980703", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980703", "0980703" ] }, { "record_id": "MONDO:0980703", "record_type": "disease", "section": "disease_name", "phraselist": [ "harel", "tora", "neurodevelopmental", "syndrome", "harel tora", "tora neurodevelopmental", "neurodevelopmental syndrome", "harel tora neurodevelopmental", "tora neurodevelopmental syndrome", "harel tora neurodevelopmental syndrome" ] }, { "record_id": "MONDO:0980704", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980704", "0980704" ] }, { "record_id": "MONDO:0980704", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurocardiorenal", "malformation", "syndrome", "neurocardiorenal malformation", "malformation syndrome", "neurocardiorenal malformation syndrome" ] }, { "record_id": "MONDO:0980705", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980705", "0980705" ] }, { "record_id": "MONDO:0980705", "record_type": "disease", "section": "disease_name", "phraselist": [ "congenital", "disorder", "of", "glycosylation", "type", "iicc", "congenital disorder", "disorder of", "of glycosylation", "type iicc", "congenital disorder of", "disorder of glycosylation", "glycosylation type", "congenital disorder of glycosylation", "of glycosylation type", "glycosylation type iicc", "disorder of glycosylation type", "of glycosylation type iicc" ] }, { "record_id": "MONDO:0980705", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980705", "record_type": "disease", "section": "proteins", "phraselist": [ "q9nyu2", "q9nyu2 1", "uggg1_human", "np_064505", "glycoprotein", "uggt1", "cdg2cc", "gt", "hugt1", "ugcgl1", "uggt", "ugt1", "ugtr" ] }, { "record_id": "MONDO:0980705", "record_type": "disease", "section": "proteins", "phraselist": [ "udp", "glucose:glycoprotein", "glucosyltransferase", "udp glucose:glycoprotein", "glucose:glycoprotein glucosyltransferase", "glucosyltransferase 1", "udp glucose:glycoprotein glucosyltransferase", "glucose:glycoprotein glucosyltransferase 1", "udp glucose:glycoprotein glucosyltransferase 1", "2.4.1.", "glc:glycoprotein", "glc:glycoprotein glucosyltransferase", "udp glc:glycoprotein", "udp glc:glycoprotein glucosyltransferase", "glucose", "ceramide", "like", "udp glucose", "glucose ceramide", "ceramide glucosyltransferase", "glucosyltransferase like", "like 1", "udp glucose ceramide", "glucose ceramide glucosyltransferase", "ceramide glucosyltransferase like", "glucosyltransferase like 1", "udp glucose ceramide glucosyltransferase", "glucose ceramide glucosyltransferase like", "ceramide glucosyltransferase like 1", "udp glucose ceramide glucosyltransferase like", "glucose ceramide glucosyltransferase like 1", "precursor", "1 precursor", "glucosyltransferase 1 precursor", "glucose:glycoprotein glucosyltransferase 1 precursor", "udp glucose:glycoprotein glucosyltransferase 1 precursor", "ugt1", "hugt1" ] }, { "record_id": "MONDO:0980706", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980706", "0980706" ] }, { "record_id": "MONDO:0980706", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "behavioral", "abnormalities", "and", "childhood", "onset", "spastic", "paraplegia", "neurodevelopmental disorder", "disorder with", "with behavioral", "behavioral abnormalities", "abnormalities and", "and childhood", "childhood onset", "onset spastic", "spastic paraplegia", "neurodevelopmental disorder with", "disorder with behavioral", "with behavioral abnormalities", "behavioral abnormalities and", "abnormalities and childhood", "and childhood onset", "childhood onset spastic", "onset spastic paraplegia", "neurodevelopmental disorder with behavioral", "disorder with behavioral abnormalities", "with behavioral abnormalities and", "behavioral abnormalities and childhood", "abnormalities and childhood onset", "and childhood onset spastic", "childhood onset spastic paraplegia", "neurodevelopmental disorder with behavioral abnormalities", "disorder with behavioral abnormalities and", "with behavioral abnormalities and childhood", "behavioral abnormalities and childhood onset", "abnormalities and childhood onset spastic", "and childhood onset spastic paraplegia" ] }, { "record_id": "MONDO:0980707", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980707", "0980707" ] }, { "record_id": "MONDO:0980707", "record_type": "disease", "section": "disease_name", "phraselist": [ "valence", "farazi", "cerebellar", "ataxia", "syndrome", "valence farazi", "farazi cerebellar", "cerebellar ataxia", "ataxia syndrome", "valence farazi cerebellar", "farazi cerebellar ataxia", "cerebellar ataxia syndrome", "valence farazi cerebellar ataxia", "farazi cerebellar ataxia syndrome", "valence farazi cerebellar ataxia syndrome" ] }, { "record_id": "MONDO:0980708", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980708", "0980708" ] }, { "record_id": "MONDO:0980708", "record_type": "disease", "section": "disease_name", "phraselist": [ "spermatogenic", "failure", "102", "spermatogenic failure", "failure 102", "spermatogenic failure 102" ] }, { "record_id": "MONDO:0980709", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980709", "0980709" ] }, { "record_id": "MONDO:0980709", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "early", "onset", "seizures", "facial", "dysmorphism", "and", "behavioral", "abnormalities", "neurodevelopmental disorder", "disorder with", "with early", "early onset", "onset seizures", "facial dysmorphism", "and behavioral", "behavioral abnormalities", "neurodevelopmental disorder with", "disorder with early", "with early onset", "early onset seizures", "seizures facial", "dysmorphism and", "and behavioral abnormalities", "neurodevelopmental disorder with early", "disorder with early onset", "with early onset seizures", "onset seizures facial", "seizures facial dysmorphism", "facial dysmorphism and", "dysmorphism and behavioral", "neurodevelopmental disorder with early onset", "disorder with early onset seizures", "early onset seizures facial", "onset seizures facial dysmorphism", "facial dysmorphism and behavioral", "dysmorphism and behavioral abnormalities" ] }, { "record_id": "MONDO:0980710", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980710", "0980710" ] }, { "record_id": "MONDO:0980710", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "structural", "brain", "abnormalities", "and", "craniofacial", "neurodevelopmental disorder", "disorder with", "with structural", "structural brain", "brain abnormalities", "abnormalities and", "and craniofacial", "craniofacial abnormalities", "neurodevelopmental disorder with", "disorder with structural", "with structural brain", "structural brain abnormalities", "brain abnormalities and", "abnormalities and craniofacial", "and craniofacial abnormalities", "neurodevelopmental disorder with structural", "disorder with structural brain", "with structural brain abnormalities", "structural brain abnormalities and", "brain abnormalities and craniofacial", "abnormalities and craniofacial abnormalities", "neurodevelopmental disorder with structural brain", "disorder with structural brain abnormalities", "with structural brain abnormalities and", "structural brain abnormalities and craniofacial", "brain abnormalities and craniofacial abnormalities" ] }, { "record_id": "MONDO:0980712", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980712", "0980712" ] }, { "record_id": "MONDO:0980712", "record_type": "disease", "section": "disease_name", "phraselist": [ "dyschromatosis", "ichthyosis", "deafness", "and", "atopic", "disease", "and atopic", "atopic disease", "dyschromatosis ichthyosis", "ichthyosis deafness", "deafness and", "and atopic disease", "deafness and atopic", "dyschromatosis ichthyosis deafness", "ichthyosis deafness and", "deafness and atopic disease" ] }, { "record_id": "MONDO:0980721", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980721", "0980721", "mim:621236", "621236" ] }, { "record_id": "MONDO:0980721", "record_type": "disease", "section": "disease_name", "phraselist": [ "rhabdomyolysis", "susceptibility", "to", "susceptibility to", "rhabdomyolysis susceptibility", "to 2", "rhabdomyolysis susceptibility to", "susceptibility to 2", "rhabdomyolysis 2" ] }, { "record_id": "MONDO:0980721", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980721", "record_type": "disease", "section": "proteins", "phraselist": [ "p16615", "p16615 1", "at2a2_human", "np_001672", "glycoprotein", "atp2a2", "atp2b", "dar", "dd", "rhabdo2", "serca2" ] }, { "record_id": "MONDO:0980721", "record_type": "disease", "section": "proteins", "phraselist": [ "sarcoplasmic/endoplasmic", "reticulum", "calcium", "atpase", "sarcoplasmic/endoplasmic reticulum", "reticulum calcium", "calcium atpase", "atpase 2", "sarcoplasmic/endoplasmic reticulum calcium", "reticulum calcium atpase", "calcium atpase 2", "sarcoplasmic/endoplasmic reticulum calcium atpase", "reticulum calcium atpase 2", "sarcoplasmic/endoplasmic reticulum calcium atpase 2", "7.2.2.10", "ca++", "transporting", "cardiac", "muscle", "slow", "twitch", "atpase ca++", "ca++ transporting", "transporting cardiac", "cardiac muscle", "muscle slow", "slow twitch", "twitch 2", "atpase ca++ transporting", "ca++ transporting cardiac", "transporting cardiac muscle", "cardiac muscle slow", "muscle slow twitch", "slow twitch 2", "atpase ca++ transporting cardiac", "ca++ transporting cardiac muscle", "transporting cardiac muscle slow", "cardiac muscle slow twitch", "muscle slow twitch 2", "atpase ca++ transporting cardiac muscle", "ca++ transporting cardiac muscle slow", "transporting cardiac muscle slow twitch", "cardiac muscle slow twitch 2", "dependent", "ca++ dependent", "muscle 2", "dependent slow", "twitch cardiac", "cardiac muscle 2", "atpase ca++ dependent", "ca++ dependent slow", "dependent slow twitch", "slow twitch cardiac", "twitch cardiac muscle", "ca++ dependent slow twitch", "slow twitch cardiac muscle", "twitch cardiac muscle 2", "pump", "calcium pump", "pump 2", "calcium pump 2", "sarcoplasmic", "type", "skeletal", "isoform", "calcium transporting", "transporting atpase", "atpase sarcoplasmic", "sarcoplasmic reticulum", "reticulum type", "twitch skeletal", "skeletal muscle", "muscle isoform", "calcium transporting atpase", "transporting atpase sarcoplasmic", "atpase sarcoplasmic reticulum", "sarcoplasmic reticulum type", "type slow", "slow twitch skeletal", "twitch skeletal muscle", "skeletal muscle isoform", "calcium transporting atpase sarcoplasmic", "transporting atpase sarcoplasmic reticulum", "atpase sarcoplasmic reticulum type", "reticulum type slow", "type slow twitch", "slow twitch skeletal muscle", "twitch skeletal muscle isoform", "calcium transporting atpase sarcoplasmic reticulum", "transporting atpase sarcoplasmic reticulum type", "sarcoplasmic reticulum type slow", "reticulum type slow twitch", "type slow twitch skeletal", "slow twitch skeletal muscle isoform", "endoplasmic", "class", "1/2", "ca", "2+", "endoplasmic reticulum", "reticulum class", "class 1/2", "1/2 ca", "ca 2+", "endoplasmic reticulum class", "reticulum class 1/2", "class 1/2 ca", "1/2 ca 2+", "2+ atpase", "endoplasmic reticulum class 1/2", "reticulum class 1/2 ca", "class 1/2 ca 2+", "ca 2+ atpase", "endoplasmic reticulum class 1/2 ca", "reticulum class 1/2 ca 2+", "1/2 ca 2+ atpase", "serca2", "sr", "sr ca", "sr ca 2+", "2+ atpase 2", "sr ca 2+ atpase", "ca 2+ atpase 2", "ca2+", "cardiac ca2+", "ca2+ atpase", "cardiac ca2+ atpase", "2 isoform", "isoform a", "atpase 2 isoform", "2 isoform a", "calcium atpase 2 isoform", "atpase 2 isoform a", "reticulum calcium atpase 2 isoform", "calcium atpase 2 isoform a" ] }, { "record_id": "MONDO:0980723", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980723", "0980723", "mim:621264", "621264" ] }, { "record_id": "MONDO:0980723", "record_type": "disease", "section": "disease_name", "phraselist": [ "fetomaternal", "alloimmune", "thrombocytopenia", "fetomaternal alloimmune", "alloimmune thrombocytopenia", "thrombocytopenia 1", "fetomaternal alloimmune thrombocytopenia", "alloimmune thrombocytopenia 1", "fetomaternal alloimmune thrombocytopenia 1" ] }, { "record_id": "MONDO:0980723", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980723", "record_type": "disease", "section": "proteins", "phraselist": [ "p05106", "p05106 1", "itb3_human", "np_000203", "glycoprotein", "itgb3", "bdplt16", "bdplt24", "bdplt2", "cd61", "fmait1", "gp3a", "gpiiia", "gt2", "gt" ] }, { "record_id": "MONDO:0980723", "record_type": "disease", "section": "proteins", "phraselist": [ "integrin", "beta", "integrin beta", "beta 3", "integrin beta 3", "gpiiia", "platelet", "membrane", "glycoprotein", "iiia", "platelet membrane", "membrane glycoprotein", "glycoprotein iiia", "platelet membrane glycoprotein", "membrane glycoprotein iiia", "platelet membrane glycoprotein iiia", "chain", "beta chain", "integrin beta chain", "chain beta", "beta chain beta", "chain beta 3", "integrin beta chain beta", "beta chain beta 3", "precursor", "3 precursor", "beta 3 precursor", "integrin beta 3 precursor", "antigen", "cd61", "platelet glycoprotein", "antigen cd61", "3 platelet", "platelet glycoprotein iiia", "iiia antigen", "beta 3 platelet", "3 platelet glycoprotein", "glycoprotein iiia antigen", "iiia antigen cd61", "beta 3 platelet glycoprotein", "3 platelet glycoprotein iiia", "platelet glycoprotein iiia antigen", "glycoprotein iiia antigen cd61" ] }, { "record_id": "MONDO:0980724", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980724", "0980724", "mim:621266", "621266" ] }, { "record_id": "MONDO:0980724", "record_type": "disease", "section": "disease_name", "phraselist": [ "fetomaternal", "alloimmune", "thrombocytopenia", "fetomaternal alloimmune", "alloimmune thrombocytopenia", "thrombocytopenia 2", "fetomaternal alloimmune thrombocytopenia", "alloimmune thrombocytopenia 2", "fetomaternal alloimmune thrombocytopenia 2" ] }, { "record_id": "MONDO:0980724", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980724", "record_type": "disease", "section": "proteins", "phraselist": [ "p08514", "p08514 1", "ita2b_human", "np_000410", "glycoprotein", "itga2b", "bdplt16", "bdplt2", "cd41b", "cd41", "fmait2", "gp2b", "gpiib", "gt1", "gta", "gt", "hpa3", "itgab", "ppp1r93" ] }, { "record_id": "MONDO:0980724", "record_type": "disease", "section": "proteins", "phraselist": [ "integrin", "alpha", "iib", "integrin alpha", "alpha iib", "integrin alpha iib", "gpiib", "gpalpha", "gpalpha iib", "platelet", "membrane", "glycoprotein", "platelet membrane", "membrane glycoprotein", "glycoprotein iib", "platelet membrane glycoprotein", "membrane glycoprotein iib", "platelet membrane glycoprotein iib", "alphaiib", "protein", "alphaiib protein", "preproprotein", "iib preproprotein", "alpha iib preproprotein", "integrin alpha iib preproprotein", "2b", "of", "iib/iiia", "complex", "antigen", "cd41", "alpha 2b", "platelet glycoprotein", "iib of", "of iib/iiia", "iib/iiia complex", "antigen cd41", "2b platelet", "platelet glycoprotein iib", "glycoprotein iib of", "iib of iib/iiia", "of iib/iiia complex", "complex antigen", "integrin alpha 2b", "alpha 2b platelet", "2b platelet glycoprotein", "platelet glycoprotein iib of", "glycoprotein iib of iib/iiia", "iib of iib/iiia complex", "iib/iiia complex antigen", "complex antigen cd41", "alpha 2b platelet glycoprotein", "2b platelet glycoprotein iib", "platelet glycoprotein iib of iib/iiia", "glycoprotein iib of iib/iiia complex", "of iib/iiia complex antigen", "iib/iiia complex antigen cd41", "fibrinogen", "receptor", "subunit", "platelet fibrinogen", "fibrinogen receptor", "alpha subunit", "platelet fibrinogen receptor", "receptor alpha", "fibrinogen receptor alpha", "receptor alpha subunit", "platelet fibrinogen receptor alpha", "fibrinogen receptor alpha subunit", "specific", "bak", "platelet specific", "specific antigen", "antigen bak", "platelet specific antigen", "specific antigen bak", "platelet specific antigen bak", "phosphatase", "regulatory", "93", "protein phosphatase", "phosphatase 1", "regulatory subunit", "subunit 93", "protein phosphatase 1", "1 regulatory", "regulatory subunit 93", "phosphatase 1 regulatory", "1 regulatory subunit", "protein phosphatase 1 regulatory", "phosphatase 1 regulatory subunit", "1 regulatory subunit 93" ] }, { "record_id": "MONDO:0980725", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980725", "0980725", "mim:621267", "621267" ] }, { "record_id": "MONDO:0980725", "record_type": "disease", "section": "disease_name", "phraselist": [ "fetomaternal", "alloimmune", "thrombocytopenia", "fetomaternal alloimmune", "alloimmune thrombocytopenia", "thrombocytopenia 3", "fetomaternal alloimmune thrombocytopenia", "alloimmune thrombocytopenia 3", "fetomaternal alloimmune thrombocytopenia 3" ] }, { "record_id": "MONDO:0980725", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980725", "record_type": "disease", "section": "proteins", "phraselist": [ "p17301", "p17301 1", "ita2_human", "np_002194", "glycoprotein", "itga2", "br", "cd49b", "fmait3", "gpia", "hpa", "hpa 5", "vla", "vla 2", "vlaa2" ] }, { "record_id": "MONDO:0980725", "record_type": "disease", "section": "proteins", "phraselist": [ "integrin", "alpha", "integrin alpha", "alpha 2", "integrin alpha 2", "cd49", "antigen", "like", "family", "member", "cd49 antigen", "antigen like", "like family", "family member", "member b", "cd49 antigen like", "antigen like family", "like family member", "family member b", "cd49 antigen like family", "antigen like family member", "like family member b", "cd49 antigen like family member", "antigen like family member b", "collagen", "receptor", "collagen receptor", "gpia", "platelet", "membrane", "glycoprotein", "ia", "platelet membrane", "membrane glycoprotein", "glycoprotein ia", "platelet membrane glycoprotein", "membrane glycoprotein ia", "platelet membrane glycoprotein ia", "vla", "subunit", "vla 2", "2 subunit", "subunit alpha", "vla 2 subunit", "2 subunit alpha", "vla 2 subunit alpha", "2 integrin", "alpha 2 integrin", "human", "alloantigen", "human platelet", "platelet alloantigen", "alloantigen 5", "human platelet alloantigen", "platelet alloantigen 5", "human platelet alloantigen 5", "system", "alloantigen system", "system 5", "platelet alloantigen system", "alloantigen system 5", "human platelet alloantigen system", "platelet alloantigen system 5", "human platelet alloantigen system 5", "precursor", "2 precursor", "alpha 2 precursor", "integrin alpha 2 precursor", "cd49b", "of", "subunit of", "of vla", "2 receptor", "2 cd49b", "cd49b alpha", "alpha 2 subunit", "2 subunit of", "subunit of vla", "of vla 2", "vla 2 receptor", "alpha 2 cd49b", "cd49b alpha 2", "alpha 2 subunit of", "2 subunit of vla", "subunit of vla 2", "of vla 2 receptor", "2 cd49b alpha", "cd49b alpha 2 subunit", "alpha 2 subunit of vla", "2 subunit of vla 2", "subunit of vla 2 receptor", "br", "platelet antigen", "antigen br", "platelet antigen br", "platelet glycoprotein", "glycoprotein gpia", "platelet glycoprotein gpia", "very", "late", "activation", "protein", "very late", "late activation", "activation protein", "protein 2", "very late activation", "late activation protein", "activation protein 2", "protein 2 receptor", "receptor alpha", "very late activation protein", "late activation protein 2", "activation protein 2 receptor", "2 receptor alpha", "receptor alpha 2", "very late activation protein 2", "late activation protein 2 receptor", "protein 2 receptor alpha", "2 receptor alpha 2", "receptor alpha 2 subunit", "activation receptor", "late activation receptor", "activation receptor alpha", "very late activation receptor", "late activation receptor alpha", "activation receptor alpha 2", "very late activation receptor alpha", "late activation receptor alpha 2", "activation receptor alpha 2 subunit", "receptor subunit", "activation receptor subunit", "receptor subunit alpha", "subunit alpha 2", "late activation receptor subunit", "activation receptor subunit alpha", "receptor subunit alpha 2", "very late activation receptor subunit", "late activation receptor subunit alpha", "activation receptor subunit alpha 2" ] }, { "record_id": "MONDO:0980726", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980726", "0980726", "mim:621325", "621325" ] }, { "record_id": "MONDO:0980726", "record_type": "disease", "section": "disease_name", "phraselist": [ "ververi", "brady", "syndrome", "ververi brady", "brady syndrome", "syndrome 2", "ververi brady syndrome", "brady syndrome 2", "ververi brady syndrome 2" ] }, { "record_id": "MONDO:0980726", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980726", "record_type": "disease", "section": "proteins", "phraselist": [ "p49903", "p49903 1", "sps1_human", "np_001182531", "glycoprotein", "sephs1", "seld", "sps1", "sps", "verbras2" ] }, { "record_id": "MONDO:0980726", "record_type": "disease", "section": "proteins", "phraselist": [ "zincore", "component", "sephs1", "zincore component", "component sephs1", "zincore component sephs1", "2.7.9.3", "selenide", "water", "dikinase", "water dikinase", "dikinase 1", "selenide water", "water dikinase 1", "selenide water dikinase", "selenide water dikinase 1", "selenium", "donor", "protein", "selenium donor", "donor protein", "protein 1", "selenium donor protein", "donor protein 1", "selenium donor protein 1", "selenophosphate", "synthase", "selenophosphate synthase", "synthase 1", "selenophosphate synthase 1", "synthetase", "+e9a", "selenophosphate synthetase", "synthetase 1", "1 +e9a", "selenophosphate synthetase 1", "synthetase 1 +e9a", "selenophosphate synthetase 1 +e9a", "+e9", "1 +e9", "synthetase 1 +e9", "selenophosphate synthetase 1 +e9", "delta", "e2", "1 delta", "delta e2", "synthetase 1 delta", "1 delta e2", "selenophosphate synthetase 1 delta", "synthetase 1 delta e2", "selenophosphate synthetase 1 delta e2", "e8", "delta e8", "1 delta e8", "synthetase 1 delta e8", "selenophosphate synthetase 1 delta e8", "major", "1 major", "synthetase 1 major", "selenophosphate synthetase 1 major", "isoform", "sephs1 isoform", "isoform 2", "component sephs1 isoform", "sephs1 isoform 2", "zincore component sephs1 isoform", "component sephs1 isoform 2", "zincore component sephs1 isoform 2" ] }, { "record_id": "MONDO:0980727", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980727", "0980727" ] }, { "record_id": "MONDO:0980727", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "delay", "with", "variable", "cardiac", "and", "renal", "congenital", "anomalies", "dysmorphic", "facies", "developmental delay", "delay with", "with variable", "variable cardiac", "cardiac and", "and renal", "renal congenital", "congenital anomalies", "anomalies and", "and dysmorphic", "dysmorphic facies", "developmental delay with", "delay with variable", "with variable cardiac", "variable cardiac and", "cardiac and renal", "and renal congenital", "renal congenital anomalies", "congenital anomalies and", "anomalies and dysmorphic", "and dysmorphic facies", "developmental delay with variable", "delay with variable cardiac", "with variable cardiac and", "variable cardiac and renal", "cardiac and renal congenital", "and renal congenital anomalies", "renal congenital anomalies and", "congenital anomalies and dysmorphic", "anomalies and dysmorphic facies", "developmental delay with variable cardiac", "delay with variable cardiac and", "with variable cardiac and renal", "variable cardiac and renal congenital", "cardiac and renal congenital anomalies", "and renal congenital anomalies and", "renal congenital anomalies and dysmorphic", "congenital anomalies and dysmorphic facies" ] }, { "record_id": "MONDO:0980728", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980728", "0980728" ] }, { "record_id": "MONDO:0980728", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "delay", "with", "sleep", "apnea", "developmental delay", "delay with", "with sleep", "sleep apnea", "developmental delay with", "delay with sleep", "with sleep apnea", "developmental delay with sleep", "delay with sleep apnea", "developmental delay with sleep apnea" ] }, { "record_id": "MONDO:0980729", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980729", "0980729" ] }, { "record_id": "MONDO:0980729", "record_type": "disease", "section": "disease_name", "phraselist": [ "immunodeficiency", "134", "epstein", "barr", "virus", "specific", "immunodeficiency 134", "epstein barr", "barr virus", "virus specific", "134 epstein", "epstein barr virus", "barr virus specific", "immunodeficiency 134 epstein", "134 epstein barr", "epstein barr virus specific", "immunodeficiency 134 epstein barr", "134 epstein barr virus" ] }, { "record_id": "MONDO:0980729", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980729", "record_type": "disease", "section": "proteins", "phraselist": [ "q6uwb1", "q6uwb1 1", "i27ra_human", "np_004834", "glycoprotein", "il27ra", "crl1", "il", "27ra", "il 27ra", "il27r", "pro336", "tccr", "wsx1", "zcytor1" ] }, { "record_id": "MONDO:0980729", "record_type": "disease", "section": "proteins", "phraselist": [ "interleukin", "27", "receptor", "subunit", "alpha", "interleukin 27", "27 receptor", "receptor subunit", "subunit alpha", "interleukin 27 receptor", "27 receptor subunit", "receptor subunit alpha", "interleukin 27 receptor subunit", "27 receptor subunit alpha", "interleukin 27 receptor subunit alpha", "cytokine", "wsx", "cytokine receptor", "receptor wsx", "wsx 1", "cytokine receptor wsx", "receptor wsx 1", "cytokine receptor wsx 1", "like", "receptor like", "like 1", "cytokine receptor like", "receptor like 1", "cytokine receptor like 1", "il", "il 27", "il 27 receptor", "il 27 receptor subunit", "il 27 receptor subunit alpha", "27r", "il 27r", "27r subunit", "il 27r subunit", "27r subunit alpha", "il 27r subunit alpha", "27r alpha", "il 27r alpha", "27ra", "il 27ra", "cell", "type", "t cell", "cell cytokine", "receptor type", "type 1", "t cell cytokine", "cell cytokine receptor", "cytokine receptor type", "receptor type 1", "t cell cytokine receptor", "cell cytokine receptor type", "cytokine receptor type 1", "t cell cytokine receptor type", "cell cytokine receptor type 1", "tccr", "type i", "i t", "type i t", "i t cell", "type i t cell", "i t cell cytokine", "type i t cell cytokine", "i t cell cytokine receptor", "zcytor1", "class", "class i", "i cytokine", "class i cytokine", "i cytokine receptor", "class i cytokine receptor", "receptor alpha", "27 receptor alpha", "interleukin 27 receptor alpha", "precursor", "alpha precursor", "subunit alpha precursor", "receptor subunit alpha precursor", "27 receptor subunit alpha precursor" ] }, { "record_id": "MONDO:0980746", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980746", "0980746" ] }, { "record_id": "MONDO:0980746", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "autosomal", "recessive", "84", "intellectual developmental", "developmental disorder", "autosomal recessive", "recessive 84", "intellectual developmental disorder", "disorder autosomal", "autosomal recessive 84", "developmental disorder autosomal", "disorder autosomal recessive", "intellectual developmental disorder autosomal", "developmental disorder autosomal recessive", "disorder autosomal recessive 84" ] }, { "record_id": "MONDO:0980746", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980746", "record_type": "disease", "section": "proteins", "phraselist": [ "q96hu1", "q96hu1 1", "sgsm3_human", "np_001288778", "sgsm3", "cip85", "map", "mrt84", "rabgap5", "rabgaplp", "rusc3", "rutbc3", "rabgap", "rabgap 5" ] }, { "record_id": "MONDO:0980746", "record_type": "disease", "section": "proteins", "phraselist": [ "small", "protein", "signaling", "modulator", "small g", "g protein", "protein signaling", "signaling modulator", "modulator 3", "small g protein", "g protein signaling", "protein signaling modulator", "signaling modulator 3", "small g protein signaling", "g protein signaling modulator", "protein signaling modulator 3", "small g protein signaling modulator", "g protein signaling modulator 3", "merlin", "associated", "merlin associated", "associated protein", "merlin associated protein", "run", "and", "sh3", "containing", "run and", "and sh3", "sh3 containing", "containing 3", "run and sh3", "and sh3 containing", "sh3 containing 3", "run and sh3 containing", "and sh3 containing 3", "run and sh3 containing 3", "tbc1", "domain", "and tbc1", "tbc1 domain", "domain containing", "run and tbc1", "and tbc1 domain", "tbc1 domain containing", "domain containing 3", "run and tbc1 domain", "and tbc1 domain containing", "tbc1 domain containing 3", "run and tbc1 domain containing", "and tbc1 domain containing 3", "containing protein", "protein 3", "domain containing protein", "containing protein 3", "tbc1 domain containing protein", "domain containing protein 3", "and tbc1 domain containing protein", "tbc1 domain containing protein 3", "rab", "gtpase", "activating", "like", "rab gtpase", "gtpase activating", "activating protein", "protein like", "like protein", "rab gtpase activating", "gtpase activating protein", "activating protein like", "protein like protein", "rab gtpase activating protein", "gtpase activating protein like", "activating protein like protein", "rab gtpase activating protein like", "gtpase activating protein like protein", "rabgap", "rabgap 5", "rabgaplp", "binding", "merlin binding", "binding protein", "merlin binding protein", "isoform", "3 isoform", "isoform 2", "modulator 3 isoform", "3 isoform 2", "signaling modulator 3 isoform", "modulator 3 isoform 2", "protein signaling modulator 3 isoform", "signaling modulator 3 isoform 2", "3 protein", "modulator 3 protein", "signaling modulator 3 protein", "protein signaling modulator 3 protein" ] }, { "record_id": "MONDO:0980748", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980748", "0980748" ] }, { "record_id": "MONDO:0980748", "record_type": "disease", "section": "disease_name", "phraselist": [ "intellectual", "developmental", "disorder", "autosomal", "dominant", "77", "intellectual developmental", "developmental disorder", "autosomal dominant", "dominant 77", "intellectual developmental disorder", "disorder autosomal", "autosomal dominant 77", "developmental disorder autosomal", "disorder autosomal dominant", "intellectual developmental disorder autosomal", "developmental disorder autosomal dominant", "disorder autosomal dominant 77" ] }, { "record_id": "MONDO:0980748", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980748", "record_type": "disease", "section": "proteins", "phraselist": [ "q96nw7", "q96nw7 4", "lrrc7_human", "np_001357714", "glycoprotein", "lrrc7", "densin", "kiaa1365", "lap1", "mrd77" ] }, { "record_id": "MONDO:0980748", "record_type": "disease", "section": "proteins", "phraselist": [ "leucine", "rich", "repeat", "containing", "protein", "leucine rich", "rich repeat", "repeat containing", "containing protein", "protein 7", "leucine rich repeat", "rich repeat containing", "repeat containing protein", "containing protein 7", "leucine rich repeat containing", "rich repeat containing protein", "repeat containing protein 7", "leucine rich repeat containing protein", "rich repeat containing protein 7", "densin", "180", "densin 180", "lap1", "protein lap1", "isoform", "11", "7 isoform", "isoform 11", "protein 7 isoform", "7 isoform 11", "containing protein 7 isoform", "protein 7 isoform 11", "repeat containing protein 7 isoform", "containing protein 7 isoform 11" ] }, { "record_id": "MONDO:0980749", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980749", "0980749" ] }, { "record_id": "MONDO:0980749", "record_type": "disease", "section": "disease_name", "phraselist": [ "apolipoprotein", "ii", "deficiency", "apolipoprotein a", "a ii", "ii deficiency", "apolipoprotein a ii", "a ii deficiency", "apolipoprotein a ii deficiency" ] }, { "record_id": "MONDO:0980749", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980749", "record_type": "disease", "section": "proteins", "phraselist": [ "p02652", "p02652 1", "apoa2_human", "np_001634", "glycoprotein", "apoa2", "apoa2d", "apo", "aii", "apo aii", "apoa", "ii", "apoa ii", "apoaii" ] }, { "record_id": "MONDO:0980749", "record_type": "disease", "section": "proteins", "phraselist": [ "apolipoprotein", "ii", "apolipoprotein a", "a ii", "apolipoprotein a ii", "apo", "aii", "apo aii", "apoa", "apoa ii", "76", "ii 1", "1 76", "a ii 1", "ii 1 76", "apolipoprotein a ii 1", "a ii 1 76", "apolipoprotein a ii 1 76", "a2", "apolipoprotein a2", "preproprotein", "ii preproprotein", "a ii preproprotein", "apolipoprotein a ii preproprotein" ] }, { "record_id": "MONDO:0980751", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980751", "0980751" ] }, { "record_id": "MONDO:0980751", "record_type": "disease", "section": "disease_name", "phraselist": [ "ramond", "elliott", "neurodevelopmental", "syndrome", "ramond elliott", "elliott neurodevelopmental", "neurodevelopmental syndrome", "ramond elliott neurodevelopmental", "elliott neurodevelopmental syndrome", "ramond elliott neurodevelopmental syndrome" ] }, { "record_id": "MONDO:0980752", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980752", "0980752" ] }, { "record_id": "MONDO:0980752", "record_type": "disease", "section": "disease_name", "phraselist": [ "leukoencephalopathy", "without", "lacunae", "adult", "onset", "leukoencephalopathy without", "without lacunae", "adult onset", "leukoencephalopathy without lacunae", "lacunae adult", "without lacunae adult", "lacunae adult onset", "leukoencephalopathy without lacunae adult", "without lacunae adult onset" ] }, { "record_id": "MONDO:0980755", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980755", "0980755" ] }, { "record_id": "MONDO:0980755", "record_type": "disease", "section": "disease_name", "phraselist": [ "mitochondrial", "complex", "iv", "deficiency", "nuclear", "type", "24", "mitochondrial complex", "complex iv", "iv deficiency", "nuclear type", "type 24", "mitochondrial complex iv", "complex iv deficiency", "deficiency nuclear", "nuclear type 24", "mitochondrial complex iv deficiency", "iv deficiency nuclear", "deficiency nuclear type", "complex iv deficiency nuclear", "iv deficiency nuclear type", "deficiency nuclear type 24" ] }, { "record_id": "MONDO:0980755", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980755", "record_type": "disease", "section": "proteins", "phraselist": [ "q7l8l6", "q7l8l6 1", "fakd5_human", "np_068598", "glycoprotein", "fastkd5", "kiaa1792", "mc4dn24", "dj1187m17.5" ] }, { "record_id": "MONDO:0980755", "record_type": "disease", "section": "proteins", "phraselist": [ "non", "canonical", "pre", "mrnas", "endonuclease", "fastkd5", "mitochondrial", "non canonical", "canonical pre", "pre mrnas", "mrnas endonuclease", "endonuclease fastkd5", "non canonical pre", "canonical pre mrnas", "pre mrnas endonuclease", "mrnas endonuclease fastkd5", "fastkd5 mitochondrial", "non canonical pre mrnas", "canonical pre mrnas endonuclease", "pre mrnas endonuclease fastkd5", "endonuclease fastkd5 mitochondrial", "non canonical pre mrnas endonuclease", "canonical pre mrnas endonuclease fastkd5", "mrnas endonuclease fastkd5 mitochondrial", "3.1.27.", "fast", "kinase", "domain", "containing", "protein", "fast kinase", "kinase domain", "domain containing", "containing protein", "protein 5", "fast kinase domain", "kinase domain containing", "domain containing protein", "containing protein 5", "5 mitochondrial", "fast kinase domain containing", "kinase domain containing protein", "domain containing protein 5", "protein 5 mitochondrial", "fast kinase domain containing protein", "kinase domain containing protein 5", "containing protein 5 mitochondrial" ] }, { "record_id": "MONDO:0980763", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980763", "0980763" ] }, { "record_id": "MONDO:0980763", "record_type": "disease", "section": "disease_name", "phraselist": [ "dental", "radicular", "dysplasia", "dental radicular", "radicular dysplasia", "dental radicular dysplasia" ] }, { "record_id": "MONDO:0980935", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980935", "0980935" ] }, { "record_id": "MONDO:0980935", "record_type": "disease", "section": "disease_name", "phraselist": [ "microcephaly", "progressive", "with", "simplified", "gyral", "pattern", "and", "cerebellar", "hypoplasia", "with simplified", "simplified gyral", "gyral pattern", "pattern and", "and cerebellar", "cerebellar hypoplasia", "microcephaly progressive", "progressive with", "with simplified gyral", "simplified gyral pattern", "gyral pattern and", "pattern and cerebellar", "and cerebellar hypoplasia", "progressive with simplified", "with simplified gyral pattern", "simplified gyral pattern and", "gyral pattern and cerebellar", "pattern and cerebellar hypoplasia", "microcephaly progressive with", "progressive with simplified gyral", "with simplified gyral pattern and", "simplified gyral pattern and cerebellar", "gyral pattern and cerebellar hypoplasia" ] }, { "record_id": "MONDO:0980936", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980936", "0980936" ] }, { "record_id": "MONDO:0980936", "record_type": "disease", "section": "disease_name", "phraselist": [ "neutropenia", "severe", "congenital", "12", "autosomal", "recessive", "severe congenital", "autosomal recessive", "neutropenia severe", "congenital 12", "12 autosomal", "neutropenia severe congenital", "severe congenital 12", "12 autosomal recessive", "congenital 12 autosomal" ] }, { "record_id": "MONDO:0980936", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980936", "record_type": "disease", "section": "proteins", "phraselist": [ "p61923", "p61923 1", "copz1_human", "np_001258663", "glycoprotein", "copz1", "cgi", "120", "cgi 120", "copz", "hspc181", "scn12", "zeta", "cop", "zeta cop", "zeta1", "zeta1 cop" ] }, { "record_id": "MONDO:0980936", "record_type": "disease", "section": "proteins", "phraselist": [ "coatomer", "subunit", "zeta", "coatomer subunit", "subunit zeta", "zeta 1", "coatomer subunit zeta", "subunit zeta 1", "coatomer subunit zeta 1", "copi", "coat", "complex", "copi coat", "coat complex", "complex subunit", "copi coat complex", "coat complex subunit", "complex subunit zeta", "copi coat complex subunit", "coat complex subunit zeta", "complex subunit zeta 1", "copi coat complex subunit zeta", "coat complex subunit zeta 1", "cop", "1 cop", "zeta 1 cop", "protein", "1 coat", "coat protein", "zeta 1 coat", "1 coat protein", "zeta 1 coat protein", "coatomer protein", "protein complex", "coatomer protein complex", "protein complex subunit", "coatomer protein complex subunit", "protein complex subunit zeta", "coatomer protein complex subunit zeta", "protein complex subunit zeta 1", "isoform", "1 isoform", "isoform 2", "zeta 1 isoform", "1 isoform 2", "subunit zeta 1 isoform", "zeta 1 isoform 2", "coatomer subunit zeta 1 isoform", "subunit zeta 1 isoform 2" ] }, { "record_id": "MONDO:0980937", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980937", "0980937" ] }, { "record_id": "MONDO:0980937", "record_type": "disease", "section": "disease_name", "phraselist": [ "oculopharyngodistal", "myopathy", "oculopharyngodistal myopathy", "myopathy 5", "oculopharyngodistal myopathy 5" ] }, { "record_id": "MONDO:0980937", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980937", "record_type": "disease", "section": "proteins", "phraselist": [ "p28288", "p28288 1", "abcd3_human", "np_001116146", "glycoprotein", "abcd3", "abc43", "cbas5", "opdm5", "pmp70", "pxmp1", "zws2" ] }, { "record_id": "MONDO:0980937", "record_type": "disease", "section": "proteins", "phraselist": [ "atp", "binding", "cassette", "sub", "family", "member", "atp binding", "binding cassette", "cassette sub", "sub family", "family d", "d member", "member 3", "atp binding cassette", "binding cassette sub", "cassette sub family", "sub family d", "family d member", "d member 3", "atp binding cassette sub", "binding cassette sub family", "cassette sub family d", "sub family d member", "family d member 3", "atp binding cassette sub family", "binding cassette sub family d", "cassette sub family d member", "sub family d member 3", "3.1.2.", "7.6.2.", "70", "kda", "peroxisomal", "membrane", "protein", "70 kda", "kda peroxisomal", "peroxisomal membrane", "membrane protein", "70 kda peroxisomal", "kda peroxisomal membrane", "peroxisomal membrane protein", "70 kda peroxisomal membrane", "kda peroxisomal membrane protein", "70 kda peroxisomal membrane protein", "isoform", "3 isoform", "isoform b", "member 3 isoform", "3 isoform b", "d member 3 isoform", "member 3 isoform b", "family d member 3 isoform", "d member 3 isoform b", "pmp70", "70kd", "protein 1", "membrane protein 1", "1 70kd", "peroxisomal membrane protein 1", "protein 1 70kd", "membrane protein 1 70kd", "dj824o18.1", "ald", "pxmp1", "dj824o18.1 atp", "d ald", "3 pmp70", "pmp70 pxmp1", "dj824o18.1 atp binding", "family d ald", "ald member", "member 3 pmp70", "dj824o18.1 atp binding cassette", "sub family d ald", "ald member 3", "3 pmp70 pxmp1", "zellweger", "syndrome", "zellweger syndrome", "70kd zellweger", "70kd zellweger syndrome", "1 70kd zellweger", "protein 70", "membrane protein 70", "protein 70 kda", "peroxisomal membrane protein 70", "membrane protein 70 kda", "peroxisomal membrane protein 70 kda" ] }, { "record_id": "MONDO:0980938", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980938", "0980938" ] }, { "record_id": "MONDO:0980938", "record_type": "disease", "section": "disease_name", "phraselist": [ "osteopetrosis", "autosomal", "dominant", "autosomal dominant", "dominant 4", "osteopetrosis autosomal", "autosomal dominant 4", "osteopetrosis autosomal dominant", "osteopetrosis autosomal dominant 4" ] }, { "record_id": "MONDO:0980938", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980938", "record_type": "disease", "section": "proteins", "phraselist": [ "o75581", "o75581 1", "lrp6_human", "np_002327", "glycoprotein", "lrp6", "adcad2", "evr8", "opta4", "sthag7" ] }, { "record_id": "MONDO:0980938", "record_type": "disease", "section": "proteins", "phraselist": [ "low", "density", "lipoprotein", "receptor", "related", "protein", "low density", "density lipoprotein", "lipoprotein receptor", "receptor related", "related protein", "protein 6", "low density lipoprotein", "density lipoprotein receptor", "lipoprotein receptor related", "receptor related protein", "related protein 6", "low density lipoprotein receptor", "density lipoprotein receptor related", "lipoprotein receptor related protein", "receptor related protein 6", "low density lipoprotein receptor related", "density lipoprotein receptor related protein", "lipoprotein receptor related protein 6", "lrp", "lrp 6", "isoform", "precursor", "6 isoform", "isoform b", "b precursor", "protein 6 isoform", "6 isoform b", "isoform b precursor", "related protein 6 isoform", "protein 6 isoform b", "6 isoform b precursor", "receptor related protein 6 isoform", "related protein 6 isoform b", "protein 6 isoform b precursor" ] }, { "record_id": "MONDO:0980939", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980939", "0980939" ] }, { "record_id": "MONDO:0980939", "record_type": "disease", "section": "disease_name", "phraselist": [ "basal", "ganglia", "calcification", "idiopathic", "11", "autosomal", "recessive", "basal ganglia", "ganglia calcification", "autosomal recessive", "basal ganglia calcification", "calcification idiopathic", "idiopathic 11", "11 autosomal", "ganglia calcification idiopathic", "11 autosomal recessive", "basal ganglia calcification idiopathic", "calcification idiopathic 11", "idiopathic 11 autosomal" ] }, { "record_id": "MONDO:0980939", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980939", "record_type": "disease", "section": "proteins", "phraselist": [ "q5jth9", "q5jth9 1", "rrp12_human", "np_001138586", "glycoprotein", "rrp12", "ibgc11", "kiaa0690" ] }, { "record_id": "MONDO:0980939", "record_type": "disease", "section": "proteins", "phraselist": [ "rrp12", "like", "protein", "rrp12 like", "like protein", "rrp12 like protein", "isoform", "protein isoform", "isoform 2", "like protein isoform", "protein isoform 2", "rrp12 like protein isoform", "like protein isoform 2", "rrp12 like protein isoform 2" ] }, { "record_id": "MONDO:0980947", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980947", "0980947" ] }, { "record_id": "MONDO:0980947", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "spasticity", "thin", "corpus", "callosum", "and", "decreased", "brain", "white", "matter", "neurodevelopmental disorder", "disorder with", "with spasticity", "thin corpus", "corpus callosum", "and decreased", "decreased brain", "brain white", "white matter", "neurodevelopmental disorder with", "disorder with spasticity", "spasticity thin", "thin corpus callosum", "callosum and", "and decreased brain", "decreased brain white", "brain white matter", "neurodevelopmental disorder with spasticity", "with spasticity thin", "spasticity thin corpus", "corpus callosum and", "callosum and decreased", "and decreased brain white", "decreased brain white matter", "disorder with spasticity thin", "with spasticity thin corpus", "spasticity thin corpus callosum", "thin corpus callosum and", "corpus callosum and decreased", "callosum and decreased brain", "and decreased brain white matter" ] }, { "record_id": "MONDO:0980948", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980948", "0980948" ] }, { "record_id": "MONDO:0980948", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "and", "epileptic", "encephalopathy", "120", "developmental and", "and epileptic", "epileptic encephalopathy", "encephalopathy 120", "developmental and epileptic", "and epileptic encephalopathy", "epileptic encephalopathy 120", "developmental and epileptic encephalopathy", "and epileptic encephalopathy 120", "developmental and epileptic encephalopathy 120" ] }, { "record_id": "MONDO:0980949", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980949", "0980949" ] }, { "record_id": "MONDO:0980949", "record_type": "disease", "section": "disease_name", "phraselist": [ "moyamoya", "disease", "moyamoya disease", "disease 8", "moyamoya disease 8" ] }, { "record_id": "MONDO:0980949", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980949", "record_type": "disease", "section": "proteins", "phraselist": [ "p29474", "p29474 1", "nos3_human", "np_000594", "glycoprotein", "nos3", "ec", "nos", "ec nos", "ecnos", "mymy8", "nosiii", "cnos", "enos" ] }, { "record_id": "MONDO:0980949", "record_type": "disease", "section": "proteins", "phraselist": [ "nitric", "oxide", "synthase", "nitric oxide", "oxide synthase", "synthase 3", "nitric oxide synthase", "oxide synthase 3", "nitric oxide synthase 3", "1.14.13.39", "constitutive", "nos", "constitutive nos", "ec", "ec nos", "endothelial", "endothelial nos", "type", "iii", "nos type", "type iii", "nos type iii", "nosiii", "synthase endothelial", "oxide synthase endothelial", "nitric oxide synthase endothelial", "cnos", "enos", "cell", "endothelial cell", "3 endothelial", "synthase 3 endothelial", "3 endothelial cell", "oxide synthase 3 endothelial", "synthase 3 endothelial cell", "isoform", "3 isoform", "isoform 1", "synthase 3 isoform", "3 isoform 1", "oxide synthase 3 isoform", "synthase 3 isoform 1", "nitric oxide synthase 3 isoform", "oxide synthase 3 isoform 1" ] }, { "record_id": "MONDO:0980964", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980964", "0980964" ] }, { "record_id": "MONDO:0980964", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte/zygote/embryo", "maturation", "arrest", "25", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 25", "oocyte/zygote/embryo maturation arrest", "maturation arrest 25", "oocyte/zygote/embryo maturation arrest 25" ] }, { "record_id": "MONDO:0980964", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980964", "record_type": "disease", "section": "proteins", "phraselist": [ "q8wx94", "q8wx94 1", "nalp7_human", "np_001120727", "nlrp7", "clr19.4", "hydm", "nalp7", "nod12", "ozema25", "pan7", "pypaf3" ] }, { "record_id": "MONDO:0980964", "record_type": "disease", "section": "proteins", "phraselist": [ "nacht", "lrr", "and", "pyd", "domains", "containing", "protein", "lrr and", "and pyd", "pyd domains", "domains containing", "containing protein", "protein 7", "nacht lrr", "lrr and pyd", "and pyd domains", "pyd domains containing", "domains containing protein", "containing protein 7", "nacht lrr and", "lrr and pyd domains", "and pyd domains containing", "pyd domains containing protein", "domains containing protein 7", "nacht lrr and pyd", "lrr and pyd domains containing", "and pyd domains containing protein", "pyd domains containing protein 7", "pyd containing", "and pyd containing", "pyd containing protein", "lrr and pyd containing", "and pyd containing protein", "pyd containing protein 7", "lrr and pyd containing protein", "and pyd containing protein 7", "isoform", "7 isoform", "isoform 3", "protein 7 isoform", "7 isoform 3", "containing protein 7 isoform", "protein 7 isoform 3", "domains containing protein 7 isoform", "containing protein 7 isoform 3", "leucine", "rich", "repeat", "leucine rich", "rich repeat", "repeat and", "containing 7", "nacht leucine", "leucine rich repeat", "rich repeat and", "repeat and pyd", "pyd containing 7", "nacht leucine rich", "leucine rich repeat and", "rich repeat and pyd", "repeat and pyd containing", "and pyd containing 7", "nacht leucine rich repeat", "leucine rich repeat and pyd", "rich repeat and pyd containing", "repeat and pyd containing 7", "nucleotide", "binding", "oligomerization", "domain", "12", "nucleotide binding", "binding oligomerization", "oligomerization domain", "domain protein", "protein 12", "nucleotide binding oligomerization", "binding oligomerization domain", "oligomerization domain protein", "domain protein 12", "nucleotide binding oligomerization domain", "binding oligomerization domain protein", "oligomerization domain protein 12", "nucleotide binding oligomerization domain protein", "binding oligomerization domain protein 12", "pyrin", "apaf1", "like", "pyrin containing", "containing apaf1", "apaf1 like", "like protein", "protein 3", "pyrin containing apaf1", "containing apaf1 like", "apaf1 like protein", "like protein 3", "pyrin containing apaf1 like", "containing apaf1 like protein", "apaf1 like protein 3", "pyrin containing apaf1 like protein", "containing apaf1 like protein 3", "and pyrin", "pyrin domain", "domain containing", "domain leucine", "repeat and pyrin", "and pyrin domain", "pyrin domain containing", "domain containing 7", "oligomerization domain leucine", "domain leucine rich", "rich repeat and pyrin", "repeat and pyrin domain", "and pyrin domain containing", "pyrin domain containing 7", "binding oligomerization domain leucine", "oligomerization domain leucine rich", "domain leucine rich repeat", "leucine rich repeat and pyrin", "rich repeat and pyrin domain", "repeat and pyrin domain containing", "and pyrin domain containing 7" ] }, { "record_id": "MONDO:0980965", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980965", "0980965" ] }, { "record_id": "MONDO:0980965", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "congenital", "cardiac", "defects", "and", "variable", "renal", "ocular", "abnormalities", "neurodevelopmental disorder", "disorder with", "with congenital", "congenital cardiac", "cardiac defects", "defects and", "and variable", "variable renal", "renal and", "and ocular", "ocular abnormalities", "neurodevelopmental disorder with", "disorder with congenital", "with congenital cardiac", "congenital cardiac defects", "cardiac defects and", "defects and variable", "and variable renal", "variable renal and", "renal and ocular", "and ocular abnormalities", "neurodevelopmental disorder with congenital", "disorder with congenital cardiac", "with congenital cardiac defects", "congenital cardiac defects and", "cardiac defects and variable", "defects and variable renal", "and variable renal and", "variable renal and ocular", "renal and ocular abnormalities", "neurodevelopmental disorder with congenital cardiac", "disorder with congenital cardiac defects", "with congenital cardiac defects and", "congenital cardiac defects and variable", "cardiac defects and variable renal", "defects and variable renal and", "and variable renal and ocular", "variable renal and ocular abnormalities" ] }, { "record_id": "MONDO:0980966", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980966", "0980966" ] }, { "record_id": "MONDO:0980966", "record_type": "disease", "section": "disease_name", "phraselist": [ "developmental", "and", "epileptic", "encephalopathy", "121", "developmental and", "and epileptic", "epileptic encephalopathy", "encephalopathy 121", "developmental and epileptic", "and epileptic encephalopathy", "epileptic encephalopathy 121", "developmental and epileptic encephalopathy", "and epileptic encephalopathy 121", "developmental and epileptic encephalopathy 121" ] }, { "record_id": "MONDO:0980967", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980967", "0980967" ] }, { "record_id": "MONDO:0980967", "record_type": "disease", "section": "disease_name", "phraselist": [ "mitochondrial", "dna", "depletion", "syndrome", "14a", "encephalomyopathic", "type", "mitochondrial dna", "dna depletion", "depletion syndrome", "syndrome 14a", "encephalomyopathic type", "mitochondrial dna depletion", "dna depletion syndrome", "depletion syndrome 14a", "14a encephalomyopathic", "mitochondrial dna depletion syndrome", "dna depletion syndrome 14a", "syndrome 14a encephalomyopathic", "14a encephalomyopathic type", "mitochondrial dna depletion syndrome 14a", "depletion syndrome 14a encephalomyopathic", "syndrome 14a encephalomyopathic type" ] }, { "record_id": "MONDO:0980967", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980967", "record_type": "disease", "section": "proteins", "phraselist": [ "o60313", "o60313 1", "opa1_human", "np_056375", "glycoprotein", "opa1", "berhs", "kiaa0567", "mgm1", "mtdps14a", "mtdps14b", "mtdps14", "npg", "ntg", "largeg" ] }, { "record_id": "MONDO:0980967", "record_type": "disease", "section": "proteins", "phraselist": [ "dynamin", "like", "gtpase", "opa1", "mitochondrial", "dynamin like", "like gtpase", "gtpase opa1", "dynamin like gtpase", "like gtpase opa1", "opa1 mitochondrial", "dynamin like gtpase opa1", "gtpase opa1 mitochondrial", "like gtpase opa1 mitochondrial", "3.6.5.5", "optic", "atrophy", "protein", "optic atrophy", "atrophy protein", "protein 1", "optic atrophy protein", "atrophy protein 1", "optic atrophy protein 1", "120", "kda", "like 120", "120 kda", "kda protein", "dynamin like 120", "like 120 kda", "120 kda protein", "protein mitochondrial", "dynamin like 120 kda", "like 120 kda protein", "kda protein mitochondrial", "dynamin like 120 kda protein", "120 kda protein mitochondrial", "isoform", "preproprotein", "mitochondrial isoform", "isoform 1", "1 preproprotein", "mitochondrial isoform 1", "isoform 1 preproprotein", "opa1 mitochondrial isoform", "mitochondrial isoform 1 preproprotein", "gtpase opa1 mitochondrial isoform", "opa1 mitochondrial isoform 1", "guanosine", "triphosphatase", "like guanosine", "guanosine triphosphatase", "dynamin like guanosine", "like guanosine triphosphatase", "dynamin like guanosine triphosphatase", "mitochondrial dynamin", "mitochondrial dynamin like", "mitochondrial dynamin like gtpase", "autosomal", "dominant", "atrophy 1", "autosomal dominant", "optic atrophy 1", "1 autosomal", "atrophy 1 autosomal", "1 autosomal dominant", "optic atrophy 1 autosomal", "atrophy 1 autosomal dominant" ] }, { "record_id": "MONDO:0980968", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980968", "0980968" ] }, { "record_id": "MONDO:0980968", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurodevelopmental", "disorder", "with", "seizures", "hypotonia", "and", "variable", "spasticity", "neurodevelopmental disorder", "disorder with", "with seizures", "and variable", "variable spasticity", "neurodevelopmental disorder with", "disorder with seizures", "seizures hypotonia", "hypotonia and", "and variable spasticity", "neurodevelopmental disorder with seizures", "with seizures hypotonia", "hypotonia and variable", "disorder with seizures hypotonia", "seizures hypotonia and", "hypotonia and variable spasticity" ] }, { "record_id": "MONDO:0980969", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980969", "0980969" ] }, { "record_id": "MONDO:0980969", "record_type": "disease", "section": "disease_name", "phraselist": [ "charcot", "marie", "tooth", "disease", "axonal", "type", "2ll", "charcot marie", "marie tooth", "tooth disease", "type 2ll", "charcot marie tooth", "marie tooth disease", "disease axonal", "axonal type", "charcot marie tooth disease", "tooth disease axonal", "axonal type 2ll", "marie tooth disease axonal", "disease axonal type" ] }, { "record_id": "MONDO:0980969", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980969", "record_type": "disease", "section": "proteins", "phraselist": [ "q6pi48", "q6pi48 1", "sydm_human", "np_060592", "glycoprotein", "dars2", "asprs", "cmt2ll", "lbsl", "mt", "mt asprs", "mtasprs" ] }, { "record_id": "MONDO:0980969", "record_type": "disease", "section": "proteins", "phraselist": [ "aspartate", "trna", "ligase", "mitochondrial", "trna ligase", "aspartate trna", "ligase mitochondrial", "aspartate trna ligase", "trna ligase mitochondrial", "6.1.1.12", "asprs", "aspartyl", "synthetase", "aspartyl trna", "trna synthetase", "aspartyl trna synthetase", "ligase 2", "trna ligase 2", "2 mitochondrial", "aspartate trna ligase 2", "ligase 2 mitochondrial", "trna ligase 2 mitochondrial", "isoform", "mitochondrial isoform", "isoform 1", "mitochondrial isoform 1", "ligase mitochondrial isoform", "trna ligase mitochondrial isoform", "ligase mitochondrial isoform 1", "synthetase mitochondrial", "trna synthetase mitochondrial", "aspartyl trna synthetase mitochondrial" ] }, { "record_id": "MONDO:0980970", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980970", "0980970" ] }, { "record_id": "MONDO:0980970", "record_type": "disease", "section": "disease_name", "phraselist": [ "mitochondrial", "complex", "deficiency", "nuclear", "type", "25", "mitochondrial complex", "complex 4", "4 deficiency", "nuclear type", "type 25", "mitochondrial complex 4", "complex 4 deficiency", "deficiency nuclear", "nuclear type 25", "mitochondrial complex 4 deficiency", "4 deficiency nuclear", "deficiency nuclear type", "complex 4 deficiency nuclear", "4 deficiency nuclear type", "deficiency nuclear type 25" ] }, { "record_id": "MONDO:0980970", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980970", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n8q8", "q8n8q8 1", "cox18_human", "np_001284662", "glycoprotein", "cox18", "cmt2mm", "cox18hs", "mc4dn25", "oxa1l2" ] }, { "record_id": "MONDO:0980970", "record_type": "disease", "section": "proteins", "phraselist": [ "cytochrome", "oxidase", "assembly", "protein", "cox18", "mitochondrial", "cytochrome c", "c oxidase", "oxidase assembly", "assembly protein", "protein cox18", "cytochrome c oxidase", "c oxidase assembly", "oxidase assembly protein", "assembly protein cox18", "cox18 mitochondrial", "cytochrome c oxidase assembly", "c oxidase assembly protein", "oxidase assembly protein cox18", "protein cox18 mitochondrial", "cytochrome c oxidase assembly protein", "c oxidase assembly protein cox18", "assembly protein cox18 mitochondrial", "factor", "assembly factor", "cox18 cytochrome", "oxidase assembly factor", "cox18 cytochrome c", "c oxidase assembly factor", "cox18 cytochrome c oxidase", "cytochrome c oxidase assembly factor", "cox18hs", "18", "protein 18", "assembly protein 18", "oxidase assembly protein 18", "c oxidase assembly protein 18", "homolog", "assembly homolog", "homolog 18", "oxidase assembly homolog", "assembly homolog 18", "c oxidase assembly homolog", "oxidase assembly homolog 18", "cytochrome c oxidase assembly homolog", "c oxidase assembly homolog 18", "isoform", "mitochondrial isoform", "isoform 3", "mitochondrial isoform 3", "cox18 mitochondrial isoform", "protein cox18 mitochondrial isoform", "cox18 mitochondrial isoform 3", "inner", "membrane", "mitochondrial inner", "inner membrane", "membrane protein", "mitochondrial inner membrane", "inner membrane protein", "membrane protein cox18", "mitochondrial inner membrane protein", "inner membrane protein cox18", "mitochondrial inner membrane protein cox18" ] }, { "record_id": "MONDO:0980971", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980971", "0980971" ] }, { "record_id": "MONDO:0980971", "record_type": "disease", "section": "disease_name", "phraselist": [ "charcot", "marie", "tooth", "disease", "axonal", "type", "2mm", "charcot marie", "marie tooth", "tooth disease", "type 2mm", "charcot marie tooth", "marie tooth disease", "disease axonal", "axonal type", "charcot marie tooth disease", "tooth disease axonal", "axonal type 2mm", "marie tooth disease axonal", "disease axonal type" ] }, { "record_id": "MONDO:0980971", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980971", "record_type": "disease", "section": "proteins", "phraselist": [ "q8n8q8", "q8n8q8 1", "cox18_human", "np_001284662", "glycoprotein", "cox18", "cmt2mm", "cox18hs", "mc4dn25", "oxa1l2" ] }, { "record_id": "MONDO:0980971", "record_type": "disease", "section": "proteins", "phraselist": [ "cytochrome", "oxidase", "assembly", "protein", "cox18", "mitochondrial", "cytochrome c", "c oxidase", "oxidase assembly", "assembly protein", "protein cox18", "cytochrome c oxidase", "c oxidase assembly", "oxidase assembly protein", "assembly protein cox18", "cox18 mitochondrial", "cytochrome c oxidase assembly", "c oxidase assembly protein", "oxidase assembly protein cox18", "protein cox18 mitochondrial", "cytochrome c oxidase assembly protein", "c oxidase assembly protein cox18", "assembly protein cox18 mitochondrial", "factor", "assembly factor", "cox18 cytochrome", "oxidase assembly factor", "cox18 cytochrome c", "c oxidase assembly factor", "cox18 cytochrome c oxidase", "cytochrome c oxidase assembly factor", "cox18hs", "18", "protein 18", "assembly protein 18", "oxidase assembly protein 18", "c oxidase assembly protein 18", "homolog", "assembly homolog", "homolog 18", "oxidase assembly homolog", "assembly homolog 18", "c oxidase assembly homolog", "oxidase assembly homolog 18", "cytochrome c oxidase assembly homolog", "c oxidase assembly homolog 18", "isoform", "mitochondrial isoform", "isoform 3", "mitochondrial isoform 3", "cox18 mitochondrial isoform", "protein cox18 mitochondrial isoform", "cox18 mitochondrial isoform 3", "inner", "membrane", "mitochondrial inner", "inner membrane", "membrane protein", "mitochondrial inner membrane", "inner membrane protein", "membrane protein cox18", "mitochondrial inner membrane protein", "inner membrane protein cox18", "mitochondrial inner membrane protein cox18" ] }, { "record_id": "MONDO:0980986", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980986", "0980986" ] }, { "record_id": "MONDO:0980986", "record_type": "disease", "section": "disease_name", "phraselist": [ "scoliosis", "isolated", "susceptibility", "to", "susceptibility to", "scoliosis isolated", "isolated susceptibility", "to 6", "isolated susceptibility to", "susceptibility to 6", "scoliosis isolated susceptibility" ] }, { "record_id": "MONDO:0980986", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980986", "record_type": "disease", "section": "proteins", "phraselist": [ "p48067", "p48067 1", "sc6a9_human", "np_001020016", "glycoprotein", "slc6a9", "gcensg", "glyt1", "is6" ] }, { "record_id": "MONDO:0980986", "record_type": "disease", "section": "proteins", "phraselist": [ "sodium", "and", "chloride", "dependent", "glycine", "transporter", "and chloride", "chloride dependent", "dependent glycine", "glycine transporter", "transporter 1", "sodium and", "and chloride dependent", "chloride dependent glycine", "dependent glycine transporter", "glycine transporter 1", "sodium and chloride", "and chloride dependent glycine", "chloride dependent glycine transporter", "dependent glycine transporter 1", "sodium and chloride dependent", "and chloride dependent glycine transporter", "chloride dependent glycine transporter 1", "glyt", "glyt 1", "glyt1", "solute", "carrier", "family", "member", "solute carrier", "carrier family", "family 6", "6 member", "member 9", "solute carrier family", "carrier family 6", "family 6 member", "6 member 9", "solute carrier family 6", "carrier family 6 member", "family 6 member 9", "solute carrier family 6 member", "carrier family 6 member 9", "isoform", "1 isoform", "isoform 3", "transporter 1 isoform", "1 isoform 3", "glycine transporter 1 isoform", "transporter 1 isoform 3", "dependent glycine transporter 1 isoform", "glycine transporter 1 isoform 3", "neurotransmitter", "neurotransmitter transporter", "6 neurotransmitter", "transporter glycine", "family 6 neurotransmitter", "6 neurotransmitter transporter", "neurotransmitter transporter glycine", "glycine member", "carrier family 6 neurotransmitter", "family 6 neurotransmitter transporter", "glycine member 9" ] }, { "record_id": "MONDO:0980987", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980987", "0980987" ] }, { "record_id": "MONDO:0980987", "record_type": "disease", "section": "disease_name", "phraselist": [ "xeroderma", "pigmentosum", "complementation", "group", "xeroderma pigmentosum", "complementation group", "group j", "pigmentosum complementation", "complementation group j", "xeroderma pigmentosum complementation", "pigmentosum complementation group", "xeroderma pigmentosum complementation group", "pigmentosum complementation group j" ] }, { "record_id": "MONDO:0980987", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980987", "record_type": "disease", "section": "proteins", "phraselist": [ "q92759", "q92759 1", "tf2h4_human", "np_001508", "gtf2h4", "p52", "tfb2", "tfiih", "xpj" ] }, { "record_id": "MONDO:0980987", "record_type": "disease", "section": "proteins", "phraselist": [ "general", "transcription", "factor", "iih", "subunit", "general transcription", "transcription factor", "factor iih", "iih subunit", "subunit 4", "general transcription factor", "transcription factor iih", "factor iih subunit", "iih subunit 4", "general transcription factor iih", "transcription factor iih subunit", "factor iih subunit 4", "general transcription factor iih subunit", "transcription factor iih subunit 4", "btf2", "p52", "btf2 p52", "basic", "52", "kda", "basic transcription", "factor 2", "2 52", "52 kda", "kda subunit", "basic transcription factor", "transcription factor 2", "factor 2 52", "2 52 kda", "52 kda subunit", "basic transcription factor 2", "transcription factor 2 52", "factor 2 52 kda", "2 52 kda subunit", "basic transcription factor 2 52", "transcription factor 2 52 kda", "factor 2 52 kda subunit", "polypeptide", "iih polypeptide", "polypeptide 4", "factor iih polypeptide", "iih polypeptide 4", "transcription factor iih polypeptide", "factor iih polypeptide 4", "general transcription factor iih polypeptide", "transcription factor iih polypeptide 4", "tfiih", "basal", "complex", "tfiih basal", "basal transcription", "factor complex", "complex p52", "p52 subunit", "tfiih basal transcription", "basal transcription factor", "transcription factor complex", "factor complex p52", "complex p52 subunit", "tfiih basal transcription factor", "basal transcription factor complex", "transcription factor complex p52", "factor complex p52 subunit", "tfiih basal transcription factor complex", "basal transcription factor complex p52", "transcription factor complex p52 subunit", "52kda", "4 52kda", "polypeptide 4 52kda" ] }, { "record_id": "MONDO:0980988", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980988", "0980988" ] }, { "record_id": "MONDO:0980988", "record_type": "disease", "section": "disease_name", "phraselist": [ "epilepsy", "idiopathic", "generalized", "20", "idiopathic generalized", "generalized 20", "epilepsy idiopathic", "idiopathic generalized 20", "epilepsy idiopathic generalized", "epilepsy idiopathic generalized 20" ] }, { "record_id": "MONDO:0980988", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980988", "record_type": "disease", "section": "proteins", "phraselist": [ "q15911", "q15911 1", "zfhx3_human", "np_001158238", "glycoprotein", "zfhx3", "atbf1", "atbt", "atfb8", "c16orf47", "eig20", "sca4", "zfh", "zfh 3", "znf927" ] }, { "record_id": "MONDO:0980988", "record_type": "disease", "section": "proteins", "phraselist": [ "zinc", "finger", "homeobox", "protein", "zinc finger", "finger homeobox", "homeobox protein", "protein 3", "zinc finger homeobox", "finger homeobox protein", "homeobox protein 3", "zinc finger homeobox protein", "finger homeobox protein 3", "zinc finger homeobox protein 3", "at", "motif", "binding", "factor", "at motif", "motif binding", "binding factor", "factor 1", "at motif binding", "motif binding factor", "binding factor 1", "at motif binding factor", "motif binding factor 1", "at motif binding factor 1", "transcription", "at binding", "binding transcription", "transcription factor", "at binding transcription", "binding transcription factor", "transcription factor 1", "at binding transcription factor", "binding transcription factor 1", "at binding transcription factor 1", "alpha", "fetoprotein", "enhancer", "alpha fetoprotein", "fetoprotein enhancer", "enhancer binding", "binding protein", "alpha fetoprotein enhancer", "fetoprotein enhancer binding", "enhancer binding protein", "alpha fetoprotein enhancer binding", "fetoprotein enhancer binding protein", "alpha fetoprotein enhancer binding protein", "zfh", "zfh 3", "homeodomain", "finger homeodomain", "homeodomain protein", "zinc finger homeodomain", "finger homeodomain protein", "homeodomain protein 3", "zinc finger homeodomain protein", "finger homeodomain protein 3", "zinc finger homeodomain protein 3", "isoform", "3 isoform", "isoform b", "protein 3 isoform", "3 isoform b", "homeobox protein 3 isoform", "protein 3 isoform b", "finger homeobox protein 3 isoform", "homeobox protein 3 isoform b" ] }, { "record_id": "MONDO:0980989", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:0980989", "0980989" ] }, { "record_id": "MONDO:0980989", "record_type": "disease", "section": "disease_name", "phraselist": [ "dystonia", "38", "susceptibility", "to", "dystonia 38", "susceptibility to", "38 susceptibility", "dystonia 38 susceptibility", "38 susceptibility to", "dystonia 38 susceptibility to" ] }, { "record_id": "MONDO:0980989", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:0980989", "record_type": "disease", "section": "proteins", "phraselist": [ "p06576", "p06576 1", "atpb_human", "np_001677", "glycoprotein", "atp5f1b", "atp5b", "atpmb", "atpsb", "dyt38", "hel", "271", "hel s", "s 271", "hel s 271", "humop2" ] }, { "record_id": "MONDO:0980989", "record_type": "disease", "section": "proteins", "phraselist": [ "atp", "synthase", "complex", "subunit", "beta", "mitochondrial", "atp synthase", "synthase f", "f 1", "complex subunit", "subunit beta", "atp synthase f", "synthase f 1", "1 complex", "complex subunit beta", "beta mitochondrial", "atp synthase f 1", "f 1 complex", "1 complex subunit", "subunit beta mitochondrial", "synthase f 1 complex", "f 1 complex subunit", "1 complex subunit beta", "complex subunit beta mitochondrial", "7.1.2.2", "precursor", "mitochondrial precursor", "beta mitochondrial precursor", "subunit beta mitochondrial precursor", "f1", "synthase f1", "f1 subunit", "atp synthase f1", "synthase f1 subunit", "f1 subunit beta", "atp synthase f1 subunit", "synthase f1 subunit beta", "atp synthase f1 subunit beta", "synthase subunit", "atp synthase subunit", "synthase subunit beta", "atp synthase subunit beta", "synthase subunit beta mitochondrial", "h+", "transporting", "polypeptide", "h+ transporting", "mitochondrial f1", "f1 complex", "beta polypeptide", "synthase h+", "transporting mitochondrial", "mitochondrial f1 complex", "complex beta", "atp synthase h+", "synthase h+ transporting", "h+ transporting mitochondrial", "transporting mitochondrial f1", "f1 complex beta", "complex beta polypeptide", "atp synthase h+ transporting", "h+ transporting mitochondrial f1", "transporting mitochondrial f1 complex", "mitochondrial f1 complex beta", "f1 complex beta polypeptide", "epididymis", "secretory", "protein", "li", "271", "epididymis secretory", "secretory protein", "protein li", "li 271", "epididymis secretory protein", "secretory protein li", "protein li 271", "epididymis secretory protein li", "secretory protein li 271", "epididymis secretory protein li 271", "mitochondrial atp", "synthase beta", "beta subunit", "mitochondrial atp synthase", "atp synthase beta", "synthase beta subunit", "mitochondrial atp synthase beta", "atp synthase beta subunit", "mitochondrial atp synthase beta subunit", "synthetase", "atp synthetase", "mitochondrial atp synthetase", "synthetase beta", "atp synthetase beta", "synthetase beta subunit", "mitochondrial atp synthetase beta", "atp synthetase beta subunit" ] } ]