[ { "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" ] }, { "record_id": "MONDO:1010200", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:1010200", "1010200", "mim:617234", "617234" ] }, { "record_id": "MONDO:1010200", "record_type": "disease", "section": "disease_name", "phraselist": [ "oocyte/zygote/embryo", "maturation", "arrest", "16", "oocyte/zygote/embryo maturation", "maturation arrest", "arrest 16", "oocyte/zygote/embryo maturation arrest", "maturation arrest 16", "oocyte/zygote/embryo maturation arrest 16", "padi6", "preimplantation", "embryonic", "lethality", "padi6 preimplantation", "preimplantation embryonic", "embryonic lethality", "padi6 preimplantation embryonic", "preimplantation embryonic lethality", "padi6 preimplantation embryonic lethality", "related", "and", "maternal", "effect", "disorder", "padi6 related", "related oocyte/zygote/embryo", "16 and", "and maternal", "maternal effect", "effect disorder", "padi6 related oocyte/zygote/embryo", "related oocyte/zygote/embryo maturation", "arrest 16 and", "16 and maternal", "and maternal effect", "maternal effect disorder", "padi6 related oocyte/zygote/embryo maturation", "related oocyte/zygote/embryo maturation arrest", "maturation arrest 16 and", "arrest 16 and maternal", "16 and maternal effect", "and maternal effect disorder", "padi6 related oocyte/zygote/embryo maturation arrest", "related oocyte/zygote/embryo maturation arrest 16", "oocyte/zygote/embryo maturation arrest 16 and", "maturation arrest 16 and maternal", "arrest 16 and maternal effect", "16 and maternal effect disorder", "prembl2", "type", "lethality type", "type 2", "embryonic lethality type", "lethality type 2", "preimplantation embryonic lethality type", "embryonic lethality type 2", "preimplantation embryonic lethality type 2" ] }, { "record_id": "MONDO:1010200", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:1010200", "record_type": "disease", "section": "proteins", "phraselist": [ "q6tgc4", "q6tgc4 1", "padi6_human", "np_997304", "glycoprotein", "padi6", "ozema16", "pad6", "prembl2", "hpadvi" ] }, { "record_id": "MONDO:1010200", "record_type": "disease", "section": "proteins", "phraselist": [ "inactive", "protein", "arginine", "deiminase", "type", "inactive protein", "protein arginine", "arginine deiminase", "deiminase type", "type 6", "inactive protein arginine", "protein arginine deiminase", "arginine deiminase type", "deiminase type 6", "inactive protein arginine deiminase", "protein arginine deiminase type", "arginine deiminase type 6", "inactive protein arginine deiminase type", "protein arginine deiminase type 6", "peptidyl", "like", "peptidyl arginine", "deiminase like", "like protein", "peptidyl arginine deiminase", "arginine deiminase like", "deiminase like protein", "peptidyl arginine deiminase like", "arginine deiminase like protein", "peptidyl arginine deiminase like protein", "peptidylarginine", "vi", "peptidylarginine deiminase", "deiminase vi", "peptidylarginine deiminase vi", "type vi", "deiminase type vi", "arginine deiminase type vi", "protein arginine deiminase type vi", "hpadvi", "peptidyl arginine deiminase type", "peptidylarginine deiminase type", "peptidylarginine deiminase type 6" ] }, { "record_id": "MONDO:1040014", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:1040014", "1040014", "mim:621122", "621122" ] }, { "record_id": "MONDO:1040014", "record_type": "disease", "section": "disease_name", "phraselist": [ "ppfia3", "related", "neurodevelopmental", "disorder", "ppfia3 related", "related neurodevelopmental", "neurodevelopmental disorder", "ppfia3 related neurodevelopmental", "related neurodevelopmental disorder", "ppfia3 related neurodevelopmental disorder", "paul", "chao", "syndrome", "paul chao", "chao neurodevelopmental", "neurodevelopmental syndrome", "paul chao neurodevelopmental", "chao neurodevelopmental syndrome", "paul chao neurodevelopmental syndrome" ] }, { "record_id": "MONDO:1040014", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:1040014", "record_type": "disease", "section": "proteins", "phraselist": [ "o75145", "o75145 1", "lipa3_human", "np_003651", "glycoprotein", "ppfia3", "kiaa0654", "lpna3", "nedpach" ] }, { "record_id": "MONDO:1040014", "record_type": "disease", "section": "proteins", "phraselist": [ "liprin", "alpha", "liprin alpha", "alpha 3", "liprin alpha 3", "ptprf", "interacting", "protein", "ptprf interacting", "interacting protein", "protein alpha", "ptprf interacting protein", "interacting protein alpha", "protein alpha 3", "ptprf interacting protein alpha", "interacting protein alpha 3", "ptprf interacting protein alpha 3", "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 alpha", "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 alpha", "polypeptide interacting protein alpha 3", "polypeptide ptprf", "protein liprin", "f polypeptide ptprf", "interacting protein liprin", "polypeptide alpha", "f polypeptide alpha", "polypeptide alpha 3", "f polypeptide alpha 3" ] }, { "record_id": "MONDO:1060185", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:1060185", "1060185" ] }, { "record_id": "MONDO:1060185", "record_type": "disease", "section": "disease_name", "phraselist": [ "systemic", "lupus", "erythematosus", "18", "systemic lupus", "lupus erythematosus", "erythematosus 18", "systemic lupus erythematosus", "lupus erythematosus 18", "systemic lupus erythematosus 18", "sleb18", "related", "to", "pld4", "erythematosus related", "related to", "to pld4", "lupus erythematosus related", "erythematosus related to", "related to pld4", "systemic lupus erythematosus related", "lupus erythematosus related to", "erythematosus related to pld4", "systemic lupus erythematosus related to", "lupus erythematosus related to pld4" ] }, { "record_id": "MONDO:1060185", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:1060185", "record_type": "disease", "section": "proteins", "phraselist": [ "q96bz4", "q96bz4 1", "pld4_human", "np_620145", "glycoprotein", "pld4", "c14orf175", "pro5775", "sleb18" ] }, { "record_id": "MONDO:1060185", "record_type": "disease", "section": "proteins", "phraselist": [ "5'", "3'", "exonuclease", "pld4", "5' 3'", "3' exonuclease", "exonuclease pld4", "5' 3' exonuclease", "3' exonuclease pld4", "5' 3' exonuclease pld4", "bis", "monoacylglycero", "phosphate", "synthase", "s s", "bis monoacylglycero", "monoacylglycero phosphate", "phosphate synthase", "synthase pld4", "s bis", "bis monoacylglycero phosphate", "monoacylglycero phosphate synthase", "phosphate synthase pld4", "s s bis", "s bis monoacylglycero", "bis monoacylglycero phosphate synthase", "monoacylglycero phosphate synthase pld4", "s s bis monoacylglycero", "s bis monoacylglycero phosphate", "bis monoacylglycero phosphate synthase pld4", "2.3.1.", "3.1.16.1", "isoform", "pld4 isoform", "isoform 2", "exonuclease pld4 isoform", "pld4 isoform 2", "3' exonuclease pld4 isoform", "exonuclease pld4 isoform 2", "5' 3' exonuclease pld4 isoform", "3' exonuclease pld4 isoform 2", "pld", "pld 4", "phospholipase", "family", "member", "phospholipase d", "d family", "family member", "member 4", "phospholipase d family", "d family member", "family member 4", "phospholipase d family member", "d family member 4", "phospholipase d family member 4", "d4", "phospholipase d4", "choline", "phosphatase", "choline phosphatase", "phosphatase 4", "choline phosphatase 4", "phosphatidylcholine", "hydrolyzing", "phosphatidylcholine hydrolyzing", "hydrolyzing phospholipase", "phosphatidylcholine hydrolyzing phospholipase", "hydrolyzing phospholipase d4", "phosphatidylcholine hydrolyzing phospholipase d4" ] }, { "record_id": "MONDO:8000012", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:8000012", "8000012", "mim:616263", "616263" ] }, { "record_id": "MONDO:8000012", "record_type": "disease", "section": "disease_name", "phraselist": [ "neurologic", "endocrine", "and", "pancreatic", "disease", "multisystem", "infantile", "onset", "and pancreatic", "pancreatic disease", "infantile onset", "onset 1", "neurologic endocrine", "endocrine and", "and pancreatic disease", "disease multisystem", "multisystem infantile", "infantile onset 1", "endocrine and pancreatic", "pancreatic disease multisystem", "multisystem infantile onset", "neurologic endocrine and", "endocrine and pancreatic disease", "and pancreatic disease multisystem", "disease multisystem infantile", "multisystem infantile onset 1", "imnepd", "onset multisystem", "multisystem neurologic", "infantile onset multisystem", "onset multisystem neurologic", "infantile onset multisystem neurologic", "multisystem neurologic endocrine", "onset multisystem neurologic endocrine" ] }, { "record_id": "MONDO:8000012", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:8000012", "record_type": "disease", "section": "proteins", "phraselist": [ "q9y3e5", "q9y3e5 1", "pth2_human", "np_001015509", "glycoprotein", "ptrh2", "bit1", "cfap37", "cgi", "147", "cgi 147", "imnepd", "pth", "pth 2", "pth2" ] }, { "record_id": "MONDO:8000012", "record_type": "disease", "section": "proteins", "phraselist": [ "peptidyl", "trna", "hydrolase", "mitochondrial", "peptidyl trna", "trna hydrolase", "hydrolase 2", "peptidyl trna hydrolase", "trna hydrolase 2", "2 mitochondrial", "peptidyl trna hydrolase 2", "hydrolase 2 mitochondrial", "trna hydrolase 2 mitochondrial", "3.1.1.29", "bcl", "inhibitor", "of", "transcription", "bcl 2", "2 inhibitor", "inhibitor of", "of transcription", "transcription 1", "bcl 2 inhibitor", "2 inhibitor of", "inhibitor of transcription", "of transcription 1", "bcl 2 inhibitor of", "2 inhibitor of transcription", "inhibitor of transcription 1", "bcl 2 inhibitor of transcription", "2 inhibitor of transcription 1", "pth", "pth 2", "cilia", "and", "flagella", "associated", "protein", "37", "cilia and", "and flagella", "flagella associated", "associated protein", "protein 37", "cilia and flagella", "and flagella associated", "flagella associated protein", "associated protein 37", "cilia and flagella associated", "and flagella associated protein", "flagella associated protein 37", "cilia and flagella associated protein", "and flagella associated protein 37", "isoform", "mitochondrial isoform", "isoform a", "mitochondrial isoform a", "2 mitochondrial isoform", "hydrolase 2 mitochondrial isoform", "2 mitochondrial isoform a" ] }, { "record_id": "MONDO:8000013", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:8000013", "8000013", "mim:617068", "617068" ] }, { "record_id": "MONDO:8000013", "record_type": "disease", "section": "disease_name", "phraselist": [ "portal", "hypertension", "noncirrhotic", "portal hypertension", "hypertension noncirrhotic", "noncirrhotic 1", "portal hypertension noncirrhotic", "hypertension noncirrhotic 1", "ncph", "noncirrhotic ncph", "hypertension noncirrhotic ncph", "non", "cirrhotic", "non cirrhotic", "hypertension non", "cirrhotic 1", "portal hypertension non", "hypertension non cirrhotic", "non cirrhotic 1", "portal hypertension non cirrhotic" ] }, { "record_id": "MONDO:8000013", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:8000013", "record_type": "disease", "section": "proteins", "phraselist": [ "q16854", "q16854 1", "dguok_human", "np_001305788", "glycoprotein", "dguok", "dgk", "mtdps3", "ncph1", "ncph", "peob4" ] }, { "record_id": "MONDO:8000013", "record_type": "disease", "section": "proteins", "phraselist": [ "deoxyguanosine", "kinase", "mitochondrial", "deoxyguanosine kinase", "kinase mitochondrial", "deoxyguanosine kinase mitochondrial", "2.7.1.113", "2.7.1.76", "deoxyadenosine", "deoxyadenosine kinase", "deoxyadenosine kinase mitochondrial", "isoform", "precursor", "mitochondrial isoform", "isoform c", "c precursor", "mitochondrial isoform c", "isoform c precursor", "kinase mitochondrial isoform", "mitochondrial isoform c precursor", "deoxyguanosine kinase mitochondrial isoform", "kinase mitochondrial isoform c" ] }, { "record_id": "MONDO:8000015", "record_type": "disease", "section": "disease_id", "phraselist": [ "mondo:8000015", "8000015", "mim:273250", "273250" ] }, { "record_id": "MONDO:8000015", "record_type": "disease", "section": "disease_name", "phraselist": [ "46", "xy", "sex", "reversal", "11", "46 xy", "xy sex", "sex reversal", "reversal 11", "46 xy sex", "xy sex reversal", "sex reversal 11", "46 xy sex reversal", "xy sex reversal 11", "46 xy sex reversal 11", "etrs", "srxy11", "trs", "embryonic", "testicular", "regression", "syndrome", "embryonic testicular", "testicular regression", "regression syndrome", "embryonic testicular regression", "testicular regression syndrome", "embryonic testicular regression syndrome", "vanishing", "testes", "vanishing testes", "testes syndrome", "vanishing testes syndrome", "testis", "vanishing testis", "testis syndrome", "vanishing testis syndrome" ] }, { "record_id": "MONDO:8000015", "record_type": "disease", "section": "species", "phraselist": [ "9606", "homo", "sapiens", "homo sapiens", "human", "sapiens 9606", "homo sapiens 9606" ] }, { "record_id": "MONDO:8000015", "record_type": "disease", "section": "proteins", "phraselist": [ "q8iy37", "q8iy37 1", "dhx37_human", "np_116045", "glycoprotein", "dhx37", "ddx37", "dhr1", "kiaa1517", "nedbavc", "srxy11" ] }, { "record_id": "MONDO:8000015", "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" ] } ]