[ { "record_id": "doid.0070464", "disease_id": "DOID:0070464", "recommended_name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 7", "synonyms": [ { "id": "DOID:0070464", "name": "MC5DN7" }, { "id": "MONDO:0957255", "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 7" }, { "id": "MIM:620359", "name": "Mitochondrial complex V deficiency, nuclear type 7" } ], "record_url": "http://disease-ontology.org/term/DOID:0070464", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0070465", "disease_id": "DOID:0070465", "recommended_name": "autosomal recessive spinocerebellar ataxia with axonal neuropathy 3", "synonyms": [ { "id": "DOID:0070465", "name": "spinocerebellar ataxia with axonal neuropathy 3" }, { "id": "DOID:0070465", "name": "SCAN3" }, { "id": "DOID:0070465", "name": "spinocerebellar ataxia with axonal neuropathy type 3" }, { "id": "MONDO:0020770", "name": "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3" }, { "id": "MONDO:0020770", "name": "SCAN3" }, { "id": "MIM:618387", "name": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0070465", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070466", "disease_id": "DOID:0070466", "recommended_name": "carpal tunnel syndrome 1", "synonyms": [ { "id": "DOID:0070466", "name": "CTS1" }, { "id": "MONDO:0020730", "name": "carpal tunnel syndrome 1" }, { "id": "MONDO:0020730", "name": "carpal tunnel syndrome" }, { "id": "MONDO:0020730", "name": "CTS1" }, { "id": "MONDO:0020730", "name": "amyotrophy, thenar, of carpal origin" }, { "id": "MONDO:0020730", "name": "carpal tunnel syndrome, familial" }, { "id": "MONDO:0020730", "name": "CTS" }, { "id": "MIM:115430", "name": "Carpal tunnel syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070466", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070467", "disease_id": "DOID:0070467", "recommended_name": "carpal tunnel syndrome 2", "synonyms": [ { "id": "DOID:0070467", "name": "CTS2" }, { "id": "MONDO:0030883", "name": "carpal tunnel syndrome 2" }, { "id": "MONDO:0030883", "name": "CTS2" }, { "id": "MONDO:0030883", "name": "carpal tunnel syndrome 2" }, { "id": "MIM:619161", "name": "Carpal tunnel syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0070467", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070468", "disease_id": "DOID:0070468", "recommended_name": "Yoon-Bellen neurodevelopmental syndrome", "synonyms": [ { "id": "DOID:0070468", "name": "YOBELN" }, { "id": "MONDO:0859221", "name": "Yoon-Bellen neurodevelopmental syndrome" }, { "id": "MIM:619701", "name": "Yoon-Bellen neurodevelopmental syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070468", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070469", "disease_id": "DOID:0070469", "recommended_name": "neurodevelopmental disorder with dysmorphic facies and thin corpus callosum", "synonyms": [ { "id": "DOID:0070469", "name": "NEDDFAC" }, { "id": "MONDO:0859179", "name": "neurodevelopmental disorder with dysmorphic facies and thin corpus callosum" }, { "id": "MIM:619480", "name": "Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum" } ], "record_url": "http://disease-ontology.org/term/DOID:0070469", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0070471", "disease_id": "DOID:0070471", "recommended_name": "early-onset epilepsy 2", "synonyms": [ { "id": "DOID:0070471", "name": "EPEO2" }, { "id": "DOID:0070471", "name": "early-onset epilepsy-2 with or without developmental delay" }, { "id": "MONDO:0030005", "name": "epilepsy, early-onset, with or without developmental delay" }, { "id": "MONDO:0030005", "name": "EPEDD" }, { "id": "MONDO:0030005", "name": "EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY" }, { "id": "MONDO:0030005", "name": "epilepsy, early-onset, with or without developmental delay" }, { "id": "MIM:618832", "name": "Epilepsy, early-onset, 2, with or without developmental delay" } ], "record_url": "http://disease-ontology.org/term/DOID:0070471", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070472", "disease_id": "DOID:0070472", "recommended_name": "early-onset epilepsy 3", "synonyms": [ { "id": "DOID:0070472", "name": "EPEO3" }, { "id": "DOID:0070472", "name": "early-onset epilepsy 3 with or without developmental delay" }, { "id": "MONDO:0958196", "name": "epilepsy, early-onset, 3, with or without developmental delay" }, { "id": "MIM:620465", "name": "Epilepsy, early-onset, 3, with or without developmental delay" } ], "record_url": "http://disease-ontology.org/term/DOID:0070472", "snv_count": 0, "protein_count": 11, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.2, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070473", "disease_id": "DOID:0070473", "recommended_name": "Zaki syndrome", "synonyms": [ { "id": "MONDO:0859209", "name": "Zaki syndrome" }, { "id": "MIM:619648", "name": "Zaki syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070473", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070474", "disease_id": "DOID:0070474", "recommended_name": "childhood-onset neurodegeneration with brain atrophy", "synonyms": [ { "id": "DOID:0070474", "name": "CONDBA" }, { "id": "DOID:0070474", "name": "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" }, { "id": "MONDO:0044701", "name": "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" }, { "id": "MONDO:0044701", "name": "UBTF-related disorder" }, { "id": "MONDO:0044701", "name": "CONDBA" }, { "id": "MIM:617672", "name": "Neurodegeneration, childhood-onset, with brain atrophy" } ], "record_url": "http://disease-ontology.org/term/DOID:0070474", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0070476", "disease_id": "DOID:0070476", "recommended_name": "diphthamide deficiency syndrome", "synonyms": [ { "id": "DOID:0070476", "name": "craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome" }, { "id": "DOID:0070476", "name": "DEDSSH" }, { "id": "DOID:0070476", "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair" }, { "id": "MONDO:0800438", "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair 1" }, { "id": "MONDO:0800438", "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair" }, { "id": "MONDO:0800438", "name": "developmental delay-short stature-dysmorphic features-sparse hair syndrome" }, { "id": "MONDO:0800438", "name": "DEDSSH1" }, { "id": "MONDO:0800438", "name": "developmental delay with short stature, dysmorphic features, and sparse hair 1" }, { "id": "MONDO:0800438", "name": "diphtamide deficiency syndrome" }, { "id": "MIM:616901", "name": "Developmental delay with short stature, dysmorphic facial features, and sparse hair 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070476", "snv_count": 0, "protein_count": 15, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070477", "disease_id": "DOID:0070477", "recommended_name": "diphthamide deficiency syndrome 1", "synonyms": [ { "id": "DOID:0070477", "name": "DEDSSH1" }, { "id": "DOID:0070477", "name": "DPH1 syndrome" }, { "id": "DOID:0070477", "name": "Loucks-Innes syndrome" }, { "id": "DOID:0070477", "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair 1" }, { "id": "MONDO:0800438", "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair 1" }, { "id": "MONDO:0800438", "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair" }, { "id": "MONDO:0800438", "name": "developmental delay-short stature-dysmorphic features-sparse hair syndrome" }, { "id": "MONDO:0800438", "name": "DEDSSH1" }, { "id": "MONDO:0800438", "name": "developmental delay with short stature, dysmorphic features, and sparse hair 1" }, { "id": "MONDO:0800438", "name": "diphtamide deficiency syndrome" }, { "id": "MIM:616901", "name": "Developmental delay with short stature, dysmorphic facial features, and sparse hair 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070477", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070478", "disease_id": "DOID:0070478", "recommended_name": "diphthamide deficiency syndrome 2", "synonyms": [ { "id": "DOID:0070478", "name": "DEDSSH2" }, { "id": "DOID:0070478", "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair 2" }, { "id": "MONDO:0100217", "name": "developmental delay with short stature, dysmorphic facial features, and sparse hair 2" }, { "id": "MONDO:0100217", "name": "DEDSSH2" }, { "id": "MONDO:0100217", "name": "diphthamide deficiency syndrome 2" }, { "id": "MIM:620062", "name": "Developmental delay with short stature, dysmorphic facial features, and sparse hair 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0070478", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070479", "disease_id": "DOID:0070479", "recommended_name": "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties", "synonyms": [ { "id": "DOID:0070479", "name": "NEDSFF" }, { "id": "MONDO:0859295", "name": "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties" }, { "id": "MONDO:0859295", "name": "DPH5-related diphthamide-deficiency syndrome" }, { "id": "MIM:620070", "name": "Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties" } ], "record_url": "http://disease-ontology.org/term/DOID:0070479", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070480", "disease_id": "DOID:0070480", "recommended_name": "schwannomatosis 1", "synonyms": [ { "id": "DOID:0070480", "name": "SMARCB1-related schwannomatosis" }, { "id": "DOID:0070480", "name": "SWN1" }, { "id": "MONDO:0024517", "name": "SMARCB1-related schwannomatosis" }, { "id": "MONDO:0024517", "name": "SWNTS1" }, { "id": "MONDO:0024517", "name": "schwannomatosis 1" }, { "id": "MONDO:0024517", "name": "schwannomatosis, somatic" }, { "id": "MIM:162091", "name": "Schwannomatosis 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070480", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070481", "disease_id": "DOID:0070481", "recommended_name": "schwannomatosis 2", "synonyms": [ { "id": "DOID:0070481", "name": "LZTR1-related schwannomatosis" }, { "id": "DOID:0070481", "name": "SWN2" }, { "id": "MONDO:0014299", "name": "LZTR1-related schwannomatosis" }, { "id": "MONDO:0014299", "name": "Schwannomatosis type 2" }, { "id": "MONDO:0014299", "name": "schwannomatosis 2" }, { "id": "MONDO:0014299", "name": "SWNTS2" }, { "id": "MIM:615670", "name": "Schwannomatosis 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0070481", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070482", "disease_id": "DOID:0070482", "recommended_name": "spinal neurofibromatosis", "synonyms": [ { "id": "DOID:0070482", "name": "familial spinal neurofibromatosis" }, { "id": "DOID:0070482", "name": "FNSF" }, { "id": "DOID:0070482", "name": "SNF" }, { "id": "MONDO:0008078", "name": "neurofibromatosis, familial spinal" }, { "id": "MONDO:0008078", "name": "neurofibromatosis, familial spinal" }, { "id": "MIM:162210", "name": "Familial spinal neurofibromatosis" } ], "record_url": "http://disease-ontology.org/term/DOID:0070482", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070483", "disease_id": "DOID:0070483", "recommended_name": "Watson syndrome", "synonyms": [ { "id": "MONDO:0008672", "name": "Watson syndrome" }, { "id": "MONDO:0008672", "name": "Watson syndrome" }, { "id": "MONDO:0008672", "name": "WTSN" }, { "id": "MIM:193520", "name": "Watson syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070483", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070484", "disease_id": "DOID:0070484", "recommended_name": "Legius syndrome", "synonyms": [ { "id": "DOID:0070484", "name": "LGSS" }, { "id": "DOID:0070484", "name": "NF1-like syndrome" }, { "id": "DOID:0070484", "name": "neurofibromatosis type 1-like syndrome" }, { "id": "MONDO:0012669", "name": "Legius syndrome" }, { "id": "MONDO:0012669", "name": "Legius syndrome" }, { "id": "MONDO:0012669", "name": "NF1-like syndrome" }, { "id": "MONDO:0012669", "name": "neurofibromatosis 1-like syndrome" }, { "id": "MONDO:0012669", "name": "neurofibromatosis type 1 like syndrome" }, { "id": "MIM:611431", "name": "Legius syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070484", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000100001100000" }, { "record_id": "doid.0070485", "disease_id": "DOID:0070485", "recommended_name": "mitochondrial complex IV deficiency nuclear type 23", "synonyms": [ { "id": "DOID:0070485", "name": "MC4DN23" }, { "id": "MONDO:0859520", "name": "mitochondrial complex IV deficiency, nuclear type 23" }, { "id": "MIM:620275", "name": "Mitochondrial complex IV deficiency, nuclear type 23" } ], "record_url": "http://disease-ontology.org/term/DOID:0070485", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0070486", "disease_id": "DOID:0070486", "recommended_name": "Parkinson's disease 25", "synonyms": [ { "id": "DOID:0070486", "name": "autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development" }, { "id": "DOID:0070486", "name": "PARK25" }, { "id": "MONDO:0957576", "name": "Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development" }, { "id": "MIM:620482", "name": "Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development" } ], "record_url": "http://disease-ontology.org/term/DOID:0070486", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070489", "disease_id": "DOID:0070489", "recommended_name": "classic dopamine transporter deficiency syndrome", "synonyms": [ { "id": "DOID:0070489", "name": "PKDYS1" }, { "id": "DOID:0070489", "name": "classic DTDS" }, { "id": "DOID:0070489", "name": "infantile parkinsonism-dystonia 1" }, { "id": "MONDO:0054835", "name": "classic dopamine transporter deficiency syndrome" }, { "id": "MONDO:0054835", "name": "PKDYS" }, { "id": "MONDO:0054835", "name": "PKDYS1" }, { "id": "MONDO:0054835", "name": "Parkinsonism-dystonia, infantile, 1" }, { "id": "MONDO:0054835", "name": "classic DTDS" }, { "id": "MIM:613135", "name": "Parkinsonism-dystonia 1, infantile-onset" } ], "record_url": "http://disease-ontology.org/term/DOID:0070489", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070490", "disease_id": "DOID:0070490", "recommended_name": "infantile parkinsonism-dystonia 2", "synonyms": [ { "id": "DOID:0070490", "name": "PKDYS2" }, { "id": "DOID:0070490", "name": "Brain dopamine-serotonin vesicular transport disease" }, { "id": "MONDO:0018130", "name": "brain dopamine-serotonin vesicular transport disease" }, { "id": "MONDO:0018130", "name": "PKDYS2" }, { "id": "MONDO:0018130", "name": "parkinsonism-dystonia, infantile, 2" }, { "id": "MIM:618049", "name": "Parkinsonism-dystonia 2, infantile-onset" } ], "record_url": "http://disease-ontology.org/term/DOID:0070490", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070491", "disease_id": "DOID:0070491", "recommended_name": "mitochondrial complex IV deficiency nuclear type 1", "synonyms": [ { "id": "DOID:0070491", "name": "MC4DN1" }, { "id": "MONDO:0700250", "name": "mitochondrial complex IV deficiency, nuclear type 1" }, { "id": "MIM:220110", "name": "Mitochondrial complex IV deficiency" } ], "record_url": "http://disease-ontology.org/term/DOID:0070491", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0070492", "disease_id": "DOID:0070492", "recommended_name": "mitochondrial complex IV deficiency nuclear type 3", "synonyms": [ { "id": "DOID:0070492", "name": "MC4DN3" }, { "id": "MONDO:0033635", "name": "mitochondrial complex IV deficiency, nuclear type 3" }, { "id": "MONDO:0033635", "name": "MC4DN3" }, { "id": "MONDO:0033635", "name": "mitochondrial complex IV deficiency, nuclear type 3" }, { "id": "MIM:619046", "name": "Mitochondrial complex IV deficiency, nuclear type 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0070492", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070493", "disease_id": "DOID:0070493", "recommended_name": "mitochondrial complex IV deficiency nuclear type 4", "synonyms": [ { "id": "DOID:0070493", "name": "MC4DN4" }, { "id": "MONDO:0033636", "name": "mitochondrial complex IV deficiency, nuclear type 4" }, { "id": "MONDO:0033636", "name": "MC4DN4" }, { "id": "MONDO:0033636", "name": "mitochondrial complex IV deficiency, nuclear type 4" }, { "id": "MIM:619048", "name": "Mitochondrial complex IV deficiency, nuclear type 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0070493", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070494", "disease_id": "DOID:0070494", "recommended_name": "mitochondrial complex IV deficiency nuclear type 7", "synonyms": [ { "id": "DOID:0070494", "name": "MC4DN7" }, { "id": "MONDO:0033637", "name": "mitochondrial complex IV deficiency, nuclear type 7" }, { "id": "MONDO:0033637", "name": "MC4DN7" }, { "id": "MONDO:0033637", "name": "mitochondrial complex IV deficiency, nuclear type 7" }, { "id": "MIM:619051", "name": "Mitochondrial complex IV deficiency, nuclear type 7" } ], "record_url": "http://disease-ontology.org/term/DOID:0070494", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0070495", "disease_id": "DOID:0070495", "recommended_name": "mitochondrial complex IV deficiency nuclear type 8", "synonyms": [ { "id": "DOID:0070495", "name": "MC4DN8" }, { "id": "MONDO:0033638", "name": "mitochondrial complex IV deficiency, nuclear type 8" }, { "id": "MONDO:0033638", "name": "MC4DN8" }, { "id": "MONDO:0033638", "name": "mitochondrial complex IV deficiency, nuclear type 8" }, { "id": "MIM:619052", "name": "Mitochondrial complex IV deficiency, nuclear type 8" } ], "record_url": "http://disease-ontology.org/term/DOID:0070495", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070496", "disease_id": "DOID:0070496", "recommended_name": "mitochondrial complex IV deficiency nuclear type 10", "synonyms": [ { "id": "DOID:0070496", "name": "MC4DN10" }, { "id": "MONDO:0033639", "name": "mitochondrial complex IV deficiency, nuclear type 10" }, { "id": "MONDO:0033639", "name": "MC4DN10" }, { "id": "MONDO:0033639", "name": "mitochondrial complex IV deficiency, nuclear type 10" }, { "id": "MIM:619053", "name": "Mitochondrial complex IV deficiency, nuclear type 10" } ], "record_url": "http://disease-ontology.org/term/DOID:0070496", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070497", "disease_id": "DOID:0070497", "recommended_name": "mitochondrial complex IV deficiency nuclear type 11", "synonyms": [ { "id": "DOID:0070497", "name": "MC4DN11" }, { "id": "MONDO:0033645", "name": "mitochondrial complex IV deficiency, nuclear type 11" }, { "id": "MONDO:0033645", "name": "MC4DN11" }, { "id": "MONDO:0033645", "name": "mitochondrial complex IV deficiency, nuclear type 11" }, { "id": "MIM:619054", "name": "Mitochondrial complex IV deficiency, nuclear type 11" } ], "record_url": "http://disease-ontology.org/term/DOID:0070497", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070498", "disease_id": "DOID:0070498", "recommended_name": "mitochondrial complex IV deficiency nuclear type 12", "synonyms": [ { "id": "DOID:0070498", "name": "MC4DN12" }, { "id": "MONDO:0033646", "name": "mitochondrial complex IV deficiency, nuclear type 12" }, { "id": "MONDO:0033646", "name": "MC4DN12" }, { "id": "MONDO:0033646", "name": "mitochondrial complex IV deficiency, nuclear type 12" }, { "id": "MIM:619055", "name": "Mitochondrial complex IV deficiency, nuclear type 12" } ], "record_url": "http://disease-ontology.org/term/DOID:0070498", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070499", "disease_id": "DOID:0070499", "recommended_name": "mitochondrial complex IV deficiency nuclear type 14", "synonyms": [ { "id": "DOID:0070499", "name": "MC4DN14" }, { "id": "MONDO:0033649", "name": "mitochondrial complex IV deficiency, nuclear type 14" }, { "id": "MONDO:0033649", "name": "MC4DN14" }, { "id": "MONDO:0033649", "name": "mitochondrial complex IV deficiency, nuclear type 14" }, { "id": "MIM:619058", "name": "Mitochondrial complex IV deficiency, nuclear type 14" } ], "record_url": "http://disease-ontology.org/term/DOID:0070499", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070500", "disease_id": "DOID:0070500", "recommended_name": "mitochondrial complex IV deficiency nuclear type 15", "synonyms": [ { "id": "DOID:0070500", "name": "MC4DN15" }, { "id": "MONDO:0033650", "name": "mitochondrial complex IV deficiency, nuclear type 15" }, { "id": "MONDO:0033650", "name": "MC4DN15" }, { "id": "MONDO:0033650", "name": "mitochondrial complex IV deficiency, nuclear type 15" }, { "id": "MIM:619059", "name": "Mitochondrial complex IV deficiency, nuclear type 15" } ], "record_url": "http://disease-ontology.org/term/DOID:0070500", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070501", "disease_id": "DOID:0070501", "recommended_name": "mitochondrial complex IV deficiency nuclear type 16", "synonyms": [ { "id": "DOID:0070501", "name": "MC4DN16" }, { "id": "MONDO:0033651", "name": "mitochondrial complex IV deficiency, nuclear type 16" }, { "id": "MONDO:0033651", "name": "MC4DN16" }, { "id": "MONDO:0033651", "name": "mitochondrial complex IV deficiency, nuclear type 16" }, { "id": "MIM:619060", "name": "Mitochondrial complex IV deficiency, nuclear type 16" } ], "record_url": "http://disease-ontology.org/term/DOID:0070501", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101010" }, { "record_id": "doid.0070502", "disease_id": "DOID:0070502", "recommended_name": "mitochondrial complex IV deficiency nuclear type 17", "synonyms": [ { "id": "DOID:0070502", "name": "MC4DN17" }, { "id": "MONDO:0033652", "name": "mitochondrial complex IV deficiency, nuclear type 17" }, { "id": "MONDO:0033652", "name": "MC4DN17" }, { "id": "MONDO:0033652", "name": "mitochondrial complex IV deficiency, nuclear type 17" }, { "id": "MIM:619061", "name": "Mitochondrial complex IV deficiency, nuclear type 17" } ], "record_url": "http://disease-ontology.org/term/DOID:0070502", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070503", "disease_id": "DOID:0070503", "recommended_name": "mitochondrial complex IV deficiency nuclear type 18", "synonyms": [ { "id": "DOID:0070503", "name": "MC4DN18" }, { "id": "MONDO:0033653", "name": "mitochondrial complex IV deficiency, nuclear type 18" }, { "id": "MONDO:0033653", "name": "MC4DN18" }, { "id": "MONDO:0033653", "name": "mitochondrial complex IV deficiency, nuclear type 18" }, { "id": "MIM:619062", "name": "Mitochondrial complex IV deficiency, nuclear type 18" } ], "record_url": "http://disease-ontology.org/term/DOID:0070503", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0070504", "disease_id": "DOID:0070504", "recommended_name": "mitochondrial complex IV deficiency nuclear type 19", "synonyms": [ { "id": "DOID:0070504", "name": "MC4DN19" }, { "id": "MONDO:0033654", "name": "mitochondrial complex IV deficiency, nuclear type 19" }, { "id": "MONDO:0033654", "name": "MC4DN19" }, { "id": "MONDO:0033654", "name": "mitochondrial complex IV deficiency, nuclear type 19" }, { "id": "MIM:619063", "name": "Mitochondrial complex IV deficiency, nuclear type 19" } ], "record_url": "http://disease-ontology.org/term/DOID:0070504", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0070505", "disease_id": "DOID:0070505", "recommended_name": "mitochondrial complex IV deficiency nuclear type 20", "synonyms": [ { "id": "DOID:0070505", "name": "MC4DN20" }, { "id": "MONDO:0033655", "name": "mitochondrial complex IV deficiency, nuclear type 20" }, { "id": "MONDO:0033655", "name": "MC4DN20" }, { "id": "MONDO:0033655", "name": "mitochondrial complex IV deficiency, nuclear type 20" }, { "id": "MIM:619064", "name": "Mitochondrial complex IV deficiency, nuclear type 20" } ], "record_url": "http://disease-ontology.org/term/DOID:0070505", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070506", "disease_id": "DOID:0070506", "recommended_name": "mitochondrial complex IV deficiency nuclear type 21", "synonyms": [ { "id": "DOID:0070506", "name": "MC4DN21" }, { "id": "MONDO:0033656", "name": "mitochondrial complex IV deficiency, nuclear type 21" }, { "id": "MONDO:0033656", "name": "MC4DN21" }, { "id": "MONDO:0033656", "name": "mitochondrial complex IV deficiency, nuclear type 21" }, { "id": "MIM:619065", "name": "Mitochondrial complex IV deficiency, nuclear type 21" } ], "record_url": "http://disease-ontology.org/term/DOID:0070506", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001100001" }, { "record_id": "doid.0070507", "disease_id": "DOID:0070507", "recommended_name": "mitochondrial complex IV deficiency nuclear type 22", "synonyms": [ { "id": "DOID:0070507", "name": "MC4DN22" }, { "id": "MONDO:0859160", "name": "mitochondrial complex IV deficiency, nuclear type 22" }, { "id": "MIM:619355", "name": "Mitochondrial complex IV deficiency, nuclear type 22" } ], "record_url": "http://disease-ontology.org/term/DOID:0070507", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0070508", "disease_id": "DOID:0070508", "recommended_name": "metabolic dysfunction and alcohol associated liver disease", "synonyms": [ { "id": "DOID:0070508", "name": "metabolic dysfunction and alcohol related liver disease" }, { "id": "DOID:0070508", "name": "MetALD" } ], "record_url": "http://disease-ontology.org/term/DOID:0070508", "snv_count": 0, "protein_count": 233, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 23.4, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070509", "disease_id": "DOID:0070509", "recommended_name": "Schinzel Giedion syndrome", "synonyms": [ { "id": "DOID:0070509", "name": "SGS" }, { "id": "DOID:0070509", "name": "Schinzel-Giedion midface retraction syndrome" }, { "id": "MONDO:0010010", "name": "Schinzel-Giedion syndrome" }, { "id": "MONDO:0010010", "name": "SGS" }, { "id": "MONDO:0010010", "name": "Schinzel Giedion Syndrome" }, { "id": "MONDO:0010010", "name": "Schinzel-Giedion midface-retraction syndrome" }, { "id": "MONDO:0010010", "name": "Schinzel-Giedion syndrome" }, { "id": "MONDO:0010010", "name": "Schinzel Giedion midface-retraction syndrome" }, { "id": "MONDO:0010010", "name": "Schinzel Giedion syndrome" }, { "id": "MIM:269150", "name": "Schinzel-Giedion midface retraction syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070509", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070510", "disease_id": "DOID:0070510", "recommended_name": "inflammatory poikiloderma with hair abnormalities and acral keratoses", "synonyms": [ { "id": "DOID:0070510", "name": "IPHAK" }, { "id": "DOID:0070510", "name": "LIPHAK" }, { "id": "DOID:0070510", "name": "LIPHAK syndrome" }, { "id": "MONDO:0859355", "name": "inflammatory poikiloderma with hair abnormalities and acral keratoses" }, { "id": "MIM:620199", "name": "Inflammatory poikiloderma with hair abnormalities and acral keratoses" } ], "record_url": "http://disease-ontology.org/term/DOID:0070510", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070511", "disease_id": "DOID:0070511", "recommended_name": "polyhydramnios, megalencephaly, and symptomatic epilepsy", "synonyms": [ { "id": "DOID:0070511", "name": "PMSE" }, { "id": "DOID:0070511", "name": "PMSE syndrome" }, { "id": "DOID:0070511", "name": "Pretzel syndrome" }, { "id": "MONDO:0012611", "name": "polyhydramnios, megalencephaly, and symptomatic epilepsy" }, { "id": "MONDO:0012611", "name": "PMSE syndrome" }, { "id": "MONDO:0012611", "name": "polyhydramnios, megalencephaly, and symptomatic epilepsy" }, { "id": "MONDO:0012611", "name": "PMSE" }, { "id": "MONDO:0012611", "name": "polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome" }, { "id": "MONDO:0012611", "name": "pretzel syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070511", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070512", "disease_id": "DOID:0070512", "recommended_name": "neurodevelopmental disorder with hypotonia and speech delay", "synonyms": [ { "id": "DOID:0070512", "name": "NEDHSS" }, { "id": "MONDO:0957541", "name": "neurodevelopmental disorder with hypotonia and speech delay, with or without seizures" }, { "id": "MIM:620455", "name": "Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures" } ], "record_url": "http://disease-ontology.org/term/DOID:0070512", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070513", "disease_id": "DOID:0070513", "recommended_name": "neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities", "synonyms": [ { "id": "DOID:0070513", "name": "NEDFBA" }, { "id": "MONDO:0957583", "name": "neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities" }, { "id": "MIM:620489", "name": "Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities" } ], "record_url": "http://disease-ontology.org/term/DOID:0070513", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070514", "disease_id": "DOID:0070514", "recommended_name": "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies", "synonyms": [ { "id": "DOID:0070514", "name": "NEDDFL" }, { "id": "MONDO:0060596", "name": "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" }, { "id": "MONDO:0060596", "name": "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" }, { "id": "MONDO:0060596", "name": "NEDDFL" }, { "id": "MIM:617755", "name": "Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" } ], "record_url": "http://disease-ontology.org/term/DOID:0070514", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070515", "disease_id": "DOID:0070515", "recommended_name": "chromosome 16p11.2 deletion syndrome, 593-kb", "synonyms": [ { "id": "DOID:0070515", "name": "Proximal 16p11.2 microdeletion syndrome" }, { "id": "MONDO:0012756", "name": "proximal 16p11.2 microdeletion syndrome" }, { "id": "MONDO:0012756", "name": "autism susceptibility 14A" }, { "id": "MONDO:0012756", "name": "chromosome 16p11.2 deletion syndrome, 593kb" }, { "id": "MONDO:0012756", "name": "proximal del(16)(p11.2)" }, { "id": "MONDO:0012756", "name": "proximal monosomy 16p11.2" }, { "id": "MONDO:0012756", "name": "16p11.2 deletion syndrome" }, { "id": "MONDO:0012756", "name": "Del(16)(p11.2)" }, { "id": "MONDO:0012756", "name": "chromosome 16p11.2 deletion syndrome" }, { "id": "MONDO:0012756", "name": "microdeletion 16p11.2" }, { "id": "MONDO:0012756", "name": "monosomy 16p11.2" } ], "record_url": "http://disease-ontology.org/term/DOID:0070515", "snv_count": 0, "protein_count": 157, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 15.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070516", "disease_id": "DOID:0070516", "recommended_name": "Mitchell syndrome", "synonyms": [ { "id": "MONDO:0030073", "name": "Mitchell syndrome" }, { "id": "MONDO:0030073", "name": "ACOX1 upregulation" }, { "id": "MONDO:0030073", "name": "MITCH" }, { "id": "MONDO:0030073", "name": "Mitchell syndrome" }, { "id": "MIM:618960", "name": "Mitchell syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070516", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070517", "disease_id": "DOID:0070517", "recommended_name": "retinal macular dystrophy 2", "synonyms": [ { "id": "DOID:0070517", "name": "MCDR2" }, { "id": "MONDO:0011957", "name": "retinal macular dystrophy type 2" }, { "id": "MONDO:0011957", "name": "MCDR2" }, { "id": "MONDO:0011957", "name": "macular dystrophy, retinal, type 2" }, { "id": "MONDO:0011957", "name": "macular dystrophy, retinal, 2" }, { "id": "MIM:608051", "name": "Macular dystrophy, retinal, 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0070517", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070519", "disease_id": "DOID:0070519", "recommended_name": "early-onset vitamin B6-dependent epilepsy 4", "synonyms": [ { "id": "DOID:0070519", "name": "AASA dehydrogenase deficiency" }, { "id": "DOID:0070519", "name": "EPEO4" }, { "id": "DOID:0070519", "name": "PDE-ALDH7A1" }, { "id": "DOID:0070519", "name": "antiquitin deficiency" }, { "id": "MONDO:0020741", "name": "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant" }, { "id": "MONDO:0020741", "name": "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant" }, { "id": "MONDO:0020741", "name": "EPD" }, { "id": "MONDO:0020741", "name": "epilepsy, pyridoxine-dependent" }, { "id": "MIM:266100", "name": "Epilepsy, early-onset, 4, vitamin B6-dependent" } ], "record_url": "http://disease-ontology.org/term/DOID:0070519", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070520", "disease_id": "DOID:0070520", "recommended_name": "peeling skin syndrome 1", "synonyms": [ { "id": "DOID:0070520", "name": "PSS1" }, { "id": "DOID:0070520", "name": "generalized inflammatory peeling skin syndrome" }, { "id": "DOID:0070520", "name": "inflammatory peeling skin syndrome" }, { "id": "DOID:0070520", "name": "peeling skin syndrome type B" }, { "id": "MONDO:0024548", "name": "peeling skin syndrome 1" }, { "id": "MONDO:0024548", "name": "CDSN peeling skin syndrome" }, { "id": "MONDO:0024548", "name": "PSS type B" }, { "id": "MONDO:0024548", "name": "generalised deciduous skin type B" }, { "id": "MONDO:0024548", "name": "generalised peeling skin syndrome type B" }, { "id": "MONDO:0024548", "name": "generalized deciduous skin type B" }, { "id": "MONDO:0024548", "name": "generalized peeling skin syndrome type B" }, { "id": "MONDO:0024548", "name": "inflammatory peeling skin syndrome" }, { "id": "MONDO:0024548", "name": "peeling skin syndrome 1" }, { "id": "MONDO:0024548", "name": "peeling skin syndrome caused by mutation in CDSN" }, { "id": "MONDO:0024548", "name": "peeling skin syndrome type B" }, { "id": "MONDO:0024548", "name": "PSS" }, { "id": "MONDO:0024548", "name": "PSS1" }, { "id": "MONDO:0024548", "name": "skin peeling, familial continuous generalised" }, { "id": "MIM:270300", "name": "Peeling skin syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070520", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070521", "disease_id": "DOID:0070521", "recommended_name": "peeling skin syndrome 2", "synonyms": [ { "id": "DOID:0070521", "name": "PSS2" }, { "id": "MONDO:0012345", "name": "acral peeling skin syndrome" }, { "id": "MONDO:0012345", "name": "acral PSS" }, { "id": "MONDO:0012345", "name": "acral deciduous skin" }, { "id": "MONDO:0012345", "name": "acral peeling skin syndrome" }, { "id": "MONDO:0012345", "name": "localised PSS" }, { "id": "MONDO:0012345", "name": "localised deciduous skin" }, { "id": "MONDO:0012345", "name": "localized PSS" }, { "id": "MONDO:0012345", "name": "localized deciduous skin" }, { "id": "MONDO:0012345", "name": "peeling skin syndrome type 2" }, { "id": "MONDO:0012345", "name": "PSS2" }, { "id": "MONDO:0012345", "name": "peeling skin syndrome 2" }, { "id": "MIM:609796", "name": "Peeling skin syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0070521", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070523", "disease_id": "DOID:0070523", "recommended_name": "peeling skin syndrome 4", "synonyms": [ { "id": "DOID:0070523", "name": "PSS4" }, { "id": "DOID:0070523", "name": "ichthyosis bullosa of Siemens-like" }, { "id": "MONDO:0011937", "name": "peeling skin syndrome 4" }, { "id": "MONDO:0011937", "name": "CSTA peeling skin syndrome" }, { "id": "MONDO:0011937", "name": "peeling skin syndrome 4" }, { "id": "MONDO:0011937", "name": "peeling skin syndrome caused by mutation in CSTA" }, { "id": "MONDO:0011937", "name": "peeling skin syndrome type 4" }, { "id": "MONDO:0011937", "name": "PSS4" }, { "id": "MIM:607936", "name": "Peeling skin syndrome 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0070523", "snv_count": 0, "protein_count": 15, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070524", "disease_id": "DOID:0070524", "recommended_name": "peeling skin syndrome 5", "synonyms": [ { "id": "DOID:0070524", "name": "PSS5" }, { "id": "MONDO:0014923", "name": "peeling skin syndrome 5" }, { "id": "MONDO:0014923", "name": "PSS5" }, { "id": "MONDO:0014923", "name": "SERPINB8 peeling skin syndrome" }, { "id": "MONDO:0014923", "name": "peeling skin syndrome 5" }, { "id": "MONDO:0014923", "name": "peeling skin syndrome 5; PSS5" }, { "id": "MONDO:0014923", "name": "peeling skin syndrome caused by mutation in SERPINB8" }, { "id": "MONDO:0014923", "name": "peeling skin syndrome type 5" }, { "id": "MIM:617115", "name": "Peeling skin syndrome 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0070524", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070525", "disease_id": "DOID:0070525", "recommended_name": "peeling skin syndrome 6", "synonyms": [ { "id": "DOID:0070525", "name": "PSS6" }, { "id": "MONDO:0054852", "name": "peeling skin syndrome 6" }, { "id": "MONDO:0054852", "name": "peeling skin syndrome 6" }, { "id": "MONDO:0054852", "name": "PSS6" }, { "id": "MIM:618084", "name": "Peeling skin syndrome 6" } ], "record_url": "http://disease-ontology.org/term/DOID:0070525", "snv_count": 0, "protein_count": 2, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.3, "record_type": "disease", "filter_code": "0000000.100.000000000001100000" }, { "record_id": "doid.0070526", "disease_id": "DOID:0070526", "recommended_name": "PLACK syndrome", "synonyms": [ { "id": "DOID:0070526", "name": "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" }, { "id": "MONDO:0014574", "name": "peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome" }, { "id": "MONDO:0014574", "name": "plack syndrome" }, { "id": "MONDO:0014574", "name": "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" }, { "id": "MONDO:0014574", "name": "plack" }, { "id": "MIM:616295", "name": "Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" } ], "record_url": "http://disease-ontology.org/term/DOID:0070526", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070529", "disease_id": "DOID:0070529", "recommended_name": "Sifrim-Hitz-Weiss syndrome", "synonyms": [ { "id": "DOID:0070529", "name": "CHD4 Neurodevelopmental Disorder" }, { "id": "DOID:0070529", "name": "CHD4-related neurodevelopmental disorder" }, { "id": "DOID:0070529", "name": "CHD4-related neurodevelopmental syndrome" }, { "id": "DOID:0070529", "name": "SIHIWES" }, { "id": "DOID:0070529", "name": "SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME" }, { "id": "MONDO:0014946", "name": "Sifrim-Hitz-Weiss syndrome" }, { "id": "MONDO:0014946", "name": "CHD4-related neurodevelopmental disorder" }, { "id": "MONDO:0014946", "name": "SIHIWES" }, { "id": "MONDO:0014946", "name": "Sifrim-Hitz-Weiss syndrome" }, { "id": "MONDO:0014946", "name": "Sifrim-Hitz-Weiss syndrome; SIHIWES" }, { "id": "MONDO:0014946", "name": "Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome" }, { "id": "MIM:617159", "name": "Sifrim-Hitz-Weiss syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070529", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070530", "disease_id": "DOID:0070530", "recommended_name": "foveal hypoplasia 1", "synonyms": [ { "id": "DOID:0070530", "name": "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract" }, { "id": "DOID:0070530", "name": "FVH1" }, { "id": "MONDO:0007628", "name": "foveal hypoplasia 1" }, { "id": "MONDO:0007628", "name": "PAX6 foveal hypoplasia" }, { "id": "MONDO:0007628", "name": "foveal hypoplasia 1" }, { "id": "MONDO:0007628", "name": "foveal hypoplasia caused by mutation in PAX6" }, { "id": "MONDO:0007628", "name": "foveal hypoplasia type 1" }, { "id": "MONDO:0007628", "name": "FVH1" }, { "id": "MONDO:0007628", "name": "O Donnell Pappas syndrome" }, { "id": "MONDO:0007628", "name": "foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts" }, { "id": "MONDO:0007628", "name": "foveal hypoplasia, presenile cataract" }, { "id": "MIM:136520", "name": "Foveal hypoplasia 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070530", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070531", "disease_id": "DOID:0070531", "recommended_name": "foveal hypoplasia 2", "synonyms": [ { "id": "DOID:0070531", "name": "FVH2" }, { "id": "DOID:0070531", "name": "foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis" }, { "id": "MONDO:0012216", "name": "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome" }, { "id": "MONDO:0012216", "name": "FHONDA syndrome" }, { "id": "MONDO:0012216", "name": "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome" }, { "id": "MONDO:0012216", "name": "foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis" }, { "id": "MONDO:0012216", "name": "foveal hypoplasia type 2" }, { "id": "MONDO:0012216", "name": "FVH2" }, { "id": "MONDO:0012216", "name": "foveal hypoplasia 2" }, { "id": "MIM:609218", "name": "Foveal hypoplasia 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0070531", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0070532", "disease_id": "DOID:0070532", "recommended_name": "aniridia 1", "synonyms": [ { "id": "MONDO:0024507", "name": "aniridia 1" }, { "id": "MONDO:0024507", "name": "aniridia" }, { "id": "MONDO:0024507", "name": "AN1" }, { "id": "MONDO:0024507", "name": "aniridia 1" }, { "id": "MONDO:0024507", "name": "cataract with late-onset corneal dystrophy" }, { "id": "MIM:106210", "name": "Aniridia 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070532", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070533", "disease_id": "DOID:0070533", "recommended_name": "long QT syndrome 16", "synonyms": [ { "id": "DOID:0070533", "name": "LQT16" }, { "id": "MONDO:0032915", "name": "long QT syndrome 16" }, { "id": "MONDO:0032915", "name": "long QT syndrome 16" }, { "id": "MONDO:0032915", "name": "LQT16" }, { "id": "MIM:618782", "name": "Long QT syndrome 16" } ], "record_url": "http://disease-ontology.org/term/DOID:0070533", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0070536", "disease_id": "DOID:0070536", "recommended_name": "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures", "synonyms": [ { "id": "DOID:0070536", "name": "NEDHLSS" }, { "id": "MONDO:0859286", "name": "neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures" }, { "id": "MIM:620029", "name": "Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures" } ], "record_url": "http://disease-ontology.org/term/DOID:0070536", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070537", "disease_id": "DOID:0070537", "recommended_name": "spastic tetraplegia, thin corpus callosum, and progressive microcephaly", "synonyms": [ { "id": "DOID:0070537", "name": "SPATCCM" }, { "id": "MONDO:0014725", "name": "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" }, { "id": "MONDO:0014725", "name": "ASCT1 deficiency" }, { "id": "MONDO:0014725", "name": "spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" }, { "id": "MONDO:0014725", "name": "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome" }, { "id": "MONDO:0014725", "name": "SPATCCM" }, { "id": "MIM:616657", "name": "Spastic tetraplegia, thin corpus callosum, and progressive microcephaly" } ], "record_url": "http://disease-ontology.org/term/DOID:0070537", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001100001" }, { "record_id": "doid.0070538", "disease_id": "DOID:0070538", "recommended_name": "syndromic X-linked intellectual developmental disorder bain type", "synonyms": [ { "id": "DOID:0070538", "name": "HNRNPH2-RNDD" }, { "id": "DOID:0070538", "name": "HNRNPH2-related neurodevelopmental disorder" }, { "id": "DOID:0070538", "name": "MRXSB" }, { "id": "DOID:0070538", "name": "Mental Retardation, X-linked, Syndrome, Bain Type" }, { "id": "MONDO:0010512", "name": "intellectual disability, X-linked, syndromic, Bain type" }, { "id": "MONDO:0010512", "name": "MRXSB" }, { "id": "MONDO:0010512", "name": "intellectual developmental disorder, X-linked, syndromic, Bain type, X-linked dominant" }, { "id": "MONDO:0010512", "name": "intellectual disability, X-linked, syndromic, Bain type" }, { "id": "MONDO:0010512", "name": "mental retardation, X-linked, syndromic, Bain type" }, { "id": "MIM:300986", "name": "Intellectual developmental disorder, X-linked, syndromic, Bain type" } ], "record_url": "http://disease-ontology.org/term/DOID:0070538", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070539", "disease_id": "DOID:0070539", "recommended_name": "Halperin-Birk syndrome", "synonyms": [ { "id": "DOID:0070539", "name": "HLBKS" }, { "id": "DOID:0070539", "name": "NEDSOSB" }, { "id": "DOID:0070539", "name": "NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES" }, { "id": "MONDO:0032849", "name": "neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies" }, { "id": "MONDO:0032849", "name": "Halperin-Birk syndrome" }, { "id": "MONDO:0032849", "name": "NEDSOSB" }, { "id": "MIM:618651", "name": "Halperin-Birk syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070539", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070540", "disease_id": "DOID:0070540", "recommended_name": "mitochondrial short-chain enoyl-CoA hydratase 1 deficiency", "synonyms": [ { "id": "DOID:0070540", "name": "ECHS1D" }, { "id": "MONDO:0014563", "name": "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency" }, { "id": "MONDO:0014563", "name": "mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency" }, { "id": "MONDO:0014563", "name": "ECHS1D" }, { "id": "MONDO:0014563", "name": "short-chain enoyl-CoA hydratase deficiency" }, { "id": "MIM:616277", "name": "Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency" } ], "record_url": "http://disease-ontology.org/term/DOID:0070540", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070541", "disease_id": "DOID:0070541", "recommended_name": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency", "synonyms": [ { "id": "DOID:0070541", "name": "3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency" }, { "id": "DOID:0070541", "name": "HMG-CoA lyase deficiency" }, { "id": "DOID:0070541", "name": "HMGCL deficiency" }, { "id": "DOID:0070541", "name": "HMGCLD" }, { "id": "DOID:0070541", "name": "hydroxymethylglutaric aciduria" }, { "id": "MONDO:0009520", "name": "3-hydroxy-3-methylglutaric aciduria" }, { "id": "MONDO:0009520", "name": "3-OH 3-Methyl glutaric aciduria" }, { "id": "MONDO:0009520", "name": "3-hydroxy-3-methylglutaric aciduria" }, { "id": "MONDO:0009520", "name": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency" }, { "id": "MONDO:0009520", "name": "HMG-CoA lyase deficiency" }, { "id": "MONDO:0009520", "name": "Hydroxymethylglutaric aciduria" }, { "id": "MONDO:0009520", "name": "deficiency of hydroxymethylglutaryl-CoA lyase" }, { "id": "MONDO:0009520", "name": "hydroxymethylglutaryl-CoA lyase deficiency" }, { "id": "MONDO:0009520", "name": "HMG CoA lyase deficiency" }, { "id": "MONDO:0009520", "name": "HMGCLD" }, { "id": "MONDO:0009520", "name": "defect in leucine metabolism" }, { "id": "MIM:246450", "name": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency" } ], "record_url": "http://disease-ontology.org/term/DOID:0070541", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0070542", "disease_id": "DOID:0070542", "recommended_name": "neurodevelopmental disorder with spastic paraplegia and microcephaly", "synonyms": [ { "id": "DOID:0070542", "name": "GPT2 deficiency" }, { "id": "DOID:0070542", "name": "MRT49" }, { "id": "DOID:0070542", "name": "NEDSPM" }, { "id": "DOID:0070542", "name": "autosomal recessive mental retardation 49" }, { "id": "DOID:0070542", "name": "glutamate pyruvate transaminase 2 deficiency" }, { "id": "MONDO:0014567", "name": "glutamate pyruvate transaminase 2 deficiency" }, { "id": "MONDO:0014567", "name": "GPT2 Deficiency" }, { "id": "MONDO:0014567", "name": "GPT2 deficiency" }, { "id": "MONDO:0014567", "name": "glutamate pyruvate transaminase 2 deficiency" }, { "id": "MONDO:0014567", "name": "mental retardation, autosomal recessive 49" }, { "id": "MONDO:0014567", "name": "mental retardation, autosomal recessive type 49" }, { "id": "MONDO:0014567", "name": "neurodevelopmental disorder with microcephaly and spastic paraplegia" }, { "id": "MONDO:0014567", "name": "postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome" }, { "id": "MIM:616281", "name": "Neurodevelopmental disorder with spastic paraplegia and microcephaly" } ], "record_url": "http://disease-ontology.org/term/DOID:0070542", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001100011" }, { "record_id": "doid.0070543", "disease_id": "DOID:0070543", "recommended_name": "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities", "synonyms": [ { "id": "DOID:0070543", "name": "NEDCASB" }, { "id": "MONDO:0030866", "name": "neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities" }, { "id": "MONDO:0030866", "name": "NEDCASB" }, { "id": "MIM:619121", "name": "Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities" } ], "record_url": "http://disease-ontology.org/term/DOID:0070543", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001100010" }, { "record_id": "doid.0070544", "disease_id": "DOID:0070544", "recommended_name": "congenital glutamine deficiency", "synonyms": [ { "id": "DOID:0070544", "name": "GLND" }, { "id": "DOID:0070544", "name": "congenital systemic glutamine synthase deficiency" }, { "id": "MONDO:0012393", "name": "congenital brain dysgenesis due to glutamine synthetase deficiency" }, { "id": "MONDO:0012393", "name": "congenital brain dysgenesis due to glutamine synthetase deficiency" }, { "id": "MONDO:0012393", "name": "inherited GS deficiency" }, { "id": "MONDO:0012393", "name": "inherited glutamine synthetase deficiency" }, { "id": "MONDO:0012393", "name": "congenital glutamine deficiency" }, { "id": "MONDO:0012393", "name": "glutamine synthetase deficiency, congenital systemic" }, { "id": "MIM:610015", "name": "Glutamine deficiency, congenital" } ], "record_url": "http://disease-ontology.org/term/DOID:0070544", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0070545", "disease_id": "DOID:0070545", "recommended_name": "developmental and epileptic encephalopathy 116", "synonyms": [ { "id": "DOID:0070545", "name": "DEE116" }, { "id": "MONDO:0970945", "name": "developmental and epileptic encephalopathy 116" }, { "id": "MIM:620806", "name": "Developmental and epileptic encephalopathy 116" } ], "record_url": "http://disease-ontology.org/term/DOID:0070545", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0070546", "disease_id": "DOID:0070546", "recommended_name": "primary pigmented nodular adrenocortical disease 1", "synonyms": [ { "id": "DOID:0070546", "name": "PPNAD1" }, { "id": "MONDO:0012509", "name": "pigmented nodular adrenocortical disease, primary, 1" }, { "id": "MONDO:0012509", "name": "PRKAR1A primary pigmented nodular adrenocortical disease" }, { "id": "MONDO:0012509", "name": "pigmented nodular adrenocortical disease, primary, 1" }, { "id": "MONDO:0012509", "name": "pigmented nodular adrenocortical disease, primary, type 1" }, { "id": "MONDO:0012509", "name": "primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A" }, { "id": "MONDO:0012509", "name": "PPNAD1" }, { "id": "MIM:610489", "name": "Primary pigmented nodular adrenocortical disease 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070546", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070547", "disease_id": "DOID:0070547", "recommended_name": "primary pigmented nodular adrenocortical disease 2", "synonyms": [ { "id": "DOID:0070547", "name": "PPNAD2" }, { "id": "MONDO:0012505", "name": "pigmented nodular adrenocortical disease, primary, 2" }, { "id": "MONDO:0012505", "name": "PDE11A primary pigmented nodular adrenocortical disease" }, { "id": "MONDO:0012505", "name": "pigmented nodular adrenocortical disease, primary, 2" }, { "id": "MONDO:0012505", "name": "pigmented nodular adrenocortical disease, primary, type 2" }, { "id": "MONDO:0012505", "name": "primary pigmented nodular adrenocortical disease caused by mutation in PDE11A" }, { "id": "MONDO:0012505", "name": "PPNAD2" }, { "id": "MIM:610475", "name": "Primary pigmented nodular adrenocortical disease 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0070547", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070548", "disease_id": "DOID:0070548", "recommended_name": "primary pigmented nodular adrenocortical disease 3", "synonyms": [ { "id": "DOID:0070548", "name": "PPNAD3" }, { "id": "MONDO:0013616", "name": "pigmented nodular adrenocortical disease, primary, 3" }, { "id": "MONDO:0013616", "name": "PDE8B primary pigmented nodular adrenocortical disease" }, { "id": "MONDO:0013616", "name": "pigmented nodular adrenocortical disease, primary, 3" }, { "id": "MONDO:0013616", "name": "pigmented nodular adrenocortical disease, primary, type 3" }, { "id": "MONDO:0013616", "name": "primary pigmented nodular adrenocortical disease caused by mutation in PDE8B" }, { "id": "MONDO:0013616", "name": "PPNAD3" }, { "id": "MIM:614190", "name": "Primary pigmented nodular adrenocortical disease 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0070548", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070549", "disease_id": "DOID:0070549", "recommended_name": "primary pigmented nodular adrenocortical disease 4", "synonyms": [ { "id": "DOID:0070549", "name": "PPNAD4" }, { "id": "DOID:0070549", "name": "chromosome 19p13 duplication syndrome" }, { "id": "MONDO:0014359", "name": "pigmented nodular adrenocortical disease, primary, 4" }, { "id": "MONDO:0014359", "name": "Cushing syndrome, ACTH-independent adrenal, somatic" }, { "id": "MONDO:0014359", "name": "PRKACA primary pigmented nodular adrenocortical disease" }, { "id": "MONDO:0014359", "name": "pigmented nodular adrenocortical disease, primary, 4" }, { "id": "MONDO:0014359", "name": "pigmented nodular adrenocortical disease, primary, type 4" }, { "id": "MONDO:0014359", "name": "primary pigmented nodular adrenocortical disease caused by mutation in PRKACA" }, { "id": "MONDO:0014359", "name": "PPNAD4" }, { "id": "MIM:615830", "name": "Primary pigmented nodular adrenocortical disease 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0070549", "snv_count": 0, "protein_count": 11, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.2, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070550", "disease_id": "DOID:0070550", "recommended_name": "KRT1-related nonepidermolytic palmoplantar keratoderma", "synonyms": [ { "id": "DOID:0070550", "name": "KRT1-related NEPPK" }, { "id": "MONDO:0010962", "name": "diffuse nonepidermolytic palmoplantar keratoderma" }, { "id": "MONDO:0010962", "name": "KRT1-related diffuse nonepidermolytic keratoderma" }, { "id": "MONDO:0010962", "name": "NEPPK" }, { "id": "MONDO:0010962", "name": "diffuse nonepidermolytic palmoplantar keratoderma" }, { "id": "MONDO:0010962", "name": "diffuse palmoplantar keratoderma, Bothnian type" }, { "id": "MONDO:0010962", "name": "non-epidermolytic palmoplantar keratoderma" }, { "id": "MONDO:0010962", "name": "nonepidermolytic palmoplantar keratoderma" }, { "id": "MONDO:0010962", "name": "palmoplantar keratoderma, nonepidermolytic" }, { "id": "MONDO:0010962", "name": "autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type" }, { "id": "MONDO:0010962", "name": "PPK diffusa circumscripta" }, { "id": "MONDO:0010962", "name": "PPKNE" }, { "id": "MONDO:0010962", "name": "Thost-Unna disease" }, { "id": "MONDO:0010962", "name": "Thost-Unna palmoplantar keratoderma" }, { "id": "MONDO:0010962", "name": "Thost-Unna syndrome" }, { "id": "MONDO:0010962", "name": "Unna-Thost palmoplantar keratoderma" }, { "id": "MONDO:0010962", "name": "Unna-Thost syndrome" }, { "id": "MONDO:0010962", "name": "diffuse NEPPK" }, { "id": "MIM:600962", "name": "Keratoderma, palmoplantar, non-epidermolytic" } ], "record_url": "http://disease-ontology.org/term/DOID:0070550", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070551", "disease_id": "DOID:0070551", "recommended_name": "epidermolytic palmoplantar keratoderma 2", "synonyms": [ { "id": "DOID:0070551", "name": "EPPK2" }, { "id": "MONDO:0957303", "name": "palmoplantar keratoderma, epidermolytic, 2" }, { "id": "MIM:620411", "name": "Palmoplantar keratoderma, epidermolytic, 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0070551", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070552", "disease_id": "DOID:0070552", "recommended_name": "epidermolytic palmoplantar keratoderma 1", "synonyms": [ { "id": "DOID:0070552", "name": "EPPK1" }, { "id": "MONDO:0007758", "name": "epidermolytic palmoplantar keratoderma, 1" }, { "id": "MONDO:0007758", "name": "EPPK" }, { "id": "MONDO:0007758", "name": "diffuse erythrodermic palmoplantar keratoderma, VC6rner type" }, { "id": "MONDO:0007758", "name": "diffuse erythrodermic palmoplantar keratoderma, Voerner type" }, { "id": "MONDO:0007758", "name": "epidermolytic palmoplantar keratoderma of VC6rner" }, { "id": "MONDO:0007758", "name": "epidermolytic palmoplantar keratoderma of Voerner" }, { "id": "MONDO:0007758", "name": "diffuse erythrodermic palmoplantar keratoderma, Vrner type" }, { "id": "MONDO:0007758", "name": "epidermolytic palmoplantar keratoderma of Vrner" }, { "id": "MONDO:0007758", "name": "hyperkeratosis palmoplantar localised epidermolytic" }, { "id": "MONDO:0007758", "name": "hyperkeratosis palmoplantar localized epidermolytic" }, { "id": "MONDO:0007758", "name": "hyperkeratosis, localised epidermolytic" }, { "id": "MONDO:0007758", "name": "palmoplantar keratoderma, epidermolytic" }, { "id": "MIM:144200", "name": "Palmoplantar keratoderma, epidermolytic, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070552", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070554", "disease_id": "DOID:0070554", "recommended_name": "palmoplantar keratoderma and woolly hair", "synonyms": [ { "id": "DOID:0070554", "name": "PPKWH" }, { "id": "DOID:0070554", "name": "keratoderma with woolly hair type IV" }, { "id": "DOID:0070554", "name": "woolly hair-palmoplantar keratoderma syndrome type 4" }, { "id": "MONDO:0014492", "name": "wooly hair-palmoplantar keratoderma syndrome" }, { "id": "MONDO:0014492", "name": "KWWH type IV" }, { "id": "MONDO:0014492", "name": "keratoderma with woolly hair type IV" }, { "id": "MONDO:0014492", "name": "keratoderma with wooly hair type IV" }, { "id": "MONDO:0014492", "name": "woolly hair-palmoplantar hyperkeratosis syndrome" }, { "id": "MONDO:0014492", "name": "wooly hair-palmoplantar hyperkeratosis syndrome" }, { "id": "MONDO:0014492", "name": "PPKWH" }, { "id": "MONDO:0014492", "name": "palmoplantar keratoderma and woolly hair" }, { "id": "MONDO:0014492", "name": "palmoplantar keratoderma and wooly hair" }, { "id": "MIM:616099", "name": "Palmoplantar keratoderma and woolly hair" } ], "record_url": "http://disease-ontology.org/term/DOID:0070554", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070555", "disease_id": "DOID:0070555", "recommended_name": "Nagashima-type palmoplantar keratosis", "synonyms": [ { "id": "DOID:0070555", "name": "NPPK" }, { "id": "DOID:0070555", "name": "PPKN" }, { "id": "DOID:0070555", "name": "palmoplantar keratoderma nagashima type" }, { "id": "MONDO:0014272", "name": "palmoplantar keratoderma, Nagashima type" }, { "id": "MONDO:0014272", "name": "PPK, Nagashima type" }, { "id": "MONDO:0014272", "name": "palmoplantar hyperkeratosis, Nagashima type" }, { "id": "MONDO:0014272", "name": "palmoplantar keratoderma, Nagashima type" }, { "id": "MONDO:0014272", "name": "PPKN" }, { "id": "MIM:615598", "name": "Keratoderma, palmoplantar, Nagashima type" } ], "record_url": "http://disease-ontology.org/term/DOID:0070555", "snv_count": 0, "protein_count": 14, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0070556", "disease_id": "DOID:0070556", "recommended_name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1", "synonyms": [ { "id": "DOID:0070556", "name": "CAMRQ syndrome 1" }, { "id": "DOID:0070556", "name": "CAMRQ1" }, { "id": "DOID:0070556", "name": "DES-VLDLR" }, { "id": "DOID:0070556", "name": "VLDLR cerebellar hypoplasia" }, { "id": "DOID:0070556", "name": "VLDLR-CH" }, { "id": "DOID:0070556", "name": "VLDLR-associated cerebellar hypoplasia" }, { "id": "DOID:0070556", "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1" }, { "id": "DOID:0070556", "name": "cerebellar hypoplasia, VLDLR-associated" }, { "id": "DOID:0070556", "name": "dysequilibrium syndrome-VLDLR" }, { "id": "DOID:0070556", "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1" }, { "id": "DOID:0070556", "name": "cerebellar ataxia, mental retardation, and disequilibrium syndrome 1" }, { "id": "MONDO:0024542", "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1" }, { "id": "MONDO:0024542", "name": "VLDLR dysequilibrium syndrome" }, { "id": "MONDO:0024542", "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1" }, { "id": "MONDO:0024542", "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1" }, { "id": "MONDO:0024542", "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1" }, { "id": "MONDO:0024542", "name": "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1" }, { "id": "MONDO:0024542", "name": "dysequilibrium syndrome caused by mutation in VLDLR" }, { "id": "MONDO:0024542", "name": "CAMRQ1" }, { "id": "MONDO:0024542", "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1" }, { "id": "MONDO:0024542", "name": "cerebellar ataxia, congenital, and mental retardation, autosomal recessive" }, { "id": "MONDO:0024542", "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1" }, { "id": "MIM:224050", "name": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070556", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070557", "disease_id": "DOID:0070557", "recommended_name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2", "synonyms": [ { "id": "DOID:0070557", "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2" }, { "id": "DOID:0070557", "name": "cerebellar ataxia, mental retardation, and disequilibrium syndrome 2" }, { "id": "DOID:0070557", "name": "CAMRQ syndrome 2" }, { "id": "DOID:0070557", "name": "CAMRQ2" }, { "id": "DOID:0070557", "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2" }, { "id": "MONDO:0012430", "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2" }, { "id": "MONDO:0012430", "name": "WDR81 dysequilibrium syndrome" }, { "id": "MONDO:0012430", "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2" }, { "id": "MONDO:0012430", "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2" }, { "id": "MONDO:0012430", "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2" }, { "id": "MONDO:0012430", "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2" }, { "id": "MONDO:0012430", "name": "dysequilibrium syndrome caused by mutation in WDR81" }, { "id": "MONDO:0012430", "name": "CAMRQ2" }, { "id": "MONDO:0012430", "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2" }, { "id": "MIM:610185", "name": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0070557", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070558", "disease_id": "DOID:0070558", "recommended_name": "autosomal recessive spinocerebellar ataxia 34", "synonyms": [ { "id": "DOID:0070558", "name": "cerebellar ataxia, mental retardation, and disequilibrium syndrome 3" }, { "id": "DOID:0070558", "name": "CAMRQ syndrome 3" }, { "id": "DOID:0070558", "name": "CAMRQ3" }, { "id": "DOID:0070558", "name": "SCAR34" }, { "id": "DOID:0070558", "name": "spinocerebellar ataxia, autosomal recessive 34" }, { "id": "DOID:0070558", "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3" }, { "id": "DOID:0070558", "name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3" }, { "id": "MONDO:0013188", "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3" }, { "id": "MONDO:0013188", "name": "CA8 dysequilibrium syndrome" }, { "id": "MONDO:0013188", "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3" }, { "id": "MONDO:0013188", "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3" }, { "id": "MONDO:0013188", "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" }, { "id": "MONDO:0013188", "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3" }, { "id": "MONDO:0013188", "name": "dysequilibrium syndrome caused by mutation in CA8" }, { "id": "MONDO:0013188", "name": "CAMRQ3" }, { "id": "MONDO:0013188", "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3" }, { "id": "MIM:613227", "name": "Spinocerebellar ataxia, autosomal recessive, 34" } ], "record_url": "http://disease-ontology.org/term/DOID:0070558", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070559", "disease_id": "DOID:0070559", "recommended_name": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4", "synonyms": [ { "id": "DOID:0070559", "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4" }, { "id": "DOID:0070559", "name": "CAMRQ syndrome 4" }, { "id": "DOID:0070559", "name": "CAMRQ4" }, { "id": "DOID:0070559", "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4" }, { "id": "DOID:0070559", "name": "cerebellar ataxia, mental retardation, and disequilibrium syndrome 4" }, { "id": "MONDO:0014104", "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4" }, { "id": "MONDO:0014104", "name": "ATP8A2 dysequilibrium syndrome" }, { "id": "MONDO:0014104", "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4" }, { "id": "MONDO:0014104", "name": "cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4" }, { "id": "MONDO:0014104", "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4" }, { "id": "MONDO:0014104", "name": "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4" }, { "id": "MONDO:0014104", "name": "dysequilibrium syndrome caused by mutation in ATP8A2" }, { "id": "MONDO:0014104", "name": "CAMRQ4" }, { "id": "MONDO:0014104", "name": "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4" }, { "id": "MIM:615268", "name": "Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0070559", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070560", "disease_id": "DOID:0070560", "recommended_name": "glucose transporter type 1 deficiency syndrome", "synonyms": [ { "id": "DOID:0070560", "name": "GLUT1DS" }, { "id": "MONDO:0011724", "name": "encephalopathy due to GLUT1 deficiency" }, { "id": "MONDO:0011724", "name": "De Vivo disease" }, { "id": "MONDO:0011724", "name": "GLUT1 deficiency syndrome 1, infantile onset, severe" }, { "id": "MONDO:0011724", "name": "GLUT1 deficiency syndrome type 1" }, { "id": "MONDO:0011724", "name": "GLUT1-DS" }, { "id": "MONDO:0011724", "name": "Glucose Transporter Type 1 Deficiency Syndrome" }, { "id": "MONDO:0011724", "name": "encephalopathy due to GLUT1 deficiency" }, { "id": "MONDO:0011724", "name": "glucose transporter type 1 deficiency" }, { "id": "MONDO:0011724", "name": "glut-1 deficiency syndrome" }, { "id": "MONDO:0011724", "name": "G1D" }, { "id": "MONDO:0011724", "name": "GLUT1 DS" }, { "id": "MONDO:0011724", "name": "GLUT1 deficiency syndrome" }, { "id": "MONDO:0011724", "name": "GLUT1 deficiency syndrome 1" }, { "id": "MONDO:0011724", "name": "GLUT1DS1" }, { "id": "MONDO:0011724", "name": "glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included" }, { "id": "MONDO:0011724", "name": "glucose transport defect, blood-brain barrier" }, { "id": "MONDO:0011724", "name": "glucose transporter Protein syndrome" }, { "id": "MONDO:0011724", "name": "glucose transporter protein syndrome" }, { "id": "MONDO:0011724", "name": "glucose transporter type 1 deficiency syndrome" }, { "id": "MONDO:0011724", "name": "glucose transporter type1 (glut-1) deficiency" }, { "id": "MIM:606777", "name": "GLUT1 deficiency syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070560", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070561", "disease_id": "DOID:0070561", "recommended_name": "glucose transporter type 1 deficiency syndrome 1", "synonyms": [ { "id": "DOID:0070561", "name": "De Vivo disease" }, { "id": "DOID:0070561", "name": "GLUT1 deficiency syndrome 1" }, { "id": "DOID:0070561", "name": "GLUT1DS1" }, { "id": "DOID:0070561", "name": "classic GLUT1 deficiency syndrome" }, { "id": "DOID:0070561", "name": "classic GLUT1-DS" }, { "id": "DOID:0070561", "name": "encephalopathy due to GLUT1 deficiency" }, { "id": "DOID:0070561", "name": "classic glucose transporter type 1 deficiency syndrome" }, { "id": "MONDO:0011724", "name": "encephalopathy due to GLUT1 deficiency" }, { "id": "MONDO:0011724", "name": "De Vivo disease" }, { "id": "MONDO:0011724", "name": "GLUT1 deficiency syndrome 1, infantile onset, severe" }, { "id": "MONDO:0011724", "name": "GLUT1 deficiency syndrome type 1" }, { "id": "MONDO:0011724", "name": "GLUT1-DS" }, { "id": "MONDO:0011724", "name": "Glucose Transporter Type 1 Deficiency Syndrome" }, { "id": "MONDO:0011724", "name": "encephalopathy due to GLUT1 deficiency" }, { "id": "MONDO:0011724", "name": "glucose transporter type 1 deficiency" }, { "id": "MONDO:0011724", "name": "glut-1 deficiency syndrome" }, { "id": "MONDO:0011724", "name": "G1D" }, { "id": "MONDO:0011724", "name": "GLUT1 DS" }, { "id": "MONDO:0011724", "name": "GLUT1 deficiency syndrome" }, { "id": "MONDO:0011724", "name": "GLUT1 deficiency syndrome 1" }, { "id": "MONDO:0011724", "name": "GLUT1DS1" }, { "id": "MONDO:0011724", "name": "glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included" }, { "id": "MONDO:0011724", "name": "glucose transport defect, blood-brain barrier" }, { "id": "MONDO:0011724", "name": "glucose transporter Protein syndrome" }, { "id": "MONDO:0011724", "name": "glucose transporter protein syndrome" }, { "id": "MONDO:0011724", "name": "glucose transporter type 1 deficiency syndrome" }, { "id": "MONDO:0011724", "name": "glucose transporter type1 (glut-1) deficiency" }, { "id": "MIM:606777", "name": "GLUT1 deficiency syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070561", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070562", "disease_id": "DOID:0070562", "recommended_name": "Fanconi-Bickel syndrome", "synonyms": [ { "id": "DOID:0070562", "name": "FBS" }, { "id": "DOID:0070562", "name": "glycogen storage disease XI" }, { "id": "DOID:0070562", "name": "glycogenosis type XI" }, { "id": "DOID:0070562", "name": "glycogenosis, Fanconi type" }, { "id": "MONDO:0009216", "name": "glycogen storage disease due to GLUT2 deficiency" }, { "id": "MONDO:0009216", "name": "Bickel-Fanconi glycogenosis" }, { "id": "MONDO:0009216", "name": "FBS" }, { "id": "MONDO:0009216", "name": "Fanconi Bickel syndrome" }, { "id": "MONDO:0009216", "name": "Fanconi syndrome with intestinal malabsorption and galactose intolerance" }, { "id": "MONDO:0009216", "name": "Fanconi-Bickel disease" }, { "id": "MONDO:0009216", "name": "Fanconi-Bickel syndrome" }, { "id": "MONDO:0009216", "name": "GSD due to GLUT2 deficiency" }, { "id": "MONDO:0009216", "name": "glycogen storage disease due to GLUT2 deficiency" }, { "id": "MONDO:0009216", "name": "glycogenosis due to GLUT2 deficiency" }, { "id": "MONDO:0009216", "name": "GLUT2 deficiency" }, { "id": "MONDO:0009216", "name": "GSD type 11" }, { "id": "MONDO:0009216", "name": "GSD type XI" }, { "id": "MONDO:0009216", "name": "glycogen storage disease 11" }, { "id": "MONDO:0009216", "name": "glycogen storage disease XI" }, { "id": "MONDO:0009216", "name": "glycogen storage disease type 11" }, { "id": "MONDO:0009216", "name": "glycogen storage disease type XI" }, { "id": "MONDO:0009216", "name": "glycogenosis Fanconi EXACT" }, { "id": "MONDO:0009216", "name": "hepatic glycogenosis with amino aciduria and glucosuria" }, { "id": "MONDO:0009216", "name": "hepatorenal glycogenosis with renal Fanconi syndrome" }, { "id": "MONDO:0009216", "name": "hepatorenal glycogenosis with renal fanconi syndrome" }, { "id": "MONDO:0009216", "name": "pseudo-phlorizin diabetes" }, { "id": "MIM:227810", "name": "Fanconi-Bickel syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070562", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101010" }, { "record_id": "doid.0070563", "disease_id": "DOID:0070563", "recommended_name": "glucose-galactose malabsorption", "synonyms": [ { "id": "DOID:0070563", "name": "GGM" }, { "id": "DOID:0070563", "name": "SGLT1 deficiency" }, { "id": "DOID:0070563", "name": "monosaccharide malabsorption" }, { "id": "MONDO:0011731", "name": "glucose-galactose malabsorption" }, { "id": "MONDO:0011731", "name": "SGLT1 deficiency" }, { "id": "MONDO:0011731", "name": "glucose-galactose malabsorption" }, { "id": "MONDO:0011731", "name": "Complex carbohydrate intolerance" }, { "id": "MONDO:0011731", "name": "GGM" }, { "id": "MONDO:0011731", "name": "carbohydrate intolerance of glucose galactose" }, { "id": "MONDO:0011731", "name": "glucose galactose malabsorption deficiency" }, { "id": "MONDO:0011731", "name": "glucose/galactose malabsorption" }, { "id": "MIM:606824", "name": "Congenital glucose/galactose malabsorption" } ], "record_url": "http://disease-ontology.org/term/DOID:0070563", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070565", "disease_id": "DOID:0070565", "recommended_name": "spermatogenic failure 66", "synonyms": [ { "id": "DOID:0070565", "name": "SPGF66" }, { "id": "MONDO:0030716", "name": "spermatogenic failure 66" }, { "id": "MONDO:0030716", "name": "SPGF66" }, { "id": "MONDO:0030716", "name": "spermatogenic failure 66" }, { "id": "MIM:619799", "name": "Spermatogenic failure 66" } ], "record_url": "http://disease-ontology.org/term/DOID:0070565", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070566", "disease_id": "DOID:0070566", "recommended_name": "spermatogenic failure 67", "synonyms": [ { "id": "DOID:0070566", "name": "SPGF67" }, { "id": "MONDO:0030718", "name": "spermatogenic failure 67" }, { "id": "MONDO:0030718", "name": "SPGF67" }, { "id": "MONDO:0030718", "name": "spermatogenic failure 67" }, { "id": "MIM:619803", "name": "Spermatogenic failure 67" } ], "record_url": "http://disease-ontology.org/term/DOID:0070566", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070567", "disease_id": "DOID:0070567", "recommended_name": "spermatogenic failure 68", "synonyms": [ { "id": "DOID:0070567", "name": "SPGF68" }, { "id": "MONDO:0030721", "name": "spermatogenic failure 68" }, { "id": "MONDO:0030721", "name": "SPGF68" }, { "id": "MONDO:0030721", "name": "spermatogenic failure 68" }, { "id": "MIM:619805", "name": "Spermatogenic failure 68" } ], "record_url": "http://disease-ontology.org/term/DOID:0070567", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070568", "disease_id": "DOID:0070568", "recommended_name": "spermatogenic failure 69", "synonyms": [ { "id": "DOID:0070568", "name": "SPGF69" }, { "id": "MONDO:0030732", "name": "spermatogenic failure 69" }, { "id": "MONDO:0030732", "name": "SPGF69" }, { "id": "MONDO:0030732", "name": "spermatogenic failure 69" }, { "id": "MIM:619826", "name": "Spermatogenic failure 69" } ], "record_url": "http://disease-ontology.org/term/DOID:0070568", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070569", "disease_id": "DOID:0070569", "recommended_name": "spermatogenic failure 70", "synonyms": [ { "id": "DOID:0070569", "name": "SPGF70" }, { "id": "MONDO:0030733", "name": "spermatogenic failure 70" }, { "id": "MONDO:0030733", "name": "SPGF70" }, { "id": "MONDO:0030733", "name": "spermatogenic failure 70" }, { "id": "MIM:619828", "name": "Spermatogenic failure 70" } ], "record_url": "http://disease-ontology.org/term/DOID:0070569", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0070570", "disease_id": "DOID:0070570", "recommended_name": "spermatogenic failure 71", "synonyms": [ { "id": "DOID:0070570", "name": "SPGF71" }, { "id": "MONDO:0030787", "name": "spermatogenic failure 71" }, { "id": "MONDO:0030787", "name": "SPGF71" }, { "id": "MONDO:0030787", "name": "spermatogenic failure 71" }, { "id": "MIM:619831", "name": "Spermatogenic failure 71" } ], "record_url": "http://disease-ontology.org/term/DOID:0070570", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070571", "disease_id": "DOID:0070571", "recommended_name": "spermatogenic failure 72", "synonyms": [ { "id": "DOID:0070571", "name": "SPGF72" }, { "id": "MONDO:0030809", "name": "spermatogenic failure 72" }, { "id": "MONDO:0030809", "name": "SPGF72" }, { "id": "MONDO:0030809", "name": "spermatogenic failure 72" }, { "id": "MIM:619867", "name": "Spermatogenic failure 72" } ], "record_url": "http://disease-ontology.org/term/DOID:0070571", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070572", "disease_id": "DOID:0070572", "recommended_name": "spermatogenic failure 73", "synonyms": [ { "id": "DOID:0070572", "name": "SPGF73" }, { "id": "MONDO:0030818", "name": "spermatogenic failure 73" }, { "id": "MONDO:0030818", "name": "SPGF73" }, { "id": "MONDO:0030818", "name": "spermatogenic failure 73" }, { "id": "MIM:619878", "name": "Spermatogenic failure 73" } ], "record_url": "http://disease-ontology.org/term/DOID:0070572", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0070573", "disease_id": "DOID:0070573", "recommended_name": "spermatogenic failure 74", "synonyms": [ { "id": "DOID:0070573", "name": "SPGF74" }, { "id": "MONDO:0030972", "name": "spermatogenic failure 74" }, { "id": "MONDO:0030972", "name": "SPGF74" }, { "id": "MONDO:0030972", "name": "spermatogenic failure 74" }, { "id": "MIM:619937", "name": "Spermatogenic failure 74" } ], "record_url": "http://disease-ontology.org/term/DOID:0070573", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0070574", "disease_id": "DOID:0070574", "recommended_name": "spermatogenic failure 75", "synonyms": [ { "id": "DOID:0070574", "name": "SPGF75" }, { "id": "MONDO:0030984", "name": "spermatogenic failure 75" }, { "id": "MONDO:0030984", "name": "SPGF75" }, { "id": "MONDO:0030984", "name": "spermatogenic failure 75" }, { "id": "MIM:619949", "name": "Spermatogenic failure 75" } ], "record_url": "http://disease-ontology.org/term/DOID:0070574", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070575", "disease_id": "DOID:0070575", "recommended_name": "spermatogenic failure 76", "synonyms": [ { "id": "DOID:0070575", "name": "SPGF76" }, { "id": "MONDO:0031077", "name": "spermatogenic failure 76" }, { "id": "MONDO:0031077", "name": "SPGF76" }, { "id": "MONDO:0031077", "name": "spermatogenic failure 76" }, { "id": "MIM:620084", "name": "Spermatogenic failure 76" } ], "record_url": "http://disease-ontology.org/term/DOID:0070575", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070576", "disease_id": "DOID:0070576", "recommended_name": "spermatogenic failure 77", "synonyms": [ { "id": "DOID:0070576", "name": "SPGF77" }, { "id": "MONDO:0031083", "name": "spermatogenic failure 77" }, { "id": "MONDO:0031083", "name": "SPGF77" }, { "id": "MONDO:0031083", "name": "spermatogenic failure 77" }, { "id": "MIM:620103", "name": "Spermatogenic failure 77" } ], "record_url": "http://disease-ontology.org/term/DOID:0070576", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0070577", "disease_id": "DOID:0070577", "recommended_name": "spermatogenic failure 78", "synonyms": [ { "id": "DOID:0070577", "name": "SPGF78" }, { "id": "MONDO:0859338", "name": "spermatogenic failure 78" }, { "id": "MIM:620170", "name": "Spermatogenic failure 78" } ], "record_url": "http://disease-ontology.org/term/DOID:0070577", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070578", "disease_id": "DOID:0070578", "recommended_name": "spermatogenic failure 79", "synonyms": [ { "id": "DOID:0070578", "name": "SPGF79" }, { "id": "MONDO:0859352", "name": "spermatogenic failure 79" }, { "id": "MIM:620196", "name": "Spermatogenic failure 79" } ], "record_url": "http://disease-ontology.org/term/DOID:0070578", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0070579", "disease_id": "DOID:0070579", "recommended_name": "spermatogenic failure 80", "synonyms": [ { "id": "DOID:0070579", "name": "SPGF80" }, { "id": "MONDO:0859364", "name": "spermatogenic failure 80" }, { "id": "MIM:620222", "name": "Spermatogenic failure 80" } ], "record_url": "http://disease-ontology.org/term/DOID:0070579", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070580", "disease_id": "DOID:0070580", "recommended_name": "spermatogenic failure 81", "synonyms": [ { "id": "DOID:0070580", "name": "SPGF81" }, { "id": "MONDO:0859522", "name": "spermatogenic failure 81" }, { "id": "MIM:620277", "name": "Spermatogenic failure 81" } ], "record_url": "http://disease-ontology.org/term/DOID:0070580", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070581", "disease_id": "DOID:0070581", "recommended_name": "spermatogenic failure 82", "synonyms": [ { "id": "DOID:0070581", "name": "SPGF82" }, { "id": "MONDO:0957249", "name": "spermatogenic failure 82" }, { "id": "MIM:620353", "name": "Spermatogenic failure 82" } ], "record_url": "http://disease-ontology.org/term/DOID:0070581", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070582", "disease_id": "DOID:0070582", "recommended_name": "spermatogenic failure 83", "synonyms": [ { "id": "DOID:0070582", "name": "SPGF83" }, { "id": "MONDO:0957250", "name": "spermatogenic failure 83" }, { "id": "MIM:620354", "name": "Spermatogenic failure 83" } ], "record_url": "http://disease-ontology.org/term/DOID:0070582", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070583", "disease_id": "DOID:0070583", "recommended_name": "spermatogenic failure 84", "synonyms": [ { "id": "DOID:0070583", "name": "SPGF84" }, { "id": "MONDO:0957301", "name": "spermatogenic failure 84" }, { "id": "MIM:620409", "name": "Spermatogenic failure 84" } ], "record_url": "http://disease-ontology.org/term/DOID:0070583", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070584", "disease_id": "DOID:0070584", "recommended_name": "spermatogenic failure 85", "synonyms": [ { "id": "DOID:0070584", "name": "SPGF85" }, { "id": "MONDO:0957584", "name": "spermatogenic failure 85" }, { "id": "MIM:620490", "name": "Spermatogenic failure 85" } ], "record_url": "http://disease-ontology.org/term/DOID:0070584", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070585", "disease_id": "DOID:0070585", "recommended_name": "spermatogenic failure 86", "synonyms": [ { "id": "DOID:0070585", "name": "SPGF86" }, { "id": "MONDO:0957593", "name": "spermatogenic failure 86" }, { "id": "MIM:620499", "name": "Spermatogenic failure 86" } ], "record_url": "http://disease-ontology.org/term/DOID:0070585", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0070586", "disease_id": "DOID:0070586", "recommended_name": "spermatogenic failure 87", "synonyms": [ { "id": "DOID:0070586", "name": "SPGF87" }, { "id": "MONDO:0957594", "name": "spermatogenic failure 87" }, { "id": "MIM:620500", "name": "Spermatogenic failure 87" } ], "record_url": "http://disease-ontology.org/term/DOID:0070586", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070587", "disease_id": "DOID:0070587", "recommended_name": "spermatogenic failure 88", "synonyms": [ { "id": "DOID:0070587", "name": "SPGF88" }, { "id": "MONDO:0957821", "name": "spermatogenic failure 88" }, { "id": "MIM:620547", "name": "Spermatogenic failure 88" } ], "record_url": "http://disease-ontology.org/term/DOID:0070587", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070588", "disease_id": "DOID:0070588", "recommended_name": "spermatogenic failure 89", "synonyms": [ { "id": "DOID:0070588", "name": "SPGF89" }, { "id": "MONDO:0958206", "name": "spermatogenic failure 89" }, { "id": "MIM:620705", "name": "Spermatogenic failure 89" } ], "record_url": "http://disease-ontology.org/term/DOID:0070588", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070589", "disease_id": "DOID:0070589", "recommended_name": "spermatogenic failure 90", "synonyms": [ { "id": "DOID:0070589", "name": "SPGF90" }, { "id": "MONDO:0958242", "name": "spermatogenic failure 90" }, { "id": "MIM:620744", "name": "Spermatogenic failure 90" } ], "record_url": "http://disease-ontology.org/term/DOID:0070589", "snv_count": 0, "protein_count": 2, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.3, "record_type": "disease", "filter_code": "0000000.100.000000000001100000" }, { "record_id": "doid.0070590", "disease_id": "DOID:0070590", "recommended_name": "spermatogenic failure 91", "synonyms": [ { "id": "DOID:0070590", "name": "SPGF91" }, { "id": "MONDO:0970952", "name": "spermatogenic failure 91" }, { "id": "MIM:620838", "name": "Spermatogenic failure 91" } ], "record_url": "http://disease-ontology.org/term/DOID:0070590", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070591", "disease_id": "DOID:0070591", "recommended_name": "spermatogenic failure 92", "synonyms": [ { "id": "DOID:0070591", "name": "SPGF92" }, { "id": "MONDO:0970999", "name": "spermatogenic failure 92" }, { "id": "MIM:620848", "name": "Spermatogenic failure 92" } ], "record_url": "http://disease-ontology.org/term/DOID:0070591", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070592", "disease_id": "DOID:0070592", "recommended_name": "spermatogenic failure 93", "synonyms": [ { "id": "DOID:0070592", "name": "SPGF93" }, { "id": "MONDO:0971000", "name": "spermatogenic failure 93" }, { "id": "MIM:620849", "name": "Spermatogenic failure 93" } ], "record_url": "http://disease-ontology.org/term/DOID:0070592", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070593", "disease_id": "DOID:0070593", "recommended_name": "spermatogenic failure 94", "synonyms": [ { "id": "DOID:0070593", "name": "SPGF94" }, { "id": "MONDO:0971002", "name": "spermatogenic failure 94" }, { "id": "MIM:620850", "name": "Spermatogenic failure 94" } ], "record_url": "http://disease-ontology.org/term/DOID:0070593", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070594", "disease_id": "DOID:0070594", "recommended_name": "spermatogenic failure 95", "synonyms": [ { "id": "DOID:0070594", "name": "SPGF95" }, { "id": "MONDO:0975747", "name": "spermatogenic failure 95" }, { "id": "MIM:620917", "name": "Spermatogenic failure 95" } ], "record_url": "http://disease-ontology.org/term/DOID:0070594", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0070595", "disease_id": "DOID:0070595", "recommended_name": "X-linked spermatogenic failure 4", "synonyms": [ { "id": "DOID:0070595", "name": "SPGFX4" }, { "id": "MONDO:0024773", "name": "spermatogenic failure, X-linked, 4" }, { "id": "MONDO:0024773", "name": "SPGFX4" }, { "id": "MONDO:0024773", "name": "spermatogenic failure, X-linked, 4" }, { "id": "MIM:301077", "name": "Spermatogenic failure, X-linked, 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0070595", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Human;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001000001" }, { "record_id": "doid.0070596", "disease_id": "DOID:0070596", "recommended_name": "X-linked spermatogenic failure 5", "synonyms": [ { "id": "DOID:0070596", "name": "SPGFX5" }, { "id": "MONDO:0859477", "name": "spermatogenic failure, X-linked, 5" }, { "id": "MIM:301099", "name": "Spermatogenic failure, X-linked, 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0070596", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070597", "disease_id": "DOID:0070597", "recommended_name": "X-linked spermatogenic failure 6", "synonyms": [ { "id": "DOID:0070597", "name": "SPGFX6" }, { "id": "MONDO:0859478", "name": "spermatogenic failure, X-linked, 6" }, { "id": "MIM:301101", "name": "Spermatogenic failure, X-linked, 6" } ], "record_url": "http://disease-ontology.org/term/DOID:0070597", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070598", "disease_id": "DOID:0070598", "recommended_name": "X-linked spermatogenic failure 7", "synonyms": [ { "id": "DOID:0070598", "name": "SPGFX7" }, { "id": "MONDO:0957202", "name": "spermatogenic failure, X-linked, 7" }, { "id": "MIM:301106", "name": "Spermatogenic failure, X-linked, 7" } ], "record_url": "http://disease-ontology.org/term/DOID:0070598", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070599", "disease_id": "DOID:0070599", "recommended_name": "X-linked spermatogenic failure 8", "synonyms": [ { "id": "DOID:0070599", "name": "SPGFX8" }, { "id": "MONDO:0970943", "name": "spermatogenic failure, X-linked, 8" }, { "id": "MIM:301119", "name": "Spermatogenic failure, X-linked, 8" } ], "record_url": "http://disease-ontology.org/term/DOID:0070599", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070600", "disease_id": "DOID:0070600", "recommended_name": "intellectual disability and myopathy syndrome", "synonyms": [ { "id": "DOID:0070600", "name": "ABCC9-related intellectual disability and myopathy" }, { "id": "DOID:0070600", "name": "AIMS" }, { "id": "DOID:0070600", "name": "IDMYS" }, { "id": "MONDO:0859224", "name": "intellectual disability and myopathy syndrome" }, { "id": "MIM:619719", "name": "Intellectual disability and myopathy syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070600", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070601", "disease_id": "DOID:0070601", "recommended_name": "autosomal dominant nonsyndromic deafness 37", "synonyms": [ { "id": "DOID:0070601", "name": "DFNA37" }, { "id": "DOID:0070601", "name": "autosomal dominant deafness 37" }, { "id": "MONDO:0032802", "name": "hearing loss, autosomal dominant 37" }, { "id": "MONDO:0032802", "name": "DEAFNESS, AUTOSOMAL DOMINANT 37" }, { "id": "MONDO:0032802", "name": "DFNA37" }, { "id": "MONDO:0032802", "name": "deafness, autosomal dominant 37" }, { "id": "MIM:618533", "name": "Deafness, autosomal dominant, 37" } ], "record_url": "http://disease-ontology.org/term/DOID:0070601", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070602", "disease_id": "DOID:0070602", "recommended_name": "autosomal dominant nonsyndromic deafness 80", "synonyms": [ { "id": "DOID:0070602", "name": "DFNA80" }, { "id": "DOID:0070602", "name": "autosomal dominant deafness 80" }, { "id": "MONDO:0030998", "name": "hearing loss, autosomal dominant 80" }, { "id": "MONDO:0030998", "name": "DFNA80" }, { "id": "MONDO:0030998", "name": "deafness, autosomal dominant 80" }, { "id": "MIM:619274", "name": "Deafness, autosomal dominant, 80" } ], "record_url": "http://disease-ontology.org/term/DOID:0070602", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070603", "disease_id": "DOID:0070603", "recommended_name": "autosomal dominant nonsyndromic deafness 82", "synonyms": [ { "id": "DOID:0070603", "name": "DFNA82" }, { "id": "DOID:0070603", "name": "autosomal dominant deafness 82" }, { "id": "MONDO:0030719", "name": "hearing loss, autosomal dominant 82" }, { "id": "MONDO:0030719", "name": "DFNA82" }, { "id": "MONDO:0030719", "name": "deafness, autosomal dominant 82" }, { "id": "MIM:619804", "name": "Deafness, autosomal dominant, 82" } ], "record_url": "http://disease-ontology.org/term/DOID:0070603", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0070604", "disease_id": "DOID:0070604", "recommended_name": "autosomal dominant nonsyndromic deafness 84", "synonyms": [ { "id": "DOID:0070604", "name": "DFNA84" }, { "id": "DOID:0070604", "name": "autosomal dominant deafness 84" }, { "id": "MONDO:0030724", "name": "hearing loss, autosomal dominant 84" }, { "id": "MONDO:0030724", "name": "DFNA84" }, { "id": "MONDO:0030724", "name": "deafness, autosomal dominant 84" }, { "id": "MIM:619810", "name": "Deafness, autosomal dominant, 84" } ], "record_url": "http://disease-ontology.org/term/DOID:0070604", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070605", "disease_id": "DOID:0070605", "recommended_name": "autosomal dominant nonsyndromic deafness 85", "synonyms": [ { "id": "DOID:0070605", "name": "DFNA85" }, { "id": "DOID:0070605", "name": "autosomal dominant deafness 85" }, { "id": "MONDO:0859366", "name": "hearing loss, autosomal dominant 85" }, { "id": "MONDO:0859366", "name": "deafness, autosomal dominant 85" }, { "id": "MIM:620227", "name": "Deafness, autosomal dominant, 85" } ], "record_url": "http://disease-ontology.org/term/DOID:0070605", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0070606", "disease_id": "DOID:0070606", "recommended_name": "autosomal dominant nonsyndromic deafness 87", "synonyms": [ { "id": "DOID:0070606", "name": "DFNA87" }, { "id": "DOID:0070606", "name": "autosomal dominant deafness 87" }, { "id": "MONDO:0859525", "name": "hearing loss, autosomal dominant 87" }, { "id": "MIM:620281", "name": "Deafness, autosomal dominant, 87" } ], "record_url": "http://disease-ontology.org/term/DOID:0070606", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070607", "disease_id": "DOID:0070607", "recommended_name": "autosomal dominant nonsyndromic deafness 90", "synonyms": [ { "id": "DOID:0070607", "name": "DFNA90" }, { "id": "DOID:0070607", "name": "autosomal dominant deafness 90" }, { "id": "MONDO:0958232", "name": "hearing loss, autosomal dominant 90" }, { "id": "MONDO:0958232", "name": "deafness, autosomal dominant 90" }, { "id": "MIM:620722", "name": "Deafness, autosomal dominant, 90" } ], "record_url": "http://disease-ontology.org/term/DOID:0070607", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070608", "disease_id": "DOID:0070608", "recommended_name": "autosomal dominant nonsyndromic deafness 81", "synonyms": [ { "id": "DOID:0070608", "name": "DFNA81" }, { "id": "DOID:0070608", "name": "autosomal dominant deafness 81" }, { "id": "MONDO:0030549", "name": "hearing loss, autosomal dominant 81" }, { "id": "MONDO:0030549", "name": "DFNA81" }, { "id": "MONDO:0030549", "name": "hearing loss, autosomal dominant 81" }, { "id": "MONDO:0030549", "name": "deafness, autosomal dominant 81" }, { "id": "MIM:619500", "name": "Deafness, autosomal dominant, 81" } ], "record_url": "http://disease-ontology.org/term/DOID:0070608", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070609", "disease_id": "DOID:0070609", "recommended_name": "autosomal dominant nonsyndromic deafness 83", "synonyms": [ { "id": "DOID:0070609", "name": "DFNA83" }, { "id": "DOID:0070609", "name": "autosomal dominant deafness 83" }, { "id": "MONDO:0030723", "name": "hearing loss, autosomal dominant 83" }, { "id": "MONDO:0030723", "name": "DFNA83" }, { "id": "MONDO:0030723", "name": "deafness, autosomal dominant 83" }, { "id": "MIM:619808", "name": "Deafness, autosomal dominant, 83" } ], "record_url": "http://disease-ontology.org/term/DOID:0070609", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0070610", "disease_id": "DOID:0070610", "recommended_name": "autosomal dominant nonsyndromic deafness 86", "synonyms": [ { "id": "DOID:0070610", "name": "DFNA86" }, { "id": "DOID:0070610", "name": "autosomal dominant deafness 86" }, { "id": "MONDO:0859524", "name": "hearing loss, autosomal dominant 86" }, { "id": "MIM:620280", "name": "Deafness, autosomal dominant, 86" } ], "record_url": "http://disease-ontology.org/term/DOID:0070610", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070611", "disease_id": "DOID:0070611", "recommended_name": "autosomal dominant nonsyndromic deafness 88", "synonyms": [ { "id": "DOID:0070611", "name": "DFNA88" }, { "id": "DOID:0070611", "name": "autosomal dominant deafness 88" }, { "id": "MONDO:0859527", "name": "hearing loss, autosomal dominant 88" }, { "id": "MIM:620283", "name": "Deafness, autosomal dominant, 88" } ], "record_url": "http://disease-ontology.org/term/DOID:0070611", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0070612", "disease_id": "DOID:0070612", "recommended_name": "autosomal dominant nonsyndromic deafness 89", "synonyms": [ { "id": "DOID:0070612", "name": "DFNA89" }, { "id": "DOID:0070612", "name": "autosomal dominant deafness 89" }, { "id": "MONDO:0859528", "name": "hearing loss, autosomal dominant 89" }, { "id": "MIM:620284", "name": "Deafness, autosomal dominant, 89" } ], "record_url": "http://disease-ontology.org/term/DOID:0070612", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070613", "disease_id": "DOID:0070613", "recommended_name": "familial renal glucosuria", "synonyms": [ { "id": "DOID:0070613", "name": "FRG" }, { "id": "DOID:0070613", "name": "SGLT2 deficiency" }, { "id": "DOID:0070613", "name": "familial renal glycosuria" }, { "id": "DOID:0070613", "name": "hereditary renal glycosuria" }, { "id": "MONDO:0009297", "name": "familial renal glucosuria" }, { "id": "MONDO:0009297", "name": "Renal Glycosuria" }, { "id": "MONDO:0009297", "name": "SGLT2 deficiency" }, { "id": "MONDO:0009297", "name": "familial renal glucosuria" }, { "id": "MONDO:0009297", "name": "GLYS" }, { "id": "MONDO:0009297", "name": "renal glucosuria" }, { "id": "MONDO:0009297", "name": "renal glycosuria" }, { "id": "MIM:233100", "name": "Renal glucosuria" } ], "record_url": "http://disease-ontology.org/term/DOID:0070613", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070615", "disease_id": "DOID:0070615", "recommended_name": "autoinflammation, antibody deficiency, and immune dysregulation syndrome", "synonyms": [ { "id": "DOID:0070615", "name": "APLAID" }, { "id": "DOID:0070615", "name": "autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation" }, { "id": "MONDO:0013944", "name": "autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation" }, { "id": "MONDO:0013944", "name": "APLAID" }, { "id": "MONDO:0013944", "name": "AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated" }, { "id": "MIM:614878", "name": "Autoinflammation, antibody deficiency, and immune dysregulation" } ], "record_url": "http://disease-ontology.org/term/DOID:0070615", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070616", "disease_id": "DOID:0070616", "recommended_name": "glycine encephalopathy 1", "synonyms": [ { "id": "DOID:0070616", "name": "GCE1" }, { "id": "MONDO:0958179", "name": "glycine encephalopathy 1" }, { "id": "MIM:605899", "name": "Non-ketotic hyperglycinemia" } ], "record_url": "http://disease-ontology.org/term/DOID:0070616", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0070617", "disease_id": "DOID:0070617", "recommended_name": "rhabdoid tumor predisposition syndrome", "synonyms": [ { "id": "DOID:0070617", "name": "familial posterior fossa brain tumor syndrome of infancy" }, { "id": "DOID:0070617", "name": "RTPS" }, { "id": "DOID:0070617", "name": "rhabdoid predisposition syndrome" }, { "id": "MONDO:0012252", "name": "rhabdoid tumor predisposition syndrome 1" }, { "id": "MONDO:0012252", "name": "SMARCB1 familial rhabdoid tumor" }, { "id": "MONDO:0012252", "name": "SMARCB1 familial rhabdoid tumour" }, { "id": "MONDO:0012252", "name": "familial rhabdoid tumor caused by mutation in SMARCB1" }, { "id": "MONDO:0012252", "name": "familial rhabdoid tumour caused by mutation in SMARCB1" }, { "id": "MONDO:0012252", "name": "rhabdoid tumor predisposition syndrome 1" }, { "id": "MONDO:0012252", "name": "rhabdoid tumor predisposition syndrome type 1" }, { "id": "MONDO:0012252", "name": "rhabdoid tumors, somatic" }, { "id": "MONDO:0012252", "name": "rhabdoid tumour predisposition syndrome type 1" }, { "id": "MONDO:0012252", "name": "RTPS1" }, { "id": "MIM:609322", "name": "Rhabdoid tumor predisposition syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070617", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070618", "disease_id": "DOID:0070618", "recommended_name": "rhabdoid tumor predisposition syndrome 1", "synonyms": [ { "id": "DOID:0070618", "name": "RTPS1" }, { "id": "MONDO:0012252", "name": "rhabdoid tumor predisposition syndrome 1" }, { "id": "MONDO:0012252", "name": "SMARCB1 familial rhabdoid tumor" }, { "id": "MONDO:0012252", "name": "SMARCB1 familial rhabdoid tumour" }, { "id": "MONDO:0012252", "name": "familial rhabdoid tumor caused by mutation in SMARCB1" }, { "id": "MONDO:0012252", "name": "familial rhabdoid tumour caused by mutation in SMARCB1" }, { "id": "MONDO:0012252", "name": "rhabdoid tumor predisposition syndrome 1" }, { "id": "MONDO:0012252", "name": "rhabdoid tumor predisposition syndrome type 1" }, { "id": "MONDO:0012252", "name": "rhabdoid tumors, somatic" }, { "id": "MONDO:0012252", "name": "rhabdoid tumour predisposition syndrome type 1" }, { "id": "MONDO:0012252", "name": "RTPS1" }, { "id": "MIM:609322", "name": "Rhabdoid tumor predisposition syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070618", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070619", "disease_id": "DOID:0070619", "recommended_name": "mitochondrial trifunctional protein deficiency 1", "synonyms": [ { "id": "DOID:0070619", "name": "MTPD1" }, { "id": "MONDO:0958181", "name": "mitochondrial trifunctional protein deficiency 1" }, { "id": "MIM:609015", "name": "Mitochondrial trifunctional protein deficiency 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070619", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0070634", "disease_id": "DOID:0070634", "recommended_name": "sitosterolemia 1", "synonyms": [ { "id": "MONDO:0020747", "name": "sitosterolemia 1" }, { "id": "MONDO:0020747", "name": "STSL1" }, { "id": "MONDO:0020747", "name": "sitosterolemia 1" }, { "id": "MIM:210250", "name": "Sitosterolemia 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070634", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070636", "disease_id": "DOID:0070636", "recommended_name": "mirror movements 1", "synonyms": [ { "id": "MONDO:0008002", "name": "mirror movements 1" }, { "id": "MONDO:0008002", "name": "DCC familial congenital mirror movements" }, { "id": "MONDO:0008002", "name": "familial congenital mirror movements caused by mutation in DCC" }, { "id": "MONDO:0008002", "name": "mirror movements 1" }, { "id": "MONDO:0008002", "name": "mirror movements type 1" }, { "id": "MONDO:0008002", "name": "MRMV1" }, { "id": "MIM:157600", "name": "Mirror movements 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070636", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0070637", "disease_id": "DOID:0070637", "recommended_name": "mirror movements 2", "synonyms": [ { "id": "MONDO:0013790", "name": "mirror movements 2" }, { "id": "MONDO:0013790", "name": "RAD51 familial congenital mirror movements" }, { "id": "MONDO:0013790", "name": "familial congenital mirror movements caused by mutation in RAD51" }, { "id": "MONDO:0013790", "name": "mirror movements 2" }, { "id": "MONDO:0013790", "name": "mirror movements type 2" }, { "id": "MONDO:0013790", "name": "MRMV2" }, { "id": "MIM:614508", "name": "Mirror movements 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0070637", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001100011" }, { "record_id": "doid.0070638", "disease_id": "DOID:0070638", "recommended_name": "mirror movements 4", "synonyms": [ { "id": "MONDO:0032641", "name": "mirror movements 4" }, { "id": "MONDO:0032641", "name": "MRMV4" }, { "id": "MIM:618264", "name": "Mirror movements 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0070638", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070639", "disease_id": "DOID:0070639", "recommended_name": "mirror movements 3", "synonyms": [ { "id": "MONDO:0014478", "name": "mirror movements 3" }, { "id": "MONDO:0014478", "name": "DNAL4 familial congenital mirror movements" }, { "id": "MONDO:0014478", "name": "familial congenital mirror movements caused by mutation in DNAL4" }, { "id": "MONDO:0014478", "name": "mirror movements 3" }, { "id": "MONDO:0014478", "name": "mirror movements type 3" }, { "id": "MONDO:0014478", "name": "MRMV3" }, { "id": "MIM:616059", "name": "Mirror movements 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0070639", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0070640", "disease_id": "DOID:0070640", "recommended_name": "hereditary spastic paraplegia 18A", "synonyms": [ { "id": "DOID:0070640", "name": "autosomal dominant spastic paraplegia 18" }, { "id": "DOID:0070640", "name": "spastic paraplegia 18A" }, { "id": "MONDO:0957788", "name": "spastic paraplegia 18a, autosomal dominant" }, { "id": "MIM:620512", "name": "Spastic paraplegia 18A, autosomal dominant" } ], "record_url": "http://disease-ontology.org/term/DOID:0070640", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070641", "disease_id": "DOID:0070641", "recommended_name": "hereditary spastic paraplegia 18B", "synonyms": [ { "id": "DOID:0070641", "name": "intellectual disability, motor dysfunction and joint contractures" }, { "id": "DOID:0070641", "name": "IDMDC" }, { "id": "DOID:0070641", "name": "autosomal recessive spastic paraplegia 18" }, { "id": "DOID:0070641", "name": "autosomal recessive spastic paraplegia type 18" }, { "id": "DOID:0070641", "name": "spastic paraplegia 18B" }, { "id": "MONDO:0700309", "name": "spastic paraplegia 18b, autosomal recessive" }, { "id": "MIM:611225", "name": "Spastic paraplegia 18B, autosomal recessive" } ], "record_url": "http://disease-ontology.org/term/DOID:0070641", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070642", "disease_id": "DOID:0070642", "recommended_name": "hereditary spastic paraplegia 72B", "synonyms": [ { "id": "DOID:0070642", "name": "autosomal recessive spastic paraplegia 72" }, { "id": "DOID:0070642", "name": "spastic paraplegia 72B" }, { "id": "MONDO:0957958", "name": "spastic paraplegia 72b, autosomal recessive" }, { "id": "MIM:620606", "name": "Spastic paraplegia 72B, autosomal recessive" } ], "record_url": "http://disease-ontology.org/term/DOID:0070642", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070643", "disease_id": "DOID:0070643", "recommended_name": "hereditary spastic paraplegia 91", "synonyms": [ { "id": "DOID:0070643", "name": "autosomal dominant spastic paraplegia 91 with or without cerebellar ataxia" }, { "id": "DOID:0070643", "name": "autosomal dominant spastic paraplegia 91" }, { "id": "MONDO:0957813", "name": "spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia" }, { "id": "MIM:620538", "name": "Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia" } ], "record_url": "http://disease-ontology.org/term/DOID:0070643", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070644", "disease_id": "DOID:0070644", "recommended_name": "hereditary spastic paraplegia 92", "synonyms": [ { "id": "DOID:0070644", "name": "SPG92" }, { "id": "DOID:0070644", "name": "autosomal recessive spastic paraplegia 92" }, { "id": "MONDO:0975746", "name": "spastic paraplegia 92, autosomal recessive" }, { "id": "MIM:620911", "name": "Spastic paraplegia 92, autosomal recessive" } ], "record_url": "http://disease-ontology.org/term/DOID:0070644", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070645", "disease_id": "DOID:0070645", "recommended_name": "hereditary spastic paraplegia 93", "synonyms": [ { "id": "DOID:0070645", "name": "autosomal recessive spastic paraplegia 93" }, { "id": "MONDO:0975796", "name": "spastic paraplegia 93, autosomal recessive" }, { "id": "MIM:620938", "name": "Spastic paraplegia 93, autosomal recessive" } ], "record_url": "http://disease-ontology.org/term/DOID:0070645", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070646", "disease_id": "DOID:0070646", "recommended_name": "hereditary spastic paraplegia 30B", "synonyms": [ { "id": "DOID:0070646", "name": "autosomal recessive spastic paraplegia 30" }, { "id": "MONDO:0971149", "name": "spastic paraplegia 30B, autosomal recessive" }, { "id": "MIM:620607", "name": "Spastic paraplegia 30B, autosomal recessive" } ], "record_url": "http://disease-ontology.org/term/DOID:0070646", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070647", "disease_id": "DOID:0070647", "recommended_name": "hereditary spastic paraplegia 30A", "synonyms": [ { "id": "DOID:0070647", "name": "autosomal dominant spastic paraplegia 30" }, { "id": "DOID:0070647", "name": "spastic paraplegia 30A" }, { "id": "MONDO:0700307", "name": "spastic paraplegia 30A, autosomal dominant" }, { "id": "MIM:610357", "name": "Spastic paraplegia 30A, autosomal dominant" } ], "record_url": "http://disease-ontology.org/term/DOID:0070647", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070651", "disease_id": "DOID:0070651", "recommended_name": "neurodevelopmental disorder with seizures and gingival overgrowth", "synonyms": [ { "id": "MONDO:0859148", "name": "neurodevelopmental disorder with seizures and gingival overgrowth" }, { "id": "MIM:619323", "name": "Neurodevelopmental disorder with seizures and gingival overgrowth" } ], "record_url": "http://disease-ontology.org/term/DOID:0070651", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070652", "disease_id": "DOID:0070652", "recommended_name": "Nil-Deshwar neurodevelopmental syndrome", "synonyms": [ { "id": "MONDO:0979246", "name": "Nil-Deshwar neurodevelopmental syndrome" }, { "id": "MIM:621265", "name": "Nil-Deshwar neurodevelopmental syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070652", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070653", "disease_id": "DOID:0070653", "recommended_name": "Fliedner-Zweier syndrome", "synonyms": [ { "id": "DOID:0070653", "name": "SCAF4-related syndromic intellectual disability" }, { "id": "MONDO:0957787", "name": "Fliedner-Zweier syndrome" }, { "id": "MIM:620511", "name": "Fliedner-Zweier syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070653", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0070654", "disease_id": "DOID:0070654", "recommended_name": "desmosterolosis", "synonyms": [ { "id": "MONDO:0011217", "name": "desmosterolosis" }, { "id": "MONDO:0011217", "name": "desmosterolosis" }, { "id": "MIM:602398", "name": "Desmosterolosis" } ], "record_url": "http://disease-ontology.org/term/DOID:0070654", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0070655", "disease_id": "DOID:0070655", "recommended_name": "Usher syndrome type 1B", "synonyms": [ { "id": "DOID:0070655", "name": "USH1B" }, { "id": "DOID:0070655", "name": "Usher syndrome type IB" }, { "id": "MONDO:0700087", "name": "Usher syndrome type 1B" }, { "id": "MONDO:0700087", "name": "Usher syndrome, type 1B" }, { "id": "MIM:276900", "name": "Usher syndrome 1B" } ], "record_url": "http://disease-ontology.org/term/DOID:0070655", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070657", "disease_id": "DOID:0070657", "recommended_name": "congenital variant of Rett syndrome", "synonyms": [ { "id": "DOID:0070657", "name": "FOXG1 syndrome" }, { "id": "DOID:0070657", "name": "Rett syndrome, congenital variant" }, { "id": "MONDO:0100040", "name": "FOXG1 disorder" }, { "id": "MONDO:0100040", "name": "FOXG1 disorder" }, { "id": "MONDO:0100040", "name": "FOXG1 inherited genetic disease" }, { "id": "MONDO:0100040", "name": "FOXG1 syndrome" }, { "id": "MONDO:0100040", "name": "FOXG1 syndrome due to intragenic alteration" }, { "id": "MONDO:0100040", "name": "FOXG1-related epileptic-dyskinetic encephalopathy" }, { "id": "MONDO:0100040", "name": "Rett syndrome, congenital variant" }, { "id": "MONDO:0100040", "name": "inherited genetic disease caused by mutation in FOXG1" }, { "id": "MIM:613454", "name": "Rett syndrome congenital variant" } ], "record_url": "http://disease-ontology.org/term/DOID:0070657", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0070658", "disease_id": "DOID:0070658", "recommended_name": "alcohol-associated liver disease", "synonyms": [ { "id": "DOID:0070658", "name": "ALD" }, { "id": "DOID:0070658", "name": "alcohol-related liver disease" }, { "id": "DOID:0070658", "name": "alcoholic liver disease" } ], "record_url": "http://disease-ontology.org/term/DOID:0070658", "snv_count": 0, "protein_count": 293, "glycan_count": 0, "biomarker_count": 1, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "diagnostic", "biomarker_id": "BD0291-1", "hit_score": 29.4, "record_type": "disease", "filter_code": "1000000.101.000000100001101011" }, { "record_id": "doid.0070660", "disease_id": "DOID:0070660", "recommended_name": "Lafora disease 1", "synonyms": [ { "id": "DOID:0070660", "name": "progressive myoclonic epilepsy 2A" }, { "id": "MONDO:0958199", "name": "myoclonic epilepsy of Lafora 1" }, { "id": "MIM:254780", "name": "Myoclonic epilepsy of lafora 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070660", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070662", "disease_id": "DOID:0070662", "recommended_name": "subcutaneous panniculitis-like T-cell lymphoma", "synonyms": [ { "id": "DOID:0070662", "name": "SPTCL" }, { "id": "MONDO:0019475", "name": "subcutaneous panniculitis-like T-cell lymphoma" }, { "id": "MONDO:0019475", "name": "SPTCL" }, { "id": "MONDO:0019475", "name": "subcutaneous panniculitic T-cell lymphoma" }, { "id": "MONDO:0019475", "name": "subcutaneous panniculitis-like T-cell lymphoma" }, { "id": "MONDO:0019475", "name": "subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)" }, { "id": "MONDO:0019475", "name": "subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type" }, { "id": "MIM:618398", "name": "T-cell lymphoma, subcutaneous panniculitis-like" } ], "record_url": "http://disease-ontology.org/term/DOID:0070662", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0070666", "disease_id": "DOID:0070666", "recommended_name": "infantile myofibromatosis 1", "synonyms": [ { "id": "MONDO:0009227", "name": "myofibromatosis, infantile, 1" }, { "id": "MONDO:0009227", "name": "PDGFRB myofibromatosis" }, { "id": "MONDO:0009227", "name": "myofibromatosis caused by mutation in PDGFRB" }, { "id": "MONDO:0009227", "name": "myofibromatosis, infantile, 1" }, { "id": "MONDO:0009227", "name": "myofibromatosis, infantile, type 1" }, { "id": "MONDO:0009227", "name": "IMF1" }, { "id": "MONDO:0009227", "name": "fibromatosis, congenital generalised" }, { "id": "MIM:228550", "name": "Myofibromatosis, infantile 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070666", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0070667", "disease_id": "DOID:0070667", "recommended_name": "infantile myofibromatosis 2", "synonyms": [ { "id": "MONDO:0014122", "name": "myofibromatosis, infantile, 2" }, { "id": "MONDO:0014122", "name": "NOTCH3 myofibromatosis" }, { "id": "MONDO:0014122", "name": "myofibromatosis caused by mutation in NOTCH3" }, { "id": "MONDO:0014122", "name": "myofibromatosis, infantile 2" }, { "id": "MONDO:0014122", "name": "myofibromatosis, infantile, 2" }, { "id": "MONDO:0014122", "name": "myofibromatosis, infantile, type 2" }, { "id": "MONDO:0014122", "name": "IMF2" }, { "id": "MIM:615293", "name": "Myofibromatosis, infantile 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0070667", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0070668", "disease_id": "DOID:0070668", "recommended_name": "Snijders Blok-Campeau syndrome", "synonyms": [ { "id": "DOID:0070668", "name": "SNIBCPS" }, { "id": "MONDO:0032600", "name": "Snijders Blok-Campeau syndrome" }, { "id": "MONDO:0032600", "name": "CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome" }, { "id": "MONDO:0032600", "name": "intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies" }, { "id": "MONDO:0032600", "name": "SNIBCPS" }, { "id": "MIM:618205", "name": "Snijders Blok-Campeau syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070668", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070669", "disease_id": "DOID:0070669", "recommended_name": "autosomal recessive nonsyndromic deafness 122", "synonyms": [ { "id": "DOID:0070669", "name": "DFNB122" }, { "id": "MONDO:0958228", "name": "hearing loss, autosomal recessive 122" }, { "id": "MONDO:0958228", "name": "deafness, autosomal recessive 122" }, { "id": "MIM:620714", "name": "Deafness, autosomal recessive, 122" } ], "record_url": "http://disease-ontology.org/term/DOID:0070669", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070670", "disease_id": "DOID:0070670", "recommended_name": "autosomal recessive nonsyndromic deafness 123", "synonyms": [ { "id": "DOID:0070670", "name": "DFNB123" }, { "id": "MONDO:0958277", "name": "hearing loss, autosomal recessive 123" }, { "id": "MONDO:0958277", "name": "deafness, autosomal recessive 123" }, { "id": "MIM:620745", "name": "Deafness, autosomal recessive, 123" } ], "record_url": "http://disease-ontology.org/term/DOID:0070670", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070671", "disease_id": "DOID:0070671", "recommended_name": "autosomal recessive nonsyndromic deafness 117", "synonyms": [ { "id": "DOID:0070671", "name": "DFNB117" }, { "id": "DOID:0070671", "name": "autosomal recessive deafness 117" }, { "id": "MONDO:0030905", "name": "hearing loss, autosomal recessive 117" }, { "id": "MONDO:0030905", "name": "DFNB117" }, { "id": "MONDO:0030905", "name": "deafness, autosomal recessive 117" }, { "id": "MIM:619174", "name": "Deafness, autosomal recessive, 117" } ], "record_url": "http://disease-ontology.org/term/DOID:0070671", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070672", "disease_id": "DOID:0070672", "recommended_name": "autosomal recessive nonsyndromic deafness 118", "synonyms": [ { "id": "DOID:0070672", "name": "DFNB118" }, { "id": "MONDO:0030449", "name": "hearing loss, autosomal recessive 118, with cochlear aplasia" }, { "id": "MONDO:0030449", "name": "DFNB118" }, { "id": "MONDO:0030449", "name": "deafness, autosomal recessive 118, with cochlear aplasia" }, { "id": "MIM:619553", "name": "Deafness, autosomal recessive, 118, with cochlear aplasia" } ], "record_url": "http://disease-ontology.org/term/DOID:0070672", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070673", "disease_id": "DOID:0070673", "recommended_name": "autosomal recessive nonsyndromic deafness 119", "synonyms": [ { "id": "DOID:0070673", "name": "DFNB119" }, { "id": "MONDO:0030480", "name": "hearing loss, autosomal recessive 119" }, { "id": "MONDO:0030480", "name": "DFNB119" }, { "id": "MONDO:0030480", "name": "deafness, autosomal recessive 119" }, { "id": "MIM:619615", "name": "Deafness, autosomal recessive, 119" } ], "record_url": "http://disease-ontology.org/term/DOID:0070673", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070674", "disease_id": "DOID:0070674", "recommended_name": "autosomal recessive nonsyndromic deafness 120", "synonyms": [ { "id": "DOID:0070674", "name": "DFNB120" }, { "id": "MONDO:0859374", "name": "hearing loss, autosomal recessive 120" }, { "id": "MONDO:0859374", "name": "deafness, autosomal recessive 120" }, { "id": "MIM:620238", "name": "Deafness, autosomal recessive, 120" } ], "record_url": "http://disease-ontology.org/term/DOID:0070674", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070675", "disease_id": "DOID:0070675", "recommended_name": "autosomal recessive nonsyndromic deafness 121", "synonyms": [ { "id": "DOID:0070675", "name": "DFNB121" }, { "id": "MONDO:0957825", "name": "hearing loss, autosomal recessive 121" }, { "id": "MONDO:0957825", "name": "deafness, autosomal recessive 121" }, { "id": "MIM:620551", "name": "Deafness, autosomal recessive, 121" } ], "record_url": "http://disease-ontology.org/term/DOID:0070675", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070676", "disease_id": "DOID:0070676", "recommended_name": "autosomal recessive nonsyndromic deafness 124", "synonyms": [ { "id": "DOID:0070676", "name": "DFNB124" }, { "id": "DOID:0070676", "name": "autosomal recessive deafness 124" }, { "id": "MONDO:0968981", "name": "autosomal recessive nonsyndromic hearing loss 124" }, { "id": "MONDO:0968981", "name": "deafness, autosomal recessive 124" }, { "id": "MIM:620794", "name": "Deafness, autosomal recessive, 124" } ], "record_url": "http://disease-ontology.org/term/DOID:0070676", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070677", "disease_id": "DOID:0070677", "recommended_name": "Ferguson-Bonni neurodevelopmental syndrome", "synonyms": [ { "id": "MONDO:0859220", "name": "Ferguson-Bonni neurodevelopmental syndrome" }, { "id": "MIM:619699", "name": "Ferguson-Bonni neurodevelopmental syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070677", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070678", "disease_id": "DOID:0070678", "recommended_name": "congenital hypomyelinating neuropathy", "synonyms": [ { "id": "DOID:0070678", "name": "CHN" }, { "id": "DOID:0070678", "name": "congenital hypomyelination neuropathy" }, { "id": "MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E" }, { "id": "MONDO:0011527", "name": "CMT4E" }, { "id": "MONDO:0011527", "name": "Charcot-Marie-Tooth disease type 4E" }, { "id": "MONDO:0011527", "name": "Neuropathy, Congenital Hypomyelination" }, { "id": "MONDO:0011527", "name": "autosomal recessive congenital hypomyelinating neuropathy" }, { "id": "MONDO:0011527", "name": "hypomyelinating neuropathy, congenital, 1" }, { "id": "MONDO:0011527", "name": "CHN" }, { "id": "MONDO:0011527", "name": "CHN1" }, { "id": "MONDO:0011527", "name": "CMT 4E" }, { "id": "MONDO:0011527", "name": "Charcot Marie Tooth disease type 4E" }, { "id": "MONDO:0011527", "name": "congenital hypomyelinating neuropathy (CHN)" }, { "id": "MONDO:0011527", "name": "congenital hypomyelination neuropathy" }, { "id": "MONDO:0011527", "name": "neuropathy, congenital hypomyelinating" }, { "id": "MONDO:0011527", "name": "neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive" }, { "id": "MIM:605253", "name": "Neuropathy, congenital hypomyelinating, 1, autosomal recessive" } ], "record_url": "http://disease-ontology.org/term/DOID:0070678", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070679", "disease_id": "DOID:0070679", "recommended_name": "congenital hypomyelinating neuropathy 2", "synonyms": [ { "id": "DOID:0070679", "name": "CHN2" }, { "id": "MONDO:0020765", "name": "neuropathy, congenital hypomyelinating, 2" }, { "id": "MONDO:0020765", "name": "CHN2" }, { "id": "MONDO:0020765", "name": "NEUROPATHY, CONGENITAL HYPOMYELINATING, 2" }, { "id": "MONDO:0020765", "name": "hypomyelinating neuropathy, congenital, 2" }, { "id": "MIM:618184", "name": "Neuropathy, congenital hypomyelinating, 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0070679", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070680", "disease_id": "DOID:0070680", "recommended_name": "congenital hypomyelinating neuropathy 3", "synonyms": [ { "id": "DOID:0070680", "name": "CHN3" }, { "id": "MONDO:0020766", "name": "neuropathy, congenital hypomyelinating, 3" }, { "id": "MONDO:0020766", "name": "CHN3" }, { "id": "MONDO:0020766", "name": "NEUROPATHY, CONGENITAL HYPOMYELINATING, 3" }, { "id": "MONDO:0020766", "name": "hypomyelinating neuropathy, congenital, 3" }, { "id": "MIM:618186", "name": "Neuropathy, congenital hypomyelinating, 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0070680", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070681", "disease_id": "DOID:0070681", "recommended_name": "congenital hydrocephalus", "synonyms": [ { "id": "MONDO:0009360", "name": "hydrocephalus, nonsyndromic, autosomal recessive 1" }, { "id": "MONDO:0009360", "name": "CCDC88C congenital hydrocephalus" }, { "id": "MONDO:0009360", "name": "congenital hydrocephalus caused by mutation in CCDC88C" }, { "id": "MONDO:0009360", "name": "hydrocephalus, congenital, 1" }, { "id": "MONDO:0009360", "name": "hydrocephalus, nonsyndromic, autosomal recessive 1" }, { "id": "MONDO:0009360", "name": "hydrocephalus, nonsyndromic, autosomal recessive type 1" }, { "id": "MONDO:0009360", "name": "HYC1" }, { "id": "MIM:236600", "name": "Hydrocephalus, congenital, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070681", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070682", "disease_id": "DOID:0070682", "recommended_name": "congenital hydrocephalus 1", "synonyms": [ { "id": "MONDO:0009360", "name": "hydrocephalus, nonsyndromic, autosomal recessive 1" }, { "id": "MONDO:0009360", "name": "CCDC88C congenital hydrocephalus" }, { "id": "MONDO:0009360", "name": "congenital hydrocephalus caused by mutation in CCDC88C" }, { "id": "MONDO:0009360", "name": "hydrocephalus, congenital, 1" }, { "id": "MONDO:0009360", "name": "hydrocephalus, nonsyndromic, autosomal recessive 1" }, { "id": "MONDO:0009360", "name": "hydrocephalus, nonsyndromic, autosomal recessive type 1" }, { "id": "MONDO:0009360", "name": "HYC1" }, { "id": "MIM:236600", "name": "Hydrocephalus, congenital, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070682", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070683", "disease_id": "DOID:0070683", "recommended_name": "congenital hydrocephalus 2", "synonyms": [ { "id": "MONDO:0014085", "name": "hydrocephalus, nonsyndromic, autosomal recessive 2" }, { "id": "MONDO:0014085", "name": "MPDZ congenital hydrocephalus" }, { "id": "MONDO:0014085", "name": "congenital hydrocephalus caused by mutation in MPDZ" }, { "id": "MONDO:0014085", "name": "hydrocephalus, congenital, 2, with or without brain or eye anomalies" }, { "id": "MONDO:0014085", "name": "hydrocephalus, nonsyndromic, autosomal recessive 2" }, { "id": "MONDO:0014085", "name": "hydrocephalus, nonsyndromic, autosomal recessive type 2" }, { "id": "MONDO:0014085", "name": "HYC2" }, { "id": "MIM:615219", "name": "Hydrocephalus, congenital, 2, with or without brain or eye anomalies" } ], "record_url": "http://disease-ontology.org/term/DOID:0070683", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070684", "disease_id": "DOID:0070684", "recommended_name": "congenital hydrocephalus 3", "synonyms": [ { "id": "MONDO:0054794", "name": "hydrocephalus, congenital, 3, with brain anomalies" }, { "id": "MONDO:0054794", "name": "HYC3" }, { "id": "MONDO:0054794", "name": "hydrocephalus, nonsyndromic, autosomal recessive 3" }, { "id": "MIM:617967", "name": "Hydrocephalus, congenital, 3, with brain anomalies" } ], "record_url": "http://disease-ontology.org/term/DOID:0070684", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070685", "disease_id": "DOID:0070685", "recommended_name": "congenital hydrocephalus 4", "synonyms": [ { "id": "MONDO:0032862", "name": "hydrocephalus, congenital communicating, 1" }, { "id": "MONDO:0032862", "name": "HYDCC1" }, { "id": "MIM:618667", "name": "Hydrocephalus, congenital, 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0070685", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070686", "disease_id": "DOID:0070686", "recommended_name": "X-linked congenital hydrocephalus", "synonyms": [ { "id": "DOID:0070686", "name": "X-linked hydrocephalus" }, { "id": "MONDO:0010611", "name": "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius" }, { "id": "MONDO:0010611", "name": "Bickers-Adams syndrome" }, { "id": "MONDO:0010611", "name": "HSAS" }, { "id": "MONDO:0010611", "name": "X-linked HSAS" }, { "id": "MONDO:0010611", "name": "X-linked acqueductal stenosis" }, { "id": "MONDO:0010611", "name": "X-linked hydrocephalus" }, { "id": "MONDO:0010611", "name": "X-linked hydrocephalus with stenosis of aqueduct of Sylvius" }, { "id": "MONDO:0010611", "name": "X-linked hydrocephalus with stenosis of the aqueduct of Sylvius" }, { "id": "MONDO:0010611", "name": "hydrocephalus due to aqueductal stenosis, X-linked recessive" }, { "id": "MONDO:0010611", "name": "hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive" }, { "id": "MONDO:0010611", "name": "hydrocephalus with hirschsprung disease, X-linked recessive" }, { "id": "MONDO:0010611", "name": "hydrocephalus with stenosis of the aqueduct of Sylvius" }, { "id": "MONDO:0010611", "name": "HSAS1" }, { "id": "MONDO:0010611", "name": "HYCX" }, { "id": "MONDO:0010611", "name": "XLAS" }, { "id": "MONDO:0010611", "name": "hydrocephalus due to congenital stenosis of aqueduct of Sylvius" }, { "id": "MIM:307000", "name": "Hydrocephalus, congenital, X-linked" } ], "record_url": "http://disease-ontology.org/term/DOID:0070686", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070687", "disease_id": "DOID:0070687", "recommended_name": "normal pressure hydrocephalus 1", "synonyms": [ { "id": "MONDO:0009366", "name": "normal pressure hydrocephalus" }, { "id": "MONDO:0009366", "name": "NPH" }, { "id": "MONDO:0009366", "name": "chronic adult hydrocephalus" }, { "id": "MONDO:0009366", "name": "hydrocephalus, normal pressure, 1" }, { "id": "MIM:236690", "name": "Hydrocephalus, normal pressure, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070687", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070688", "disease_id": "DOID:0070688", "recommended_name": "autosomal recessive congenital indifference to pain", "synonyms": [ { "id": "DOID:0070688", "name": "channelopathy-associated insensitivity to pain" }, { "id": "MONDO:0009459", "name": "channelopathy-associated congenital insensitivity to pain, autosomal recessive" }, { "id": "MONDO:0009459", "name": "channelopathy-associated CIP" }, { "id": "MONDO:0009459", "name": "insensitivity to pain, congenital" }, { "id": "MONDO:0009459", "name": "neuropathy, hereditary sensory and autonomic, type IID" }, { "id": "MONDO:0009459", "name": "CIP" }, { "id": "MONDO:0009459", "name": "HSAN2D" }, { "id": "MONDO:0009459", "name": "indifference to pain, congenital, autosomal recessive" }, { "id": "MIM:243000", "name": "Indifference to pain, congenital, autosomal recessive" } ], "record_url": "http://disease-ontology.org/term/DOID:0070688", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070694", "disease_id": "DOID:0070694", "recommended_name": "neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities", "synonyms": [ { "id": "DOID:0070694", "name": "NEDCRO" }, { "id": "MONDO:0980965", "name": "neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities" } ], "record_url": "http://disease-ontology.org/term/DOID:0070694", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070696", "disease_id": "DOID:0070696", "recommended_name": "neurodevelopmental disorder with seizures, hypotonia, and variable spasticity", "synonyms": [ { "id": "DOID:0070696", "name": "NEDSHS" }, { "id": "MONDO:0980968", "name": "neurodevelopmental disorder with seizures, hypotonia, and variable spasticity" } ], "record_url": "http://disease-ontology.org/term/DOID:0070696", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070697", "disease_id": "DOID:0070697", "recommended_name": "neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter", "synonyms": [ { "id": "DOID:0070697", "name": "NEDSCW" }, { "id": "MONDO:0980947", "name": "neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter" } ], "record_url": "http://disease-ontology.org/term/DOID:0070697", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070703", "disease_id": "DOID:0070703", "recommended_name": "Meckel syndrome 14", "synonyms": [ { "id": "DOID:0070703", "name": "MKS14" }, { "id": "MONDO:0030819", "name": "meckel syndrome 14" }, { "id": "MONDO:0030819", "name": "MKS14" }, { "id": "MONDO:0030819", "name": "meckel syndrome 14" }, { "id": "MIM:619879", "name": "Meckel syndrome 14" } ], "record_url": "http://disease-ontology.org/term/DOID:0070703", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070704", "disease_id": "DOID:0070704", "recommended_name": "dentin dysplasia type IA", "synonyms": [ { "id": "DOID:0070704", "name": "atypical dentin dysplasia due to SMOC2 deficiency" }, { "id": "MONDO:0017819", "name": "atypical dentin dysplasia due to SMOC2 deficiency" }, { "id": "MONDO:0017819", "name": "dentin dysplasia type 1 with microdontia and shape anomalies" }, { "id": "MONDO:0017819", "name": "dentin dysplasia, type IA" }, { "id": "MIM:125400", "name": "Dentin dysplasia 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0070704", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070705", "disease_id": "DOID:0070705", "recommended_name": "dentin dysplasia type IB", "synonyms": [ { "id": "MONDO:0700387", "name": "dentin dysplasia, type IB" } ], "record_url": "http://disease-ontology.org/term/DOID:0070705", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070707", "disease_id": "DOID:0070707", "recommended_name": "dentin dysplasia type II", "synonyms": [ { "id": "DOID:0070707", "name": "DD-II" }, { "id": "DOID:0070707", "name": "coronal dentin dysplasia" }, { "id": "MONDO:0007437", "name": "dentin dysplasia type II" }, { "id": "MONDO:0007437", "name": "DD-II" }, { "id": "MONDO:0007437", "name": "DTDP2" }, { "id": "MONDO:0007437", "name": "dentin dyspalsia, Shields type 2" }, { "id": "MONDO:0007437", "name": "dentin dysplasia, coronal" }, { "id": "MIM:125420", "name": "Dentin dysplasia 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0070707", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070709", "disease_id": "DOID:0070709", "recommended_name": "Popov-Chang syndrome", "synonyms": [ { "id": "MONDO:0979865", "name": "Popov-Chang syndrome" }, { "id": "MIM:618428", "name": "Popov-Chang syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070709", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070710", "disease_id": "DOID:0070710", "recommended_name": "neurodevelopmental disorder with speech delay and behavioral abnormalities", "synonyms": [ { "id": "DOID:0070710", "name": "NEDSBH" }, { "id": "MONDO:0980700", "name": "neurodevelopmental disorder with speech delay and behavioral abnormalities" } ], "record_url": "http://disease-ontology.org/term/DOID:0070710", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070711", "disease_id": "DOID:0070711", "recommended_name": "Harel-Tora neurodevelopmental syndrome", "synonyms": [ { "id": "MONDO:0980703", "name": "Harel-Tora neurodevelopmental syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070711", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070712", "disease_id": "DOID:0070712", "recommended_name": "developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies", "synonyms": [ { "id": "DOID:0070712", "name": "DEDCRF" }, { "id": "MONDO:0980727", "name": "developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies" } ], "record_url": "http://disease-ontology.org/term/DOID:0070712", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070713", "disease_id": "DOID:0070713", "recommended_name": "neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities", "synonyms": [ { "id": "DOID:0070713", "name": "NEDSZFB" }, { "id": "MONDO:0980709", "name": "neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities" } ], "record_url": "http://disease-ontology.org/term/DOID:0070713", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070714", "disease_id": "DOID:0070714", "recommended_name": "neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities", "synonyms": [ { "id": "DOID:0070714", "name": "NEDBAC" }, { "id": "MONDO:0980710", "name": "neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities" } ], "record_url": "http://disease-ontology.org/term/DOID:0070714", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070715", "disease_id": "DOID:0070715", "recommended_name": "Ramond-Elliott neurodevelopmental syndrome", "synonyms": [ { "id": "MONDO:0980751", "name": "Ramond-Elliott neurodevelopmental syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070715", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070716", "disease_id": "DOID:0070716", "recommended_name": "progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia", "synonyms": [ { "id": "DOID:0070716", "name": "MGCH" }, { "id": "MONDO:0980935", "name": "microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia" } ], "record_url": "http://disease-ontology.org/term/DOID:0070716", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070717", "disease_id": "DOID:0070717", "recommended_name": "developmental delay with sleep apnea", "synonyms": [ { "id": "DOID:0070717", "name": "DDSA" }, { "id": "MONDO:0980728", "name": "developmental delay with sleep apnea" } ], "record_url": "http://disease-ontology.org/term/DOID:0070717", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070718", "disease_id": "DOID:0070718", "recommended_name": "neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia", "synonyms": [ { "id": "DOID:0070718", "name": "NEDBSPG" }, { "id": "MONDO:0980706", "name": "neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia" } ], "record_url": "http://disease-ontology.org/term/DOID:0070718", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070719", "disease_id": "DOID:0070719", "recommended_name": "neurocardiorenal malformation syndrome", "synonyms": [ { "id": "MONDO:0980704", "name": "neurocardiorenal malformation syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070719", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070720", "disease_id": "DOID:0070720", "recommended_name": "immune dysregulation, neurodevelopmental defects, and colitis", "synonyms": [ { "id": "DOID:0070720", "name": "IDNDC" }, { "id": "MONDO:0980702", "name": "immune dysregulation, neurodevelopmental defects, and colitis" } ], "record_url": "http://disease-ontology.org/term/DOID:0070720", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070721", "disease_id": "DOID:0070721", "recommended_name": "Valence-Farazi cerebellar ataxia syndrome", "synonyms": [ { "id": "DOID:0070721", "name": "VAFCAS" }, { "id": "MONDO:0980707", "name": "Valence-Farazi cerebellar ataxia syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070721", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070722", "disease_id": "DOID:0070722", "recommended_name": "adult-onset leukoencephalopathy without lacunae", "synonyms": [ { "id": "DOID:0070722", "name": "LUCAO" }, { "id": "MONDO:0980752", "name": "leukoencephalopathy without lacunae, adult-onset" } ], "record_url": "http://disease-ontology.org/term/DOID:0070722", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070723", "disease_id": "DOID:0070723", "recommended_name": "dyschromatosis, ichthyosis, deafness, and atopic disease", "synonyms": [ { "id": "DOID:0070723", "name": "DIDA" }, { "id": "MONDO:0980712", "name": "dyschromatosis, ichthyosis, deafness, and atopic disease" } ], "record_url": "http://disease-ontology.org/term/DOID:0070723", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070724", "disease_id": "DOID:0070724", "recommended_name": "dental radicular dysplasia", "synonyms": [ { "id": "DOID:0070724", "name": "DNRD" }, { "id": "MONDO:0980763", "name": "dental radicular dysplasia" } ], "record_url": "http://disease-ontology.org/term/DOID:0070724", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070725", "disease_id": "DOID:0070725", "recommended_name": "spermatogenic failure 96", "synonyms": [ { "id": "DOID:0070725", "name": "SPGF96" }, { "id": "MONDO:0975842", "name": "spermatogenic failure 96" }, { "id": "MIM:621001", "name": "Spermatogenic failure 96" } ], "record_url": "http://disease-ontology.org/term/DOID:0070725", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070726", "disease_id": "DOID:0070726", "recommended_name": "spermatogenic failure 97", "synonyms": [ { "id": "DOID:0070726", "name": "SPGF97" }, { "id": "MONDO:0975958", "name": "spermatogenic failure 97" }, { "id": "MIM:621057", "name": "Spermatogenic failure 97" } ], "record_url": "http://disease-ontology.org/term/DOID:0070726", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070727", "disease_id": "DOID:0070727", "recommended_name": "spermatogenic failure 98", "synonyms": [ { "id": "DOID:0070727", "name": "SPGF98" }, { "id": "MONDO:0700290", "name": "spermatogenic failure 98" }, { "id": "MIM:621124", "name": "Spermatogenic failure 98" } ], "record_url": "http://disease-ontology.org/term/DOID:0070727", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070728", "disease_id": "DOID:0070728", "recommended_name": "spermatogenic failure 99", "synonyms": [ { "id": "DOID:0070728", "name": "SPGF99" }, { "id": "MONDO:0978297", "name": "spermatogenic failure 99" }, { "id": "MIM:621194", "name": "Spermatogenic failure 99" } ], "record_url": "http://disease-ontology.org/term/DOID:0070728", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070729", "disease_id": "DOID:0070729", "recommended_name": "spermatogenic failure 100", "synonyms": [ { "id": "DOID:0070729", "name": "SPGF100" }, { "id": "MONDO:0978302", "name": "spermatogenic failure 100" }, { "id": "MIM:621209", "name": "Spermatogenic failure 100" } ], "record_url": "http://disease-ontology.org/term/DOID:0070729", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070731", "disease_id": "DOID:0070731", "recommended_name": "spermatogenic failure 102", "synonyms": [ { "id": "DOID:0070731", "name": "SPGF102" }, { "id": "MONDO:0980708", "name": "spermatogenic failure 102" } ], "record_url": "http://disease-ontology.org/term/DOID:0070731", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070733", "disease_id": "DOID:0070733", "recommended_name": "multiple mitochondrial dysfunctions syndrome 7", "synonyms": [ { "id": "DOID:0070733", "name": "MMDS7" }, { "id": "MONDO:0957382", "name": "multiple mitochondrial dysfunctions syndrome 7" }, { "id": "MONDO:0957382", "name": "GCSH-related glycine encephalopathy" }, { "id": "MIM:620423", "name": "Multiple mitochondrial dysfunctions syndrome 7" } ], "record_url": "http://disease-ontology.org/term/DOID:0070733", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070734", "disease_id": "DOID:0070734", "recommended_name": "episodic mitochondrial myopathy with optic atrophy and reversible leukoencephalopathy", "synonyms": [ { "id": "DOID:0070734", "name": "MEOAL" }, { "id": "DOID:0070734", "name": "MMDS8" }, { "id": "DOID:0070734", "name": "multiple mitochondrial dysfunctions syndrome 8" }, { "id": "MONDO:0020714", "name": "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy" }, { "id": "MIM:251900", "name": "Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy" } ], "record_url": "http://disease-ontology.org/term/DOID:0070734", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070735", "disease_id": "DOID:0070735", "recommended_name": "auditory neuropathy and optic atrophy", "synonyms": [ { "id": "DOID:0070735", "name": "MMDS9A" }, { "id": "DOID:0070735", "name": "multiple mitochondrial dysfunctions syndrome 9A" }, { "id": "MONDO:0060582", "name": "auditory neuropathy-optic atrophy syndrome" }, { "id": "MONDO:0060582", "name": "ANOA" }, { "id": "MONDO:0060582", "name": "auditory neuropathy and optic atrophy" }, { "id": "MONDO:0060582", "name": "multiple mitochondrial dysfunctions syndrome 9A" }, { "id": "MIM:617717", "name": "Auditory neuropathy and optic atrophy" } ], "record_url": "http://disease-ontology.org/term/DOID:0070735", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070736", "disease_id": "DOID:0070736", "recommended_name": "multiple mitochondrial dysfunctions syndrome 9B", "synonyms": [ { "id": "DOID:0070736", "name": "MMDS9B" }, { "id": "MONDO:0971174", "name": "multiple mitochondrial dysfunctions syndrome 9b" }, { "id": "MIM:620887", "name": "Multiple mitochondrial dysfunctions syndrome 9B" } ], "record_url": "http://disease-ontology.org/term/DOID:0070736", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070737", "disease_id": "DOID:0070737", "recommended_name": "multiple mitochondrial dysfunctions syndrome 10", "synonyms": [ { "id": "DOID:0070737", "name": "MMDS10" }, { "id": "MONDO:0975806", "name": "multiple mitochondrial dysfunctions syndrome 10" }, { "id": "MIM:620960", "name": "Multiple mitochondrial dysfunctions syndrome 10" } ], "record_url": "http://disease-ontology.org/term/DOID:0070737", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070738", "disease_id": "DOID:0070738", "recommended_name": "Al Kaissi syndrome", "synonyms": [ { "id": "MONDO:0044324", "name": "Al Kaissi syndrome" }, { "id": "MONDO:0044324", "name": "ALKAS" }, { "id": "MIM:617694", "name": "Al Kaissi syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070738", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070739", "disease_id": "DOID:0070739", "recommended_name": "autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures", "synonyms": [ { "id": "DOID:0070739", "name": "NDHMSR" }, { "id": "MONDO:0060629", "name": "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive" }, { "id": "MONDO:0060629", "name": "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive" }, { "id": "MONDO:0060629", "name": "NDHMSR" }, { "id": "MIM:617820", "name": "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive" } ], "record_url": "http://disease-ontology.org/term/DOID:0070739", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070740", "disease_id": "DOID:0070740", "recommended_name": "cerebellar atrophy, developmental delay, and seizures", "synonyms": [ { "id": "DOID:0070740", "name": "CADEDS" }, { "id": "MONDO:0060551", "name": "cerebellar atrophy, developmental delay, and seizures" }, { "id": "MONDO:0060551", "name": "cerebellar atrophy, developmental delay, and seizures" }, { "id": "MONDO:0060551", "name": "CADEDS" }, { "id": "MIM:617643", "name": "Cerebellar atrophy, developmental delay, and seizures" } ], "record_url": "http://disease-ontology.org/term/DOID:0070740", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070741", "disease_id": "DOID:0070741", "recommended_name": "cerebellar atrophy with seizures and variable developmental delay", "synonyms": [ { "id": "DOID:0070741", "name": "CASVDD" }, { "id": "MONDO:0032788", "name": "cerebellar atrophy with seizures and variable developmental delay" }, { "id": "MONDO:0032788", "name": "CASVDD" }, { "id": "MIM:618501", "name": "Cerebellar atrophy with seizures and variable developmental delay" } ], "record_url": "http://disease-ontology.org/term/DOID:0070741", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070742", "disease_id": "DOID:0070742", "recommended_name": "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia", "synonyms": [ { "id": "DOID:0070742", "name": "methylenetetrahydrofolate dehydrogenase 1 deficiency" }, { "id": "DOID:0070742", "name": "CIMAH" }, { "id": "DOID:0070742", "name": "MTHFD1 deficiency" }, { "id": "MONDO:0060611", "name": "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" }, { "id": "MONDO:0060611", "name": "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" }, { "id": "MONDO:0060611", "name": "CIMAH" }, { "id": "MIM:617780", "name": "Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" } ], "record_url": "http://disease-ontology.org/term/DOID:0070742", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070743", "disease_id": "DOID:0070743", "recommended_name": "congenital facial palsy with ptosis and velopharyngeal dysfunction", "synonyms": [ { "id": "DOID:0070743", "name": "FPVEPD" }, { "id": "MONDO:0060589", "name": "facial palsy, congenital, with ptosis and velopharyngeal dysfunction" }, { "id": "MONDO:0060589", "name": "facial palsy, congenital, with ptosis and velopharyngeal dysfunction" }, { "id": "MONDO:0060589", "name": "facial palsy, congenitla, with ptosis and velopharyngeal dysfunction" }, { "id": "MONDO:0060589", "name": "FPVEPD" }, { "id": "MIM:617732", "name": "Facial palsy, congenital, with ptosis and velopharyngeal dysfunction" } ], "record_url": "http://disease-ontology.org/term/DOID:0070743", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070744", "disease_id": "DOID:0070744", "recommended_name": "early childhood-onset progressive leukodystrophy", "synonyms": [ { "id": "DOID:0070744", "name": "PLDECO" }, { "id": "DOID:0070744", "name": "alkaline ceramidase 3 deficiency" }, { "id": "MONDO:0044718", "name": "alkaline ceramidase 3 deficiency" }, { "id": "MONDO:0044718", "name": "ACER3-related early childhood-onset progressive leukodystrophy" }, { "id": "MONDO:0044718", "name": "leukodystrophy due to alkaline ceramidase 3 deficiency" }, { "id": "MONDO:0044718", "name": "PLDECO" }, { "id": "MIM:617762", "name": "Leukodystrophy, progressive, early childhood-onset" } ], "record_url": "http://disease-ontology.org/term/DOID:0070744", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070745", "disease_id": "DOID:0070745", "recommended_name": "early-onset progressive encephalopathy with brain atrophy and spasticity", "synonyms": [ { "id": "DOID:0070745", "name": "PEBAS" }, { "id": "MONDO:0044696", "name": "early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome" }, { "id": "MONDO:0044696", "name": "PEBAS" }, { "id": "MIM:617669", "name": "Encephalopathy, progressive, early-onset, with brain atrophy and spasticity" } ], "record_url": "http://disease-ontology.org/term/DOID:0070745", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070746", "disease_id": "DOID:0070746", "recommended_name": "HELIX syndrome", "synonyms": [ { "id": "DOID:0070746", "name": "hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia" }, { "id": "MONDO:0060564", "name": "HELIX syndrome" }, { "id": "MONDO:0060564", "name": "HELIX" }, { "id": "MONDO:0060564", "name": "HELIX syndrome" }, { "id": "MONDO:0060564", "name": "hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome" }, { "id": "MIM:617671", "name": "HELIX syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070746", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070747", "disease_id": "DOID:0070747", "recommended_name": "immunodeficiency, developmental delay, and hypohomocysteinemia", "synonyms": [ { "id": "DOID:0070747", "name": "IMDDHH" }, { "id": "MONDO:0060591", "name": "immunodeficiency, developmental delay, and hypohomocysteinemia" }, { "id": "MONDO:0060591", "name": "immunodeficiency, developmental delay, and hypohomocysteinemia" }, { "id": "MONDO:0060591", "name": "IMDDHH" }, { "id": "MIM:617744", "name": "Immunodeficiency, developmental delay, and hypohomocysteinemia" } ], "record_url": "http://disease-ontology.org/term/DOID:0070747", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070748", "disease_id": "DOID:0070748", "recommended_name": "joint laxity, short stature, and myopia", "synonyms": [ { "id": "DOID:0070748", "name": "JLSM" }, { "id": "MONDO:0060556", "name": "joint laxity, short stature, and myopia" }, { "id": "MONDO:0060556", "name": "joint laxity, short stature, and myopia" }, { "id": "MONDO:0060556", "name": "JLSM" }, { "id": "MIM:617662", "name": "Joint laxity, short stature, and myopia" } ], "record_url": "http://disease-ontology.org/term/DOID:0070748", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070750", "disease_id": "DOID:0070750", "recommended_name": "mitochondrial myopathy and ataxia", "synonyms": [ { "id": "MONDO:0044714", "name": "mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome" }, { "id": "MONDO:0044714", "name": "mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome" }, { "id": "MONDO:0044714", "name": "MMYAT" }, { "id": "MIM:617675", "name": "Myopathy, mitochondrial, and ataxia" } ], "record_url": "http://disease-ontology.org/term/DOID:0070750", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070751", "disease_id": "DOID:0070751", "recommended_name": "mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures", "synonyms": [ { "id": "DOID:0070751", "name": "NEMMLAS" }, { "id": "MONDO:0060578", "name": "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures" }, { "id": "MONDO:0060578", "name": "WARS2 deficiency" }, { "id": "MONDO:0060578", "name": "WARS2-related disorder" }, { "id": "MONDO:0060578", "name": "mitochondrial tryptophanyl-tRNA synthetase deficiency" }, { "id": "MONDO:0060578", "name": "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures" }, { "id": "MONDO:0060578", "name": "NEMMLAS" }, { "id": "MIM:617710", "name": "Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures" } ], "record_url": "http://disease-ontology.org/term/DOID:0070751", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070752", "disease_id": "DOID:0070752", "recommended_name": "neonatal severe encephalopathy with lactic acidosis and brain abnormalities", "synonyms": [ { "id": "DOID:0070752", "name": "NELABA" }, { "id": "DOID:0070752", "name": "lipoyl transferase 2 deficiency" }, { "id": "DOID:0070752", "name": "lipoyltransferase 2 deficiency" }, { "id": "MONDO:0060562", "name": "encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities" }, { "id": "MONDO:0060562", "name": "encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities" }, { "id": "MONDO:0060562", "name": "NELABA" }, { "id": "MIM:617668", "name": "Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities" } ], "record_url": "http://disease-ontology.org/term/DOID:0070752", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070753", "disease_id": "DOID:0070753", "recommended_name": "neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter", "synonyms": [ { "id": "DOID:0070753", "name": "NDAGSCW" }, { "id": "MONDO:0060624", "name": "neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter" }, { "id": "MONDO:0060624", "name": "NDAGSCW" }, { "id": "MIM:617807", "name": "Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter" } ], "record_url": "http://disease-ontology.org/term/DOID:0070753", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070754", "disease_id": "DOID:0070754", "recommended_name": "neurodevelopmental disorder with microcephaly, ataxia, and seizures", "synonyms": [ { "id": "DOID:0070754", "name": "NEDMAS" }, { "id": "MONDO:0060577", "name": "neurodevelopmental disorder with microcephaly, ataxia, and seizures" }, { "id": "MONDO:0060577", "name": "neurodevelopmental disorder with microcephaly, ataxia, and seizures" }, { "id": "MONDO:0060577", "name": "NEDMAS" }, { "id": "MIM:617709", "name": "Neurodevelopmental disorder with microcephaly, ataxia, and seizures" } ], "record_url": "http://disease-ontology.org/term/DOID:0070754", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070755", "disease_id": "DOID:0070755", "recommended_name": "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy", "synonyms": [ { "id": "DOID:0070755", "name": "NDMSCA" }, { "id": "MONDO:0060621", "name": "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" }, { "id": "MONDO:0060621", "name": "neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" }, { "id": "MONDO:0060621", "name": "NDMSCA" }, { "id": "MIM:617802", "name": "Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" } ], "record_url": "http://disease-ontology.org/term/DOID:0070755", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070756", "disease_id": "DOID:0070756", "recommended_name": "neurodevelopmental disorder with variable motor and speech impairment", "synonyms": [ { "id": "DOID:0070756", "name": "NEDMIAL" }, { "id": "MONDO:0060622", "name": "neurodevelopmental disorder with severe motor impairment and absent language" }, { "id": "MONDO:0060622", "name": "DHX30-related complex neurodevelopmental disorder" }, { "id": "MONDO:0060622", "name": "neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome" }, { "id": "MONDO:0060622", "name": "neurodevelopmental disorder with severe motor impairment and absent language" }, { "id": "MONDO:0060622", "name": "NEDMIAL" }, { "id": "MIM:617804", "name": "Neurodevelopmental disorder with variable motor and language impairment" } ], "record_url": "http://disease-ontology.org/term/DOID:0070756", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070757", "disease_id": "DOID:0070757", "recommended_name": "Pilarowski-Bjornsson syndrome", "synonyms": [ { "id": "MONDO:0060568", "name": "Pilarowski-Bjornsson syndrome" }, { "id": "MONDO:0060568", "name": "Pilarowski-Bjornsson syndrome" }, { "id": "MONDO:0060568", "name": "PILBOS" }, { "id": "MIM:617682", "name": "Pilarowski-Bjornsson syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0070757", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0070759", "disease_id": "DOID:0070759", "recommended_name": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6", "synonyms": [ { "id": "DOID:0070759", "name": "PEOB6" }, { "id": "MONDO:0957993", "name": "progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6" }, { "id": "MIM:620647", "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6" } ], "record_url": "http://disease-ontology.org/term/DOID:0070759", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0080000", "disease_id": "DOID:0080000", "recommended_name": "muscular disease", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080000", "snv_count": 0, "protein_count": 80, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 8.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080001", "disease_id": "DOID:0080001", "recommended_name": "bone disease", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080001", "snv_count": 0, "protein_count": 48, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 4.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080005", "disease_id": "DOID:0080005", "recommended_name": "bone remodeling disease", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080005", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Yeast;Rat;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101010" }, { "record_id": "doid.0080006", "disease_id": "DOID:0080006", "recommended_name": "bone development disease", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080006", "snv_count": 0, "protein_count": 34, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 3.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080010", "disease_id": "DOID:0080010", "recommended_name": "bone structure disease", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080010", "snv_count": 0, "protein_count": 11, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.2, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080015", "disease_id": "DOID:0080015", "recommended_name": "physical disorder", "synonyms": [ { "id": "DOID:0080015", "name": "congenital disorder" } ], "record_url": "http://disease-ontology.org/term/DOID:0080015", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080016", "disease_id": "DOID:0080016", "recommended_name": "spina bifida", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080016", "snv_count": 0, "protein_count": 61, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 6.2, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080019", "disease_id": "DOID:0080019", "recommended_name": "metaphyseal dysplasia", "synonyms": [ { "id": "DOID:0080019", "name": "Bakwin-Krida syndrome" }, { "id": "DOID:0080019", "name": "Pyle's disease" }, { "id": "DOID:0080019", "name": "Pyle-Cohn syndrome" }, { "id": "MONDO:0008971", "name": "chondrodysplasia calcificans Metaphysealis" }, { "id": "MONDO:0008971", "name": "chondrodysplasia calcificans Metaphysealis" }, { "id": "MONDO:0009943", "name": "Pyle disease" }, { "id": "MONDO:0009943", "name": "metaphyseal dysplasia" }, { "id": "MONDO:0009943", "name": "Bakwin-Krida syndrome" }, { "id": "MONDO:0009943", "name": "Pyle disease" }, { "id": "MONDO:0009943", "name": "Pyle's disease" }, { "id": "MONDO:0009943", "name": "Pyle's syndrome" }, { "id": "MONDO:0009943", "name": "Pyle-Cohn syndrome" }, { "id": "MONDO:0009943", "name": "chondrodysplasia calcificans metaphysealis" }, { "id": "MONDO:0009943", "name": "metaphyseal dysplasia, Pyle type" }, { "id": "MONDO:0009943", "name": "metaphyseal dysplasia Pyle type" }, { "id": "MIM:265900", "name": "Pyle disease" } ], "record_url": "http://disease-ontology.org/term/DOID:0080019", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080020", "disease_id": "DOID:0080020", "recommended_name": "Jansen's metaphyseal chondrodysplasia", "synonyms": [ { "id": "DOID:0080020", "name": "Jansen Disease" }, { "id": "DOID:0080020", "name": "Jansen Metaphyseal Dysostosis" }, { "id": "DOID:0080020", "name": "Jansen metaphyseal chondrodysplasia" }, { "id": "DOID:0080020", "name": "Murk Jansen Type Metaphyseal Chondrodysplasia" }, { "id": "MONDO:0007982", "name": "metaphyseal chondrodysplasia, Jansen type" }, { "id": "MONDO:0007982", "name": "Jansen Type Metaphyseal Chondrodysplasia" }, { "id": "MONDO:0007982", "name": "Jansen type metaphyseal chondrodysplasia" }, { "id": "MONDO:0007982", "name": "metaphyseal chondrodysplasia murk Jansen type" }, { "id": "MONDO:0007982", "name": "metaphyseal chondrodysplasia, Jansen type" }, { "id": "MONDO:0007982", "name": "metaphyseal chondrodysplasia, murk Jansen type" }, { "id": "MONDO:0007982", "name": "murk Jansen type metaphyseal chondrodysplasia" }, { "id": "MIM:156400", "name": "Metaphyseal chondrodysplasia, Jansen type" } ], "record_url": "http://disease-ontology.org/term/DOID:0080020", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080021", "disease_id": "DOID:0080021", "recommended_name": "Schmid metaphyseal chondrodysplasia", "synonyms": [ { "id": "DOID:0080021", "name": "Japanese type spondylometaphyseal dysplasia" }, { "id": "DOID:0080021", "name": "Schmid type metaphyseal dysplasia" }, { "id": "MONDO:0007983", "name": "Schmid metaphyseal chondrodysplasia" }, { "id": "MONDO:0007983", "name": "MCDS" }, { "id": "MONDO:0007983", "name": "Metaphyseal Chondrodysplasia, Schmid Type" }, { "id": "MONDO:0007983", "name": "metaphyseal chondrodysplasia Schmid type" }, { "id": "MONDO:0007983", "name": "metaphyseal chondrodysplasia, Schmid type" }, { "id": "MONDO:0007983", "name": "spondylometaphyseal dysplasia, Japanese type" }, { "id": "MIM:156500", "name": "Schmid type metaphyseal chondrodysplasia" } ], "record_url": "http://disease-ontology.org/term/DOID:0080021", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080026", "disease_id": "DOID:0080026", "recommended_name": "otospondylomegaepiphyseal dysplasia, autosomal recessive", "synonyms": [ { "id": "DOID:0080026", "name": "CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS" }, { "id": "DOID:0080026", "name": "NANCE-INSLEY SYNDROME" }, { "id": "DOID:0080026", "name": "NANCE-SWEENEY CHONDRODYSPLASIA" }, { "id": "DOID:0080026", "name": "OSMEDB" }, { "id": "MONDO:0044206", "name": "otospondylomegaepiphyseal dysplasia, autosomal recessive" }, { "id": "MONDO:0044206", "name": "otospondylomegaepiphyseal dysplasia, autosomal recessive" }, { "id": "MONDO:0044206", "name": "OSMED" }, { "id": "MONDO:0044206", "name": "OSMEDB" }, { "id": "MONDO:0044206", "name": "Weissenbacher-Zweymuller syndrome" }, { "id": "MIM:215150", "name": "Otospondylomegaepiphyseal dysplasia, autosomal recessive" } ], "record_url": "http://disease-ontology.org/term/DOID:0080026", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080027", "disease_id": "DOID:0080027", "recommended_name": "spondyloepimetaphyseal dysplasia", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080027", "snv_count": 0, "protein_count": 13, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.4, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080028", "disease_id": "DOID:0080028", "recommended_name": "spondyloepimetaphyseal dysplasia, Strudwick type", "synonyms": [ { "id": "MONDO:0008476", "name": "spondyloepimetaphyseal dysplasia, Strudwick type" }, { "id": "MONDO:0008476", "name": "spondyloepimetaphyseal dysplasia, Strudwick type" }, { "id": "MONDO:0008476", "name": "SEMDSTWK" }, { "id": "MONDO:0008476", "name": "SMED Strudwick type" }, { "id": "MONDO:0008476", "name": "SMED type 1" }, { "id": "MONDO:0008476", "name": "SmD" }, { "id": "MONDO:0008476", "name": "spondyloepimetaphyseal dysplasia Strudwick type" }, { "id": "MIM:184250", "name": "Spondyloepimetaphyseal dysplasia, Strudwick type" } ], "record_url": "http://disease-ontology.org/term/DOID:0080028", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080029", "disease_id": "DOID:0080029", "recommended_name": "autosomal recessive spinocerebellar ataxia 16", "synonyms": [ { "id": "DOID:0080029", "name": "SCAR16" }, { "id": "MONDO:0014339", "name": "autosomal recessive spinocerebellar ataxia 16" }, { "id": "MONDO:0014339", "name": "SCAR16" }, { "id": "MONDO:0014339", "name": "STUB1 autosomal recessive cerebellar ataxia" }, { "id": "MONDO:0014339", "name": "autosomal recessive cerebellar ataxia caused by mutation in STUB1" }, { "id": "MONDO:0014339", "name": "autosomal recessive spinocerebellar ataxia 16" }, { "id": "MONDO:0014339", "name": "autosomal recessive spinocerebellar ataxia type 16" }, { "id": "MONDO:0014339", "name": "spinocerebellar ataxia autosomal recessive type 16" }, { "id": "MONDO:0014339", "name": "spinocerebellar ataxia, autosomal recessive type 16" }, { "id": "MONDO:0014339", "name": "spinocerebellar ataxia, autosomal recessive 16" }, { "id": "MIM:615768", "name": "Spinocerebellar ataxia, autosomal recessive, 16" } ], "record_url": "http://disease-ontology.org/term/DOID:0080029", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080030", "disease_id": "DOID:0080030", "recommended_name": "spondyloepimetaphyseal dysplasia, Missouri type", "synonyms": [ { "id": "MONDO:0011198", "name": "spondyloepimetaphyseal dysplasia, Missouri type" }, { "id": "MONDO:0011198", "name": "SEMD type 2" }, { "id": "MONDO:0011198", "name": "SEMD, Missouri type" }, { "id": "MONDO:0011198", "name": "spondyloepimetaphyseal dysplasia type 2" }, { "id": "MONDO:0011198", "name": "spondyloepimetaphyseal dysplasia, Missouri type" }, { "id": "MONDO:0011198", "name": "Missouri type of spondyloepimetaphyseal dysplasia" }, { "id": "MONDO:0011198", "name": "SEMD Missouri type" }, { "id": "MONDO:0011198", "name": "spondyloepimetaphyseal dysplasia Missouri type" }, { "id": "MIM:602111", "name": "Spondyloepimetaphyseal dysplasia, Missouri type" } ], "record_url": "http://disease-ontology.org/term/DOID:0080030", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080033", "disease_id": "DOID:0080033", "recommended_name": "craniometaphyseal dysplasia", "synonyms": [ { "id": "MONDO:0007397", "name": "craniometaphyseal dysplasia, autosomal dominant" }, { "id": "MONDO:0007397", "name": "craniometaphyseal dysplasia, autosomal dominant" }, { "id": "MONDO:0007397", "name": "CMD" }, { "id": "MONDO:0007397", "name": "CMDD" }, { "id": "MONDO:0007397", "name": "CMDJ" }, { "id": "MONDO:0007397", "name": "craniometaphyseal dysplasia Jackson type" }, { "id": "MIM:123000", "name": "Craniometaphyseal dysplasia, autosomal dominant" } ], "record_url": "http://disease-ontology.org/term/DOID:0080033", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080036", "disease_id": "DOID:0080036", "recommended_name": "SOST-related sclerosing bone dysplasia", "synonyms": [ { "id": "DOID:0080036", "name": "van Buchem disease" }, { "id": "MONDO:0009395", "name": "hyperostosis corticalis generalisata" }, { "id": "MONDO:0009395", "name": "Van Buchem disease" }, { "id": "MONDO:0009395", "name": "endosteal hyperostosis" }, { "id": "MONDO:0009395", "name": "hyperostosis corticalis generalisata" }, { "id": "MONDO:0009395", "name": "hyperphosphatasemia tarda" }, { "id": "MONDO:0009395", "name": "van Buchem disease" }, { "id": "MONDO:0009395", "name": "van Buchem disease type 1" }, { "id": "MONDO:0009395", "name": "VBCH" }, { "id": "MONDO:0009395", "name": "endosteal hyperostosis autosomal recessive" }, { "id": "MIM:239100", "name": "Van Buchem disease" } ], "record_url": "http://disease-ontology.org/term/DOID:0080036", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080037", "disease_id": "DOID:0080037", "recommended_name": "Worth syndrome", "synonyms": [ { "id": "DOID:0080037", "name": "autosomal dominant endosteal hyperostosis" }, { "id": "DOID:0080037", "name": "autosomal dominant osteosclerosis" }, { "id": "DOID:0080037", "name": "benign form of Worth hyperostosis corticalis generalisata with torus platinus" }, { "id": "DOID:0080037", "name": "Worth's syndrome" }, { "id": "MONDO:0007764", "name": "autosomal dominant osteosclerosis, Worth type" }, { "id": "MONDO:0007764", "name": "Ostosclrose autosomique dominante type Worth" }, { "id": "MONDO:0007764", "name": "Worth syndrome" }, { "id": "MONDO:0007764", "name": "Worth's syndrome" }, { "id": "MONDO:0007764", "name": "endosteal hyperostosis, Worth type" }, { "id": "MONDO:0007764", "name": "hyperostosis, endosteal" }, { "id": "MONDO:0007764", "name": "VBCH2" }, { "id": "MONDO:0007764", "name": "Van Buchem disease type 2" }, { "id": "MONDO:0007764", "name": "hyperostosis corticalis generalisata, benign form of Worth with torus palatinus" }, { "id": "MONDO:0007764", "name": "osteosclerosis of the skull and enlarged mandible" }, { "id": "MONDO:0007764", "name": "osteosclerosis, autosomal dominant, Worth type" }, { "id": "MONDO:0007764", "name": "autosomal dominant osteosclerosis, Worth type" }, { "id": "MONDO:0007764", "name": "Ostosclrose autosomique dominante type Worth" }, { "id": "MONDO:0007764", "name": "Worth syndrome" }, { "id": "MONDO:0007764", "name": "Worth's syndrome" }, { "id": "MONDO:0007764", "name": "endosteal hyperostosis, Worth type" }, { "id": "MONDO:0007764", "name": "hyperostosis, endosteal" }, { "id": "MONDO:0007764", "name": "VBCH2" }, { "id": "MONDO:0007764", "name": "Van Buchem disease type 2" }, { "id": "MONDO:0007764", "name": "hyperostosis corticalis generalisata, benign form of Worth with torus palatinus" }, { "id": "MONDO:0007764", "name": "osteosclerosis of the skull and enlarged mandible" }, { "id": "MONDO:0007764", "name": "osteosclerosis, autosomal dominant, Worth type" }, { "id": "MIM:144750", "name": "Endosteal hyperostosis, Worth type" }, { "id": "MIM:607636", "name": "Van Buchem disease 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080037", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080038", "disease_id": "DOID:0080038", "recommended_name": "pycnodysostosis", "synonyms": [ { "id": "MONDO:0009940", "name": "pycnodysostosis" }, { "id": "MONDO:0009940", "name": "Pyknodysostosis" }, { "id": "MONDO:0009940", "name": "pycnodysostosis" }, { "id": "MONDO:0009940", "name": "PKND" }, { "id": "MIM:265800", "name": "Pycnodysostosis" } ], "record_url": "http://disease-ontology.org/term/DOID:0080038", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080041", "disease_id": "DOID:0080041", "recommended_name": "hypochondroplasia", "synonyms": [ { "id": "MONDO:0007793", "name": "hypochondroplasia" }, { "id": "MONDO:0007793", "name": "hypochondroplasia" }, { "id": "MONDO:0007793", "name": "HCH" }, { "id": "MIM:146000", "name": "Hypochondroplasia" } ], "record_url": "http://disease-ontology.org/term/DOID:0080041", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080042", "disease_id": "DOID:0080042", "recommended_name": "autosomal recessive spinocerebellar ataxia 18", "synonyms": [ { "id": "DOID:0080042", "name": "SCAR18" }, { "id": "MONDO:0014530", "name": "autosomal recessive spinocerebellar ataxia 18" }, { "id": "MONDO:0014530", "name": "GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome" }, { "id": "MONDO:0014530", "name": "GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome" }, { "id": "MONDO:0014530", "name": "SCAR18" }, { "id": "MONDO:0014530", "name": "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2" }, { "id": "MONDO:0014530", "name": "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2" }, { "id": "MONDO:0014530", "name": "autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency" }, { "id": "MONDO:0014530", "name": "autosomal recessive spinocerebellar ataxia type 18" }, { "id": "MONDO:0014530", "name": "spinocerebellar ataxia, autosomal recessive type 18" }, { "id": "MONDO:0014530", "name": "spinocerebellar ataxia, autosomal recessive 18" }, { "id": "MIM:616204", "name": "Spinocerebellar ataxia, autosomal recessive, 18" } ], "record_url": "http://disease-ontology.org/term/DOID:0080042", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080043", "disease_id": "DOID:0080043", "recommended_name": "achondrogenesis", "synonyms": [ { "id": "MONDO:0008701", "name": "achondrogenesis type IA" }, { "id": "MONDO:0008701", "name": "achondrogenesis, Houston-Harris type" }, { "id": "MONDO:0008701", "name": "ACG1A" }, { "id": "MONDO:0008701", "name": "Houston-Harris achondrogenesis" }, { "id": "MONDO:0008701", "name": "achondrogenesis, type IA" }, { "id": "MIM:200600", "name": "Achondrogenesis 1A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080043", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0080044", "disease_id": "DOID:0080044", "recommended_name": "hypochondrogenesis", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080044", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Rat;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080045", "disease_id": "DOID:0080045", "recommended_name": "Kniest dysplasia", "synonyms": [ { "id": "MONDO:0007987", "name": "Kniest dysplasia" }, { "id": "MONDO:0007987", "name": "Kniest dysplasia" }, { "id": "MIM:156550", "name": "Kniest dysplasia" } ], "record_url": "http://disease-ontology.org/term/DOID:0080045", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080046", "disease_id": "DOID:0080046", "recommended_name": "Stickler syndrome", "synonyms": [ { "id": "MONDO:0007160", "name": "Stickler syndrome type 1" }, { "id": "MONDO:0007160", "name": "Stickler syndrome type 1" }, { "id": "MONDO:0007160", "name": "STL1" }, { "id": "MONDO:0007160", "name": "Stickler syndrome, type I" }, { "id": "MIM:108300", "name": "Stickler syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080046", "snv_count": 0, "protein_count": 30, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 3.1, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080047", "disease_id": "DOID:0080047", "recommended_name": "pseudoachondroplasia", "synonyms": [ { "id": "DOID:0080047", "name": "pseudoachondroplastic dysplasia" }, { "id": "DOID:0080047", "name": "SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC" }, { "id": "MONDO:0008322", "name": "pseudoachondroplasia" }, { "id": "MONDO:0008322", "name": "Pseudoachondroplastic dysplasia" }, { "id": "MONDO:0008322", "name": "Pseudoachondroplastic spondyloepiphyseal dysplasia" }, { "id": "MONDO:0008322", "name": "pseudoachondroplasia" }, { "id": "MONDO:0008322", "name": "pseudoachondroplastic dysplasia" }, { "id": "MONDO:0008322", "name": "spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC" }, { "id": "MONDO:0008322", "name": "PSACH" }, { "id": "MONDO:0008322", "name": "Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome" }, { "id": "MIM:177170", "name": "Pseudoachondroplasia" } ], "record_url": "http://disease-ontology.org/term/DOID:0080047", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080050", "disease_id": "DOID:0080050", "recommended_name": "acromesomelic dysplasia, Maroteaux type", "synonyms": [ { "id": "DOID:0080050", "name": "acromesomelic dysplasia-1" }, { "id": "MONDO:0011275", "name": "acromesomelic dysplasia 1, Maroteaux type" }, { "id": "MONDO:0011275", "name": "acromesomelic dysplasia 1, Maroteaux type" }, { "id": "MONDO:0011275", "name": "acromesomelic dysplasia, Maroteaux type" }, { "id": "MONDO:0011275", "name": "AMDM" }, { "id": "MONDO:0011275", "name": "acromesomelic dwarfism Maroteux type" }, { "id": "MONDO:0011275", "name": "acromesomelic dysplasia Maroteaux type" }, { "id": "MIM:602875", "name": "Acromesomelic dysplasia 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080050", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080051", "disease_id": "DOID:0080051", "recommended_name": "acromesomelic dysplasia, Hunter-Thompson type", "synonyms": [ { "id": "DOID:0080051", "name": "acromesomelic dwarfism" }, { "id": "DOID:0080051", "name": "acromesomelic dysplasia-2C" }, { "id": "MONDO:0008717", "name": "acromesomelic dysplasia 2C, Hunter-Thompson type" }, { "id": "MONDO:0008717", "name": "acromesomelic dwarfism" }, { "id": "MONDO:0008717", "name": "acromesomelic dysplasia 2C, Hunter-Thompson type" }, { "id": "MONDO:0008717", "name": "acromesomelic dysplasia, Hunter-Thompson type" }, { "id": "MONDO:0008717", "name": "AMDH" }, { "id": "MONDO:0008717", "name": "acromesomelic dysplasia Hunter Thompson type" }, { "id": "MIM:201250", "name": "Acromesomelic dysplasia 2C" } ], "record_url": "http://disease-ontology.org/term/DOID:0080051", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080052", "disease_id": "DOID:0080052", "recommended_name": "acromesomelic dysplasia, Grebe type", "synonyms": [ { "id": "DOID:0080052", "name": "grebe chondrodysplasia" }, { "id": "DOID:0080052", "name": "acromesomelic dysplasia-2A" }, { "id": "MONDO:0008703", "name": "acromesomelic dysplasia 2A" }, { "id": "MONDO:0008703", "name": "GREBE chondrodysplasia" }, { "id": "MONDO:0008703", "name": "Grebe chondrodysplasia" }, { "id": "MONDO:0008703", "name": "Grebe dysplasia" }, { "id": "MONDO:0008703", "name": "Langer-Saldino achondrogenesis" }, { "id": "MONDO:0008703", "name": "acromesomelic dysplasia 2A" }, { "id": "MONDO:0008703", "name": "acromesomelic dysplasia, Grebe type" }, { "id": "MONDO:0008703", "name": "chondrodysplasia, Grebe type" }, { "id": "MONDO:0008703", "name": "type II achondrogenesis" }, { "id": "MONDO:0008703", "name": "AMDG" }, { "id": "MONDO:0008703", "name": "Brazilian achondrogenesis" }, { "id": "MONDO:0008703", "name": "Grebe syndrome" }, { "id": "MONDO:0008703", "name": "achondrogenesis type II (formerly)" }, { "id": "MIM:200700", "name": "Acromesomelic dysplasia 2A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080052", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080053", "disease_id": "DOID:0080053", "recommended_name": "pseudohypoparathyroidism type 1A", "synonyms": [ { "id": "DOID:0080053", "name": "Albright hereditary osteodystrophy" }, { "id": "DOID:0080053", "name": "Albright's hereditary osteodystrophy" }, { "id": "DOID:0080053", "name": "PHP Ia" }, { "id": "MONDO:0007078", "name": "pseudohypoparathyroidism type 1A" }, { "id": "MONDO:0007078", "name": "AHO-PHP syndrome Ia" }, { "id": "MONDO:0007078", "name": "Albright hereditary osteodystrophy" }, { "id": "MONDO:0007078", "name": "Albright hereditary osteodystrophy with multiple hormone resistance" }, { "id": "MONDO:0007078", "name": "Albright hereditary osteodystrophy-PHP syndrome Ia" }, { "id": "MONDO:0007078", "name": "PHP1A" }, { "id": "MONDO:0007078", "name": "Pseudohypoparathyroidism Ia" }, { "id": "MONDO:0007078", "name": "Pseudohypoparathyroidism type 1A" }, { "id": "MONDO:0007078", "name": "AHO" }, { "id": "MONDO:0007078", "name": "Pseudohypoparathyroidism, type IA" }, { "id": "MIM:103580", "name": "Pseudohypoparathyroidism 1A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080053", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080054", "disease_id": "DOID:0080054", "recommended_name": "achondrogenesis type IA", "synonyms": [ { "id": "DOID:0080054", "name": "achondrogenesis Houston-Harris type" }, { "id": "MONDO:0008701", "name": "achondrogenesis type IA" }, { "id": "MONDO:0008701", "name": "achondrogenesis, Houston-Harris type" }, { "id": "MONDO:0008701", "name": "ACG1A" }, { "id": "MONDO:0008701", "name": "Houston-Harris achondrogenesis" }, { "id": "MONDO:0008701", "name": "achondrogenesis, type IA" }, { "id": "MIM:200600", "name": "Achondrogenesis 1A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080054", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080055", "disease_id": "DOID:0080055", "recommended_name": "achondrogenesis type IB", "synonyms": [ { "id": "DOID:0080055", "name": "achondrogenesis Fraccaro type" }, { "id": "MONDO:0010966", "name": "achondrogenesis type IB" }, { "id": "MONDO:0010966", "name": "achondrogenesis Ib" }, { "id": "MONDO:0010966", "name": "achondrogenesis type IB" }, { "id": "MONDO:0010966", "name": "achondrogenesis, Parenti-Fraccaro type" }, { "id": "MONDO:0010966", "name": "ACG1B" }, { "id": "MONDO:0010966", "name": "Fraccaro achondrogenesis" }, { "id": "MONDO:0010966", "name": "achondrogenesis, type IB" }, { "id": "MIM:600972", "name": "Achondrogenesis 1B" } ], "record_url": "http://disease-ontology.org/term/DOID:0080055", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080056", "disease_id": "DOID:0080056", "recommended_name": "achondrogenesis type II", "synonyms": [ { "id": "MONDO:0008702", "name": "achondrogenesis type II" }, { "id": "MONDO:0008702", "name": "achondrogenesis type II" }, { "id": "MONDO:0008702", "name": "achondrogenesis, Langer-Saldino type" }, { "id": "MONDO:0008702", "name": "achondrogenesis, type II or hypochondrogenesis" }, { "id": "MONDO:0008702", "name": "ACG2" }, { "id": "MONDO:0008702", "name": "achondrogenesis, type II" }, { "id": "MIM:200610", "name": "Achondrogenesis 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080056", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080057", "disease_id": "DOID:0080057", "recommended_name": "autosomal recessive spinocerebellar ataxia 15", "synonyms": [ { "id": "DOID:0080057", "name": "SCAR15" }, { "id": "MONDO:0014311", "name": "autosomal recessive spinocerebellar ataxia 15" }, { "id": "MONDO:0014311", "name": "RUBCN autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome" }, { "id": "MONDO:0014311", "name": "RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" }, { "id": "MONDO:0014311", "name": "SCAR15" }, { "id": "MONDO:0014311", "name": "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in RUBCN" }, { "id": "MONDO:0014311", "name": "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN" }, { "id": "MONDO:0014311", "name": "autosomal recessive spinocerebellar ataxia type 15" }, { "id": "MONDO:0014311", "name": "spinocerebellar ataxia, autosomal recessive type 15" }, { "id": "MONDO:0014311", "name": "spinocerebellar ataxia, autosomal recessive 15" }, { "id": "MIM:615705", "name": "Spinocerebellar ataxia, autosomal recessive, 15" } ], "record_url": "http://disease-ontology.org/term/DOID:0080057", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080058", "disease_id": "DOID:0080058", "recommended_name": "autosomal recessive spinocerebellar ataxia 14", "synonyms": [ { "id": "DOID:0080058", "name": "SCAR14" }, { "id": "MONDO:0014159", "name": "autosomal recessive spinocerebellar ataxia 14" }, { "id": "MONDO:0014159", "name": "Ataxie spinocrbelleuse dbut infantile avec retard psychomoteur" }, { "id": "MONDO:0014159", "name": "SCAR14" }, { "id": "MONDO:0014159", "name": "SPARCA" }, { "id": "MONDO:0014159", "name": "SPARCA1" }, { "id": "MONDO:0014159", "name": "SPTBN2 autosomal recessive cerebellar ataxia" }, { "id": "MONDO:0014159", "name": "autosomal recessive cerebellar ataxia caused by mutation in SPTBN2" }, { "id": "MONDO:0014159", "name": "autosomal recessive cerebellar ataxia-cognitive defect syndrome" }, { "id": "MONDO:0014159", "name": "autosomal recessive spinocerebellar ataxia type 14" }, { "id": "MONDO:0014159", "name": "infantile-onset spinocerebellar ataxia-psychomotor delay syndrome" }, { "id": "MONDO:0014159", "name": "spectrin-associated autosomal recessive cerebellar ataxia type 1" }, { "id": "MONDO:0014159", "name": "spinocerebellar ataxia, autosomal recessive type 14" }, { "id": "MONDO:0014159", "name": "spinocerebellar ataxia, autosomal recessive 14" }, { "id": "MIM:615386", "name": "Spinocerebellar ataxia, autosomal recessive, 14" } ], "record_url": "http://disease-ontology.org/term/DOID:0080058", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001001001" }, { "record_id": "doid.0080059", "disease_id": "DOID:0080059", "recommended_name": "autosomal recessive spinocerebellar ataxia 7", "synonyms": [ { "id": "DOID:0080059", "name": "SCAR7" }, { "id": "MONDO:0012235", "name": "autosomal recessive spinocerebellar ataxia 7" }, { "id": "MONDO:0012235", "name": "SCAR7" }, { "id": "MONDO:0012235", "name": "autosomal recessive spinocerebellar ataxia type 7" }, { "id": "MONDO:0012235", "name": "spinocerebellar ataxia, autosomal recessive type 7" }, { "id": "MONDO:0012235", "name": "childhood onset autosomal recessive slowly progressive spinocerebellar ataxia" }, { "id": "MONDO:0012235", "name": "spinocerebellar ataxia autosomal recessive 7" }, { "id": "MONDO:0012235", "name": "spinocerebellar ataxia, autosomal recessive 7" }, { "id": "MIM:609270", "name": "Spinocerebellar ataxia, autosomal recessive, 7" } ], "record_url": "http://disease-ontology.org/term/DOID:0080059", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080060", "disease_id": "DOID:0080060", "recommended_name": "autosomal recessive spinocerebellar ataxia 12", "synonyms": [ { "id": "DOID:0080060", "name": "SCAR12" }, { "id": "MONDO:0013687", "name": "autosomal recessive spinocerebellar ataxia 12" }, { "id": "MONDO:0013687", "name": "SCAR12" }, { "id": "MONDO:0013687", "name": "WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome" }, { "id": "MONDO:0013687", "name": "WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" }, { "id": "MONDO:0013687", "name": "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX" }, { "id": "MONDO:0013687", "name": "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX" }, { "id": "MONDO:0013687", "name": "autosomal recessive spinocerebellar ataxia 12" }, { "id": "MONDO:0013687", "name": "autosomal recessive spinocerebellar ataxia type 12" }, { "id": "MONDO:0013687", "name": "spinocerebellar ataxia, autosomal recessive type 12" }, { "id": "MONDO:0013687", "name": "spinocerebellar ataxia with mental retardation and epilepsy" }, { "id": "MONDO:0013687", "name": "spinocerebellar ataxia, autosomal recessive 12" }, { "id": "MIM:614322", "name": "Spinocerebellar ataxia, autosomal recessive, 12" } ], "record_url": "http://disease-ontology.org/term/DOID:0080060", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080061", "disease_id": "DOID:0080061", "recommended_name": "autosomal recessive spinocerebellar ataxia 2", "synonyms": [ { "id": "DOID:0080061", "name": "SCAR2" }, { "id": "MONDO:0008943", "name": "autosomal recessive spinocerebellar ataxia 2" }, { "id": "MONDO:0008943", "name": "PMPCA autosomal recessive congenital cerebellar ataxia" }, { "id": "MONDO:0008943", "name": "SCAR2" }, { "id": "MONDO:0008943", "name": "autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA" }, { "id": "MONDO:0008943", "name": "autosomal recessive spinocerebellar ataxia type 2" }, { "id": "MONDO:0008943", "name": "CPD3" }, { "id": "MONDO:0008943", "name": "CPDIII" }, { "id": "MONDO:0008943", "name": "cerebellar granular cell hypoplasia and mental retardation, congenital" }, { "id": "MONDO:0008943", "name": "spinocerebellar ataxia, autosomal recessive 2" }, { "id": "MIM:213200", "name": "Spinocerebellar ataxia, autosomal recessive, 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080061", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101010" }, { "record_id": "doid.0080062", "disease_id": "DOID:0080062", "recommended_name": "autosomal recessive spinocerebellar ataxia 13", "synonyms": [ { "id": "DOID:0080062", "name": "SCAR13" }, { "id": "MONDO:0013905", "name": "autosomal recessive spinocerebellar ataxia 13" }, { "id": "MONDO:0013905", "name": "GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome" }, { "id": "MONDO:0013905", "name": "GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome" }, { "id": "MONDO:0013905", "name": "SCAR13" }, { "id": "MONDO:0013905", "name": "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1" }, { "id": "MONDO:0013905", "name": "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1" }, { "id": "MONDO:0013905", "name": "autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency" }, { "id": "MONDO:0013905", "name": "autosomal recessive spinocerebellar ataxia 13" }, { "id": "MONDO:0013905", "name": "autosomal recessive spinocerebellar ataxia type 13" }, { "id": "MONDO:0013905", "name": "spinocerebellar ataxia, autosomal recessive type 13" }, { "id": "MONDO:0013905", "name": "spinocerebellar ataxia, autosomal recessive 13" }, { "id": "MIM:614831", "name": "Spinocerebellar ataxia, autosomal recessive, 13" } ], "record_url": "http://disease-ontology.org/term/DOID:0080062", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080063", "disease_id": "DOID:0080063", "recommended_name": "autosomal recessive spinocerebellar ataxia 11", "synonyms": [ { "id": "DOID:0080063", "name": "SCAR11" }, { "id": "MONDO:0013645", "name": "autosomal recessive spinocerebellar ataxia 11" }, { "id": "MONDO:0013645", "name": "SCAR11" }, { "id": "MONDO:0013645", "name": "SYT14 autosomal recessive syndromic cerebellar ataxia" }, { "id": "MONDO:0013645", "name": "autosomal recessive spinocerebellar ataxia 11" }, { "id": "MONDO:0013645", "name": "autosomal recessive spinocerebellar ataxia type 11" }, { "id": "MONDO:0013645", "name": "autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14" }, { "id": "MONDO:0013645", "name": "spinocerebellar ataxia, autosomal recessive type 11" }, { "id": "MONDO:0013645", "name": "spinocerebellar ataxia, autosomal recessive 11" }, { "id": "MIM:614229", "name": "Spinocerebellar ataxia, autosomal recessive, 11" } ], "record_url": "http://disease-ontology.org/term/DOID:0080063", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080064", "disease_id": "DOID:0080064", "recommended_name": "autosomal recessive spinocerebellar ataxia 17", "synonyms": [ { "id": "DOID:0080064", "name": "SCAR17" }, { "id": "MONDO:0014503", "name": "autosomal recessive spinocerebellar ataxia 17" }, { "id": "MONDO:0014503", "name": "CWF19L1 autosomal recessive congenital cerebellar ataxia" }, { "id": "MONDO:0014503", "name": "SCAR17" }, { "id": "MONDO:0014503", "name": "autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1" }, { "id": "MONDO:0014503", "name": "autosomal recessive spinocerebellar ataxia type 17" }, { "id": "MONDO:0014503", "name": "spinocerebellar ataxia autosomal recessive type 17" }, { "id": "MONDO:0014503", "name": "spinocerebellar ataxia, autosomal recessive type 17" }, { "id": "MONDO:0014503", "name": "spinocerebellar ataxia, autosomal recessive 17" }, { "id": "MIM:616127", "name": "Spinocerebellar ataxia, autosomal recessive, 17" } ], "record_url": "http://disease-ontology.org/term/DOID:0080064", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080065", "disease_id": "DOID:0080065", "recommended_name": "autosomal recessive spinocerebellar ataxia 19", "synonyms": [ { "id": "DOID:0080065", "name": "Lichtenstein-Knorr syndrome" }, { "id": "DOID:0080065", "name": "SCAR19" }, { "id": "MONDO:0014572", "name": "Lichtenstein-Knorr syndrome" }, { "id": "MONDO:0014572", "name": "LIKNS" }, { "id": "MONDO:0014572", "name": "Lichtenstein-Knorr syndrome" }, { "id": "MONDO:0014572", "name": "SCAR19" }, { "id": "MONDO:0014572", "name": "SLC9A1-related spinocerebellar ataxia syndrome" }, { "id": "MONDO:0014572", "name": "autosomal recessive spinocerebellar ataxia type 19" }, { "id": "MONDO:0014572", "name": "progressive autosomal recessive ataxia-sensorineural hearing loss syndrome" }, { "id": "MONDO:0014572", "name": "spinocerebellar ataxia, autosomal recessive 19" }, { "id": "MIM:616291", "name": "Lichtenstein-Knorr syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080065", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080066", "disease_id": "DOID:0080066", "recommended_name": "autosomal recessive spinocerebellar ataxia 20", "synonyms": [ { "id": "DOID:0080066", "name": "SCAR20" }, { "id": "MONDO:0014601", "name": "autosomal recessive spinocerebellar ataxia 20" }, { "id": "MONDO:0014601", "name": "SCAR20" }, { "id": "MONDO:0014601", "name": "SNX14 autosomal recessive cerebellar ataxia" }, { "id": "MONDO:0014601", "name": "autosomal recessive cerebellar ataxia caused by mutation in SNX14" }, { "id": "MONDO:0014601", "name": "autosomal recessive spinocerebellar ataxia type 20" }, { "id": "MONDO:0014601", "name": "intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome" }, { "id": "MONDO:0014601", "name": "spinocerebellar ataxia, autosomal recessive type 20" }, { "id": "MONDO:0014601", "name": "spinocerebellar ataxia, autosomal recessive 20" }, { "id": "MIM:616354", "name": "Spinocerebellar ataxia, autosomal recessive, 20" } ], "record_url": "http://disease-ontology.org/term/DOID:0080066", "snv_count": 0, "protein_count": 13, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.4, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080068", "disease_id": "DOID:0080068", "recommended_name": "Charcot-Marie-Tooth disease type 6", "synonyms": [ { "id": "DOID:0080068", "name": "hereditary motor and sensory neuropathy type 6" }, { "id": "MONDO:0011002", "name": "neuropathy, hereditary motor and sensory, type 6A" }, { "id": "MONDO:0011002", "name": "Charcot-Marie-Tooth disease, type 6" }, { "id": "MONDO:0011002", "name": "neuropathy, hereditary motor and sensory, type 6" }, { "id": "MONDO:0011002", "name": "peripheral neuropathy and optic atrophy" }, { "id": "MONDO:0011002", "name": "Charcot-Marie-Tooth disease, type 6A" }, { "id": "MONDO:0011002", "name": "HMSN6A" }, { "id": "MONDO:0011002", "name": "MFN2 hereditary motor and sensory neuropathy type 6" }, { "id": "MONDO:0011002", "name": "hereditary motor and sensory neuropathy VIA" }, { "id": "MONDO:0011002", "name": "hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2" }, { "id": "MONDO:0011002", "name": "neuropathy, hereditary motor and sensory, type VIA" }, { "id": "MONDO:0014671", "name": "neuropathy, hereditary motor and sensory, type 6B" }, { "id": "MONDO:0014671", "name": "CMT6B" }, { "id": "MONDO:0014671", "name": "Charcot-Marie-Tooth disease, type 6B" }, { "id": "MONDO:0014671", "name": "HMSN 6B" }, { "id": "MONDO:0014671", "name": "HMSN6B" }, { "id": "MONDO:0014671", "name": "SLC25A46 hereditary motor and sensory neuropathy type 6" }, { "id": "MONDO:0014671", "name": "hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46" }, { "id": "MONDO:0014671", "name": "neuropathy, hereditary motor and sensory, type 6B" }, { "id": "MONDO:0014671", "name": "neuropathy, hereditary motor and sensory, type VIB" }, { "id": "MIM:601152", "name": "Neuropathy, hereditary motor and sensory, 6A, with optic atrophy" }, { "id": "MIM:616505", "name": "Neuropathy, hereditary motor and sensory, 6B, with optic atrophy" } ], "record_url": "http://disease-ontology.org/term/DOID:0080068", "snv_count": 0, "protein_count": 13, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.4, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080070", "disease_id": "DOID:0080070", "recommended_name": "mucolipidosis II alpha/beta", "synonyms": [ { "id": "DOID:0080070", "name": "I-cell disease" }, { "id": "DOID:0080070", "name": "mucolipidosis II" }, { "id": "DOID:0080070", "name": "inclusion-cell disease" }, { "id": "MONDO:0009650", "name": "mucolipidosis type II" }, { "id": "MONDO:0009650", "name": "I Cell Disease" }, { "id": "MONDO:0009650", "name": "I-cell disease" }, { "id": "MONDO:0009650", "name": "N-acetylglucosamine 1-phosphotransferase deficiency" }, { "id": "MONDO:0009650", "name": "mucolipidosis type II" }, { "id": "MONDO:0009650", "name": "mucolipidosis type II alpha/beta" }, { "id": "MONDO:0009650", "name": "GNPTA" }, { "id": "MONDO:0009650", "name": "I cell disease" }, { "id": "MONDO:0009650", "name": "Leroy disease" }, { "id": "MONDO:0009650", "name": "ML 2" }, { "id": "MONDO:0009650", "name": "ML disorder type 2" }, { "id": "MONDO:0009650", "name": "N-acetylglucosamine 1phosphotransferase deficiency" }, { "id": "MONDO:0009650", "name": "inclusion cell disease" }, { "id": "MIM:252500", "name": "Mucolipidosis type II" } ], "record_url": "http://disease-ontology.org/term/DOID:0080070", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080071", "disease_id": "DOID:0080071", "recommended_name": "mucolipidosis III alpha/beta", "synonyms": [ { "id": "DOID:0080071", "name": "mucolipidosis III" }, { "id": "DOID:0080071", "name": "pseudo-Hurler polydystrophy" }, { "id": "MONDO:0018931", "name": "mucolipidosis type III, alpha/beta" }, { "id": "MONDO:0018931", "name": "ML 3" }, { "id": "MONDO:0018931", "name": "ML3" }, { "id": "MONDO:0018931", "name": "mucolipidosis 3" }, { "id": "MONDO:0018931", "name": "mucolipidosis III" }, { "id": "MONDO:0018931", "name": "ML 3 alpha/beta" }, { "id": "MONDO:0018931", "name": "ML III alpha/beta" }, { "id": "MONDO:0018931", "name": "MLIII" }, { "id": "MONDO:0018931", "name": "Pseudo Hurler Polydystrophy" }, { "id": "MONDO:0018931", "name": "mucolipidosis type 3 alpha/beta" }, { "id": "MONDO:0018931", "name": "mucolipidosis type III" }, { "id": "MONDO:0018931", "name": "pseudo-Hurler polydystrophy" }, { "id": "MONDO:0018931", "name": "ML 3 A" }, { "id": "MONDO:0018931", "name": "mucolipidosis type 3A" }, { "id": "MIM:252600", "name": "Mucolipidosis type III complementation group A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080071", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080072", "disease_id": "DOID:0080072", "recommended_name": "intestinal pseudo-obstruction", "synonyms": [ { "id": "DOID:0080072", "name": "Chronic intestinal pseudo-obstruction" }, { "id": "DOID:0080072", "name": "neuronal intestinal dysplasia" } ], "record_url": "http://disease-ontology.org/term/DOID:0080072", "snv_count": 0, "protein_count": 20, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080074", "disease_id": "DOID:0080074", "recommended_name": "neural tube defect", "synonyms": [ { "id": "MONDO:0010525", "name": "neural tube defects, X-linked" }, { "id": "MONDO:0010525", "name": "neural tube defects, X-linked" }, { "id": "MONDO:0010525", "name": "X-linked anencephaly/spina bifida" }, { "id": "MONDO:0010525", "name": "anencephaly and spina bifida X-linked" }, { "id": "MONDO:0011120", "name": "neural tube defects, folate-sensitive" }, { "id": "MONDO:0011120", "name": "neural tube defects, folate-sensitive" }, { "id": "MONDO:0011120", "name": "NTDFS" }, { "id": "MIM:601634", "name": "Neural tube defects, folate-sensitive" } ], "record_url": "http://disease-ontology.org/term/DOID:0080074", "snv_count": 0, "protein_count": 61, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 6.2, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080075", "disease_id": "DOID:0080075", "recommended_name": "Neu-Laxova syndrome 2", "synonyms": [ { "id": "MONDO:0014466", "name": "Neu-Laxova syndrome 2" }, { "id": "MONDO:0014466", "name": "Neu-Laxova syndrome 2" }, { "id": "MONDO:0014466", "name": "Neu-Laxova syndrome caused by mutation in PSAT1" }, { "id": "MONDO:0014466", "name": "Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency" }, { "id": "MONDO:0014466", "name": "Neu-Laxova syndrome type 2" }, { "id": "MONDO:0014466", "name": "PSAT1 Neu-Laxova syndrome" }, { "id": "MONDO:0014466", "name": "phosphoserine aminotransferase deficiency, prenatal form" }, { "id": "MONDO:0014466", "name": "NLS2" }, { "id": "MIM:616038", "name": "Neu-Laxova syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080075", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080076", "disease_id": "DOID:0080076", "recommended_name": "Neu-Laxova syndrome 1", "synonyms": [ { "id": "MONDO:0009736", "name": "Neu-Laxova syndrome 1" }, { "id": "MONDO:0009736", "name": "3-Phosphoglycerate dehydrogenase deficiency, neonatal form" }, { "id": "MONDO:0009736", "name": "3-phosphoglycerate dehydrogenase deficiency, prenatal form" }, { "id": "MONDO:0009736", "name": "Neu-Laxova syndrome 1" }, { "id": "MONDO:0009736", "name": "Neu-Laxova syndrome caused by mutation in PHGDH" }, { "id": "MONDO:0009736", "name": "Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency" }, { "id": "MONDO:0009736", "name": "Neu-Laxova syndrome type 1" }, { "id": "MONDO:0009736", "name": "PHGDH Neu-Laxova syndrome" }, { "id": "MONDO:0009736", "name": "NLS1" }, { "id": "MIM:256520", "name": "Neu-Laxova syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080076", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080077", "disease_id": "DOID:0080077", "recommended_name": "hypophosphatemic nephrolithiasis/osteoporosis 1", "synonyms": [ { "id": "MONDO:0012850", "name": "hypophosphatemic nephrolithiasis/osteoporosis 1" }, { "id": "MONDO:0012850", "name": "hypophosphatemic nephrolithiasis/osteoporosis type 1" }, { "id": "MONDO:0012850", "name": "nephrolithiasis/osteoporosis, hypophosphatemic, type 1" }, { "id": "MONDO:0012850", "name": "NPHLOP1" }, { "id": "MONDO:0012850", "name": "nephrolithiasis/osteoporosis, hypophosphatemic, 1" }, { "id": "MIM:612286", "name": "Nephrolithiasis/osteoporosis, hypophosphatemic, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080077", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080078", "disease_id": "DOID:0080078", "recommended_name": "hypophosphatemic nephrolithiasis/osteoporosis 2", "synonyms": [ { "id": "MONDO:0012851", "name": "hypophosphatemic nephrolithiasis/osteoporosis 2" }, { "id": "MONDO:0012851", "name": "hypophosphatemic nephrolithiasis/osteoporosis type 2" }, { "id": "MONDO:0012851", "name": "nephrolithiasis/osteoporosis, hypophosphatemic, type 2" }, { "id": "MONDO:0012851", "name": "NPHLOP2" }, { "id": "MONDO:0012851", "name": "nephrolithiasis/osteoporosis, hypophosphatemic, 2" }, { "id": "MIM:612287", "name": "Nephrolithiasis/osteoporosis, hypophosphatemic, 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080078", "snv_count": 0, "protein_count": 14, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080079", "disease_id": "DOID:0080079", "recommended_name": "nonsyndromic congenital nail disorder 1", "synonyms": [ { "id": "DOID:0080079", "name": "twenty-nail dystrophy" }, { "id": "DOID:0080079", "name": "nonsyndromic congenital nail disorder 10" }, { "id": "MONDO:0008060", "name": "nonsyndromic congenital nail disorder 1" }, { "id": "MONDO:0008060", "name": "FZD6 inherited isolated nail anomaly" }, { "id": "MONDO:0008060", "name": "inherited isolated nail anomaly caused by mutation in FZD6" }, { "id": "MONDO:0008060", "name": "nail disorder, nonsyndromic congenital, type 10" }, { "id": "MONDO:0008060", "name": "nonsyndromic congenital nail disorder 10" }, { "id": "MONDO:0008060", "name": "nonsyndromic congenital nail disorder type 1" }, { "id": "MONDO:0008060", "name": "nonsyndromic congenital nail disorder type 10" }, { "id": "MONDO:0008060", "name": "onychodystrophy totalis" }, { "id": "MONDO:0008060", "name": "twenty-nail dystrophy" }, { "id": "MONDO:0008060", "name": "NDNC1" }, { "id": "MONDO:0008060", "name": "NDNC10" }, { "id": "MONDO:0008060", "name": "nail disorder, nonsyndromic congenital 1" }, { "id": "MONDO:0008060", "name": "nail disorder, nonsyndromic congenital, 1" }, { "id": "MONDO:0008060", "name": "nail disorder, nonsyndromic congenital, 10" }, { "id": "MONDO:0008060", "name": "sandpaper nails" }, { "id": "MONDO:0008060", "name": "trachyonychia" }, { "id": "MONDO:0008060", "name": "twenty nail dystrophy" }, { "id": "MIM:161050", "name": "Nail disorder, non-syndromic congenital, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080079", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080081", "disease_id": "DOID:0080081", "recommended_name": "nonsyndromic congenital nail disorder 3", "synonyms": [ { "id": "MONDO:0007900", "name": "nonsyndromic congenital nail disorder 3" }, { "id": "MONDO:0007900", "name": "PLCD1 inherited isolated nail anomaly" }, { "id": "MONDO:0007900", "name": "inherited isolated nail anomaly caused by mutation in PLCD1" }, { "id": "MONDO:0007900", "name": "nail disorder, nonsyndromic congenital, 3, (leukonychia)" }, { "id": "MONDO:0007900", "name": "nail disorder, nonsyndromic congenital, type 3" }, { "id": "MONDO:0007900", "name": "nonsyndromic congenital nail disorder type 3" }, { "id": "MONDO:0007900", "name": "Gorlin Bushkell Jensen syndrome" }, { "id": "MONDO:0007900", "name": "NDNC3" }, { "id": "MONDO:0007900", "name": "leukonychia totalis multiple sebaceous cysts renal calculi" }, { "id": "MONDO:0007900", "name": "nail disorder, nonsyndromic congenital, 3" }, { "id": "MIM:151600", "name": "Nail disorder, non-syndromic congenital, 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080081", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080082", "disease_id": "DOID:0080082", "recommended_name": "nonsyndromic congenital nail disorder 4", "synonyms": [ { "id": "DOID:0080082", "name": "HYPONYCHIA CONGENITA" }, { "id": "DOID:0080082", "name": "anonychia congenita" }, { "id": "MONDO:0008798", "name": "nonsyndromic congenital nail disorder 4" }, { "id": "MONDO:0008798", "name": "RSPO4 isolated congenital anonychia" }, { "id": "MONDO:0008798", "name": "isolated congenital anonychia caused by mutation in RSPO4" }, { "id": "MONDO:0008798", "name": "nail disorder, nonsyndromic congenital, type 4" }, { "id": "MONDO:0008798", "name": "nonsyndromic congenital nail disorder 4" }, { "id": "MONDO:0008798", "name": "nonsyndromic congenital nail disorder type 4" }, { "id": "MONDO:0008798", "name": "NDNC4" }, { "id": "MONDO:0008798", "name": "nail disorder, nonsyndromic congenital, 4" }, { "id": "MIM:206800", "name": "Nail disorder, non-syndromic congenital, 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080082", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080086", "disease_id": "DOID:0080086", "recommended_name": "nonsyndromic congenital nail disorder 8", "synonyms": [ { "id": "DOID:0080086", "name": "isolated toenail dystrophy" }, { "id": "MONDO:0011852", "name": "nonsyndromic congenital nail disorder 8" }, { "id": "MONDO:0011852", "name": "COL7A1 inherited isolated nail anomaly" }, { "id": "MONDO:0011852", "name": "inherited isolated nail anomaly caused by mutation in COL7A1" }, { "id": "MONDO:0011852", "name": "nail disorder, nonsyndromic congenital, type 8" }, { "id": "MONDO:0011852", "name": "nonsyndromic congenital nail disorder type 8" }, { "id": "MONDO:0011852", "name": "NDNC8" }, { "id": "MONDO:0011852", "name": "nail disorder, nonsyndromic congenital, 8" }, { "id": "MIM:607523", "name": "Nail disorder, non-syndromic congenital, 8" } ], "record_url": "http://disease-ontology.org/term/DOID:0080086", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080089", "disease_id": "DOID:0080089", "recommended_name": "tubular aggregate myopathy 1", "synonyms": [ { "id": "MONDO:0024531", "name": "myopathy, tubular aggregate, 1" }, { "id": "MONDO:0024531", "name": "STIM1 tubular aggregate myopathy" }, { "id": "MONDO:0024531", "name": "myopathy, tubular aggregate, 1" }, { "id": "MONDO:0024531", "name": "tubular aggregate myopathy caused by mutation in STIM1" }, { "id": "MONDO:0024531", "name": "TAM1" }, { "id": "MIM:160565", "name": "Myopathy, tubular aggregate, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080089", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080090", "disease_id": "DOID:0080090", "recommended_name": "reducing body myopathy 1A", "synonyms": [ { "id": "MONDO:0010414", "name": "myopathy, reducing body, X-linked, early-onset, severe" }, { "id": "MONDO:0010414", "name": "myopathy, reducing body, X-linked, early-onset, severe" }, { "id": "MONDO:0010414", "name": "reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, X-linked dominant" }, { "id": "MONDO:0010414", "name": "RBMX1A" }, { "id": "MIM:300717", "name": "Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset" } ], "record_url": "http://disease-ontology.org/term/DOID:0080090", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080092", "disease_id": "DOID:0080092", "recommended_name": "myofibrillar myopathy 1", "synonyms": [ { "id": "DOID:0080092", "name": "autosomal recessive limb-girdle muscular dystrophy type 2R" }, { "id": "DOID:0080092", "name": "desminopathy" }, { "id": "MONDO:0011076", "name": "myofibrillar myopathy 1" }, { "id": "MONDO:0011076", "name": "DES autosomal recessive limb-girdle muscular dystrophy" }, { "id": "MONDO:0011076", "name": "DES myofibrillar myopathy (disease)" }, { "id": "MONDO:0011076", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES" }, { "id": "MONDO:0011076", "name": "autosomal recessive limb-girdle muscular dystrophy type 2R" }, { "id": "MONDO:0011076", "name": "desmin-related myofibrillar myopathy" }, { "id": "MONDO:0011076", "name": "desminopathy" }, { "id": "MONDO:0011076", "name": "myofibrillar myopathy (disease) caused by mutation in DES" }, { "id": "MONDO:0011076", "name": "myofibrillar myopathy 1" }, { "id": "MONDO:0011076", "name": "myofibrillar myopathy type 1" }, { "id": "MONDO:0011076", "name": "myopathy, myofibrillar, type 1" }, { "id": "MONDO:0011076", "name": "CMD1F and LGMD1D" }, { "id": "MONDO:0011076", "name": "IBM1" }, { "id": "MONDO:0011076", "name": "MFM1" }, { "id": "MONDO:0011076", "name": "arrhythmogenic right ventricular cardiomyopathy 7" }, { "id": "MONDO:0011076", "name": "arrhythmogenic right ventricular dysplasia, familial, 7" }, { "id": "MONDO:0011076", "name": "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D" }, { "id": "MONDO:0011076", "name": "cardiomyopathy, dilated, with conduction defect and muscular dystrophy" }, { "id": "MONDO:0011076", "name": "inclusion body myopathy 1, autosomal dominant" }, { "id": "MONDO:0011076", "name": "myopathy, myofibrillar, 1" }, { "id": "MONDO:0011076", "name": "myofibrillar myopathy 1" }, { "id": "MONDO:0011076", "name": "DES autosomal recessive limb-girdle muscular dystrophy" }, { "id": "MONDO:0011076", "name": "DES myofibrillar myopathy (disease)" }, { "id": "MONDO:0011076", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES" }, { "id": "MONDO:0011076", "name": "autosomal recessive limb-girdle muscular dystrophy type 2R" }, { "id": "MONDO:0011076", "name": "desmin-related myofibrillar myopathy" }, { "id": "MONDO:0011076", "name": "desminopathy" }, { "id": "MONDO:0011076", "name": "myofibrillar myopathy (disease) caused by mutation in DES" }, { "id": "MONDO:0011076", "name": "myofibrillar myopathy 1" }, { "id": "MONDO:0011076", "name": "myofibrillar myopathy type 1" }, { "id": "MONDO:0011076", "name": "myopathy, myofibrillar, type 1" }, { "id": "MONDO:0011076", "name": "CMD1F and LGMD1D" }, { "id": "MONDO:0011076", "name": "IBM1" }, { "id": "MONDO:0011076", "name": "MFM1" }, { "id": "MONDO:0011076", "name": "arrhythmogenic right ventricular cardiomyopathy 7" }, { "id": "MONDO:0011076", "name": "arrhythmogenic right ventricular dysplasia, familial, 7" }, { "id": "MONDO:0011076", "name": "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D" }, { "id": "MONDO:0011076", "name": "cardiomyopathy, dilated, with conduction defect and muscular dystrophy" }, { "id": "MONDO:0011076", "name": "inclusion body myopathy 1, autosomal dominant" }, { "id": "MONDO:0011076", "name": "myopathy, myofibrillar, 1" }, { "id": "MIM:601419", "name": "Myopathy, myofibrillar, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080092", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080093", "disease_id": "DOID:0080093", "recommended_name": "adult-onset myofibrillar myopathy 2A", "synonyms": [ { "id": "DOID:0080093", "name": "alpha-b crystallinopathy" }, { "id": "DOID:0080093", "name": "myofibrillar myopathy 2" }, { "id": "MONDO:0012130", "name": "myofibrillar myopathy 2" }, { "id": "MONDO:0012130", "name": "CRYAB autosomal dominant distal myopathy" }, { "id": "MONDO:0012130", "name": "CRYAB-related myofibrillar myopathy" }, { "id": "MONDO:0012130", "name": "alpha-B crystallinopathy" }, { "id": "MONDO:0012130", "name": "autosomal dominant distal myopathy caused by mutation in CRYAB" }, { "id": "MONDO:0012130", "name": "late-onset distal crystallinopathy" }, { "id": "MONDO:0012130", "name": "myofibrillar myopathy type 2" }, { "id": "MONDO:0012130", "name": "myopathy, myofibrillar, type 2" }, { "id": "MONDO:0012130", "name": "MFM2" }, { "id": "MONDO:0012130", "name": "myopathy, myofibrillar, 2" }, { "id": "MIM:608810", "name": "Myopathy, myofibrillar, 2A, adult-onset" } ], "record_url": "http://disease-ontology.org/term/DOID:0080093", "snv_count": 0, "protein_count": 24, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080094", "disease_id": "DOID:0080094", "recommended_name": "myofibrillar myopathy 3", "synonyms": [ { "id": "DOID:0080094", "name": "myotilinopathy" }, { "id": "DOID:0080094", "name": "autosomal dominant limb-girdle muscular dystrophy type 1A" }, { "id": "DOID:0080094", "name": "LGMD 1A" }, { "id": "DOID:0080094", "name": "spheroid body myopathy" }, { "id": "DOID:0080094", "name": "LGMD1A" }, { "id": "MONDO:0012215", "name": "myofibrillar myopathy 3" }, { "id": "MONDO:0012215", "name": "LGMD1A" }, { "id": "MONDO:0012215", "name": "MYOT autosomal dominant distal myopathy" }, { "id": "MONDO:0012215", "name": "MYOT autosomal dominant limb-girdle muscular dystrophy" }, { "id": "MONDO:0012215", "name": "MYOT-related myofibrillar myopathy" }, { "id": "MONDO:0012215", "name": "autosomal dominant distal myopathy caused by mutation in MYOT" }, { "id": "MONDO:0012215", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT" }, { "id": "MONDO:0012215", "name": "autosomal dominant limb-girdle muscular dystrophy type 1A" }, { "id": "MONDO:0012215", "name": "distal myotilinopathy" }, { "id": "MONDO:0012215", "name": "myofibrillar myopathy type 3" }, { "id": "MONDO:0012215", "name": "myopathy, myofibrillar, type 3" }, { "id": "MONDO:0012215", "name": "myotilinopathy" }, { "id": "MONDO:0012215", "name": "spheroid body myopathy" }, { "id": "MONDO:0012215", "name": "LGMD1" }, { "id": "MONDO:0012215", "name": "MFM3" }, { "id": "MONDO:0012215", "name": "autosomal dominant spheroid body myopathy" }, { "id": "MONDO:0012215", "name": "limb-girdle muscular dystrophy type 1A" }, { "id": "MONDO:0012215", "name": "muscular dystrophy, limb-girdle, type 1A" }, { "id": "MONDO:0012215", "name": "muscular dystrophy, proximal, type 1A" }, { "id": "MONDO:0012215", "name": "myopathy, myofibrillar, 3" }, { "id": "MONDO:0012215", "name": "myofibrillar myopathy 3" }, { "id": "MONDO:0012215", "name": "LGMD1A" }, { "id": "MONDO:0012215", "name": "MYOT autosomal dominant distal myopathy" }, { "id": "MONDO:0012215", "name": "MYOT autosomal dominant limb-girdle muscular dystrophy" }, { "id": "MONDO:0012215", "name": "MYOT-related myofibrillar myopathy" }, { "id": "MONDO:0012215", "name": "autosomal dominant distal myopathy caused by mutation in MYOT" }, { "id": "MONDO:0012215", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT" }, { "id": "MONDO:0012215", "name": "autosomal dominant limb-girdle muscular dystrophy type 1A" }, { "id": "MONDO:0012215", "name": "distal myotilinopathy" }, { "id": "MONDO:0012215", "name": "myofibrillar myopathy type 3" }, { "id": "MONDO:0012215", "name": "myopathy, myofibrillar, type 3" }, { "id": "MONDO:0012215", "name": "myotilinopathy" }, { "id": "MONDO:0012215", "name": "spheroid body myopathy" }, { "id": "MONDO:0012215", "name": "LGMD1" }, { "id": "MONDO:0012215", "name": "MFM3" }, { "id": "MONDO:0012215", "name": "autosomal dominant spheroid body myopathy" }, { "id": "MONDO:0012215", "name": "limb-girdle muscular dystrophy type 1A" }, { "id": "MONDO:0012215", "name": "muscular dystrophy, limb-girdle, type 1A" }, { "id": "MONDO:0012215", "name": "muscular dystrophy, proximal, type 1A" }, { "id": "MONDO:0012215", "name": "myopathy, myofibrillar, 3" }, { "id": "MONDO:0012215", "name": "myofibrillar myopathy 3" }, { "id": "MONDO:0012215", "name": "LGMD1A" }, { "id": "MONDO:0012215", "name": "MYOT autosomal dominant distal myopathy" }, { "id": "MONDO:0012215", "name": "MYOT autosomal dominant limb-girdle muscular dystrophy" }, { "id": "MONDO:0012215", "name": "MYOT-related myofibrillar myopathy" }, { "id": "MONDO:0012215", "name": "autosomal dominant distal myopathy caused by mutation in MYOT" }, { "id": "MONDO:0012215", "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT" }, { "id": "MONDO:0012215", "name": "autosomal dominant limb-girdle muscular dystrophy type 1A" }, { "id": "MONDO:0012215", "name": "distal myotilinopathy" }, { "id": "MONDO:0012215", "name": "myofibrillar myopathy type 3" }, { "id": "MONDO:0012215", "name": "myopathy, myofibrillar, type 3" }, { "id": "MONDO:0012215", "name": "myotilinopathy" }, { "id": "MONDO:0012215", "name": "spheroid body myopathy" }, { "id": "MONDO:0012215", "name": "LGMD1" }, { "id": "MONDO:0012215", "name": "MFM3" }, { "id": "MONDO:0012215", "name": "autosomal dominant spheroid body myopathy" }, { "id": "MONDO:0012215", "name": "limb-girdle muscular dystrophy type 1A" }, { "id": "MONDO:0012215", "name": "muscular dystrophy, limb-girdle, type 1A" }, { "id": "MONDO:0012215", "name": "muscular dystrophy, proximal, type 1A" }, { "id": "MONDO:0012215", "name": "myopathy, myofibrillar, 3" }, { "id": "MIM:609200", "name": "Myopathy, myofibrillar, 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080094", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080095", "disease_id": "DOID:0080095", "recommended_name": "myofibrillar myopathy 4", "synonyms": [ { "id": "DOID:0080095", "name": "zaspopathy" }, { "id": "MONDO:0012277", "name": "myofibrillar myopathy 4" }, { "id": "MONDO:0012277", "name": "LDB3 myofibrillar myopathy (disease)" }, { "id": "MONDO:0012277", "name": "LDB3-related myofibrillar myopathy" }, { "id": "MONDO:0012277", "name": "ZASP-related myofibrillar myopathy" }, { "id": "MONDO:0012277", "name": "myofibrillar myopathy (disease) caused by mutation in LDB3" }, { "id": "MONDO:0012277", "name": "myofibrillar myopathy type 4" }, { "id": "MONDO:0012277", "name": "myopathy, myofibrillar, type 4" }, { "id": "MONDO:0012277", "name": "MFM4" }, { "id": "MONDO:0012277", "name": "myopathy, myofibrillar, 4" }, { "id": "MIM:609452", "name": "Myopathy, myofibrillar, 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080095", "snv_count": 0, "protein_count": 14, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080096", "disease_id": "DOID:0080096", "recommended_name": "myofibrillar myopathy 5", "synonyms": [ { "id": "DOID:0080096", "name": "filaminopathy" }, { "id": "MONDO:0012289", "name": "myofibrillar myopathy 5" }, { "id": "MONDO:0012289", "name": "FLNC myofibrillar myopathy (disease)" }, { "id": "MONDO:0012289", "name": "myofibrillar myopathy (disease) caused by mutation in FLNC" }, { "id": "MONDO:0012289", "name": "myofibrillar myopathy 5" }, { "id": "MONDO:0012289", "name": "myofibrillar myopathy type 5" }, { "id": "MONDO:0012289", "name": "myopathy, myofibrillar, type 5" }, { "id": "MONDO:0012289", "name": "MFM5" }, { "id": "MONDO:0012289", "name": "myopathy, myofibrillar, 5" }, { "id": "MIM:609524", "name": "Myopathy, myofibrillar, 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0080096", "snv_count": 0, "protein_count": 15, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080097", "disease_id": "DOID:0080097", "recommended_name": "myofibrillar myopathy 6", "synonyms": [ { "id": "MONDO:0013061", "name": "myofibrillar myopathy 6" }, { "id": "MONDO:0013061", "name": "BAG3 myofibrillar myopathy (disease)" }, { "id": "MONDO:0013061", "name": "myofibrillar myopathy (disease) caused by mutation in BAG3" }, { "id": "MONDO:0013061", "name": "myofibrillar myopathy 6" }, { "id": "MONDO:0013061", "name": "myofibrillar myopathy type 6" }, { "id": "MONDO:0013061", "name": "myopathy, myofibrillar, type 6" }, { "id": "MONDO:0013061", "name": "MFM6" }, { "id": "MONDO:0013061", "name": "myopathy, myofibrillar, 6" }, { "id": "MIM:612954", "name": "Myopathy, myofibrillar, 6" } ], "record_url": "http://disease-ontology.org/term/DOID:0080097", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001100001" }, { "record_id": "doid.0080098", "disease_id": "DOID:0080098", "recommended_name": "myofibrillar myopathy 7", "synonyms": [ { "id": "MONDO:0014922", "name": "myofibrillar myopathy 7" }, { "id": "MONDO:0014922", "name": "KY myofibrillar myopathy (disease)" }, { "id": "MONDO:0014922", "name": "alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy" }, { "id": "MONDO:0014922", "name": "myofibrillar myopathy (disease) caused by mutation in KY" }, { "id": "MONDO:0014922", "name": "myopathy, myofibrillar, 7" }, { "id": "MONDO:0014922", "name": "myopathy, myofibrillar, type 7" }, { "id": "MONDO:0014922", "name": "MFM7" }, { "id": "MIM:617114", "name": "Myopathy, myofibrillar, 7" } ], "record_url": "http://disease-ontology.org/term/DOID:0080098", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080099", "disease_id": "DOID:0080099", "recommended_name": "myopathy, lactic acidosis, and sideroblastic anemia", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080099", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080101", "disease_id": "DOID:0080101", "recommended_name": "Compton-North congenital myopathy", "synonyms": [ { "id": "DOID:0080101", "name": "congenital myopathy 12" }, { "id": "MONDO:0012929", "name": "Compton-North congenital myopathy" }, { "id": "MONDO:0012929", "name": "Compton-North congenital myopathy" }, { "id": "MONDO:0012929", "name": "MYPCN" }, { "id": "MONDO:0012929", "name": "myopathy, congenital, Compton-NORTH" }, { "id": "MIM:612540", "name": "Congenital myopathy 12" } ], "record_url": "http://disease-ontology.org/term/DOID:0080101", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080102", "disease_id": "DOID:0080102", "recommended_name": "congenital myopathy 4A", "synonyms": [ { "id": "DOID:0080102", "name": "CFTD" }, { "id": "DOID:0080102", "name": "congenital fiber-type disproportion" }, { "id": "DOID:0080102", "name": "autosomal dominant congenital myopathy 4A" }, { "id": "MONDO:0800341", "name": "congenital myopathy 4A, autosomal dominant" }, { "id": "MONDO:0800341", "name": "CAPM1" }, { "id": "MONDO:0800341", "name": "CFTD" }, { "id": "MONDO:0800341", "name": "CFTDM" }, { "id": "MONDO:0800341", "name": "NEM1" }, { "id": "MONDO:0800341", "name": "cap myopathy 1" }, { "id": "MONDO:0800341", "name": "fiber-type disproportion myopathy, congenital" }, { "id": "MONDO:0800341", "name": "myopathy, congenital, with fiber-type disproportion" }, { "id": "MONDO:0800341", "name": "nemaline myopathy 1" }, { "id": "MIM:255310", "name": "Congenital myopathy 4A, autosomal dominant" } ], "record_url": "http://disease-ontology.org/term/DOID:0080102", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080105", "disease_id": "DOID:0080105", "recommended_name": "microcephaly and chorioretinopathy 1", "synonyms": [ { "id": "MONDO:0009624", "name": "microcephaly and chorioretinopathy 1" }, { "id": "MONDO:0009624", "name": "Pseudotoxoplasmosis syndrome" }, { "id": "MONDO:0009624", "name": "TUBGCP6 microcephaly and chorioretinopathy" }, { "id": "MONDO:0009624", "name": "autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome" }, { "id": "MONDO:0009624", "name": "microcephaly and chorioretinopathy 1" }, { "id": "MONDO:0009624", "name": "microcephaly and chorioretinopathy caused by mutation in TUBGCP6" }, { "id": "MONDO:0009624", "name": "microcephaly and chorioretinopathy type 1" }, { "id": "MONDO:0009624", "name": "microcephaly and chorioretinopathy, autosomal recessive, type 1" }, { "id": "MONDO:0009624", "name": "MCCRP1" }, { "id": "MONDO:0009624", "name": "microcephaly and chorioretinopathy, autosomal recessive, 1" }, { "id": "MIM:251270", "name": "Microcephaly and chorioretinopathy, autosomal recessive, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080105", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080106", "disease_id": "DOID:0080106", "recommended_name": "microcephaly and chorioretinopathy 2", "synonyms": [ { "id": "MONDO:0014516", "name": "microcephaly and chorioretinopathy 2" }, { "id": "MONDO:0014516", "name": "PLK4 microcephaly and chorioretinopathy" }, { "id": "MONDO:0014516", "name": "microcephaly and chorioretinopathy caused by mutation in PLK4" }, { "id": "MONDO:0014516", "name": "microcephaly and chorioretinopathy type 2" }, { "id": "MONDO:0014516", "name": "microcephaly and chorioretinopathy, autosomal recessive, type 2" }, { "id": "MONDO:0014516", "name": "MCCRP2" }, { "id": "MONDO:0014516", "name": "microcephaly and chorioretinopathy, autosomal recessive, 2" }, { "id": "MIM:616171", "name": "Microcephaly and chorioretinopathy, autosomal recessive, 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080106", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080107", "disease_id": "DOID:0080107", "recommended_name": "microcephaly and chorioretinopathy 3", "synonyms": [ { "id": "MONDO:0014592", "name": "microcephaly and chorioretinopathy 3" }, { "id": "MONDO:0014592", "name": "TUBGCP4 microcephaly and chorioretinopathy" }, { "id": "MONDO:0014592", "name": "microcephaly and chorioretinopathy caused by mutation in TUBGCP4" }, { "id": "MONDO:0014592", "name": "microcephaly and chorioretinopathy type 3" }, { "id": "MONDO:0014592", "name": "microcephaly and chorioretinopathy, autosomal recessive, type 3" }, { "id": "MONDO:0014592", "name": "MCCRP3" }, { "id": "MONDO:0014592", "name": "microcephaly and chorioretinopathy, autosomal recessive, 3" }, { "id": "MIM:616335", "name": "Microcephaly and chorioretinopathy, autosomal recessive, 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080107", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080108", "disease_id": "DOID:0080108", "recommended_name": "myoglobinuria", "synonyms": [ { "id": "MONDO:0008046", "name": "autosomal dominant myoglobinuria" }, { "id": "MONDO:0008046", "name": "myoglobinuria, autosomal dominant" }, { "id": "MONDO:0009992", "name": "myoglobinuria, acute recurrent, autosomal recessive" }, { "id": "MONDO:0009992", "name": "myoglobinuria, acute recurrent, autosomal recessive" }, { "id": "MONDO:0010791", "name": "myoglobinuria, recurrent" }, { "id": "MONDO:0010791", "name": "myoglobinuria, recurrent" }, { "id": "MONDO:0010791", "name": "myoglobinuria recurrent" }, { "id": "MIM:268200", "name": "Myoglobinuria, acute recurrent, autosomal recessive" }, { "id": "MIM:550500", "name": "Recurrent myoglobinuria mitochondrial" } ], "record_url": "http://disease-ontology.org/term/DOID:0080108", "snv_count": 0, "protein_count": 28, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080109", "disease_id": "DOID:0080109", "recommended_name": "infantile myofibromatosis", "synonyms": [ { "id": "DOID:0080109", "name": "congenital generalized fibromatosis" }, { "id": "MONDO:0009227", "name": "myofibromatosis, infantile, 1" }, { "id": "MONDO:0009227", "name": "PDGFRB myofibromatosis" }, { "id": "MONDO:0009227", "name": "myofibromatosis caused by mutation in PDGFRB" }, { "id": "MONDO:0009227", "name": "myofibromatosis, infantile, 1" }, { "id": "MONDO:0009227", "name": "myofibromatosis, infantile, type 1" }, { "id": "MONDO:0009227", "name": "IMF1" }, { "id": "MONDO:0009227", "name": "fibromatosis, congenital generalised" }, { "id": "MIM:228550", "name": "Myofibromatosis, infantile 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080109", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080110", "disease_id": "DOID:0080110", "recommended_name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome", "synonyms": [ { "id": "DOID:0080110", "name": "multiple pterygium syndrome" }, { "id": "MONDO:0008338", "name": "contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A" }, { "id": "MONDO:0008338", "name": "contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A" }, { "id": "MONDO:0008338", "name": "distal arthrogryposis type 8" }, { "id": "MONDO:0008338", "name": "multiple pterygium syndrome, autosomal dominant" }, { "id": "MONDO:0008338", "name": "DA8" }, { "id": "MONDO:0008338", "name": "arthrogryposis, distal, type 8" }, { "id": "MONDO:0009668", "name": "lethal multiple pterygium syndrome" }, { "id": "MONDO:0009668", "name": "LMPS" }, { "id": "MONDO:0009668", "name": "autosomal recessive lethal multiple pterygium syndrome" }, { "id": "MONDO:0009668", "name": "lethal multiple pterygium syndrome" }, { "id": "MONDO:0009668", "name": "multiple pterygium syndrome lethal type" }, { "id": "MONDO:0009668", "name": "multiple pterygium syndrome, lethal type" }, { "id": "MONDO:0009668", "name": "pterygium syndrome multiple lethal type" }, { "id": "MONDO:0009926", "name": "autosomal recessive multiple pterygium syndrome" }, { "id": "MONDO:0009926", "name": "EVMPS" }, { "id": "MONDO:0009926", "name": "Escobar syndrome" }, { "id": "MONDO:0009926", "name": "Escobar variant multiple pterygium syndrome" }, { "id": "MONDO:0009926", "name": "autosomal recessive multiple pterygium syndrome" }, { "id": "MONDO:0009926", "name": "autosomal recessive non-lethal multiple pterygium syndrome" }, { "id": "MONDO:0009926", "name": "multiple pterygium syndrome, autosomal recessive" }, { "id": "MONDO:0009926", "name": "multiple pterygium syndrome" }, { "id": "MONDO:0009926", "name": "multiple pterygium syndrome Escobar type" }, { "id": "MONDO:0009926", "name": "multiple pterygium syndrome nonlethal type" }, { "id": "MONDO:0009926", "name": "multiple pterygium syndrome, ESCOBAR variant" }, { "id": "MONDO:0009926", "name": "pterygium colli syndrome" }, { "id": "MONDO:0009926", "name": "pterygium syndrome" }, { "id": "MONDO:0009926", "name": "pterygium universale" }, { "id": "MONDO:0010716", "name": "X-linked lethal multiple pterygium syndrome" }, { "id": "MONDO:0010716", "name": "lethal multiple pterygium syndrome, X-linked" }, { "id": "MONDO:0010716", "name": "multiple pterygium syndrome X-linked" }, { "id": "MONDO:0010716", "name": "pterygium syndrome multiple X-linked" }, { "id": "MIM:178110", "name": "Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A" }, { "id": "MIM:253290", "name": "Multiple pterygium syndrome, lethal type" }, { "id": "MIM:265000", "name": "Multiple pterygium syndrome, Escobar variant" } ], "record_url": "http://disease-ontology.org/term/DOID:0080110", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080111", "disease_id": "DOID:0080111", "recommended_name": "mitochondrial complex III deficiency nuclear type 1", "synonyms": [ { "id": "MONDO:0007415", "name": "mitochondrial complex III deficiency nuclear type 1" }, { "id": "MONDO:0007415", "name": "BCS1L mitochondrial complex III deficiency" }, { "id": "MONDO:0007415", "name": "mitochondrial complex III deficiency caused by mutation in BCS1L" }, { "id": "MONDO:0007415", "name": "Complex 3 mitochondrial respiratory chain deficiency" }, { "id": "MONDO:0007415", "name": "MC3DN1" }, { "id": "MONDO:0007415", "name": "mitochondrial complex III deficiency" }, { "id": "MONDO:0007415", "name": "mitochondrial complex III deficiency, nuclear type 1" }, { "id": "MIM:124000", "name": "Mitochondrial complex III deficiency, nuclear type 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080111", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001100011" }, { "record_id": "doid.0080112", "disease_id": "DOID:0080112", "recommended_name": "mitochondrial complex III deficiency nuclear type 3", "synonyms": [ { "id": "MONDO:0014064", "name": "mitochondrial complex III deficiency nuclear type 3" }, { "id": "MONDO:0014064", "name": "UQCRB mitochondrial complex III deficiency" }, { "id": "MONDO:0014064", "name": "mitochondrial complex III deficiency caused by mutation in UQCRB" }, { "id": "MONDO:0014064", "name": "MC3DN3" }, { "id": "MONDO:0014064", "name": "mitochondrial complex III deficiency, nuclear type 3" }, { "id": "MIM:615158", "name": "Mitochondrial complex III deficiency, nuclear type 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080112", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080113", "disease_id": "DOID:0080113", "recommended_name": "mitochondrial complex III deficiency nuclear type 4", "synonyms": [ { "id": "MONDO:0014065", "name": "mitochondrial complex III deficiency nuclear type 4" }, { "id": "MONDO:0014065", "name": "UQCRQ mitochondrial complex III deficiency" }, { "id": "MONDO:0014065", "name": "mitochondrial complex III deficiency caused by mutation in UQCRQ" }, { "id": "MONDO:0014065", "name": "MC3DN4" }, { "id": "MONDO:0014065", "name": "mitochondrial complex III deficiency, nuclear type 4" }, { "id": "MIM:615159", "name": "Mitochondrial complex III deficiency, nuclear type 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080113", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080114", "disease_id": "DOID:0080114", "recommended_name": "mitochondrial complex III deficiency nuclear type 5", "synonyms": [ { "id": "MONDO:0014066", "name": "mitochondrial complex III deficiency nuclear type 5" }, { "id": "MONDO:0014066", "name": "UQCRC2 mitochondrial complex III deficiency" }, { "id": "MONDO:0014066", "name": "mitochondrial complex III deficiency caused by mutation in UQCRC2" }, { "id": "MONDO:0014066", "name": "MC3DN5" }, { "id": "MONDO:0014066", "name": "mitochondrial complex III deficiency, nuclear type 5" }, { "id": "MIM:615160", "name": "Mitochondrial complex III deficiency, nuclear type 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0080114", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080115", "disease_id": "DOID:0080115", "recommended_name": "mitochondrial complex III deficiency nuclear type 6", "synonyms": [ { "id": "MONDO:0014194", "name": "mitochondrial complex III deficiency nuclear type 6" }, { "id": "MONDO:0014194", "name": "CYC1 mitochondrial complex III deficiency" }, { "id": "MONDO:0014194", "name": "mitochondrial complex III deficiency caused by mutation in CYC1" }, { "id": "MONDO:0014194", "name": "MC3DN6" }, { "id": "MONDO:0014194", "name": "mitochondrial complex III deficiency, nuclear type 6" }, { "id": "MIM:615453", "name": "Mitochondrial complex III deficiency, nuclear type 6" } ], "record_url": "http://disease-ontology.org/term/DOID:0080115", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080116", "disease_id": "DOID:0080116", "recommended_name": "mitochondrial complex III deficiency nuclear type 7", "synonyms": [ { "id": "MONDO:0014356", "name": "mitochondrial complex III deficiency nuclear type 7" }, { "id": "MONDO:0014356", "name": "UQCC2 mitochondrial complex III deficiency" }, { "id": "MONDO:0014356", "name": "mitochondrial complex III deficiency caused by mutation in UQCC2" }, { "id": "MONDO:0014356", "name": "MC3DN7" }, { "id": "MONDO:0014356", "name": "mitochondrial complex III deficiency, nuclear type 7" }, { "id": "MIM:615824", "name": "Mitochondrial complex III deficiency, nuclear type 7" } ], "record_url": "http://disease-ontology.org/term/DOID:0080116", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080117", "disease_id": "DOID:0080117", "recommended_name": "mitochondrial complex III deficiency nuclear type 8", "synonyms": [ { "id": "MONDO:0014364", "name": "mitochondrial complex III deficiency nuclear type 8" }, { "id": "MONDO:0014364", "name": "LYRM7 mitochondrial complex III deficiency" }, { "id": "MONDO:0014364", "name": "mitochondrial complex III deficiency caused by mutation in LYRM7" }, { "id": "MONDO:0014364", "name": "mitochondrial complex III deficiency nuclear type 8" }, { "id": "MONDO:0014364", "name": "MC3DN8" }, { "id": "MONDO:0014364", "name": "mitochondrial complex III deficiency, nuclear type 8" }, { "id": "MIM:615838", "name": "Mitochondrial complex III deficiency, nuclear type 8" } ], "record_url": "http://disease-ontology.org/term/DOID:0080117", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080118", "disease_id": "DOID:0080118", "recommended_name": "mitochondrial complex III deficiency nuclear type 9", "synonyms": [ { "id": "MONDO:0014496", "name": "mitochondrial complex III deficiency nuclear type 9" }, { "id": "MONDO:0014496", "name": "UQCC3 mitochondrial complex III deficiency" }, { "id": "MONDO:0014496", "name": "mitochondrial complex III deficiency caused by mutation in UQCC3" }, { "id": "MONDO:0014496", "name": "MC3DN9" }, { "id": "MONDO:0014496", "name": "mitochondrial complex III deficiency, nuclear type 9" }, { "id": "MIM:616111", "name": "Mitochondrial complex III deficiency, nuclear type 9" } ], "record_url": "http://disease-ontology.org/term/DOID:0080118", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080119", "disease_id": "DOID:0080119", "recommended_name": "mitochondrial DNA depletion syndrome 1", "synonyms": [ { "id": "DOID:0080119", "name": "mitochondrial DNA depletion syndrome 1 (MNGIE type)" }, { "id": "DOID:0080119", "name": "mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related" }, { "id": "MONDO:0011283", "name": "mitochondrial DNA depletion syndrome 1" }, { "id": "MONDO:0011283", "name": "mitochondrial DNA depletion syndrome 1" }, { "id": "MONDO:0011283", "name": "mitochondrial DNA depletion syndrome type 1" }, { "id": "MONDO:0011283", "name": "MTDPS1" }, { "id": "MONDO:0011283", "name": "mitochondrial DNA depletion syndrome 1 (MNGIE type)" }, { "id": "MIM:603041", "name": "Mitochondrial DNA depletion syndrome 1, MNGIE type" } ], "record_url": "http://disease-ontology.org/term/DOID:0080119", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080120", "disease_id": "DOID:0080120", "recommended_name": "mitochondrial DNA depletion syndrome 2", "synonyms": [ { "id": "DOID:0080120", "name": "TK2-related mitochondrial DNA depletion syndrome, myopathic form" }, { "id": "MONDO:0012301", "name": "mitochondrial DNA depletion syndrome, myopathic form" }, { "id": "MONDO:0012301", "name": "thymidine kinase 2 deficiency" }, { "id": "MONDO:0012301", "name": "mitochondrial DNA depletion syndrome type 2" }, { "id": "MONDO:0012301", "name": "mtDNA depletion syndrome, myopathic form" }, { "id": "MONDO:0012301", "name": "MTDPS2" }, { "id": "MONDO:0012301", "name": "mitochondrial DNA depletion syndrome 2 (myopathic type)" }, { "id": "MIM:609560", "name": "Mitochondrial DNA depletion syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080120", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080121", "disease_id": "DOID:0080121", "recommended_name": "mitochondrial DNA depletion syndrome 3", "synonyms": [ { "id": "DOID:0080121", "name": "deoxyguanosine kinase deficiency" }, { "id": "MONDO:0009636", "name": "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)" }, { "id": "MONDO:0009636", "name": "DGUOK mitochondrial DNA depletion syndrome" }, { "id": "MONDO:0009636", "name": "mitochondrial DNA depletion syndrome 3" }, { "id": "MONDO:0009636", "name": "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)" }, { "id": "MONDO:0009636", "name": "mitochondrial DNA depletion syndrome caused by mutation in DGUOK" }, { "id": "MONDO:0009636", "name": "mitochondrial DNA depletion syndrome type 3" }, { "id": "MONDO:0009636", "name": "MTDPS3" }, { "id": "MIM:251880", "name": "Mitochondrial DNA depletion syndrome 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080121", "snv_count": 0, "protein_count": 27, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080122", "disease_id": "DOID:0080122", "recommended_name": "Alpers-Huttenlocher syndrome", "synonyms": [ { "id": "DOID:0080122", "name": "Alper's syndrome" }, { "id": "DOID:0080122", "name": "Alpers disease" }, { "id": "DOID:0080122", "name": "Alpers progressive infantile poliodystrophy" }, { "id": "DOID:0080122", "name": "Alpers syndrome" }, { "id": "DOID:0080122", "name": "Alpers' disease or gray-matter degeneration" }, { "id": "DOID:0080122", "name": "progressive sclerosing poliodystrophy" }, { "id": "DOID:0080122", "name": "Diffuse Cerebral Sclerosis of Schilder" }, { "id": "DOID:0080122", "name": "mitochondrial DNA depletion syndrome 4a" }, { "id": "DOID:0080122", "name": "Polg disease" }, { "id": "MONDO:0008758", "name": "mitochondrial DNA depletion syndrome 4a" }, { "id": "MONDO:0008758", "name": "AHD" }, { "id": "MONDO:0008758", "name": "AHS" }, { "id": "MONDO:0008758", "name": "Alper syndrome" }, { "id": "MONDO:0008758", "name": "Alper's disease" }, { "id": "MONDO:0008758", "name": "Alper's syndrome" }, { "id": "MONDO:0008758", "name": "Alpers Disease" }, { "id": "MONDO:0008758", "name": "Alpers Huttenlocher disease" }, { "id": "MONDO:0008758", "name": "Alpers Huttenlocher syndrome" }, { "id": "MONDO:0008758", "name": "Alpers disease" }, { "id": "MONDO:0008758", "name": "Alpers progressive infantile poliodystrophy" }, { "id": "MONDO:0008758", "name": "Alpers progressive sclerosing poliodystrophy" }, { "id": "MONDO:0008758", "name": "Alpers syndrome" }, { "id": "MONDO:0008758", "name": "Alpers-Huttenlocher" }, { "id": "MONDO:0008758", "name": "Alpers-Huttenlocher syndrome" }, { "id": "MONDO:0008758", "name": "mitochondrial DNA depletion syndrome 4A" }, { "id": "MONDO:0008758", "name": "mitochondrial DNA depletion syndrome type 4a" }, { "id": "MONDO:0008758", "name": "progressive neuronal degeneration of childhood with liver disease" }, { "id": "MONDO:0008758", "name": "Alpers diffuse Degeneration of cerebral Grey matter with hepatic cirrhosis" }, { "id": "MONDO:0008758", "name": "MTDPS4A" }, { "id": "MONDO:0008758", "name": "PNDC" }, { "id": "MONDO:0008758", "name": "Poliodystrophia cerebri progressiva" }, { "id": "MONDO:0008758", "name": "diffuse cerebral degeneration in infancy" }, { "id": "MONDO:0008758", "name": "infantile poliodystrophy" }, { "id": "MONDO:0008758", "name": "mitochondrial DNA depletion syndrome 4A (Alpers type)" }, { "id": "MONDO:0008758", "name": "progressive cerebral poliodystrophy" }, { "id": "MIM:203700", "name": "Mitochondrial DNA depletion syndrome 4A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080122", "snv_count": 0, "protein_count": 15, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080123", "disease_id": "DOID:0080123", "recommended_name": "mitochondrial DNA depletion syndrome 4b", "synonyms": [ { "id": "DOID:0080123", "name": "mitochondrial neurogastrointestinal encephalopathy syndrome" }, { "id": "MONDO:0013350", "name": "mitochondrial DNA depletion syndrome 4b" }, { "id": "MONDO:0013350", "name": "mitochondrial DNA depletion syndrome type 4b" }, { "id": "MONDO:0013350", "name": "MTDPS4B" }, { "id": "MONDO:0013350", "name": "mitochondrial DNA depletion syndrome 4B (MNGIE type)" }, { "id": "MIM:613662", "name": "Mitochondrial DNA depletion syndrome 4B" } ], "record_url": "http://disease-ontology.org/term/DOID:0080123", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080124", "disease_id": "DOID:0080124", "recommended_name": "mitochondrial DNA depletion syndrome 5", "synonyms": [ { "id": "DOID:0080124", "name": "succinate-CoA ligase deficiency" }, { "id": "MONDO:0012791", "name": "mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" }, { "id": "MONDO:0012791", "name": "booth-Haworth-Dilling syndrome" }, { "id": "MONDO:0012791", "name": "mitochondrial DNA depletion syndrome 5" }, { "id": "MONDO:0012791", "name": "mitochondrial DNA depletion syndrome type 5" }, { "id": "MONDO:0012791", "name": "mitochondrial encephalomyopathy-aminoacidopathy syndrome" }, { "id": "MONDO:0012791", "name": "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" }, { "id": "MONDO:0012791", "name": "MTDPS5" }, { "id": "MONDO:0012791", "name": "encephalomyopathy" }, { "id": "MONDO:0012791", "name": "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)" }, { "id": "MONDO:0012791", "name": "mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive" }, { "id": "MONDO:0012791", "name": "mitochondrial encephalomyopathy aminoacidopathy" }, { "id": "MIM:612073", "name": "Mitochondrial DNA depletion syndrome 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0080124", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101010" }, { "record_id": "doid.0080125", "disease_id": "DOID:0080125", "recommended_name": "mitochondrial DNA depletion syndrome 6", "synonyms": [ { "id": "DOID:0080125", "name": "Navajo neurohepatopathy" }, { "id": "DOID:0080125", "name": "MPV17-related hepatocerebral mitochondrial DNA depletion syndrome" }, { "id": "MONDO:0009747", "name": "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)" }, { "id": "MONDO:0009747", "name": "Navajo neurohepatopathy" }, { "id": "MONDO:0009747", "name": "Navajo neuropathy" }, { "id": "MONDO:0009747", "name": "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)" }, { "id": "MONDO:0009747", "name": "MPV17-related hepatocerebral mitochondrial DNA depletion syndrome" }, { "id": "MONDO:0009747", "name": "MTDPS6" }, { "id": "MONDO:0009747", "name": "NN" }, { "id": "MONDO:0009747", "name": "mitochondrial DNA depletion syndrome 6" }, { "id": "MIM:256810", "name": "Mitochondrial DNA depletion syndrome 6" } ], "record_url": "http://disease-ontology.org/term/DOID:0080125", "snv_count": 0, "protein_count": 22, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.3, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080126", "disease_id": "DOID:0080126", "recommended_name": "mitochondrial DNA depletion syndrome 7", "synonyms": [ { "id": "DOID:0080126", "name": "OHAHA SYNDROME" }, { "id": "DOID:0080126", "name": "infantile onset spinocerebellar ataxia" }, { "id": "MONDO:0010060", "name": "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)" }, { "id": "MONDO:0010060", "name": "IOSCA" }, { "id": "MONDO:0010060", "name": "OHAHA syndrome" }, { "id": "MONDO:0010060", "name": "Ohaha syndrome" }, { "id": "MONDO:0010060", "name": "TWNK autosomal recessive degenerative and progressive cerebellar ataxia" }, { "id": "MONDO:0010060", "name": "autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK" }, { "id": "MONDO:0010060", "name": "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)" }, { "id": "MONDO:0010060", "name": "mitochondrial DNA depletion syndrome type 7" }, { "id": "MONDO:0010060", "name": "ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome" }, { "id": "MONDO:0010060", "name": "MTDPS7" }, { "id": "MONDO:0010060", "name": "SCA8 (formerly)" }, { "id": "MONDO:0010060", "name": "ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis" }, { "id": "MONDO:0010060", "name": "ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis" }, { "id": "MONDO:0010060", "name": "spinocerebellar ataxia 8" }, { "id": "MONDO:0010060", "name": "spinocerebellar ataxia 8 (formerly)" }, { "id": "MONDO:0010060", "name": "spinocerebellar ataxia infantile with sensory neuropathy" }, { "id": "MIM:271245", "name": "Mitochondrial DNA depletion syndrome 7" } ], "record_url": "http://disease-ontology.org/term/DOID:0080126", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080127", "disease_id": "DOID:0080127", "recommended_name": "mitochondrial DNA depletion syndrome 8a", "synonyms": [ { "id": "DOID:0080127", "name": "RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy" }, { "id": "MONDO:0012792", "name": "mitochondrial DNA depletion syndrome 8a" }, { "id": "MONDO:0012792", "name": "RRM2B mitochondrial DNA depletion syndrome" }, { "id": "MONDO:0012792", "name": "mitochondrial DNA depletion syndrome caused by mutation in RRM2B" }, { "id": "MONDO:0012792", "name": "mitochondrial DNA depletion syndrome type 8a" }, { "id": "MONDO:0012792", "name": "mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy" }, { "id": "MONDO:0012792", "name": "MTDPS8A" }, { "id": "MONDO:0012792", "name": "RRM2B-related mitochondrial DNA depletion syndrome" }, { "id": "MONDO:0012792", "name": "encephalomyopathic type with renal tubulopathy" }, { "id": "MONDO:0012792", "name": "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)" }, { "id": "MIM:612075", "name": "Mitochondrial DNA depletion syndrome 8A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080127", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080128", "disease_id": "DOID:0080128", "recommended_name": "mitochondrial DNA depletion syndrome 9", "synonyms": [ { "id": "DOID:0080128", "name": "fatal infantile lactic acidosis" }, { "id": "MONDO:0009504", "name": "mitochondrial DNA depletion syndrome 9" }, { "id": "MONDO:0009504", "name": "succinate-CoA ligase deficiency" }, { "id": "MONDO:0009504", "name": "SUCLG1 mitochondrial DNA depletion syndrome" }, { "id": "MONDO:0009504", "name": "mitochondrial DNA depletion syndrome 9" }, { "id": "MONDO:0009504", "name": "mitochondrial DNA depletion syndrome caused by mutation in SUCLG1" }, { "id": "MONDO:0009504", "name": "mitochondrial DNA depletion syndrome type 9" }, { "id": "MONDO:0009504", "name": "MTDPS9" }, { "id": "MONDO:0009504", "name": "lactic acidosis congenital infantile" }, { "id": "MONDO:0009504", "name": "lactic acidosis, fatal infantile" }, { "id": "MONDO:0009504", "name": "mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)" }, { "id": "MIM:245400", "name": "Mitochondrial DNA depletion syndrome 9" } ], "record_url": "http://disease-ontology.org/term/DOID:0080128", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080129", "disease_id": "DOID:0080129", "recommended_name": "mitochondrial DNA depletion syndrome 11", "synonyms": [ { "id": "DOID:0080129", "name": "progressive external ophthalmoplegia-myopathy-emaciation syndrome" }, { "id": "MONDO:0014039", "name": "mitochondrial DNA depletion syndrome 11" }, { "id": "MONDO:0014039", "name": "MGME1 mitochondrial DNA depletion syndrome" }, { "id": "MONDO:0014039", "name": "PEO-myopathy-emaciation syndrome" }, { "id": "MONDO:0014039", "name": "mitochondrial DNA depletion syndrome 11" }, { "id": "MONDO:0014039", "name": "mitochondrial DNA depletion syndrome caused by mutation in MGME1" }, { "id": "MONDO:0014039", "name": "mitochondrial DNA depletion syndrome type 11" }, { "id": "MONDO:0014039", "name": "mitochondrial DNA maintenance syndrome due to MGME1 deficiency" }, { "id": "MONDO:0014039", "name": "mtDNA maintenance syndrome due to MGME1 deficiency" }, { "id": "MONDO:0014039", "name": "MTDPS11" }, { "id": "MIM:615084", "name": "Mitochondrial DNA depletion syndrome 11" } ], "record_url": "http://disease-ontology.org/term/DOID:0080129", "snv_count": 0, "protein_count": 2, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.3, "record_type": "disease", "filter_code": "0000000.100.000000000001100000" }, { "record_id": "doid.0080130", "disease_id": "DOID:0080130", "recommended_name": "mitochondrial DNA depletion syndrome 12a", "synonyms": [ { "id": "MONDO:0014959", "name": "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant" }, { "id": "MONDO:0014959", "name": "MTDPS12A" }, { "id": "MONDO:0014959", "name": "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD" }, { "id": "MONDO:0014959", "name": "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant" }, { "id": "MONDO:0014959", "name": "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A" }, { "id": "MIM:617184", "name": "Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type" } ], "record_url": "http://disease-ontology.org/term/DOID:0080130", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080131", "disease_id": "DOID:0080131", "recommended_name": "mitochondrial DNA depletion syndrome 13", "synonyms": [ { "id": "DOID:0080131", "name": "FBXL4 deficiency" }, { "id": "DOID:0080131", "name": "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome" }, { "id": "DOID:0080131", "name": "mitochondrial DNA depletion syndrome 13, encephalomyopathic type" }, { "id": "MONDO:0014198", "name": "mitochondrial DNA depletion syndrome 13" }, { "id": "MONDO:0014198", "name": "FBXL4 mitochondrial DNA depletion syndrome" }, { "id": "MONDO:0014198", "name": "mitochondrial DNA depletion syndrome caused by mutation in FBXL4" }, { "id": "MONDO:0014198", "name": "mitochondrial DNA depletion syndrome type 13" }, { "id": "MONDO:0014198", "name": "mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" }, { "id": "MONDO:0014198", "name": "BXL4-related early-onset mitochondrial encephalopathy" }, { "id": "MONDO:0014198", "name": "FBXL4 deficiency" }, { "id": "MONDO:0014198", "name": "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome" }, { "id": "MONDO:0014198", "name": "MTDPS13" }, { "id": "MONDO:0014198", "name": "encephalomyopathic mitochondrial DNA depletion syndrome-13" }, { "id": "MONDO:0014198", "name": "mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)" }, { "id": "MIM:615471", "name": "Mitochondrial DNA depletion syndrome 13" } ], "record_url": "http://disease-ontology.org/term/DOID:0080131", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080132", "disease_id": "DOID:0080132", "recommended_name": "Sengers syndrome", "synonyms": [ { "id": "DOID:0080132", "name": "mitochondrial DNA depletion syndrome 10" }, { "id": "DOID:0080132", "name": "mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)" }, { "id": "MONDO:0008922", "name": "Sengers syndrome" }, { "id": "MONDO:0008922", "name": "Sengers syndrome" }, { "id": "MONDO:0008922", "name": "mitochondrial DNA depletion syndrome 10" }, { "id": "MONDO:0008922", "name": "cardiomyopathic mitochondrial DNA depletion syndrome 10" }, { "id": "MONDO:0008922", "name": "cataract and cardiomyopathy" }, { "id": "MIM:212350", "name": "Mitochondrial DNA depletion syndrome 10" } ], "record_url": "http://disease-ontology.org/term/DOID:0080132", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080133", "disease_id": "DOID:0080133", "recommended_name": "multiple mitochondrial dysfunctions syndrome 1", "synonyms": [ { "id": "DOID:0080133", "name": "NFU1 deficiency" }, { "id": "MONDO:0011582", "name": "multiple mitochondrial dysfunctions syndrome 1" }, { "id": "MONDO:0011582", "name": "Mmds" }, { "id": "MONDO:0011582", "name": "NFU1 deficiency" }, { "id": "MONDO:0011582", "name": "NFU1 fatal multiple mitochondrial dysfunctions syndrome" }, { "id": "MONDO:0011582", "name": "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1" }, { "id": "MONDO:0011582", "name": "multiple mitochondrial dysfunctions syndrome 1" }, { "id": "MONDO:0011582", "name": "multiple mitochondrial dysfunctions syndrome type 1" }, { "id": "MONDO:0011582", "name": "MMDS1" }, { "id": "MIM:605711", "name": "Multiple mitochondrial dysfunctions syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080133", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080134", "disease_id": "DOID:0080134", "recommended_name": "multiple mitochondrial dysfunctions syndrome 2", "synonyms": [ { "id": "DOID:0080134", "name": "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia" }, { "id": "DOID:0080134", "name": "BOLA3 deficiency" }, { "id": "MONDO:0013675", "name": "multiple mitochondrial dysfunctions syndrome 2" }, { "id": "MONDO:0013675", "name": "BOLA3 deficiency" }, { "id": "MONDO:0013675", "name": "BOLA3 fatal multiple mitochondrial dysfunctions syndrome" }, { "id": "MONDO:0013675", "name": "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3" }, { "id": "MONDO:0013675", "name": "multiple mitochondrial dysfunctions syndrome 2" }, { "id": "MONDO:0013675", "name": "multiple mitochondrial dysfunctions syndrome type 2" }, { "id": "MONDO:0013675", "name": "MMDS2" }, { "id": "MIM:614299", "name": "Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia" } ], "record_url": "http://disease-ontology.org/term/DOID:0080134", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101010" }, { "record_id": "doid.0080135", "disease_id": "DOID:0080135", "recommended_name": "multiple mitochondrial dysfunctions syndrome 3", "synonyms": [ { "id": "DOID:0080135", "name": "IBA57 deficiency" }, { "id": "MONDO:0014132", "name": "multiple mitochondrial dysfunctions syndrome 3" }, { "id": "MONDO:0014132", "name": "IBA57 deficiency" }, { "id": "MONDO:0014132", "name": "IBA57 fatal multiple mitochondrial dysfunctions syndrome" }, { "id": "MONDO:0014132", "name": "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57" }, { "id": "MONDO:0014132", "name": "multiple mitochondrial dysfunctions syndrome 3" }, { "id": "MONDO:0014132", "name": "multiple mitochondrial dysfunctions syndrome type 3" }, { "id": "MONDO:0014132", "name": "MMDS3" }, { "id": "MIM:615330", "name": "Multiple mitochondrial dysfunctions syndrome 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080135", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080136", "disease_id": "DOID:0080136", "recommended_name": "multiple mitochondrial dysfunctions syndrome 4", "synonyms": [ { "id": "MONDO:0014611", "name": "multiple mitochondrial dysfunctions syndrome 4" }, { "id": "MONDO:0014611", "name": "ISCA2 fatal multiple mitochondrial dysfunctions syndrome" }, { "id": "MONDO:0014611", "name": "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2" }, { "id": "MONDO:0014611", "name": "multiple mitochondrial dysfunctions syndrome 4" }, { "id": "MONDO:0014611", "name": "multiple mitochondrial dysfunctions syndrome type 4" }, { "id": "MONDO:0014611", "name": "MMDS4" }, { "id": "MIM:616370", "name": "Multiple mitochondrial dysfunctions syndrome 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080136", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080137", "disease_id": "DOID:0080137", "recommended_name": "multiple endocrine neoplasia type 4", "synonyms": [ { "id": "DOID:0080137", "name": "Multiple Endocrine Neoplasia, Type IV" }, { "id": "MONDO:0012552", "name": "multiple endocrine neoplasia type 4" }, { "id": "MONDO:0012552", "name": "CDKN1B multiple endocrine neoplasia" }, { "id": "MONDO:0012552", "name": "MEN4" }, { "id": "MONDO:0012552", "name": "multiple endocrine neoplasia caused by mutation in CDKN1B" }, { "id": "MONDO:0012552", "name": "multiple endocrine neoplasia type 4" }, { "id": "MONDO:0012552", "name": "multiple endocrine neoplasia, type IV" }, { "id": "MIM:610755", "name": "Multiple endocrine neoplasia 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080137", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080138", "disease_id": "DOID:0080138", "recommended_name": "multiple congenital anomalies-hypotonia-seizures syndrome 1", "synonyms": [ { "id": "MONDO:0013563", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1" }, { "id": "MONDO:0013563", "name": "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability" }, { "id": "MONDO:0013563", "name": "PIGN-CDG" }, { "id": "MONDO:0013563", "name": "congenital disorder of glycosylation due to PIGN deficiency" }, { "id": "MONDO:0013563", "name": "inherited GPI anchor-deficiency" }, { "id": "MONDO:0013563", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1" }, { "id": "MONDO:0013563", "name": "multiple congenital anomalies-hypotonia-seizures syndrome type 1" }, { "id": "MONDO:0013563", "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN" }, { "id": "MONDO:0013563", "name": "PIGN-related inherited GPI deficiency" }, { "id": "MONDO:0013563", "name": "MCAHS1" }, { "id": "MONDO:0013563", "name": "multiple congenital anomalies - hypotonia - seizures syndrome" }, { "id": "MIM:614080", "name": "Multiple congenital anomalies-hypotonia-seizures syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080138", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080139", "disease_id": "DOID:0080139", "recommended_name": "multiple congenital anomalies-hypotonia-seizures syndrome 2", "synonyms": [ { "id": "DOID:0080139", "name": "early infantile epileptic encephalopathy 20" }, { "id": "DOID:0080139", "name": "glycosylphosphatidylinositol biosynthesis defect 4" }, { "id": "DOID:0080139", "name": "developmental and epileptic encephalopathy 20" }, { "id": "MONDO:0010466", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 2" }, { "id": "MONDO:0010466", "name": "DEE20" }, { "id": "MONDO:0010466", "name": "GPIBD4" }, { "id": "MONDO:0010466", "name": "MCAHS type 2" }, { "id": "MONDO:0010466", "name": "MCAHS2" }, { "id": "MONDO:0010466", "name": "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability" }, { "id": "MONDO:0010466", "name": "developmental and epileptic encephalopathy 20" }, { "id": "MONDO:0010466", "name": "epileptic encephalopathy, early infantile, 20" }, { "id": "MONDO:0010466", "name": "glycosylphosphatidylinositol biosynthesis defect 4" }, { "id": "MONDO:0010466", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 2" }, { "id": "MONDO:0010466", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive" }, { "id": "MONDO:0010466", "name": "multiple congenital anomalies-hypotonia-seizures syndrome type 2" }, { "id": "MONDO:0010466", "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA" }, { "id": "MIM:300868", "name": "Multiple congenital anomalies-hypotonia-seizures syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080139", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080140", "disease_id": "DOID:0080140", "recommended_name": "multiple congenital anomalies-hypotonia-seizures syndrome 3", "synonyms": [ { "id": "DOID:0080140", "name": "M syndrome" }, { "id": "DOID:0080140", "name": "light fixation seizure syndrome" }, { "id": "MONDO:0014165", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 3" }, { "id": "MONDO:0014165", "name": "LFSS" }, { "id": "MONDO:0014165", "name": "MCAHS type 3" }, { "id": "MONDO:0014165", "name": "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability" }, { "id": "MONDO:0014165", "name": "PIGT-CDG" }, { "id": "MONDO:0014165", "name": "congenital disorder of glycosylation due to PIGT deficiency" }, { "id": "MONDO:0014165", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 3" }, { "id": "MONDO:0014165", "name": "multiple congenital anomalies-hypotonia-seizures syndrome type 3" }, { "id": "MONDO:0014165", "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT" }, { "id": "MONDO:0014165", "name": "MCAHS3" }, { "id": "MONDO:0014165", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 3" }, { "id": "MONDO:0014165", "name": "LFSS" }, { "id": "MONDO:0014165", "name": "MCAHS type 3" }, { "id": "MONDO:0014165", "name": "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability" }, { "id": "MONDO:0014165", "name": "PIGT-CDG" }, { "id": "MONDO:0014165", "name": "congenital disorder of glycosylation due to PIGT deficiency" }, { "id": "MONDO:0014165", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 3" }, { "id": "MONDO:0014165", "name": "multiple congenital anomalies-hypotonia-seizures syndrome type 3" }, { "id": "MONDO:0014165", "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT" }, { "id": "MONDO:0014165", "name": "MCAHS3" }, { "id": "MIM:615398", "name": "Multiple congenital anomalies-hypotonia-seizures syndrome 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080140", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080141", "disease_id": "DOID:0080141", "recommended_name": "mosaic variegated aneuploidy syndrome 1", "synonyms": [ { "id": "MONDO:0009759", "name": "mosaic variegated aneuploidy syndrome 1" }, { "id": "MONDO:0009759", "name": "BUB1B mosaic variegated aneuploidy syndrome" }, { "id": "MONDO:0009759", "name": "Mosaic variegated aneuploidy syndrome type 1" }, { "id": "MONDO:0009759", "name": "mosaic variegated aneuploidy syndrome 1" }, { "id": "MONDO:0009759", "name": "mosaic variegated aneuploidy syndrome caused by mutation in BUB1B" }, { "id": "MONDO:0009759", "name": "mosaic variegated aneuploidy syndrome type 1" }, { "id": "MONDO:0009759", "name": "MVA1" }, { "id": "MIM:257300", "name": "Mosaic variegated aneuploidy syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080141", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080142", "disease_id": "DOID:0080142", "recommended_name": "mosaic variegated aneuploidy syndrome 2", "synonyms": [ { "id": "MONDO:0013582", "name": "mosaic variegated aneuploidy syndrome 2" }, { "id": "MONDO:0013582", "name": "CEP57 mosaic variegated aneuploidy syndrome" }, { "id": "MONDO:0013582", "name": "Mosaic variegated aneuploidy syndrome type 2" }, { "id": "MONDO:0013582", "name": "mosaic variegated aneuploidy syndrome 2" }, { "id": "MONDO:0013582", "name": "mosaic variegated aneuploidy syndrome caused by mutation in CEP57" }, { "id": "MONDO:0013582", "name": "mosaic variegated aneuploidy syndrome type 2" }, { "id": "MONDO:0013582", "name": "MVA2" }, { "id": "MIM:614114", "name": "Mosaic variegated aneuploidy syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080142", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080143", "disease_id": "DOID:0080143", "recommended_name": "congenital fibrosis of the extraocular muscles", "synonyms": [ { "id": "MONDO:0021083", "name": "congenital fibrosis of extraocular muscles type 1" }, { "id": "MONDO:0021083", "name": "CFEOM1" }, { "id": "MONDO:0021083", "name": "KIF21A congenital fibrosis of extraocular muscles" }, { "id": "MONDO:0021083", "name": "congenital fibrosis of extraocular muscles caused by mutation in KIF21A" }, { "id": "MONDO:0021083", "name": "fibrosis of extraocular muscles, congenital, 1" }, { "id": "MIM:135700", "name": "Fibrosis of extraocular muscles, congenital, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080143", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080144", "disease_id": "DOID:0080144", "recommended_name": "childhood acute lymphocytic leukemia", "synonyms": [ { "id": "DOID:0080144", "name": "Childhood Acute Lymphoblastic Leukemia" } ], "record_url": "http://disease-ontology.org/term/DOID:0080144", "snv_count": 0, "protein_count": 12, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.3, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080150", "disease_id": "DOID:0080150", "recommended_name": "adrenocorticotropic hormone deficiency", "synonyms": [ { "id": "MONDO:0008720", "name": "congenital isolated adrenocorticotropic hormone deficiency" }, { "id": "MONDO:0008720", "name": "adrenocorticotropic hormone deficiency" }, { "id": "MONDO:0008720", "name": "congenital isolated adrenocorticotropic hormone deficiency (disease)" }, { "id": "MONDO:0008720", "name": "ACTH deficiency, isolated" }, { "id": "MONDO:0008720", "name": "IAD" }, { "id": "MONDO:0008720", "name": "isolated ACTH deficiency" }, { "id": "MONDO:0008720", "name": "isolated adrenocorticotropic hormone deficiency" }, { "id": "MIM:201400", "name": "ACTH deficiency, isolated" } ], "record_url": "http://disease-ontology.org/term/DOID:0080150", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080153", "disease_id": "DOID:0080153", "recommended_name": "medium chain acyl-CoA dehydrogenase deficiency", "synonyms": [ { "id": "MONDO:0008721", "name": "medium chain acyl-CoA dehydrogenase deficiency" }, { "id": "MONDO:0008721", "name": "ACADM deficiency" }, { "id": "MONDO:0008721", "name": "Acyl-CoA dehydrogenase, medium chain, deficiency of" }, { "id": "MONDO:0008721", "name": "Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency" }, { "id": "MONDO:0008721", "name": "MCAD" }, { "id": "MONDO:0008721", "name": "MCAD deficiency" }, { "id": "MONDO:0008721", "name": "MCADD" }, { "id": "MONDO:0008721", "name": "acyl-CoA dehydrogenase, medium-chain deficiency" }, { "id": "MONDO:0008721", "name": "medium chain acyl-CoA dehydrogenase deficiency" }, { "id": "MONDO:0008721", "name": "medium chain acyl-coenzyme A dehydrogenase deficiency" }, { "id": "MONDO:0008721", "name": "medium-chain acyl-CoA dehydrogenase deficiency" }, { "id": "MONDO:0008721", "name": "medium-chain acyl-Coenzyme A dehydrogenase deficiency" }, { "id": "MONDO:0008721", "name": "ACADMD" }, { "id": "MONDO:0008721", "name": "acyl-CoA dehydrogenase medium chain deficiency of" }, { "id": "MONDO:0008721", "name": "acyl-CoA dehydrogenase, medium-chain, deficiency OF" }, { "id": "MONDO:0008721", "name": "medium chain acyl CoA dehydrogenase deficiency" }, { "id": "MIM:201450", "name": "Acyl-CoA dehydrogenase medium-chain deficiency" } ], "record_url": "http://disease-ontology.org/term/DOID:0080153", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080154", "disease_id": "DOID:0080154", "recommended_name": "short chain acyl-CoA dehydrogenase deficiency", "synonyms": [ { "id": "MONDO:0008722", "name": "short chain acyl-CoA dehydrogenase deficiency" }, { "id": "MONDO:0008722", "name": "ACADS deficiency" }, { "id": "MONDO:0008722", "name": "SCAD" }, { "id": "MONDO:0008722", "name": "SCAD deficiency" }, { "id": "MONDO:0008722", "name": "SCADD" }, { "id": "MONDO:0008722", "name": "Short Chain Acyl CoA Dehydrogenase Deficiency" }, { "id": "MONDO:0008722", "name": "acyl-CoA dehydrogenase, short-chain deficiency" }, { "id": "MONDO:0008722", "name": "short chain acyl-CoA dehydrogenase deficiency" }, { "id": "MONDO:0008722", "name": "short-chain acyl-CoA dehydrogenase deficiency (SCAD)" }, { "id": "MONDO:0008722", "name": "short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)" }, { "id": "MONDO:0008722", "name": "ACADSD" }, { "id": "MONDO:0008722", "name": "acyl-CoA dehydrogenase, short-chain, deficiency OF" }, { "id": "MONDO:0008722", "name": "short-chain acyl-CoA dehydrogenase deficiency" }, { "id": "MONDO:0008722", "name": "short-chain acyl-coenzyme A dehydrogenase deficiency" }, { "id": "MIM:201470", "name": "Acyl-CoA dehydrogenase short-chain deficiency" } ], "record_url": "http://disease-ontology.org/term/DOID:0080154", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080155", "disease_id": "DOID:0080155", "recommended_name": "very long chain acyl-CoA dehydrogenase deficiency", "synonyms": [ { "id": "DOID:0080155", "name": "VLCAD deficiency" }, { "id": "MONDO:0008723", "name": "very long chain acyl-CoA dehydrogenase deficiency" }, { "id": "MONDO:0008723", "name": "VLCAD" }, { "id": "MONDO:0008723", "name": "VLCAD deficiency" }, { "id": "MONDO:0008723", "name": "VLCADD" }, { "id": "MONDO:0008723", "name": "Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)" }, { "id": "MONDO:0008723", "name": "acyl-CoA dehydrogenase, very long-chain deficiency" }, { "id": "MONDO:0008723", "name": "very long chain acyl-CoA dehydrogenase deficiency" }, { "id": "MONDO:0008723", "name": "very long-chain acyl-CoA dehydrogenase deficiency" }, { "id": "MONDO:0008723", "name": "very long-chain acyl-Coenzyme A dehydrogenase deficiency" }, { "id": "MONDO:0008723", "name": "ACADVLD" }, { "id": "MONDO:0008723", "name": "acyl-CoA dehydrogenase, very long-chain, deficiency OF" }, { "id": "MIM:201475", "name": "Acyl-CoA dehydrogenase very long-chain deficiency" } ], "record_url": "http://disease-ontology.org/term/DOID:0080155", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080156", "disease_id": "DOID:0080156", "recommended_name": "X-linked adrenal hypoplasia congenita", "synonyms": [ { "id": "DOID:0080156", "name": "congenital adrenal hypoplasia" }, { "id": "MONDO:0010264", "name": "X-linked adrenal hypoplasia congenita" }, { "id": "MONDO:0010264", "name": "AHC" }, { "id": "MONDO:0010264", "name": "adrenal hypoplasia congenita" }, { "id": "MONDO:0010264", "name": "X-linked adrenal hypoplasia congenita" }, { "id": "MONDO:0010264", "name": "X-linked congenital adrenal hypoplasia" }, { "id": "MONDO:0010264", "name": "adrenal hypoplasia, congenital, X-linked recessive" }, { "id": "MONDO:0010264", "name": "X-linked AHC" }, { "id": "MONDO:0010264", "name": "adrenal hypoplasia, congenital" }, { "id": "MIM:300200", "name": "Adrenal hypoplasia, congenital" } ], "record_url": "http://disease-ontology.org/term/DOID:0080156", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080158", "disease_id": "DOID:0080158", "recommended_name": "herpes simplex virus keratitis", "synonyms": [ { "id": "DOID:0080158", "name": "dendritic keratitis" } ], "record_url": "http://disease-ontology.org/term/DOID:0080158", "snv_count": 0, "protein_count": 13, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.4, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080159", "disease_id": "DOID:0080159", "recommended_name": "Cryptococcal meningitis", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080159", "snv_count": 0, "protein_count": 12, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.3, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080160", "disease_id": "DOID:0080160", "recommended_name": "Cytomegalovirus retinitis", "synonyms": [ { "id": "DOID:0080160", "name": "CMV retinitis" } ], "record_url": "http://disease-ontology.org/term/DOID:0080160", "snv_count": 0, "protein_count": 21, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.2, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080162", "disease_id": "DOID:0080162", "recommended_name": "lupus nephritis", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080162", "snv_count": 0, "protein_count": 149, "glycan_count": 0, "biomarker_count": 2, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "BB3874-3;BB3879-2", "hit_score": 15.0, "record_type": "disease", "filter_code": "0000000.101.000000100001101011" }, { "record_id": "doid.0080163", "disease_id": "DOID:0080163", "recommended_name": "autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome", "synonyms": [ { "id": "DOID:0080163", "name": "otulipenia" }, { "id": "DOID:0080163", "name": "ORAS" }, { "id": "DOID:0080163", "name": "OTULIN-related autoinflammatory syndrome" }, { "id": "MONDO:0014912", "name": "autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive" }, { "id": "MONDO:0014912", "name": "AIPDS" }, { "id": "MONDO:0014912", "name": "Autoinflammation, panniculitis, and dermatosis syndrome" }, { "id": "MONDO:0014912", "name": "ORAS" }, { "id": "MONDO:0014912", "name": "autoinflammation, panniculitis and dermatosis syndrome" }, { "id": "MONDO:0014912", "name": "otulin deficiency" }, { "id": "MONDO:0014912", "name": "otulin-related autoinflammatory syndrome" }, { "id": "MONDO:0014912", "name": "otulipenia" }, { "id": "MIM:617099", "name": "Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive" } ], "record_url": "http://disease-ontology.org/term/DOID:0080163", "snv_count": 0, "protein_count": 2, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.3, "record_type": "disease", "filter_code": "0000000.100.000000000001100000" }, { "record_id": "doid.0080169", "disease_id": "DOID:0080169", "recommended_name": "tricuspid atresia", "synonyms": [ { "id": "MONDO:0011514", "name": "tricuspid atresia" }, { "id": "MONDO:0011514", "name": "congenital atresia of tricuspid valve" }, { "id": "MONDO:0011514", "name": "tricuspid atresia" }, { "id": "MONDO:0011514", "name": "tricuspid atresia (disease)" }, { "id": "MONDO:0011514", "name": "tricuspid valve atresia" }, { "id": "MONDO:0011514", "name": "congenital agenesis of the tricuspid valve" } ], "record_url": "http://disease-ontology.org/term/DOID:0080169", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080170", "disease_id": "DOID:0080170", "recommended_name": "normophosphatemic familial tumoral calcinosis", "synonyms": [ { "id": "MONDO:0012502", "name": "normophosphatemic familial tumoral calcinosis" }, { "id": "MONDO:0012502", "name": "normophosphatemic familial tumoral calcinosis" }, { "id": "MONDO:0012502", "name": "tumoral calcinosis, familial, normophosphatemic" }, { "id": "MONDO:0012502", "name": "NFTC" }, { "id": "MONDO:0012502", "name": "tumoral calcinosis, normophosphatemic, familial" }, { "id": "MIM:610455", "name": "Tumoral calcinosis, normophosphatemic, familial" } ], "record_url": "http://disease-ontology.org/term/DOID:0080170", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080171", "disease_id": "DOID:0080171", "recommended_name": "esophageal atresia/tracheoesophageal fistula", "synonyms": [ { "id": "DOID:0080171", "name": "esophageal atresia and/or tracheoesophageal fistula" }, { "id": "DOID:0080171", "name": "tracheoesophageal fistula with or without esohageal atresia" }, { "id": "MONDO:0008586", "name": "esophageal atresia/tracheoesophageal fistula" }, { "id": "MONDO:0008586", "name": "Esophageal Atresia and/or Tracheoesophageal Fistula" }, { "id": "MONDO:0008586", "name": "TEF" }, { "id": "MONDO:0008586", "name": "te fistula" }, { "id": "MONDO:0008586", "name": "tracheoesophageal fistula" } ], "record_url": "http://disease-ontology.org/term/DOID:0080171", "snv_count": 0, "protein_count": 27, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080172", "disease_id": "DOID:0080172", "recommended_name": "poor metabolism of thiopurines", "synonyms": [ { "id": "DOID:0080172", "name": "thiopurine S-methyltransferase deficiency" }, { "id": "DOID:0080172", "name": "TPMT deficiency" }, { "id": "MONDO:0012503", "name": "thiopurine S-methyltransferase deficiency" }, { "id": "MONDO:0012503", "name": "TPMT deficiency" }, { "id": "MONDO:0012503", "name": "inborn error of thiopurine S-methyltransferase activity" }, { "id": "MONDO:0012503", "name": "inborn thiopurine S-methyltransferase activity disorder" }, { "id": "MONDO:0012503", "name": "poor metabolism of thiopurines-1" }, { "id": "MONDO:0012503", "name": "rare inborn error of thiopurine S-methyltransferase activity" }, { "id": "MONDO:0012503", "name": "thiopurine S-methyltransferase deficiency" }, { "id": "MONDO:0012503", "name": "6-mercaptopurine sensitivity" }, { "id": "MONDO:0012503", "name": "THPM1" }, { "id": "MONDO:0012503", "name": "thiopurine S methyltranferase deficiency" }, { "id": "MONDO:0012503", "name": "thiopurine methyltransferase deficiency" } ], "record_url": "http://disease-ontology.org/term/DOID:0080172", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080173", "disease_id": "DOID:0080173", "recommended_name": "bladder exstrophy-epispadias-cloacal exstrophy complex", "synonyms": [ { "id": "DOID:0080173", "name": "exstrophy-epispadias complex" } ], "record_url": "http://disease-ontology.org/term/DOID:0080173", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080174", "disease_id": "DOID:0080174", "recommended_name": "bladder exstrophy", "synonyms": [ { "id": "MONDO:0700039", "name": "bladder exstrophy-epispadias-cloacal exstrophy complex" }, { "id": "MONDO:0700039", "name": "BEEC" } ], "record_url": "http://disease-ontology.org/term/DOID:0080174", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080176", "disease_id": "DOID:0080176", "recommended_name": "meningococcal meningitis", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080176", "snv_count": 0, "protein_count": 32, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 3.3, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080177", "disease_id": "DOID:0080177", "recommended_name": "hepatic veno-occlusive disease", "synonyms": [ { "id": "DOID:0080177", "name": "veno-occlusive disease" } ], "record_url": "http://disease-ontology.org/term/DOID:0080177", "snv_count": 0, "protein_count": 33, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 3.4, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080178", "disease_id": "DOID:0080178", "recommended_name": "mucositis", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080178", "snv_count": 0, "protein_count": 48, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 4.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080179", "disease_id": "DOID:0080179", "recommended_name": "haemophilus meningitis", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080179", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Rat;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080181", "disease_id": "DOID:0080181", "recommended_name": "PHARC syndrome", "synonyms": [ { "id": "DOID:0080181", "name": "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" }, { "id": "MONDO:0012984", "name": "PHARC syndrome" }, { "id": "MONDO:0012984", "name": "PHARC syndrome" }, { "id": "MONDO:0012984", "name": "peripheral neuropathy, Fiskerstrand type" }, { "id": "MONDO:0012984", "name": "PHARC" }, { "id": "MONDO:0012984", "name": "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" }, { "id": "MIM:612674", "name": "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" } ], "record_url": "http://disease-ontology.org/term/DOID:0080181", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080187", "disease_id": "DOID:0080187", "recommended_name": "chronic neutrophilic leukemia", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080187", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Rat;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080188", "disease_id": "DOID:0080188", "recommended_name": "chronic myelomonocytic leukemia", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080188", "snv_count": 0, "protein_count": 29, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 3.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080194", "disease_id": "DOID:0080194", "recommended_name": "Carey-Fineman-Ziter syndrome", "synonyms": [ { "id": "MONDO:0800437", "name": "Carey-Fineman-Ziter syndrome 1" }, { "id": "MONDO:0800437", "name": "CFZS1" }, { "id": "MONDO:0800437", "name": "Carey-Fineman-Ziter syndrome 1" }, { "id": "MONDO:0800437", "name": "myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence" }, { "id": "MONDO:0800437", "name": "myopathy-Moebius-Robin syndrome" }, { "id": "MONDO:0800437", "name": "CFZS" }, { "id": "MONDO:0800437", "name": "Carey Fineman Ziter syndrome" }, { "id": "MONDO:0800437", "name": "Moebius sequence, Robin complex, and hypotonia" }, { "id": "MONDO:0800437", "name": "congenital nonprogressive myopathy with Moebius and Robin sequences" }, { "id": "MONDO:0800437", "name": "myopathy, congenital nonprogressive with Moebius and Robin sequences" }, { "id": "MIM:254940", "name": "Carey-Fineman-Ziter syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080194", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001100001" }, { "record_id": "doid.0080195", "disease_id": "DOID:0080195", "recommended_name": "Marinesco-Sjogren syndrome", "synonyms": [ { "id": "DOID:0080195", "name": "hereditary oligophrenic cerebello-lental degeneration" }, { "id": "DOID:0080195", "name": "Garland-Moorhouse syndrome" }, { "id": "DOID:0080195", "name": "Marinesco-Garland syndrome" }, { "id": "DOID:0080195", "name": "Oligophrenic cerebellolenticular degeneration" }, { "id": "MONDO:0009567", "name": "Marinesco-Sjogren syndrome" }, { "id": "MONDO:0009567", "name": "MSS" }, { "id": "MONDO:0009567", "name": "Marinesco-Sjogren syndrome" }, { "id": "MONDO:0009567", "name": "Marshall Smith Syndrome" }, { "id": "MONDO:0009567", "name": "Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism" }, { "id": "MONDO:0009567", "name": "Marinesco-Sjogren syndrome-myopathy" }, { "id": "MONDO:0009567", "name": "Marinesco-Sjogren-Garland syndrome" }, { "id": "MIM:248800", "name": "Marinesco-Sjoegren syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080195", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080196", "disease_id": "DOID:0080196", "recommended_name": "mandibulofacial dysostosis, Guion-Almeida type", "synonyms": [ { "id": "DOID:0080196", "name": "MFDM syndrome" }, { "id": "DOID:0080196", "name": "mandibulofacial dysostosis with microcephaly" }, { "id": "DOID:0080196", "name": "mandibulofacial dysostosis-microcephaly syndrome" }, { "id": "MONDO:0012516", "name": "mandibulofacial dysostosis-microcephaly syndrome" }, { "id": "MONDO:0012516", "name": "MFDM syndrome" }, { "id": "MONDO:0012516", "name": "mandibulofacial dysostosis with microcephaly" }, { "id": "MONDO:0012516", "name": "mandibulofacial dysostosis, Guion-Almeida type" }, { "id": "MONDO:0012516", "name": "mandibulofacial dysostosis-microcephaly syndrome" }, { "id": "MONDO:0012516", "name": "Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate" }, { "id": "MONDO:0012516", "name": "Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate" }, { "id": "MONDO:0012516", "name": "Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome" }, { "id": "MONDO:0012516", "name": "MFDGA" }, { "id": "MONDO:0012516", "name": "MFDM" }, { "id": "MIM:610536", "name": "Mandibulofacial dysostosis with microcephaly" } ], "record_url": "http://disease-ontology.org/term/DOID:0080196", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080197", "disease_id": "DOID:0080197", "recommended_name": "congenital muscular dystrophy with cataracts and intellectual disability", "synonyms": [ { "id": "DOID:0080197", "name": "congenital muscular dystrophy with cataracts and impaired intellectual development" }, { "id": "MONDO:0024607", "name": "congenital muscular dystrophy with cataracts and intellectual disability" }, { "id": "MONDO:0024607", "name": "MDCCAID" }, { "id": "MIM:617404", "name": "Muscular dystrophy, congenital, with cataracts and impaired intellectual development" } ], "record_url": "http://disease-ontology.org/term/DOID:0080197", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080198", "disease_id": "DOID:0080198", "recommended_name": "infantile histiocytoid cardiomyopathy", "synonyms": [ { "id": "MONDO:0010771", "name": "histiocytoid cardiomyopathy" }, { "id": "MONDO:0010771", "name": "Arachnocytosis of the myocardium" }, { "id": "MONDO:0010771", "name": "Purkinje cell hamartoma" }, { "id": "MONDO:0010771", "name": "congenital cardiomyopathy" }, { "id": "MONDO:0010771", "name": "foamy myocardial transformation of infancy" }, { "id": "MONDO:0010771", "name": "histiocytoid cardiomyopathy" }, { "id": "MONDO:0010771", "name": "infantile cardiomyopathy with histiocytoid change" }, { "id": "MONDO:0010771", "name": "infantile xanthomatous cardiomyopathy" }, { "id": "MONDO:0010771", "name": "isolated Cardiac lipidosis" }, { "id": "MONDO:0010771", "name": "myocardial hamartoma" }, { "id": "MONDO:0010771", "name": "oncocytic cardiomyopathy" }, { "id": "MONDO:0010771", "name": "focal lipid cardiomyopathy" }, { "id": "MONDO:0010771", "name": "infantile histiocytoid cardiomyopathy" }, { "id": "MIM:500000", "name": "Cardiomyopathy, infantile histiocytoid" } ], "record_url": "http://disease-ontology.org/term/DOID:0080198", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0080199", "disease_id": "DOID:0080199", "recommended_name": "colorectal carcinoma", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080199", "snv_count": 0, "protein_count": 339, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 34.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080200", "disease_id": "DOID:0080200", "recommended_name": "bilateral renal aplasia", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080200", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080201", "disease_id": "DOID:0080201", "recommended_name": "Peters plus syndrome", "synonyms": [ { "id": "DOID:0080201", "name": "Krause-Kivlin syndrome" }, { "id": "DOID:0080201", "name": "Peters anomaly-short limb dwarfism syndrome" }, { "id": "DOID:0080201", "name": "Peters-plus syndrome" }, { "id": "MONDO:0009856", "name": "Peters plus syndrome" }, { "id": "MONDO:0009856", "name": "Krause-Kivlin syndrome" }, { "id": "MONDO:0009856", "name": "Krause-van Schooneveld-Kivlin syndrome" }, { "id": "MONDO:0009856", "name": "Peters anomaly with short limb dwarfism" }, { "id": "MONDO:0009856", "name": "Peters-plus syndrome" }, { "id": "MIM:261540", "name": "Peters-plus syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080201", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080202", "disease_id": "DOID:0080202", "recommended_name": "adenoid cystic carcinoma", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080202", "snv_count": 0, "protein_count": 50, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 5.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080204", "disease_id": "DOID:0080204", "recommended_name": "renal hypoplasia", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080204", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080205", "disease_id": "DOID:0080205", "recommended_name": "congenital anomalies of the kidney and urinary tract", "synonyms": [ { "id": "DOID:0080205", "name": "CAKUT" }, { "id": "DOID:0080205", "name": "Renal or urinary tract malformation" }, { "id": "DOID:0080205", "name": "MCDK" }, { "id": "DOID:0080205", "name": "Multicystic kidney dysplasia" }, { "id": "DOID:0080205", "name": "congenital anomalies of kidney and urinary tract" }, { "id": "MONDO:0012561", "name": "congenital anomalies of kidney and urinary tract 1" }, { "id": "MONDO:0012561", "name": "CAKUT1" }, { "id": "MONDO:0012561", "name": "DSTYK congenital anomaly of kidney and urinary tract" }, { "id": "MONDO:0012561", "name": "congenital anomalies of kidney and urinary tract 1" }, { "id": "MONDO:0012561", "name": "congenital anomaly of kidney and urinary tract caused by mutation in DSTYK" }, { "id": "MONDO:0012561", "name": "renal hypodysplasia, nonsyndromic, 1" }, { "id": "MIM:610805", "name": "Congenital anomalies of the kidney and urinary tract 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080205", "snv_count": 0, "protein_count": 34, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 3.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080206", "disease_id": "DOID:0080206", "recommended_name": "congenital anomalies of the kidney and urinary tract 1", "synonyms": [ { "id": "DOID:0080206", "name": "CAKUT1" }, { "id": "DOID:0080206", "name": "congenital anomalies of kidney and urinary tract 1" }, { "id": "MONDO:0012561", "name": "congenital anomalies of kidney and urinary tract 1" }, { "id": "MONDO:0012561", "name": "CAKUT1" }, { "id": "MONDO:0012561", "name": "DSTYK congenital anomaly of kidney and urinary tract" }, { "id": "MONDO:0012561", "name": "congenital anomalies of kidney and urinary tract 1" }, { "id": "MONDO:0012561", "name": "congenital anomaly of kidney and urinary tract caused by mutation in DSTYK" }, { "id": "MONDO:0012561", "name": "renal hypodysplasia, nonsyndromic, 1" }, { "id": "MIM:610805", "name": "Congenital anomalies of the kidney and urinary tract 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080206", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080207", "disease_id": "DOID:0080207", "recommended_name": "congenital anomalies of the kidney and urinary tract 2", "synonyms": [ { "id": "DOID:0080207", "name": "CAKUT2" }, { "id": "DOID:0080207", "name": "Multicystic Dysplastic Kidney" }, { "id": "DOID:0080207", "name": "congenital anomalies of kidney and urinary tract 2" }, { "id": "MONDO:0027676", "name": "congenital anomalies of kidney and urinary tract 2" }, { "id": "MONDO:0027676", "name": "TBX18 congenital anomaly of kidney and urinary tract" }, { "id": "MONDO:0027676", "name": "congenital anomalies of kidney and urinary tract 2" }, { "id": "MONDO:0027676", "name": "congenital anomalies of kidney and urinary tract type 2" }, { "id": "MONDO:0027676", "name": "congenital anomaly of kidney and urinary tract caused by mutation in TBX18" }, { "id": "MONDO:0027676", "name": "CAKUT2" }, { "id": "MIM:143400", "name": "Congenital anomalies of kidney and urinary tract 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080207", "snv_count": 0, "protein_count": 16, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080208", "disease_id": "DOID:0080208", "recommended_name": "metabolic dysfunction-associated steatotic liver disease", "synonyms": [ { "id": "DOID:0080208", "name": "nonalcoholic fatty liver disease" }, { "id": "DOID:0080208", "name": "non-alcoholic fatty liver disease" }, { "id": "DOID:0080208", "name": "NAFLD" }, { "id": "DOID:0080208", "name": "metabolic dysfunction-associated fatty liver disease" }, { "id": "DOID:0080208", "name": "metabolic dysfunction-related steatotic liver disease" }, { "id": "DOID:0080208", "name": "MAFLD" }, { "id": "DOID:0080208", "name": "MASLD" }, { "id": "DOID:0080208", "name": "metabolic-associated fatty liver disease" }, { "id": "MONDO:0013246", "name": "fatty liver disease, nonalcoholic, susceptibility to, 2" }, { "id": "MONDO:0013246", "name": "NAFLD2" }, { "id": "MONDO:0013246", "name": "fatty liver disease, nonalcoholic, susceptibility to, 2" }, { "id": "MONDO:0021105", "name": "NAFLD1" }, { "id": "MONDO:0021105", "name": "NAFLD1" }, { "id": "MONDO:0021105", "name": "fatty liver disease, nonalcoholic, susceptibility to, 1" }, { "id": "MONDO:0021105", "name": "liver disease, alcoholic, susceptibility to, 1" }, { "id": "MIM:613282", "name": "Non-alcoholic fatty liver disease 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080208", "snv_count": 0, "protein_count": 698, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 69.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080209", "disease_id": "DOID:0080209", "recommended_name": "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay", "synonyms": [ { "id": "DOID:0080209", "name": "SIFD" }, { "id": "MONDO:0014487", "name": "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome" }, { "id": "MONDO:0014487", "name": "SIFD" }, { "id": "MONDO:0014487", "name": "SIFD syndrome" }, { "id": "MONDO:0014487", "name": "sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay" }, { "id": "MONDO:0014487", "name": "sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" }, { "id": "MIM:616084", "name": "Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" } ], "record_url": "http://disease-ontology.org/term/DOID:0080209", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080212", "disease_id": "DOID:0080212", "recommended_name": "polycystic kidney disease 4", "synonyms": [ { "id": "DOID:0080212", "name": "pkd3" }, { "id": "DOID:0080212", "name": "polycystic kidney and hepatic disease 1" }, { "id": "DOID:0080212", "name": "polycystic kidney disease, autosomal recessive" }, { "id": "DOID:0080212", "name": "polycystic kidney disease, infantile, type i" }, { "id": "DOID:0080212", "name": "polycystic kidney disease 4 with or without hepatic disease" }, { "id": "MONDO:0033004", "name": "polycystic kidney disease 4" }, { "id": "MONDO:0033004", "name": "polycystic kidney disease 4, with or without hepatic disease" }, { "id": "MONDO:0033004", "name": "PKD3" }, { "id": "MONDO:0033004", "name": "PKD4" }, { "id": "MIM:263200", "name": "Polycystic kidney disease 4, with or without polycystic liver disease" } ], "record_url": "http://disease-ontology.org/term/DOID:0080212", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080214", "disease_id": "DOID:0080214", "recommended_name": "punctate palmoplantar keratoderma type I", "synonyms": [ { "id": "DOID:0080214", "name": "punctate palmoplantar keratoderma type 1A" }, { "id": "DOID:0080214", "name": "punctate palmoplantar keratoderma type 1B" }, { "id": "MONDO:0007858", "name": "palmoplantar keratoderma, punctate type 1A" }, { "id": "MONDO:0007858", "name": "AAGAB punctate palmoplantar keratoderma" }, { "id": "MONDO:0007858", "name": "keratoderma, palmoplantar, punctate type IA" }, { "id": "MONDO:0007858", "name": "palmoplantar keratoderma, punctate type 1A" }, { "id": "MONDO:0007858", "name": "punctate palmoplantar keratoderma caused by mutation in AAGAB" }, { "id": "MONDO:0007858", "name": "PPKP1A" }, { "id": "MONDO:0007858", "name": "palmoplantar keratoderma, punctate type IA" }, { "id": "MONDO:0013980", "name": "palmoplantar keratoderma, punctate type ib" }, { "id": "MONDO:0013980", "name": "PPKP1B" }, { "id": "MONDO:0013980", "name": "keratoderma, palmoplantar, punctate type IB" }, { "id": "MONDO:0013980", "name": "palmoplantar keratoderma, punctate type IB" }, { "id": "MIM:148600", "name": "Keratoderma, palmoplantar, punctate 1A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080214", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080215", "disease_id": "DOID:0080215", "recommended_name": "developmental and epileptic encephalopathy 8", "synonyms": [ { "id": "DOID:0080215", "name": "early infantile epileptic encephalopathy 8" }, { "id": "DOID:0080215", "name": "DEE8" }, { "id": "DOID:0080215", "name": "EIEE8" }, { "id": "MONDO:0010375", "name": "developmental and epileptic encephalopathy, 8" }, { "id": "MONDO:0010375", "name": "DEE8" }, { "id": "MONDO:0010375", "name": "EIEE8" }, { "id": "MONDO:0010375", "name": "developmental and epileptic encephalopathy 8" }, { "id": "MONDO:0010375", "name": "epileptic encephalopathy, early infantile, 8" }, { "id": "MONDO:0010375", "name": "epileptic encephalopathy, early infantile, type 8" }, { "id": "MONDO:0010375", "name": "hyperekplexia-epilepsy syndrome" }, { "id": "MIM:300607", "name": "Developmental and epileptic encephalopathy 8" } ], "record_url": "http://disease-ontology.org/term/DOID:0080215", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080217", "disease_id": "DOID:0080217", "recommended_name": "lysosomal acid lipase deficiency", "synonyms": [ { "id": "DOID:0080217", "name": "LAL deficiency" }, { "id": "DOID:0080217", "name": "LAL-D" }, { "id": "MONDO:0019149", "name": "cholesteryl ester storage disease" }, { "id": "MONDO:0019149", "name": "LAL deficiency, partial" }, { "id": "MONDO:0019149", "name": "LIPA deficiency, partial" }, { "id": "MONDO:0019149", "name": "cholesterol ester hydrolase deficiency, partial" }, { "id": "MONDO:0019149", "name": "cholesterol ester storage disease" }, { "id": "MONDO:0019149", "name": "lysosomal acid lipase deficiency, partial" }, { "id": "MONDO:0019149", "name": "CESD" }, { "id": "MIM:278000", "name": "Cholesteryl ester storage disease" } ], "record_url": "http://disease-ontology.org/term/DOID:0080217", "snv_count": 0, "protein_count": 23, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.4, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080218", "disease_id": "DOID:0080218", "recommended_name": "primary spontaneous pneumothorax", "synonyms": [ { "id": "MONDO:0008259", "name": "familial spontaneous pneumothorax" }, { "id": "MONDO:0008259", "name": "primary spontaneous pneumothorax" }, { "id": "MONDO:0008259", "name": "spontaneous pneumothorax" }, { "id": "MIM:173600", "name": "Primary spontaneous pneumothorax" } ], "record_url": "http://disease-ontology.org/term/DOID:0080218", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080219", "disease_id": "DOID:0080219", "recommended_name": "dystransthyretinemic hyperthyroxinemia", "synonyms": [ { "id": "MONDO:0007785", "name": "hyperthyroxinemia, dystransthyretinemic" }, { "id": "MONDO:0007785", "name": "hyperthyroxinemia, dystransthyretinemic" }, { "id": "MONDO:0007785", "name": "DTTRH" }, { "id": "MIM:145680", "name": "Hyperthyroxinemia, dystransthyretinemic" } ], "record_url": "http://disease-ontology.org/term/DOID:0080219", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080222", "disease_id": "DOID:0080222", "recommended_name": "pseudohypoparathyroidism type 1B", "synonyms": [ { "id": "DOID:0080222", "name": "PHP Ib" }, { "id": "MONDO:0011301", "name": "pseudohypoparathyroidism type 1B" }, { "id": "MONDO:0011301", "name": "pseudohypoparathyroidism Ib" }, { "id": "MONDO:0011301", "name": "PHP1B" }, { "id": "MONDO:0011301", "name": "pseudohypoparathyroidism, type IB" }, { "id": "MIM:603233", "name": "Pseudohypoparathyroidism 1B" } ], "record_url": "http://disease-ontology.org/term/DOID:0080222", "snv_count": 0, "protein_count": 12, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.3, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080223", "disease_id": "DOID:0080223", "recommended_name": "epidermolytic palmoplantar keratoderma", "synonyms": [ { "id": "DOID:0080223", "name": "EPPK" }, { "id": "MONDO:0007758", "name": "epidermolytic palmoplantar keratoderma, 1" }, { "id": "MONDO:0007758", "name": "EPPK" }, { "id": "MONDO:0007758", "name": "diffuse erythrodermic palmoplantar keratoderma, VC6rner type" }, { "id": "MONDO:0007758", "name": "diffuse erythrodermic palmoplantar keratoderma, Voerner type" }, { "id": "MONDO:0007758", "name": "epidermolytic palmoplantar keratoderma of VC6rner" }, { "id": "MONDO:0007758", "name": "epidermolytic palmoplantar keratoderma of Voerner" }, { "id": "MONDO:0007758", "name": "diffuse erythrodermic palmoplantar keratoderma, Vrner type" }, { "id": "MONDO:0007758", "name": "epidermolytic palmoplantar keratoderma of Vrner" }, { "id": "MONDO:0007758", "name": "hyperkeratosis palmoplantar localised epidermolytic" }, { "id": "MONDO:0007758", "name": "hyperkeratosis palmoplantar localized epidermolytic" }, { "id": "MONDO:0007758", "name": "hyperkeratosis, localised epidermolytic" }, { "id": "MONDO:0007758", "name": "palmoplantar keratoderma, epidermolytic" }, { "id": "MIM:144200", "name": "Palmoplantar keratoderma, epidermolytic, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080223", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0080224", "disease_id": "DOID:0080224", "recommended_name": "autosomal dominant dystrophic epidermolysis bullosa", "synonyms": [ { "id": "MONDO:0007549", "name": "generalized dominant dystrophic epidermolysis bullosa" }, { "id": "MONDO:0007549", "name": "DDEB, Pasini and Cockayne-Touraine types" }, { "id": "MONDO:0007549", "name": "DDEB, generalised" }, { "id": "MONDO:0007549", "name": "DDEB, generalized" }, { "id": "MONDO:0007549", "name": "DDEB-gen" }, { "id": "MONDO:0007549", "name": "autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types" }, { "id": "MONDO:0007549", "name": "epidermolysis bullosa dystrophica, AD" }, { "id": "MONDO:0007549", "name": "DDEB" }, { "id": "MONDO:0007549", "name": "dominant dystrophic epidermolysis bullosa" }, { "id": "MONDO:0007549", "name": "dominant dystrophic epidermolysis bullosa, generalised" }, { "id": "MONDO:0007549", "name": "dominant dystrophic epidermolysis bullosa, generalized" }, { "id": "MONDO:0007549", "name": "epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)" }, { "id": "MONDO:0007549", "name": "epidermolysis bullosa dystrophica, Pasini type (formerly)" }, { "id": "MONDO:0007549", "name": "epidermolysis bullosa dystrophica, autosomal dominant" }, { "id": "MIM:131750", "name": "Epidermolysis bullosa dystrophica, autosomal dominant" } ], "record_url": "http://disease-ontology.org/term/DOID:0080224", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080225", "disease_id": "DOID:0080225", "recommended_name": "amyotrophic lateral sclerosis type 23", "synonyms": [ { "id": "MONDO:0027694", "name": "amyotrophic lateral sclerosis type 23" }, { "id": "MONDO:0027694", "name": "ALS23" }, { "id": "MIM:617839", "name": "Amyotrophic lateral sclerosis 23" } ], "record_url": "http://disease-ontology.org/term/DOID:0080225", "snv_count": 0, "protein_count": 11, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.2, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080226", "disease_id": "DOID:0080226", "recommended_name": "autosomal dominant intellectual developmental disorder 56", "synonyms": [ { "id": "DOID:0080226", "name": "autosomal dominant mental retardation 56" }, { "id": "DOID:0080226", "name": "autosomal dominant intellectual developmental disorder-56" }, { "id": "MONDO:0030922", "name": "intellectual disability, autosomal dominant 56" }, { "id": "MONDO:0030922", "name": "CLTC-related ID" }, { "id": "MONDO:0030922", "name": "CLTC-related disorder" }, { "id": "MONDO:0030922", "name": "CLTC-related intellectual disability" }, { "id": "MONDO:0030922", "name": "intellectual disability, autosomal dominant 56" }, { "id": "MONDO:0030922", "name": "MRD56" }, { "id": "MONDO:0030922", "name": "autosomal dominant mental retardation 56" }, { "id": "MONDO:0030922", "name": "mental retardation, autosomal dominant 56" }, { "id": "MIM:617854", "name": "Intellectual developmental disorder, autosomal dominant 56" } ], "record_url": "http://disease-ontology.org/term/DOID:0080226", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080227", "disease_id": "DOID:0080227", "recommended_name": "autosomal dominant intellectual developmental disorder 55", "synonyms": [ { "id": "DOID:0080227", "name": "autosomal dominant mental retardation 55" }, { "id": "DOID:0080227", "name": "autosomal dominant intellectual developmental disorder-55 with seizures" }, { "id": "MONDO:0030921", "name": "intellectual disability, autosomal dominant 55, with seizures" }, { "id": "MONDO:0030921", "name": "intellectual disability, autosomal dominant 55, with seizures" }, { "id": "MONDO:0030921", "name": "MRD55" }, { "id": "MONDO:0030921", "name": "autosomal dominant mental retardation 55" }, { "id": "MONDO:0030921", "name": "mental retardation, autosomal dominant 55, with seizures" }, { "id": "MIM:617831", "name": "Intellectual developmental disorder, autosomal dominant 55, with seizures" } ], "record_url": "http://disease-ontology.org/term/DOID:0080227", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080228", "disease_id": "DOID:0080228", "recommended_name": "autosomal dominant intellectual developmental disorder 53", "synonyms": [ { "id": "DOID:0080228", "name": "autosomal dominant mental retardation 53" }, { "id": "MONDO:0030919", "name": "intellectual disability, autosomal dominant 53" }, { "id": "MONDO:0030919", "name": "intellectual disability, autosomal dominant 53" }, { "id": "MONDO:0030919", "name": "MRD53" }, { "id": "MONDO:0030919", "name": "autosomal dominant mental retardation 53" }, { "id": "MONDO:0030919", "name": "mental retardation, autosomal dominant 53" }, { "id": "MIM:617798", "name": "Intellectual developmental disorder, autosomal dominant 53" } ], "record_url": "http://disease-ontology.org/term/DOID:0080228", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080230", "disease_id": "DOID:0080230", "recommended_name": "autosomal dominant intellectual developmental disorder 54", "synonyms": [ { "id": "DOID:0080230", "name": "autosomal dominant mental retardation 54" }, { "id": "MONDO:0030920", "name": "intellectual disability, autosomal dominant 54" }, { "id": "MONDO:0030920", "name": "intellectual disability, autosomal dominant 54" }, { "id": "MONDO:0030920", "name": "MRD54" }, { "id": "MONDO:0030920", "name": "autosomal dominant mental retardation 54" }, { "id": "MONDO:0030920", "name": "mental retardation, autosomal dominant 54" }, { "id": "MIM:617799", "name": "Intellectual developmental disorder, autosomal dominant 54" } ], "record_url": "http://disease-ontology.org/term/DOID:0080230", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080231", "disease_id": "DOID:0080231", "recommended_name": "autosomal dominant intellectual developmental disorder 52", "synonyms": [ { "id": "DOID:0080231", "name": "autosomal dominant mental retardation 52" }, { "id": "MONDO:0030918", "name": "intellectual disability, autosomal dominant 52" }, { "id": "MONDO:0030918", "name": "intellectual disability, autosomal dominant 52" }, { "id": "MONDO:0030918", "name": "MRD52" }, { "id": "MONDO:0030918", "name": "autosomal dominant mental retardation 52" }, { "id": "MONDO:0030918", "name": "mental retardation, autosomal dominant 52" }, { "id": "MIM:617796", "name": "Intellectual developmental disorder, autosomal dominant 52" } ], "record_url": "http://disease-ontology.org/term/DOID:0080231", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080232", "disease_id": "DOID:0080232", "recommended_name": "autosomal dominant intellectual developmental disorder 51", "synonyms": [ { "id": "DOID:0080232", "name": "autosomal dominant mental retardation 51" }, { "id": "MONDO:0030917", "name": "intellectual disability, autosomal dominant 51" }, { "id": "MONDO:0030917", "name": "intellectual disability, autosomal dominant 51" }, { "id": "MONDO:0030917", "name": "MRD51" }, { "id": "MONDO:0030917", "name": "autosomal dominant mental retardation 51" }, { "id": "MONDO:0030917", "name": "mental retardation, autosomal dominant 51" }, { "id": "MIM:617788", "name": "Intellectual developmental disorder, autosomal dominant 51" } ], "record_url": "http://disease-ontology.org/term/DOID:0080232", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080233", "disease_id": "DOID:0080233", "recommended_name": "autosomal dominant intellectual developmental disorder 50", "synonyms": [ { "id": "DOID:0080233", "name": "autosomal dominant mental retardation 50" }, { "id": "DOID:0080233", "name": "autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities" }, { "id": "MONDO:0030916", "name": "intellectual disability, autosomal dominant 50" }, { "id": "MONDO:0030916", "name": "intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities" }, { "id": "MONDO:0030916", "name": "intellectual developmental disorder, autosomal dominant 50, with behavioural abnormalities" }, { "id": "MONDO:0030916", "name": "intellectual disability, autosomal dominant 50" }, { "id": "MONDO:0030916", "name": "MRD50" }, { "id": "MONDO:0030916", "name": "autosomal dominant mental retardation 50" }, { "id": "MONDO:0030916", "name": "mental retardation, autosomal dominant 50" }, { "id": "MIM:617787", "name": "Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities" } ], "record_url": "http://disease-ontology.org/term/DOID:0080233", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080234", "disease_id": "DOID:0080234", "recommended_name": "Clark-Baraitser syndrome", "synonyms": [ { "id": "DOID:0080234", "name": "autosomal dominant mental retardation 49" }, { "id": "DOID:0080234", "name": "Baraitser syndrome" }, { "id": "DOID:0080234", "name": "CLABARS" }, { "id": "DOID:0080234", "name": "autosomal dominant intellectual disability 49" }, { "id": "MONDO:0030914", "name": "Clark-Baraitser syndrome" }, { "id": "MONDO:0030914", "name": "Clark-Baraitser syndrome" }, { "id": "MONDO:0030914", "name": "MRD49" }, { "id": "MONDO:0030914", "name": "intellectual disability, autosomal dominant 49" }, { "id": "MONDO:0030914", "name": "autosomal dominant mental retardation 49" }, { "id": "MONDO:0030914", "name": "intellectual disability, tall stature, obesity, macrocephaly and typical facial features" }, { "id": "MONDO:0030914", "name": "mental retardation, autosomal dominant 49" }, { "id": "MONDO:0030914", "name": "mental retardation, tall stature, obesity, macrocephaly and typical facial features" }, { "id": "MONDO:0030914", "name": "Clark-Baraitser syndrome" }, { "id": "MONDO:0030914", "name": "Clark-Baraitser syndrome" }, { "id": "MONDO:0030914", "name": "MRD49" }, { "id": "MONDO:0030914", "name": "intellectual disability, autosomal dominant 49" }, { "id": "MONDO:0030914", "name": "autosomal dominant mental retardation 49" }, { "id": "MONDO:0030914", "name": "intellectual disability, tall stature, obesity, macrocephaly and typical facial features" }, { "id": "MONDO:0030914", "name": "mental retardation, autosomal dominant 49" }, { "id": "MONDO:0030914", "name": "mental retardation, tall stature, obesity, macrocephaly and typical facial features" }, { "id": "MIM:617752", "name": "Clark-Baraitser syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080234", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080235", "disease_id": "DOID:0080235", "recommended_name": "autosomal dominant intellectual developmental disorder 48", "synonyms": [ { "id": "DOID:0080235", "name": "autosomal dominant mental retardation 48" }, { "id": "MONDO:0030913", "name": "intellectual disability, autosomal dominant 48" }, { "id": "MONDO:0030913", "name": "intellectual disability, autosomal dominant 48" }, { "id": "MONDO:0030913", "name": "MRD48" }, { "id": "MONDO:0030913", "name": "autosomal dominant mental retardation 48" }, { "id": "MONDO:0030913", "name": "mental retardation, autosomal dominant 48" }, { "id": "MIM:617751", "name": "Intellectual developmental disorder, autosomal dominant 48" } ], "record_url": "http://disease-ontology.org/term/DOID:0080235", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080236", "disease_id": "DOID:0080236", "recommended_name": "autosomal dominant intellectual developmental disorder 45", "synonyms": [ { "id": "DOID:0080236", "name": "autosomal dominant mental retardation 45" }, { "id": "MONDO:0030910", "name": "intellectual disability, autosomal dominant 45" }, { "id": "MONDO:0030910", "name": "intellectual disability, autosomal dominant 45" }, { "id": "MONDO:0030910", "name": "MRD45" }, { "id": "MONDO:0030910", "name": "autosomal dominant mental retardation 45" }, { "id": "MONDO:0030910", "name": "mental retardation, autosomal dominant 45" }, { "id": "MIM:617600", "name": "Intellectual developmental disorder, autosomal dominant 45" } ], "record_url": "http://disease-ontology.org/term/DOID:0080236", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080237", "disease_id": "DOID:0080237", "recommended_name": "autosomal dominant intellectual developmental disorder 46", "synonyms": [ { "id": "DOID:0080237", "name": "autosomal dominant mental retardation 46" }, { "id": "MONDO:0030911", "name": "intellectual disability, autosomal dominant 46" }, { "id": "MONDO:0030911", "name": "intellectual disability, autosomal dominant 46" }, { "id": "MONDO:0030911", "name": "MRD46" }, { "id": "MONDO:0030911", "name": "autosomal dominant mental retardation 46" }, { "id": "MONDO:0030911", "name": "mental retardation, autosomal dominant 46" }, { "id": "MIM:617601", "name": "Intellectual developmental disorder, autosomal dominant 46" } ], "record_url": "http://disease-ontology.org/term/DOID:0080237", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080238", "disease_id": "DOID:0080238", "recommended_name": "autosomal dominant intellectual developmental disorder 47", "synonyms": [ { "id": "DOID:0080238", "name": "autosomal dominant mental retardation 47" }, { "id": "MONDO:0030912", "name": "intellectual disability, autosomal dominant 47" }, { "id": "MONDO:0030912", "name": "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome" }, { "id": "MONDO:0030912", "name": "intellectual disability, autosomal dominant 47" }, { "id": "MONDO:0030912", "name": "MRD47" }, { "id": "MONDO:0030912", "name": "autosomal dominant mental retardation 47" }, { "id": "MONDO:0030912", "name": "mental retardation, autosomal dominant 47" }, { "id": "MIM:617635", "name": "Intellectual developmental disorder, autosomal dominant 47" } ], "record_url": "http://disease-ontology.org/term/DOID:0080238", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080239", "disease_id": "DOID:0080239", "recommended_name": "autosomal recessive intellectual developmental disorder 61", "synonyms": [ { "id": "DOID:0080239", "name": "autosomal recessive mental retardation 61" }, { "id": "DOID:0080239", "name": "Alwadei syndrome" }, { "id": "DOID:0080239", "name": "autosomal recessive intellectual developmental disorder-61" }, { "id": "MONDO:0030915", "name": "intellectual disability, autosomal recessive 61" }, { "id": "MONDO:0030915", "name": "intellectual disability, autosomal recessive 61" }, { "id": "MONDO:0030915", "name": "MRT61" }, { "id": "MONDO:0030915", "name": "autosomal recessive mental retardation 61" }, { "id": "MONDO:0030915", "name": "mental retardation, autosomal recessive 61" }, { "id": "MIM:617773", "name": "Intellectual developmental disorder, autosomal recessive 61" } ], "record_url": "http://disease-ontology.org/term/DOID:0080239", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080240", "disease_id": "DOID:0080240", "recommended_name": "non-syndromic X-linked intellectual disability 106", "synonyms": [ { "id": "DOID:0080240", "name": "X-linked mental retardation 106" }, { "id": "DOID:0080240", "name": "MRX106" }, { "id": "MONDO:0030907", "name": "intellectual disability, X-linked 106" }, { "id": "MONDO:0030907", "name": "intellectual developmental disorder, X-linked 106, X-linked recessive" }, { "id": "MONDO:0030907", "name": "intellectual disability, X-linked 106" }, { "id": "MONDO:0030907", "name": "MRX106" }, { "id": "MONDO:0030907", "name": "X-linked mental retardation 106" }, { "id": "MONDO:0030907", "name": "mental retardation, X-linked 106" }, { "id": "MIM:300997", "name": "Intellectual developmental disorder, X-linked 106" } ], "record_url": "http://disease-ontology.org/term/DOID:0080240", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080241", "disease_id": "DOID:0080241", "recommended_name": "syndromic X-linked mental retardation 35", "synonyms": [ { "id": "MONDO:0030908", "name": "intellectual disability, X-linked, syndromic, 35" }, { "id": "MONDO:0030908", "name": "intellectual developmental disorder, X-linked, syndromic, 35, X-linked recessive" }, { "id": "MONDO:0030908", "name": "intellectual disability, X-linked, syndromic, 35" }, { "id": "MONDO:0030908", "name": "MRXS35" }, { "id": "MONDO:0030908", "name": "mental retardation, X-linked, syndromic, 35" }, { "id": "MONDO:0030908", "name": "syndromic X-linked mental retardation 35" }, { "id": "MIM:300998", "name": "Intellectual developmental disorder, X-linked, syndromic 35" } ], "record_url": "http://disease-ontology.org/term/DOID:0080241", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080242", "disease_id": "DOID:0080242", "recommended_name": "syndromic X-linked mental retardation Hough type", "synonyms": [ { "id": "MONDO:0030909", "name": "intellectual disability, X-linked, syndromic, Houge type" }, { "id": "MONDO:0030909", "name": "intellectual developmental disorder, X-linked, syndromic, Houge type" }, { "id": "MONDO:0030909", "name": "intellectual disability, X-linked, syndromic, Houge type" }, { "id": "MONDO:0030909", "name": "MRXSHG" }, { "id": "MONDO:0030909", "name": "mental retardation, X-linked, syndromic, HOUGE type" }, { "id": "MONDO:0030909", "name": "mental retardation, X-linked, syndromic, Houge type" }, { "id": "MONDO:0030909", "name": "syndromic X-linked mental retardation Hough type" }, { "id": "MIM:301008", "name": "Intellectual developmental disorder, X-linked, syndromic, Houge type" } ], "record_url": "http://disease-ontology.org/term/DOID:0080242", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080243", "disease_id": "DOID:0080243", "recommended_name": "amelogenesis imperfecta type 3B", "synonyms": [ { "id": "MONDO:0021547", "name": "amelogenesis imperfecta type 3B" }, { "id": "MONDO:0021547", "name": "AI3B" }, { "id": "MONDO:0021547", "name": "amelogenesis imperfecta, type 3B" }, { "id": "MONDO:0021547", "name": "amelogenesis imperfecta, type IIIB" }, { "id": "MIM:617607", "name": "Amelogenesis imperfecta 3B" } ], "record_url": "http://disease-ontology.org/term/DOID:0080243", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080244", "disease_id": "DOID:0080244", "recommended_name": "Galloway-Mowat syndrome 2", "synonyms": [ { "id": "MONDO:0033006", "name": "Galloway-Mowat syndrome 2, X-linked" }, { "id": "MONDO:0033006", "name": "Galloway-Mowat syndrome 2, X-linked" }, { "id": "MONDO:0033006", "name": "Galloway-Mowat syndrome 2, X-linked, X-linked recessive" }, { "id": "MONDO:0033006", "name": "GAMOS2" }, { "id": "MIM:301006", "name": "Galloway-Mowat syndrome 2, X-linked" } ], "record_url": "http://disease-ontology.org/term/DOID:0080244", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080245", "disease_id": "DOID:0080245", "recommended_name": "Galloway-Mowat syndrome 3", "synonyms": [ { "id": "MONDO:0033007", "name": "Galloway-Mowat syndrome 3" }, { "id": "MONDO:0033007", "name": "Galloway-Mowat syndrome 3" }, { "id": "MONDO:0033007", "name": "GAMOS3" }, { "id": "MIM:617729", "name": "Galloway-Mowat syndrome 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080245", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080246", "disease_id": "DOID:0080246", "recommended_name": "Galloway-Mowat syndrome 4", "synonyms": [ { "id": "MONDO:0033008", "name": "Galloway-Mowat syndrome 4" }, { "id": "MONDO:0033008", "name": "Galloway-Mowat syndrome 4" }, { "id": "MONDO:0033008", "name": "GAMOS4" }, { "id": "MIM:617730", "name": "Galloway-Mowat syndrome 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080246", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080247", "disease_id": "DOID:0080247", "recommended_name": "Galloway-Mowat syndrome 5", "synonyms": [ { "id": "MONDO:0033009", "name": "Galloway-Mowat syndrome 5" }, { "id": "MONDO:0033009", "name": "Galloway-Mowat syndrome 5" }, { "id": "MONDO:0033009", "name": "GAMOS5" }, { "id": "MIM:617731", "name": "Galloway-Mowat syndrome 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0080247", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080248", "disease_id": "DOID:0080248", "recommended_name": "erythrokeratodermia variabilis et progressiva 2", "synonyms": [ { "id": "MONDO:0033012", "name": "erythrokeratodermia variabilis et progressiva 2" }, { "id": "MONDO:0033012", "name": "EKVP2" }, { "id": "MIM:617524", "name": "Erythrokeratodermia variabilis et progressiva 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080248", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080249", "disease_id": "DOID:0080249", "recommended_name": "erythrokeratodermia variabilis et progressiva 3", "synonyms": [ { "id": "MONDO:0033013", "name": "erythrokeratodermia variabilis et progressiva 3" }, { "id": "MONDO:0033013", "name": "EKVP3" }, { "id": "MIM:617525", "name": "Erythrokeratodermia variabilis et progressiva 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080249", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080250", "disease_id": "DOID:0080250", "recommended_name": "erythrokeratodermia variabilis et progressiva 4", "synonyms": [ { "id": "MONDO:0033014", "name": "erythrokeratodermia variabilis et progressiva 4" }, { "id": "MONDO:0033014", "name": "erythrokeratodermia variabilis et progressiva 4" }, { "id": "MONDO:0033014", "name": "EKVP4" }, { "id": "MIM:617526", "name": "Erythrokeratodermia variabilis et progressiva 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080250", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080251", "disease_id": "DOID:0080251", "recommended_name": "erythrokeratodermia variabilis et progressiva 5", "synonyms": [ { "id": "MONDO:0033015", "name": "erythrokeratodermia variabilis et progressiva 5" }, { "id": "MONDO:0033015", "name": "EKVP5" }, { "id": "MIM:617756", "name": "Erythrokeratodermia variabilis et progressiva 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0080251", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001100001" }, { "record_id": "doid.0080252", "disease_id": "DOID:0080252", "recommended_name": "spastic ataxia 8", "synonyms": [ { "id": "MONDO:0033043", "name": "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" }, { "id": "MONDO:0033043", "name": "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" }, { "id": "MONDO:0033043", "name": "SPAX8" }, { "id": "MIM:617560", "name": "Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" } ], "record_url": "http://disease-ontology.org/term/DOID:0080252", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080253", "disease_id": "DOID:0080253", "recommended_name": "Meckel syndrome 13", "synonyms": [ { "id": "MONDO:0033044", "name": "Meckel syndrome 13" }, { "id": "MONDO:0033044", "name": "Meckel syndrome 13" }, { "id": "MONDO:0033044", "name": "Meckel syndrome, type 13" }, { "id": "MONDO:0033044", "name": "MKS13" }, { "id": "MIM:617562", "name": "Meckel syndrome 13" } ], "record_url": "http://disease-ontology.org/term/DOID:0080253", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080254", "disease_id": "DOID:0080254", "recommended_name": "orofaciodigital syndrome XVI", "synonyms": [ { "id": "MONDO:0033045", "name": "orofaciodigital syndrome 16" }, { "id": "MONDO:0033045", "name": "OFD16" }, { "id": "MIM:617563", "name": "Orofaciodigital syndrome 16" } ], "record_url": "http://disease-ontology.org/term/DOID:0080254", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080255", "disease_id": "DOID:0080255", "recommended_name": "Meier-Gorlin syndrome 8", "synonyms": [ { "id": "MONDO:0033046", "name": "Meier-Gorlin syndrome 8" }, { "id": "MONDO:0033046", "name": "Meier-Gorlin syndrome 8" }, { "id": "MONDO:0033046", "name": "MGORS8" }, { "id": "MIM:617564", "name": "Meier-Gorlin syndrome 8" } ], "record_url": "http://disease-ontology.org/term/DOID:0080255", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080256", "disease_id": "DOID:0080256", "recommended_name": "Perrault syndrome 6", "synonyms": [ { "id": "MONDO:0033047", "name": "Perrault syndrome 6" }, { "id": "MONDO:0033047", "name": "Perrault syndrome 6" }, { "id": "MONDO:0033047", "name": "PRLTS6" }, { "id": "MIM:617565", "name": "Perrault syndrome 6" } ], "record_url": "http://disease-ontology.org/term/DOID:0080256", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080257", "disease_id": "DOID:0080257", "recommended_name": "autosomal recessive congenital ichthyosis 13", "synonyms": [ { "id": "MONDO:0033092", "name": "ichthyosis, congenital, autosomal recessive 13" }, { "id": "MONDO:0033092", "name": "ichthyosis, congenital, autosomal recessive 13" }, { "id": "MONDO:0033092", "name": "ARCI13" }, { "id": "MIM:617574", "name": "Ichthyosis, congenital, autosomal recessive 13" } ], "record_url": "http://disease-ontology.org/term/DOID:0080257", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101010" }, { "record_id": "doid.0080258", "disease_id": "DOID:0080258", "recommended_name": "autosomal recessive congenital ichthyosis 14", "synonyms": [ { "id": "MONDO:0033091", "name": "ichthyosis, congenital, autosomal recessive 14" }, { "id": "MONDO:0033091", "name": "ichthyosis, congenital, autosomal recessive 14" }, { "id": "MONDO:0033091", "name": "ARCI14" }, { "id": "MIM:617571", "name": "Ichthyosis, congenital, autosomal recessive 14" } ], "record_url": "http://disease-ontology.org/term/DOID:0080258", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080259", "disease_id": "DOID:0080259", "recommended_name": "autosomal recessive spinocerebellar ataxia 25", "synonyms": [ { "id": "DOID:0080259", "name": "SCAR25" }, { "id": "MONDO:0033115", "name": "spinocerebellar ataxia, autosomal recessive 25" }, { "id": "MONDO:0033115", "name": "spinocerebellar ataxia, autosomal recessive 25" }, { "id": "MONDO:0033115", "name": "SCAR25" }, { "id": "MIM:617584", "name": "Spinocerebellar ataxia, autosomal recessive, 25" } ], "record_url": "http://disease-ontology.org/term/DOID:0080259", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080260", "disease_id": "DOID:0080260", "recommended_name": "autosomal recessive spinocerebellar ataxia 26", "synonyms": [ { "id": "DOID:0080260", "name": "SCAR26" }, { "id": "MONDO:0033116", "name": "spinocerebellar ataxia, autosomal recessive 26" }, { "id": "MONDO:0033116", "name": "spinocerebellar ataxia, autosomal recessive 26" }, { "id": "MONDO:0033116", "name": "SCAR26" }, { "id": "MIM:617633", "name": "Spinocerebellar ataxia, autosomal recessive, 26" } ], "record_url": "http://disease-ontology.org/term/DOID:0080260", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080261", "disease_id": "DOID:0080261", "recommended_name": "autosomal recessive nonsyndromic deafness 106", "synonyms": [ { "id": "MONDO:0033198", "name": "hearing loss, autosomal recessive 106" }, { "id": "MONDO:0033198", "name": "DFNB106" }, { "id": "MONDO:0033198", "name": "autosomal recessive nonsyndromic deafness 106" }, { "id": "MONDO:0033198", "name": "deafness autosomal recessive 106" }, { "id": "MONDO:0033198", "name": "deafness, autosomal recessive 106" }, { "id": "MIM:617637", "name": "Deafness, autosomal recessive, 106" } ], "record_url": "http://disease-ontology.org/term/DOID:0080261", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080262", "disease_id": "DOID:0080262", "recommended_name": "autosomal recessive nonsyndromic deafness 107", "synonyms": [ { "id": "MONDO:0033199", "name": "hearing loss, autosomal recessive 107" }, { "id": "MONDO:0033199", "name": "DFNB107" }, { "id": "MONDO:0033199", "name": "autosomal recessive nonsyndromic deafness 107" }, { "id": "MONDO:0033199", "name": "deafness, autosomal recessive 107" }, { "id": "MIM:617639", "name": "Deafness, autosomal recessive, 107" } ], "record_url": "http://disease-ontology.org/term/DOID:0080262", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080263", "disease_id": "DOID:0080263", "recommended_name": "autosomal recessive nonsyndromic deafness 108", "synonyms": [ { "id": "MONDO:0033200", "name": "hearing loss, autosomal recessive 108" }, { "id": "MONDO:0033200", "name": "DFNB108" }, { "id": "MONDO:0033200", "name": "autosomal recessive nonsyndromic deafness 108" }, { "id": "MONDO:0033200", "name": "deafness, autosomal recessive 108" }, { "id": "MIM:617654", "name": "Deafness, autosomal recessive, 108" } ], "record_url": "http://disease-ontology.org/term/DOID:0080263", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080264", "disease_id": "DOID:0080264", "recommended_name": "exudative vitreoretinopathy 7", "synonyms": [ { "id": "DOID:0080264", "name": "EVR7" }, { "id": "MONDO:0033123", "name": "exudative vitreoretinopathy 7" }, { "id": "MONDO:0033123", "name": "exudative vitreoretinopathy 7" }, { "id": "MONDO:0033123", "name": "EVR7" }, { "id": "MIM:617572", "name": "Vitreoretinopathy, exudative 7" } ], "record_url": "http://disease-ontology.org/term/DOID:0080264", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080265", "disease_id": "DOID:0080265", "recommended_name": "RENI syndrome", "synonyms": [ { "id": "DOID:0080265", "name": "nephrotic syndrome type 14" }, { "id": "MONDO:0033203", "name": "nephrotic syndrome 14" }, { "id": "MONDO:0033203", "name": "RENI syndrome" }, { "id": "MONDO:0033203", "name": "SGPL1 deficiency, steroid-resistant nephrotic syndrome type 14" }, { "id": "MONDO:0033203", "name": "SPLIS" }, { "id": "MONDO:0033203", "name": "familial steroid-resistant nephrotic syndrome with adrenal insufficiency" }, { "id": "MONDO:0033203", "name": "nephrotic syndrome 14" }, { "id": "MONDO:0033203", "name": "nephrotic syndrome, type 14" }, { "id": "MONDO:0033203", "name": "primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency" }, { "id": "MONDO:0033203", "name": "renal, endocrine, neurologic and immune syndrome" }, { "id": "MONDO:0033203", "name": "sphingosine phosphate lyase insufficiency syndrome" }, { "id": "MONDO:0033203", "name": "NPHS14" }, { "id": "MIM:617575", "name": "RENI syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080265", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080266", "disease_id": "DOID:0080266", "recommended_name": "primary ciliary dyskinesia 37", "synonyms": [ { "id": "MONDO:0033204", "name": "ciliary dyskinesia, primary, 37" }, { "id": "MONDO:0033204", "name": "ciliary dyskinesia, primary, 37" }, { "id": "MONDO:0033204", "name": "CILD37" }, { "id": "MIM:617577", "name": "Ciliary dyskinesia, primary, 37" } ], "record_url": "http://disease-ontology.org/term/DOID:0080266", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080267", "disease_id": "DOID:0080267", "recommended_name": "autosomal dominant nonsyndromic deafness 71", "synonyms": [ { "id": "MONDO:0033258", "name": "hearing loss, autosomal dominant 71" }, { "id": "MONDO:0033258", "name": "DFNA71" }, { "id": "MONDO:0033258", "name": "autosomal dominant nonsyndromic deafness 71" }, { "id": "MONDO:0033258", "name": "deafness, autosomal dominant 71" }, { "id": "MIM:617605", "name": "Deafness, autosomal dominant, 71" } ], "record_url": "http://disease-ontology.org/term/DOID:0080267", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080268", "disease_id": "DOID:0080268", "recommended_name": "autosomal dominant nonsyndromic deafness 72", "synonyms": [ { "id": "MONDO:0033259", "name": "hearing loss, autosomal dominant 72" }, { "id": "MONDO:0033259", "name": "DFNA72" }, { "id": "MONDO:0033259", "name": "autosomal dominant nonsyndromic deafness 72" }, { "id": "MONDO:0033259", "name": "deafness, autosomal dominant 72" }, { "id": "MIM:617606", "name": "Deafness, autosomal dominant, 72" } ], "record_url": "http://disease-ontology.org/term/DOID:0080268", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080269", "disease_id": "DOID:0080269", "recommended_name": "autosomal dominant nonsyndromic deafness 73", "synonyms": [ { "id": "MONDO:0033260", "name": "hearing loss, autosomal dominant 73" }, { "id": "MONDO:0033260", "name": "DFNA73" }, { "id": "MONDO:0033260", "name": "autosomal dominant nonsyndromic deafness 73" }, { "id": "MONDO:0033260", "name": "deafness, autosomal dominant 73" }, { "id": "MIM:617663", "name": "Deafness, autosomal dominant, 73" } ], "record_url": "http://disease-ontology.org/term/DOID:0080269", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080270", "disease_id": "DOID:0080270", "recommended_name": "autosomal dominant nonsyndromic deafness 34", "synonyms": [ { "id": "MONDO:0033261", "name": "hearing loss, autosomal dominant 34, with or without inflammation" }, { "id": "MONDO:0033261", "name": "DFNA34" }, { "id": "MONDO:0033261", "name": "autosomal dominant nonsyndromic deafness 34" }, { "id": "MONDO:0033261", "name": "deafness, autosomal dominant 34, with or without inflammation" }, { "id": "MIM:617772", "name": "Deafness, autosomal dominant, 34, with or without inflammation" } ], "record_url": "http://disease-ontology.org/term/DOID:0080270", "snv_count": 0, "protein_count": 24, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080271", "disease_id": "DOID:0080271", "recommended_name": "nephrotic syndrome type 15", "synonyms": [ { "id": "MONDO:0033262", "name": "nephrotic syndrome 15" }, { "id": "MONDO:0033262", "name": "nephrotic syndrome 15" }, { "id": "MONDO:0033262", "name": "nephrotic syndrome, type 15" }, { "id": "MONDO:0033262", "name": "NPHS15" }, { "id": "MIM:617609", "name": "Nephrotic syndrome 15" } ], "record_url": "http://disease-ontology.org/term/DOID:0080271", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080272", "disease_id": "DOID:0080272", "recommended_name": "nephrotic syndrome type 16", "synonyms": [ { "id": "MONDO:0033280", "name": "nephrotic syndrome 16" }, { "id": "MONDO:0033280", "name": "nephrotic syndrome 16" }, { "id": "MONDO:0033280", "name": "nephrotic syndrome, type 16" }, { "id": "MONDO:0033280", "name": "NPHS16" }, { "id": "MIM:617783", "name": "Nephrotic syndrome 16" } ], "record_url": "http://disease-ontology.org/term/DOID:0080272", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080273", "disease_id": "DOID:0080273", "recommended_name": "polycystic kidney disease 5", "synonyms": [ { "id": "MONDO:0033281", "name": "polycystic kidney disease 5" }, { "id": "MONDO:0033281", "name": "DZIP1L polycystic kidney disease" }, { "id": "MONDO:0033281", "name": "polycystic kidney disease 5" }, { "id": "MONDO:0033281", "name": "polycystic kidney disease caused by mutation in DZIP1L" }, { "id": "MONDO:0033281", "name": "PKD5" }, { "id": "MIM:617610", "name": "Polycystic kidney disease 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0080273", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080274", "disease_id": "DOID:0080274", "recommended_name": "multiple mitochondrial dysfunctions syndrome 5", "synonyms": [ { "id": "MONDO:0033282", "name": "multiple mitochondrial dysfunctions syndrome 5" }, { "id": "MONDO:0033282", "name": "multiple mitochondrial dysfunctions syndrome 5" }, { "id": "MONDO:0033282", "name": "MMDS5" }, { "id": "MIM:617613", "name": "Multiple mitochondrial dysfunctions syndrome 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0080274", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080275", "disease_id": "DOID:0080275", "recommended_name": "Joubert syndrome 30", "synonyms": [ { "id": "MONDO:0033308", "name": "Joubert syndrome 30" }, { "id": "MONDO:0033308", "name": "Joubert syndrome 30" }, { "id": "MONDO:0033308", "name": "JBTS30" }, { "id": "MIM:617622", "name": "Joubert syndrome 30" } ], "record_url": "http://disease-ontology.org/term/DOID:0080275", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080277", "disease_id": "DOID:0080277", "recommended_name": "Joubert syndrome 31", "synonyms": [ { "id": "MONDO:0033310", "name": "Joubert syndrome 31" }, { "id": "MONDO:0033310", "name": "Joubert syndrome 31" }, { "id": "MONDO:0033310", "name": "JBTS31" }, { "id": "MIM:617761", "name": "Joubert syndrome 31" } ], "record_url": "http://disease-ontology.org/term/DOID:0080277", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080278", "disease_id": "DOID:0080278", "recommended_name": "Joubert syndrome 32", "synonyms": [ { "id": "MONDO:0033309", "name": "Joubert syndrome 32" }, { "id": "MONDO:0033309", "name": "Joubert syndrome 32" }, { "id": "MONDO:0033309", "name": "JBTS32" }, { "id": "MIM:617757", "name": "Joubert syndrome 32" } ], "record_url": "http://disease-ontology.org/term/DOID:0080278", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080279", "disease_id": "DOID:0080279", "recommended_name": "Joubert syndrome 33", "synonyms": [ { "id": "MONDO:0033311", "name": "Joubert syndrome 33" }, { "id": "MONDO:0033311", "name": "Joubert syndrome 33" }, { "id": "MONDO:0033311", "name": "JBTS33" }, { "id": "MIM:617767", "name": "Joubert syndrome 33" } ], "record_url": "http://disease-ontology.org/term/DOID:0080279", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080280", "disease_id": "DOID:0080280", "recommended_name": "gingival fibromatosis 5", "synonyms": [ { "id": "MONDO:0033493", "name": "fibromatosis, gingival, 5" }, { "id": "MONDO:0033493", "name": "fibromatosis, gingival, 5" }, { "id": "MONDO:0033493", "name": "GGF5" }, { "id": "MONDO:0033493", "name": "GINGF5" }, { "id": "MIM:617626", "name": "Fibromatosis, gingival, 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0080280", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080281", "disease_id": "DOID:0080281", "recommended_name": "schizophrenia 19", "synonyms": [ { "id": "MONDO:0033312", "name": "schizophrenia 19" }, { "id": "MONDO:0033312", "name": "schizophrenia 19" }, { "id": "MONDO:0033312", "name": "SCZD19" }, { "id": "MIM:617629", "name": "Schizophrenia 19" } ], "record_url": "http://disease-ontology.org/term/DOID:0080281", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080282", "disease_id": "DOID:0080282", "recommended_name": "developmental and epileptic encephalopathy 56", "synonyms": [ { "id": "DOID:0080282", "name": "early infantile epileptic encephalopathy 56" }, { "id": "DOID:0080282", "name": "DEE56" }, { "id": "MONDO:0033365", "name": "developmental and epileptic encephalopathy, 56" }, { "id": "MONDO:0033365", "name": "DEE56" }, { "id": "MONDO:0033365", "name": "EIEE56" }, { "id": "MONDO:0033365", "name": "developmental and epileptic encephalopathy 56" }, { "id": "MONDO:0033365", "name": "epileptic encephalopathy, early infantile, 56" }, { "id": "MONDO:0033365", "name": "infantile epileptic encephalopathy 56" }, { "id": "MIM:617665", "name": "Developmental and epileptic encephalopathy 56" } ], "record_url": "http://disease-ontology.org/term/DOID:0080282", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080283", "disease_id": "DOID:0080283", "recommended_name": "developmental and epileptic encephalopathy 55", "synonyms": [ { "id": "DOID:0080283", "name": "early infantile epileptic encephalopathy 55" }, { "id": "DOID:0080283", "name": "glycosylphosphatidylinositol biosynthesis defect 14" }, { "id": "DOID:0080283", "name": "DEE55" }, { "id": "DOID:0080283", "name": "GPIBD14" }, { "id": "MONDO:0033364", "name": "developmental and epileptic encephalopathy, 55" }, { "id": "MONDO:0033364", "name": "DEE55" }, { "id": "MONDO:0033364", "name": "EIEE55" }, { "id": "MONDO:0033364", "name": "developmental and epileptic encephalopathy 55" }, { "id": "MONDO:0033364", "name": "epileptic encephalopathy, early infantile, 55" }, { "id": "MIM:617599", "name": "Developmental and epileptic encephalopathy 55" } ], "record_url": "http://disease-ontology.org/term/DOID:0080283", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080284", "disease_id": "DOID:0080284", "recommended_name": "developmental and epileptic encephalopathy 57", "synonyms": [ { "id": "DOID:0080284", "name": "early infantile epileptic encephalopathy 57" }, { "id": "DOID:0080284", "name": "DEE57" }, { "id": "MONDO:0033366", "name": "developmental and epileptic encephalopathy, 57" }, { "id": "MONDO:0033366", "name": "DEE57" }, { "id": "MONDO:0033366", "name": "EIEE57" }, { "id": "MONDO:0033366", "name": "developmental and epileptic encephalopathy 57" }, { "id": "MONDO:0033366", "name": "epileptic encephalopathy, early infantile, 57" }, { "id": "MONDO:0033366", "name": "infantile epileptic encephalopathy 57" }, { "id": "MIM:617771", "name": "Developmental and epileptic encephalopathy 57" } ], "record_url": "http://disease-ontology.org/term/DOID:0080284", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080285", "disease_id": "DOID:0080285", "recommended_name": "developmental and epileptic encephalopathy 58", "synonyms": [ { "id": "DOID:0080285", "name": "early infantile epileptic encephalopathy 58" }, { "id": "DOID:0080285", "name": "DEE58" }, { "id": "MONDO:0033367", "name": "developmental and epileptic encephalopathy, 58" }, { "id": "MONDO:0033367", "name": "DEE58" }, { "id": "MONDO:0033367", "name": "EIEE58" }, { "id": "MONDO:0033367", "name": "developmental and epileptic encephalopathy 58" }, { "id": "MONDO:0033367", "name": "epileptic encephalopathy, early infantile, 58" }, { "id": "MONDO:0033367", "name": "infantile epileptic encephalopathy 58" }, { "id": "MIM:617830", "name": "Developmental and epileptic encephalopathy 58" } ], "record_url": "http://disease-ontology.org/term/DOID:0080285", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080286", "disease_id": "DOID:0080286", "recommended_name": "spinocerebellar ataxia 44", "synonyms": [ { "id": "MONDO:0033479", "name": "spinocerebellar ataxia 44" }, { "id": "MONDO:0033479", "name": "spinocerebellar ataxia 44" }, { "id": "MONDO:0033479", "name": "SCA44" }, { "id": "MIM:617691", "name": "Spinocerebellar ataxia 44" } ], "record_url": "http://disease-ontology.org/term/DOID:0080286", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080287", "disease_id": "DOID:0080287", "recommended_name": "spinocerebellar ataxia 45", "synonyms": [ { "id": "MONDO:0033480", "name": "spinocerebellar ataxia 45" }, { "id": "MONDO:0033480", "name": "spinocerebellar ataxia 45" }, { "id": "MONDO:0033480", "name": "SCA45" }, { "id": "MIM:617769", "name": "Spinocerebellar ataxia 45" } ], "record_url": "http://disease-ontology.org/term/DOID:0080287", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080288", "disease_id": "DOID:0080288", "recommended_name": "spinocerebellar ataxia 46", "synonyms": [ { "id": "MONDO:0033481", "name": "spinocerebellar ataxia 46" }, { "id": "MONDO:0033481", "name": "spinocerebellar ataxia 46" }, { "id": "MONDO:0033481", "name": "SCA46" }, { "id": "MIM:617770", "name": "Spinocerebellar ataxia 46" } ], "record_url": "http://disease-ontology.org/term/DOID:0080288", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080289", "disease_id": "DOID:0080289", "recommended_name": "orofaciodigital syndrome XVII", "synonyms": [ { "id": "MONDO:0033375", "name": "orofaciodigital syndrome 17" }, { "id": "MONDO:0033375", "name": "OFD17" }, { "id": "MONDO:0033375", "name": "OFDS XVII" }, { "id": "MONDO:0033375", "name": "oral-facial-digital syndrome, type XVII" }, { "id": "MIM:617926", "name": "Orofaciodigital syndrome 17" } ], "record_url": "http://disease-ontology.org/term/DOID:0080289", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080290", "disease_id": "DOID:0080290", "recommended_name": "familial erythrocytosis 5", "synonyms": [ { "id": "DOID:0080290", "name": "ECYT5" }, { "id": "MONDO:0033483", "name": "erythrocytosis, familial, 5" }, { "id": "MONDO:0033483", "name": "EPO familial polycythemia" }, { "id": "MONDO:0033483", "name": "erythrocytosis, familial, 5" }, { "id": "MONDO:0033483", "name": "familial polycythemia caused by mutation in EPO" }, { "id": "MONDO:0033483", "name": "ECYT5" }, { "id": "MIM:617907", "name": "Erythrocytosis, familial, 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0080290", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080291", "disease_id": "DOID:0080291", "recommended_name": "developmental and epileptic encephalopathy 59", "synonyms": [ { "id": "DOID:0080291", "name": "early infantile epileptic encephalopathy 59" }, { "id": "DOID:0080291", "name": "DEE59" }, { "id": "MONDO:0033368", "name": "developmental and epileptic encephalopathy, 59" }, { "id": "MONDO:0033368", "name": "DEE59" }, { "id": "MONDO:0033368", "name": "EIEE59" }, { "id": "MONDO:0033368", "name": "developmental and epileptic encephalopathy 59" }, { "id": "MONDO:0033368", "name": "epileptic encephalopathy, early infantile, 59" }, { "id": "MONDO:0033368", "name": "infantile epileptic encephalopathy 59" }, { "id": "MIM:617904", "name": "Developmental and epileptic encephalopathy 59" } ], "record_url": "http://disease-ontology.org/term/DOID:0080291", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080292", "disease_id": "DOID:0080292", "recommended_name": "retinitis pigmentosa 81", "synonyms": [ { "id": "MONDO:0036482", "name": "retinitis pigmentosa 81" }, { "id": "MONDO:0036482", "name": "retinitis pigmentosa 81" }, { "id": "MONDO:0036482", "name": "RP81" }, { "id": "MIM:617871", "name": "Retinitis pigmentosa 81" } ], "record_url": "http://disease-ontology.org/term/DOID:0080292", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080293", "disease_id": "DOID:0080293", "recommended_name": "short-rib thoracic dysplasia 18 with polydactyly", "synonyms": [ { "id": "MONDO:0036483", "name": "short-rib thoracic dysplasia 18 with polydactyly" }, { "id": "MONDO:0036483", "name": "short-rib thoracic dysplasia 18 with polydactyly" }, { "id": "MONDO:0036483", "name": "SRTD18" }, { "id": "MIM:617866", "name": "Short-rib thoracic dysplasia 18 with polydactyly" } ], "record_url": "http://disease-ontology.org/term/DOID:0080293", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080294", "disease_id": "DOID:0080294", "recommended_name": "Charcot-Marie-Tooth disease dominant intermediate G", "synonyms": [ { "id": "MONDO:0036484", "name": "Charcot-Marie-Tooth disease, dominant intermediate G" }, { "id": "MONDO:0036484", "name": "Charcot-Marie-Tooth disease, dominant intermediate G" }, { "id": "MONDO:0036484", "name": "CMTDIG" }, { "id": "MIM:617882", "name": "Charcot-Marie-Tooth disease, dominant intermediate G" } ], "record_url": "http://disease-ontology.org/term/DOID:0080294", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080295", "disease_id": "DOID:0080295", "recommended_name": "short-rib thoracic dysplasia 19 with or without polydactyly", "synonyms": [ { "id": "MONDO:0033485", "name": "short-rib thoracic dysplasia 19 with or without polydactyly" }, { "id": "MONDO:0033485", "name": "short-rib thoracic dysplasia 19 with or without polydactyly" }, { "id": "MONDO:0033485", "name": "SRTD19" }, { "id": "MIM:617895", "name": "Short-rib thoracic dysplasia 19 with or without polydactyly" } ], "record_url": "http://disease-ontology.org/term/DOID:0080295", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080296", "disease_id": "DOID:0080296", "recommended_name": "hypomyelinating leukodystrophy 14", "synonyms": [ { "id": "MONDO:0033486", "name": "leukodystrophy, hypomyelinating, 14" }, { "id": "MONDO:0033486", "name": "leukodystrophy, hypomyelinating, 14" }, { "id": "MONDO:0033486", "name": "HLD14" }, { "id": "MIM:617899", "name": "Leukodystrophy, hypomyelinating, 14" } ], "record_url": "http://disease-ontology.org/term/DOID:0080296", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080297", "disease_id": "DOID:0080297", "recommended_name": "Coffin-Siris syndrome 6", "synonyms": [ { "id": "MONDO:0033492", "name": "Coffin-Siris syndrome 6" }, { "id": "MONDO:0033492", "name": "ARID2-related BAFopathy" }, { "id": "MONDO:0033492", "name": "Coffin-Siris syndrome 6" }, { "id": "MONDO:0033492", "name": "CSS6" }, { "id": "MIM:617808", "name": "Coffin-Siris syndrome 6" } ], "record_url": "http://disease-ontology.org/term/DOID:0080297", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080299", "disease_id": "DOID:0080299", "recommended_name": "partial lipodystrophy", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080299", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080301", "disease_id": "DOID:0080301", "recommended_name": "atypical hemolytic-uremic syndrome", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080301", "snv_count": 0, "protein_count": 44, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 4.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080307", "disease_id": "DOID:0080307", "recommended_name": "myofibrillar myopathy", "synonyms": [ { "id": "MONDO:0011076", "name": "myofibrillar myopathy 1" }, { "id": "MONDO:0011076", "name": "DES autosomal recessive limb-girdle muscular dystrophy" }, { "id": "MONDO:0011076", "name": "DES myofibrillar myopathy (disease)" }, { "id": "MONDO:0011076", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES" }, { "id": "MONDO:0011076", "name": "autosomal recessive limb-girdle muscular dystrophy type 2R" }, { "id": "MONDO:0011076", "name": "desmin-related myofibrillar myopathy" }, { "id": "MONDO:0011076", "name": "desminopathy" }, { "id": "MONDO:0011076", "name": "myofibrillar myopathy (disease) caused by mutation in DES" }, { "id": "MONDO:0011076", "name": "myofibrillar myopathy 1" }, { "id": "MONDO:0011076", "name": "myofibrillar myopathy type 1" }, { "id": "MONDO:0011076", "name": "myopathy, myofibrillar, type 1" }, { "id": "MONDO:0011076", "name": "CMD1F and LGMD1D" }, { "id": "MONDO:0011076", "name": "IBM1" }, { "id": "MONDO:0011076", "name": "MFM1" }, { "id": "MONDO:0011076", "name": "arrhythmogenic right ventricular cardiomyopathy 7" }, { "id": "MONDO:0011076", "name": "arrhythmogenic right ventricular dysplasia, familial, 7" }, { "id": "MONDO:0011076", "name": "cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D" }, { "id": "MONDO:0011076", "name": "cardiomyopathy, dilated, with conduction defect and muscular dystrophy" }, { "id": "MONDO:0011076", "name": "inclusion body myopathy 1, autosomal dominant" }, { "id": "MONDO:0011076", "name": "myopathy, myofibrillar, 1" }, { "id": "MIM:601419", "name": "Myopathy, myofibrillar, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080307", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0080308", "disease_id": "DOID:0080308", "recommended_name": "myofibrillar myopathy 8", "synonyms": [ { "id": "MONDO:0014993", "name": "myofibrillar myopathy 8" }, { "id": "MONDO:0014993", "name": "PYROXD1 myofibrillar myopathy (disease)" }, { "id": "MONDO:0014993", "name": "myofibrillar myopathy (disease) caused by mutation in PYROXD1" }, { "id": "MONDO:0014993", "name": "myofibrillar myopathy 8" }, { "id": "MONDO:0014993", "name": "myopathy, myofibrillar, 8" }, { "id": "MONDO:0014993", "name": "myopathy, myofibrillar, type 8" }, { "id": "MONDO:0014993", "name": "MFM8" }, { "id": "MIM:617258", "name": "Myopathy, myofibrillar, 8" } ], "record_url": "http://disease-ontology.org/term/DOID:0080308", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080309", "disease_id": "DOID:0080309", "recommended_name": "infantile-onset myofibrillar myopathy-2B", "synonyms": [ { "id": "DOID:0080309", "name": "fatal infantile hypertonic myofibrillar myopathy" }, { "id": "DOID:0080309", "name": "MFM2B" }, { "id": "MONDO:0013472", "name": "fatal infantile hypertonic myofibrillar myopathy" }, { "id": "MONDO:0013472", "name": "alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy" }, { "id": "MONDO:0013472", "name": "fatal infantile hypertonic myofibrillar myopathy" }, { "id": "MIM:613869", "name": "Myopathy, myofibrillar, 2B, infantile-onset" } ], "record_url": "http://disease-ontology.org/term/DOID:0080309", "snv_count": 0, "protein_count": 12, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.3, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080311", "disease_id": "DOID:0080311", "recommended_name": "Billuart-type X-linked syndromic intellectual developmental disorder", "synonyms": [ { "id": "DOID:0080311", "name": "X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance" }, { "id": "MONDO:0010337", "name": "X-linked intellectual disability-cerebellar hypoplasia syndrome" }, { "id": "MONDO:0010337", "name": "OPHN1 syndrome" }, { "id": "MONDO:0010337", "name": "Oligophrenin-1 syndrome" }, { "id": "MONDO:0010337", "name": "X-linked intellectual disability-cerebellar hypoplasia syndrome" }, { "id": "MONDO:0010337", "name": "intellectual developmental disorder, X-linked syndromic, Billuart type, X-linked recessive" }, { "id": "MONDO:0010337", "name": "MRX60 (formerly)" }, { "id": "MONDO:0010337", "name": "OPHN1 XLMR" }, { "id": "MONDO:0010337", "name": "OPHN1 XLMR, X-linked intellectual disability" }, { "id": "MONDO:0010337", "name": "OPHN1 deficiency" }, { "id": "MONDO:0010337", "name": "OPHN1- related XLID" }, { "id": "MONDO:0010337", "name": "X-linked intellectual Deficit with cerebellar Hypoplasia" }, { "id": "MONDO:0010337", "name": "intellectual disability X-linked 60 (formerly)" }, { "id": "MONDO:0010337", "name": "intellectual disability X-linked with cerebellar hypoplasia and distinctive facial appearance" }, { "id": "MONDO:0010337", "name": "intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance" }, { "id": "MONDO:0010337", "name": "mental retardation X-linked 60 (formerly)" }, { "id": "MONDO:0010337", "name": "mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance" }, { "id": "MONDO:0010337", "name": "mental retardation, X-linked 60" }, { "id": "MONDO:0010337", "name": "mental retardation, X-linked 60, formerly" }, { "id": "MONDO:0010337", "name": "mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance" }, { "id": "MIM:300486", "name": "Intellectual developmental disorder, X-linked, syndromic, Billuart type" } ], "record_url": "http://disease-ontology.org/term/DOID:0080311", "snv_count": 0, "protein_count": 14, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080312", "disease_id": "DOID:0080312", "recommended_name": "neurodevelopmental disorder with midbrain and hindbrain malformations", "synonyms": [ { "id": "DOID:0080312", "name": "NEDMHM" }, { "id": "MONDO:0056797", "name": "neurodevelopmental disorder with midbrain and hindbrain malformations" }, { "id": "MONDO:0056797", "name": "NEDMHM" }, { "id": "MONDO:0056797", "name": "neurodevelopmental disorder with midbrain and hindbrain malformations" }, { "id": "MIM:617523", "name": "Neurodevelopmental disorder with midbrain and hindbrain malformations" } ], "record_url": "http://disease-ontology.org/term/DOID:0080312", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080313", "disease_id": "DOID:0080313", "recommended_name": "cleft palate-lateral synechia syndrome", "synonyms": [ { "id": "DOID:0080313", "name": "CPLS syndrome" }, { "id": "DOID:0080313", "name": "syngnathia" }, { "id": "MONDO:0007337", "name": "cleft palate-lateral synechia syndrome" }, { "id": "MONDO:0007337", "name": "CPLS syndrome" }, { "id": "MONDO:0007337", "name": "cleft palate-lateral synechia syndrome" }, { "id": "MONDO:0007337", "name": "cleft palate lateral synechia syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080313", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080314", "disease_id": "DOID:0080314", "recommended_name": "cone-rod dystrophy 14", "synonyms": [ { "id": "MONDO:0011193", "name": "cone dystrophy 3" }, { "id": "MONDO:0011193", "name": "GUCA1A cone dystrophy" }, { "id": "MONDO:0011193", "name": "cone dystrophy 3" }, { "id": "MONDO:0011193", "name": "cone dystrophy caused by mutation in GUCA1A" }, { "id": "MONDO:0011193", "name": "cone dystrophy type 3" }, { "id": "MONDO:0011193", "name": "cone dystrophy-3" }, { "id": "MONDO:0011193", "name": "COD3" }, { "id": "MIM:602093", "name": "Cone dystrophy 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080314", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080315", "disease_id": "DOID:0080315", "recommended_name": "megalencephalic leukoencephalopathy with subcortical cysts", "synonyms": [ { "id": "DOID:0080315", "name": "vacuolating megalencephalic leukoencephalopathy with subcortical cysts" }, { "id": "DOID:0080315", "name": "megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome" }, { "id": "MONDO:0024555", "name": "megalencephalic leukoencephalopathy with subcortical cysts 1" }, { "id": "MONDO:0024555", "name": "megalencephalic leukoencephalopathy with subcortical cysts" }, { "id": "MONDO:0024555", "name": "megalencephalic leukoencephalopathy with subcortical cysts 1" }, { "id": "MONDO:0024555", "name": "MLC1" }, { "id": "MONDO:0024555", "name": "VL" }, { "id": "MIM:604004", "name": "Megalencephalic leukoencephalopathy with subcortical cysts 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080315", "snv_count": 0, "protein_count": 19, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080316", "disease_id": "DOID:0080316", "recommended_name": "megalencephalic leukoencephalopathy with subcortical cysts 1", "synonyms": [ { "id": "DOID:0080316", "name": "Van Der Knaap disease" }, { "id": "DOID:0080316", "name": "leukoencephalopathy with swelling and cysts" }, { "id": "MONDO:0024555", "name": "megalencephalic leukoencephalopathy with subcortical cysts 1" }, { "id": "MONDO:0024555", "name": "megalencephalic leukoencephalopathy with subcortical cysts" }, { "id": "MONDO:0024555", "name": "megalencephalic leukoencephalopathy with subcortical cysts 1" }, { "id": "MONDO:0024555", "name": "MLC1" }, { "id": "MONDO:0024555", "name": "VL" }, { "id": "MIM:604004", "name": "Megalencephalic leukoencephalopathy with subcortical cysts 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080316", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080317", "disease_id": "DOID:0080317", "recommended_name": "megalencephalic leukoencephalopathy with subcortical cysts 2B", "synonyms": [ { "id": "DOID:0080317", "name": "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation" }, { "id": "MONDO:0013491", "name": "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability" }, { "id": "MONDO:0013491", "name": "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability" }, { "id": "MONDO:0013491", "name": "megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation" }, { "id": "MONDO:0013491", "name": "MLC2B" }, { "id": "MIM:613926", "name": "Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development" } ], "record_url": "http://disease-ontology.org/term/DOID:0080317", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080318", "disease_id": "DOID:0080318", "recommended_name": "megalencephalic leukoencephalopathy with subcortical cysts 2A", "synonyms": [ { "id": "MONDO:0013490", "name": "megalencephalic leukoencephalopathy with subcortical cysts 2A" }, { "id": "MONDO:0013490", "name": "megalencephalic leukoencephalopathy with subcortical cysts 2A" }, { "id": "MONDO:0013490", "name": "megalencephalic leukoencephalopathy with subcortical cysts type 2A" }, { "id": "MONDO:0013490", "name": "MLC2A" }, { "id": "MIM:613925", "name": "Megalencephalic leukoencephalopathy with subcortical cysts 2A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080318", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080319", "disease_id": "DOID:0080319", "recommended_name": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia", "synonyms": [ { "id": "DOID:0080319", "name": "XMEN" }, { "id": "MONDO:0010455", "name": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia" }, { "id": "MONDO:0010455", "name": "Cid due to MAGT1 deficiency" }, { "id": "MONDO:0010455", "name": "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia" }, { "id": "MONDO:0010455", "name": "XMEN" }, { "id": "MONDO:0010455", "name": "combined immunodeficiency due to MAGT1 deficiency" }, { "id": "MONDO:0010455", "name": "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive" }, { "id": "MONDO:0010455", "name": "X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia" }, { "id": "MONDO:0010455", "name": "immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia" }, { "id": "MIM:300853", "name": "Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia" } ], "record_url": "http://disease-ontology.org/term/DOID:0080319", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080322", "disease_id": "DOID:0080322", "recommended_name": "polycystic kidney disease", "synonyms": [ { "id": "MONDO:0008263", "name": "polycystic kidney disease 1" }, { "id": "MONDO:0008263", "name": "APKD1" }, { "id": "MONDO:0008263", "name": "PKD1" }, { "id": "MONDO:0008263", "name": "PKD1 autosomal dominant polycystic kidney disease" }, { "id": "MONDO:0008263", "name": "autosomal dominant polycystic kidney disease caused by mutation in PKD1" }, { "id": "MONDO:0008263", "name": "polycystic kidney disease 1" }, { "id": "MONDO:0008263", "name": "polycystic kidney disease type 1" }, { "id": "MONDO:0008263", "name": "Potter type 3 polycystic kidney disease" }, { "id": "MIM:173900", "name": "Polycystic kidney disease 1 with or without polycystic liver disease" } ], "record_url": "http://disease-ontology.org/term/DOID:0080322", "snv_count": 0, "protein_count": 184, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 18.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080324", "disease_id": "DOID:0080324", "recommended_name": "tuberous sclerosis 1", "synonyms": [ { "id": "MONDO:0008612", "name": "tuberous sclerosis 1" }, { "id": "MONDO:0008612", "name": "TSC1 tuberous sclerosis" }, { "id": "MONDO:0008612", "name": "TSC1-related tuberous sclerosis" }, { "id": "MONDO:0008612", "name": "tuberous sclerosis 1" }, { "id": "MONDO:0008612", "name": "tuberous sclerosis caused by mutation in TSC1" }, { "id": "MONDO:0008612", "name": "tuberous sclerosis type 1" }, { "id": "MONDO:0008612", "name": "tuberous sclerosis-1" }, { "id": "MONDO:0008612", "name": "TSC1" }, { "id": "MONDO:0008612", "name": "tuberous sclerosis, type 1" }, { "id": "MIM:191100", "name": "Tuberous sclerosis 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080324", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080325", "disease_id": "DOID:0080325", "recommended_name": "tuberous sclerosis 2", "synonyms": [ { "id": "MONDO:0013199", "name": "tuberous sclerosis 2" }, { "id": "MONDO:0013199", "name": "TSC2-related tuberous sclerosis" }, { "id": "MONDO:0013199", "name": "tuberous sclerosis 2" }, { "id": "MONDO:0013199", "name": "tuberous sclerosis type 2" }, { "id": "MONDO:0013199", "name": "tuberous sclerosis-2" }, { "id": "MONDO:0013199", "name": "TSC2" }, { "id": "MONDO:0013199", "name": "tuberous sclerosis, type 2" }, { "id": "MIM:613254", "name": "Tuberous sclerosis 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080325", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080326", "disease_id": "DOID:0080326", "recommended_name": "familial hypertrophic cardiomyopathy", "synonyms": [ { "id": "MONDO:0008647", "name": "hypertrophic cardiomyopathy 1" }, { "id": "MONDO:0008647", "name": "CMH1" }, { "id": "MONDO:0008647", "name": "MYH7 hypertrophic cardiomyopathy" }, { "id": "MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, Autosomal dominant, Digenic dominant" }, { "id": "MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, type 1" }, { "id": "MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, Autosomal dominant, Digenic dominant" }, { "id": "MONDO:0008647", "name": "cardiomyopathy, hypertrophic, 1, digenic, Autosomal dominant, Digenic dominant" }, { "id": "MONDO:0008647", "name": "hypertrophic cardiomyopathy 1" }, { "id": "MONDO:0008647", "name": "hypertrophic cardiomyopathy caused by mutation in MYH7" }, { "id": "MONDO:0008647", "name": "hypertrophic cardiomyopathy type 1" }, { "id": "MONDO:0008647", "name": "cardiomyopathy, familial hypertrophic, 1" }, { "id": "MIM:192600", "name": "Cardiomyopathy, familial hypertrophic" } ], "record_url": "http://disease-ontology.org/term/DOID:0080326", "snv_count": 0, "protein_count": 88, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 8.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080327", "disease_id": "DOID:0080327", "recommended_name": "multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly", "synonyms": [ { "id": "DOID:0080327", "name": "MARCH" }, { "id": "MONDO:0009359", "name": "multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome" }, { "id": "MONDO:0009359", "name": "MARCH syndrome" }, { "id": "MONDO:0009359", "name": "hydranencephaly with renal aplasia-dysplasia" }, { "id": "MONDO:0009359", "name": "MARCH" }, { "id": "MIM:236500", "name": "Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly" } ], "record_url": "http://disease-ontology.org/term/DOID:0080327", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080328", "disease_id": "DOID:0080328", "recommended_name": "Culler-Jones syndrome", "synonyms": [ { "id": "MONDO:0014369", "name": "postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome" }, { "id": "MONDO:0014369", "name": "CJS" }, { "id": "MONDO:0014369", "name": "Culler-Jones syndrome" }, { "id": "MONDO:0014369", "name": "Pallister-Hall syndrome 2" }, { "id": "MIM:615849", "name": "Culler-Jones syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080328", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080329", "disease_id": "DOID:0080329", "recommended_name": "cold-induced sweating syndrome 1", "synonyms": [ { "id": "MONDO:0010091", "name": "Cold-induced sweating syndrome 1" }, { "id": "MONDO:0010091", "name": "Crisponi syndrome" }, { "id": "MONDO:0010091", "name": "cold-induced sweating syndrome type 1" }, { "id": "MONDO:0010091", "name": "CISS1" }, { "id": "MONDO:0010091", "name": "cold-induced sweating syndrome 1" }, { "id": "MONDO:0010091", "name": "Cold-induced sweating syndrome 1" }, { "id": "MONDO:0010091", "name": "Crisponi syndrome" }, { "id": "MONDO:0010091", "name": "cold-induced sweating syndrome type 1" }, { "id": "MONDO:0010091", "name": "CISS1" }, { "id": "MONDO:0010091", "name": "cold-induced sweating syndrome 1" }, { "id": "MIM:272430", "name": "Crisponi/Cold-induced sweating syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080329", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080330", "disease_id": "DOID:0080330", "recommended_name": "cold-induced sweating syndrome 2", "synonyms": [ { "id": "MONDO:0012467", "name": "cold-induced sweating syndrome 2" }, { "id": "MONDO:0012467", "name": "CLCF1 cold-induced sweating syndrome" }, { "id": "MONDO:0012467", "name": "cold-induced sweating syndrome 2" }, { "id": "MONDO:0012467", "name": "cold-induced sweating syndrome caused by mutation in CLCF1" }, { "id": "MONDO:0012467", "name": "cold-induced sweating syndrome type 2" }, { "id": "MONDO:0012467", "name": "CISS2" }, { "id": "MIM:610313", "name": "Crisponi/Cold-induced sweating syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080330", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080331", "disease_id": "DOID:0080331", "recommended_name": "cold-induced sweating syndrome 3", "synonyms": [ { "id": "MONDO:0014890", "name": "PERCHING syndrome" }, { "id": "MONDO:0014890", "name": "CISS3" }, { "id": "MONDO:0014890", "name": "KLHL7 cold-induced sweating syndrome" }, { "id": "MONDO:0014890", "name": "KLHL7-related bohring-opitz-like/cold-induced sweating-like overlap syndrome" }, { "id": "MONDO:0014890", "name": "PERCHING" }, { "id": "MONDO:0014890", "name": "cold-induced sweating syndrome caused by mutation in KLHL7" }, { "id": "MONDO:0014890", "name": "cold-induced sweating syndrome type 3" }, { "id": "MONDO:0014890", "name": "CRISPONI/cold-induced sweating syndrome 3" }, { "id": "MONDO:0014890", "name": "Crisponi/cold-induced sweating syndrome 3" }, { "id": "MIM:617055", "name": "Perching syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080331", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080332", "disease_id": "DOID:0080332", "recommended_name": "bicuspid aortic valve disease", "synonyms": [ { "id": "DOID:0080332", "name": "Familial bicuspid aortic valve" }, { "id": "MONDO:0024523", "name": "aortic valve disease 1" }, { "id": "MONDO:0024523", "name": "AOVD1" }, { "id": "MONDO:0024523", "name": "NOTCH1 aortic valve disease" }, { "id": "MONDO:0024523", "name": "Notch1 aortic valve disease" }, { "id": "MONDO:0024523", "name": "aortic valve disease 1" }, { "id": "MONDO:0024523", "name": "aortic valve disease caused by mutation in NOTCH1" }, { "id": "MONDO:0024523", "name": "aortic valve disease caused by mutation in Notch1" }, { "id": "MIM:109730", "name": "Aortic valve disease 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080332", "snv_count": 0, "protein_count": 12, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.3, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080333", "disease_id": "DOID:0080333", "recommended_name": "aortic valve disease 1", "synonyms": [ { "id": "MONDO:0024523", "name": "aortic valve disease 1" }, { "id": "MONDO:0024523", "name": "AOVD1" }, { "id": "MONDO:0024523", "name": "NOTCH1 aortic valve disease" }, { "id": "MONDO:0024523", "name": "Notch1 aortic valve disease" }, { "id": "MONDO:0024523", "name": "aortic valve disease 1" }, { "id": "MONDO:0024523", "name": "aortic valve disease caused by mutation in NOTCH1" }, { "id": "MONDO:0024523", "name": "aortic valve disease caused by mutation in Notch1" }, { "id": "MIM:109730", "name": "Aortic valve disease 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080333", "snv_count": 0, "protein_count": 15, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080334", "disease_id": "DOID:0080334", "recommended_name": "aortic valve disease 2", "synonyms": [ { "id": "MONDO:0013902", "name": "aortic valve disease 2" }, { "id": "MONDO:0013902", "name": "SMAD6 aortic valve disease" }, { "id": "MONDO:0013902", "name": "aortic valve disease 2" }, { "id": "MONDO:0013902", "name": "aortic valve disease caused by mutation in SMAD6" }, { "id": "MONDO:0013902", "name": "aortic valve disease type 2" }, { "id": "MONDO:0013902", "name": "AOVD2" }, { "id": "MIM:614823", "name": "Aortic valve disease 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080334", "snv_count": 0, "protein_count": 22, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.3, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080335", "disease_id": "DOID:0080335", "recommended_name": "mitochondrial DNA depletion syndrome 12b", "synonyms": [ { "id": "MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" }, { "id": "MONDO:0014175", "name": "MTDPS12B" }, { "id": "MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12" }, { "id": "MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR" }, { "id": "MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR" }, { "id": "MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" }, { "id": "MONDO:0014175", "name": "MTDPS12" }, { "id": "MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)" }, { "id": "MONDO:0014175", "name": "mitochondrial DNA depletion syndrome type 12" }, { "id": "MIM:615418", "name": "Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type" } ], "record_url": "http://disease-ontology.org/term/DOID:0080335", "snv_count": 0, "protein_count": 16, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080336", "disease_id": "DOID:0080336", "recommended_name": "mitochondrial DNA depletion syndrome 14", "synonyms": [ { "id": "MONDO:0014820", "name": "mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)" }, { "id": "MONDO:0014820", "name": "MTDPS14" }, { "id": "MONDO:0014820", "name": "OPA1 mitochondrial DNA depletion syndrome" }, { "id": "MONDO:0014820", "name": "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)" }, { "id": "MONDO:0014820", "name": "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14" }, { "id": "MONDO:0014820", "name": "mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)" }, { "id": "MONDO:0014820", "name": "mitochondrial DNA depletion syndrome caused by mutation in OPA1" }, { "id": "MIM:616896", "name": "Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type" } ], "record_url": "http://disease-ontology.org/term/DOID:0080336", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080337", "disease_id": "DOID:0080337", "recommended_name": "mitochondrial DNA depletion syndrome 15", "synonyms": [ { "id": "MONDO:0014943", "name": "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)" }, { "id": "MONDO:0014943", "name": "TFAM mitochondrial DNA depletion syndrome" }, { "id": "MONDO:0014943", "name": "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)" }, { "id": "MONDO:0014943", "name": "mitochondrial DNA depletion syndrome caused by mutation in TFAM" }, { "id": "MONDO:0014943", "name": "MTDPS15" }, { "id": "MIM:617156", "name": "Mitochondrial DNA depletion syndrome 15, hepatocerebral type" } ], "record_url": "http://disease-ontology.org/term/DOID:0080337", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080338", "disease_id": "DOID:0080338", "recommended_name": "familial erythrocytosis 3", "synonyms": [ { "id": "DOID:0080338", "name": "ECYT3" }, { "id": "MONDO:0012353", "name": "erythrocytosis, familial, 3" }, { "id": "MONDO:0012353", "name": "EGLN1 familial polycythemia" }, { "id": "MONDO:0012353", "name": "erythrocytosis, familial, 3" }, { "id": "MONDO:0012353", "name": "erythrocytosis, familial, type 3" }, { "id": "MONDO:0012353", "name": "familial polycythemia caused by mutation in EGLN1" }, { "id": "MONDO:0012353", "name": "ECYT3" }, { "id": "MIM:609820", "name": "Erythrocytosis, familial, 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080338", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080339", "disease_id": "DOID:0080339", "recommended_name": "familial erythrocytosis 4", "synonyms": [ { "id": "DOID:0080339", "name": "ECYT4" }, { "id": "MONDO:0012729", "name": "erythrocytosis, familial, 4" }, { "id": "MONDO:0012729", "name": "EPAS1 familial polycythemia" }, { "id": "MONDO:0012729", "name": "erythrocytosis, familial, 4" }, { "id": "MONDO:0012729", "name": "erythrocytosis, familial, type 4" }, { "id": "MONDO:0012729", "name": "familial polycythemia caused by mutation in EPAS1" }, { "id": "MONDO:0012729", "name": "ECYT4" }, { "id": "MIM:611783", "name": "Erythrocytosis, familial, 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080339", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080342", "disease_id": "DOID:0080342", "recommended_name": "Simpson-Golabi-Behmel syndrome type 2", "synonyms": [ { "id": "MONDO:0010265", "name": "Simpson-Golabi-Behmel syndrome type 2" }, { "id": "MONDO:0010265", "name": "OFD1 Simpson-Golabi-Behmel syndrome" }, { "id": "MONDO:0010265", "name": "SGBS2" }, { "id": "MONDO:0010265", "name": "Simpson-Golabi-Behmel syndrome caused by mutation in OFD1" }, { "id": "MONDO:0010265", "name": "Simpson-Golabi-Behmel syndrome, type 2, X-linked recessive" }, { "id": "MONDO:0010265", "name": "lethal variant of Simpson-Golabi-Behmel syndrome" }, { "id": "MIM:300209", "name": "Simpson-Golabi-Behmel syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080342", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080343", "disease_id": "DOID:0080343", "recommended_name": "autosomal recessive pyridoxine-refractory sideroblastic anemia 3", "synonyms": [ { "id": "MONDO:0014804", "name": "sideroblastic anemia 3" }, { "id": "MONDO:0014804", "name": "GLRX5-related sideroblastic anaemia" }, { "id": "MONDO:0014804", "name": "GLRX5-related sideroblastic anemia" }, { "id": "MONDO:0014804", "name": "SIDBA3" }, { "id": "MONDO:0014804", "name": "adult-onset autosomal recessive sideroblastic anaemia" }, { "id": "MONDO:0014804", "name": "adult-onset autosomal recessive sideroblastic anemia" }, { "id": "MONDO:0014804", "name": "anemia, sideroblastic, 3, pyridoxine-refractory" }, { "id": "MIM:616860", "name": "Anemia, sideroblastic, 3, pyridoxine-refractory" } ], "record_url": "http://disease-ontology.org/term/DOID:0080343", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080344", "disease_id": "DOID:0080344", "recommended_name": "blepharocheilodontic syndrome", "synonyms": [ { "id": "DOID:0080344", "name": "Blepharo-cheilo-odontic syndrome" }, { "id": "MONDO:0054740", "name": "blepharocheilodontic syndrome 1" }, { "id": "MONDO:0054740", "name": "CDH1 blepharo-cheilo-odontic syndrome" }, { "id": "MONDO:0054740", "name": "blepharo-cheilo-odontic syndrome caused by mutation in CDH1" }, { "id": "MONDO:0054740", "name": "blepharocheilodontic syndrome 1" }, { "id": "MONDO:0054740", "name": "BCDS1" }, { "id": "MIM:119580", "name": "Blepharocheilodontic syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080344", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0080345", "disease_id": "DOID:0080345", "recommended_name": "blepharocheilodontic syndrome 1", "synonyms": [ { "id": "MONDO:0054740", "name": "blepharocheilodontic syndrome 1" }, { "id": "MONDO:0054740", "name": "CDH1 blepharo-cheilo-odontic syndrome" }, { "id": "MONDO:0054740", "name": "blepharo-cheilo-odontic syndrome caused by mutation in CDH1" }, { "id": "MONDO:0054740", "name": "blepharocheilodontic syndrome 1" }, { "id": "MONDO:0054740", "name": "BCDS1" }, { "id": "MIM:119580", "name": "Blepharocheilodontic syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080345", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080346", "disease_id": "DOID:0080346", "recommended_name": "blepharocheilodontic syndrome 2", "synonyms": [ { "id": "MONDO:0040503", "name": "blepharocheilodontic syndrome 2" }, { "id": "MONDO:0040503", "name": "CTNND1 blepharo-cheilo-odontic syndrome" }, { "id": "MONDO:0040503", "name": "blepharo-cheilo-odontic syndrome caused by mutation in CTNND1" }, { "id": "MONDO:0040503", "name": "BCDS2" }, { "id": "MIM:617681", "name": "Blepharocheilodontic syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080346", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080348", "disease_id": "DOID:0080348", "recommended_name": "Alzheimer's disease 1", "synonyms": [ { "id": "DOID:0080348", "name": "Alzheimer's disease 1, early onset" }, { "id": "MONDO:0007088", "name": "Alzheimer disease type 1" }, { "id": "MONDO:0007088", "name": "early-onset familial form of Alzheimer disease" }, { "id": "MONDO:0007088", "name": "AD1" }, { "id": "MONDO:0007088", "name": "Alzheimer disease 1, familial" }, { "id": "MONDO:0007088", "name": "Alzheimer disease, familial, 1" }, { "id": "MONDO:0007088", "name": "AD" }, { "id": "MONDO:0007088", "name": "Alzheimer disease 1" }, { "id": "MIM:104300", "name": "Alzheimer disease 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080348", "snv_count": 0, "protein_count": 41, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 4.2, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080349", "disease_id": "DOID:0080349", "recommended_name": "developmental and epileptic encephalopathy 39", "synonyms": [ { "id": "DOID:0080349", "name": "early infantile epileptic encephalopathy 39" }, { "id": "DOID:0080349", "name": "epileptic encephalopathy with global cerebral demyelination" }, { "id": "DOID:0080349", "name": "AGC1 deficiency" }, { "id": "MONDO:0013056", "name": "developmental and epileptic encephalopathy, 39" }, { "id": "MONDO:0013056", "name": "AGC1 deficiency" }, { "id": "MONDO:0013056", "name": "DEE39" }, { "id": "MONDO:0013056", "name": "EIEE39" }, { "id": "MONDO:0013056", "name": "SLC25A12 early infantile epileptic encephalopathy" }, { "id": "MONDO:0013056", "name": "early infantile epileptic encephalopathy caused by mutation in SLC25A12" }, { "id": "MONDO:0013056", "name": "epileptic encephalopathy with global cerebral demyelination" }, { "id": "MONDO:0013056", "name": "epileptic encephalopathy, early infantile, 39" }, { "id": "MONDO:0013056", "name": "mitochondrial aspartate-glutamate carrier 1 deficiency" }, { "id": "MIM:612949", "name": "Developmental and epileptic encephalopathy 39 with leukodystrophy" } ], "record_url": "http://disease-ontology.org/term/DOID:0080349", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080350", "disease_id": "DOID:0080350", "recommended_name": "retinitis pigmentosa 77", "synonyms": [ { "id": "MONDO:0015013", "name": "retinitis pigmentosa 77" }, { "id": "MONDO:0015013", "name": "REEP6 retinitis pigmentosa" }, { "id": "MONDO:0015013", "name": "retinitis pigmentosa 77" }, { "id": "MONDO:0015013", "name": "retinitis pigmentosa caused by mutation in REEP6" }, { "id": "MONDO:0015013", "name": "retinitis pigmentosa type 77" }, { "id": "MONDO:0015013", "name": "RP77" }, { "id": "MIM:617304", "name": "Retinitis pigmentosa 77" } ], "record_url": "http://disease-ontology.org/term/DOID:0080350", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080351", "disease_id": "DOID:0080351", "recommended_name": "CLOVES syndrome", "synonyms": [ { "id": "DOID:0080351", "name": "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi" }, { "id": "MONDO:0013038", "name": "CLOVES syndrome" }, { "id": "MONDO:0013038", "name": "CLOVE syndrome, somatic" }, { "id": "MONDO:0013038", "name": "CLOVES syndrome" }, { "id": "MONDO:0013038", "name": "congenital lipomatous overgrowth, vascular malformations, and epidermal nevi" }, { "id": "MONDO:0013038", "name": "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome" }, { "id": "MONDO:0013038", "name": "congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome" }, { "id": "MONDO:0013038", "name": "congenital lipomatous overgrowth - vascular malformation - epidermal nevi" }, { "id": "MIM:612918", "name": "Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi" } ], "record_url": "http://disease-ontology.org/term/DOID:0080351", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080352", "disease_id": "DOID:0080352", "recommended_name": "X-linked chondrodysplasia punctata 2", "synonyms": [ { "id": "DOID:0080352", "name": "Conradi-Hunermann Syndrome" }, { "id": "DOID:0080352", "name": "Happle syndrome" }, { "id": "MONDO:0020603", "name": "X-linked chondrodysplasia punctata 2" }, { "id": "MONDO:0020603", "name": "CDPX2" }, { "id": "MONDO:0020603", "name": "CDPXD" }, { "id": "MONDO:0020603", "name": "Conrad Hunermann Happle syndrome" }, { "id": "MONDO:0020603", "name": "Conradi Hunermann syndrome" }, { "id": "MONDO:0020603", "name": "Conradi Hnermann Syndrome" }, { "id": "MONDO:0020603", "name": "Conradi-Hunermann syndrome" }, { "id": "MONDO:0020603", "name": "Conradi-Hunermann-Happle syndrome" }, { "id": "MONDO:0020603", "name": "Conradi-Hnermann-Happle syndrome" }, { "id": "MONDO:0020603", "name": "EBP chondrodysplasia punctata" }, { "id": "MONDO:0020603", "name": "Happle syndrome" }, { "id": "MONDO:0020603", "name": "X-linked chondrodysplasia punctata type 2" }, { "id": "MONDO:0020603", "name": "chondrodysplasia punctata 2 X-linked dominant" }, { "id": "MONDO:0020603", "name": "chondrodysplasia punctata 2, X-linked dominant" }, { "id": "MONDO:0020603", "name": "chondrodysplasia punctata caused by mutation in EBP" }, { "id": "MONDO:0020603", "name": "chondrodysplasia punctata, X-linked dominant, X-linked dominant" }, { "id": "MIM:302960", "name": "Chondrodysplasia punctata 2, X-linked dominant" } ], "record_url": "http://disease-ontology.org/term/DOID:0080352", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080353", "disease_id": "DOID:0080353", "recommended_name": "X-linked recessive hypophosphatemic rickets", "synonyms": [ { "id": "MONDO:0010358", "name": "hypophosphatemic rickets, X-linked recessive" }, { "id": "MONDO:0010358", "name": "CLCN5 X-linked hypophosphatemic rickets" }, { "id": "MONDO:0010358", "name": "X-linked hypophosphatemic rickets caused by mutation in CLCN5" }, { "id": "MONDO:0010358", "name": "hypophosphatemic rickets, X-linked recessive" }, { "id": "MIM:300554", "name": "Hypophosphatemic rickets, X-linked recessive" } ], "record_url": "http://disease-ontology.org/term/DOID:0080353", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080354", "disease_id": "DOID:0080354", "recommended_name": "Phelan-McDermid syndrome", "synonyms": [ { "id": "DOID:0080354", "name": "22q13.3 deletion syndrome" }, { "id": "DOID:0080354", "name": "monosomy 22q13 syndrome" }, { "id": "MONDO:0011652", "name": "Phelan-McDermid syndrome" }, { "id": "MONDO:0011652", "name": "PHMDS" }, { "id": "MONDO:0011652", "name": "Phelan McDermid syndrome" }, { "id": "MONDO:0011652", "name": "Phelan-McDermid syndrome" }, { "id": "MONDO:0011652", "name": "22q13 deletion" }, { "id": "MONDO:0011652", "name": "monosomy 22q13" }, { "id": "MONDO:0011652", "name": "monosomy type 22q13" }, { "id": "MONDO:0011652", "name": "22q13.3 deletion syndrome" }, { "id": "MONDO:0011652", "name": "deletion 22q13.3 syndrome" }, { "id": "MIM:606232", "name": "Phelan-McDermid syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080354", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080356", "disease_id": "DOID:0080356", "recommended_name": "IgG4-related disease", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080356", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080357", "disease_id": "DOID:0080357", "recommended_name": "mitochondrial complex IV deficiency nuclear type 2", "synonyms": [ { "id": "DOID:0080357", "name": "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1" }, { "id": "DOID:0080357", "name": "MC4DN2" }, { "id": "MONDO:0011451", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" }, { "id": "MONDO:0011451", "name": "SCO2 fatal infantile encephalocardiomyopathy" }, { "id": "MONDO:0011451", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1" }, { "id": "MONDO:0011451", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" }, { "id": "MONDO:0011451", "name": "fatal infantile encephalocardiomyopathy caused by mutation in SCO2" }, { "id": "MONDO:0011451", "name": "mitochondrial complex IV deficiency, nuclear type 2" }, { "id": "MONDO:0011451", "name": "CEMCOX1" }, { "id": "MIM:604377", "name": "Mitochondrial complex IV deficiency, nuclear type 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080357", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080358", "disease_id": "DOID:0080358", "recommended_name": "mitochondrial complex IV deficiency nuclear type 6", "synonyms": [ { "id": "DOID:0080358", "name": "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2" }, { "id": "DOID:0080358", "name": "MC4DN6" }, { "id": "MONDO:0014051", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2" }, { "id": "MONDO:0014051", "name": "COX15 fatal infantile encephalocardiomyopathy" }, { "id": "MONDO:0014051", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2" }, { "id": "MONDO:0014051", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2" }, { "id": "MONDO:0014051", "name": "fatal infantile encephalocardiomyopathy caused by mutation in COX15" }, { "id": "MONDO:0014051", "name": "mitochondrial complex IV deficiency, nuclear type 6" }, { "id": "MONDO:0014051", "name": "CEMCOX2" }, { "id": "MIM:615119", "name": "Mitochondrial complex IV deficiency, nuclear type 6" } ], "record_url": "http://disease-ontology.org/term/DOID:0080358", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080359", "disease_id": "DOID:0080359", "recommended_name": "mitochondrial complex IV deficiency nuclear type 9", "synonyms": [ { "id": "DOID:0080359", "name": "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3" }, { "id": "DOID:0080359", "name": "MC4DN9" }, { "id": "MONDO:0014667", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3" }, { "id": "MONDO:0014667", "name": "COA5 fatal infantile encephalocardiomyopathy" }, { "id": "MONDO:0014667", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3" }, { "id": "MONDO:0014667", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3" }, { "id": "MONDO:0014667", "name": "fatal infantile encephalocardiomyopathy caused by mutation in COA5" }, { "id": "MONDO:0014667", "name": "mitochondrial complex IV, deficiency, nuclear type 9" }, { "id": "MONDO:0014667", "name": "CEMCOX3" }, { "id": "MIM:616500", "name": "Mitochondrial complex IV deficiency, nuclear type 9" } ], "record_url": "http://disease-ontology.org/term/DOID:0080359", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080360", "disease_id": "DOID:0080360", "recommended_name": "mitochondrial complex IV deficiency nuclear type 13", "synonyms": [ { "id": "DOID:0080360", "name": "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4" }, { "id": "DOID:0080360", "name": "MC4DN13" }, { "id": "MONDO:0014668", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4" }, { "id": "MONDO:0014668", "name": "COA6 fatal infantile encephalocardiomyopathy" }, { "id": "MONDO:0014668", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4" }, { "id": "MONDO:0014668", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4" }, { "id": "MONDO:0014668", "name": "fatal infantile encephalocardiomyopathy caused by mutation in COA6" }, { "id": "MONDO:0014668", "name": "mitochondrial complex IV deficiency, nuclear type 13" }, { "id": "MONDO:0014668", "name": "CEMCOX4" }, { "id": "MIM:616501", "name": "Mitochondrial complex IV deficiency, nuclear type 13" } ], "record_url": "http://disease-ontology.org/term/DOID:0080360", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080361", "disease_id": "DOID:0080361", "recommended_name": "trimethylaminuria", "synonyms": [ { "id": "DOID:0080361", "name": "fish-odor syndrome" }, { "id": "MONDO:0018767", "name": "severe primary trimethylaminuria" }, { "id": "MONDO:0018767", "name": "trimethylaminuria" }, { "id": "MONDO:0018767", "name": "TMAU" }, { "id": "MONDO:0018767", "name": "TMAuria" }, { "id": "MONDO:0018767", "name": "fish malodor syndrome" }, { "id": "MONDO:0018767", "name": "fish odor syndrome" }, { "id": "MONDO:0018767", "name": "fish odour syndrome" }, { "id": "MONDO:0018767", "name": "stale fish syndrome" }, { "id": "MIM:602079", "name": "Trimethylaminuria" } ], "record_url": "http://disease-ontology.org/term/DOID:0080361", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080362", "disease_id": "DOID:0080362", "recommended_name": "X-linked spondyloepiphyseal dysplasia tarda", "synonyms": [ { "id": "MONDO:0010737", "name": "spondyloepiphyseal dysplasia tarda, X-linked" }, { "id": "MONDO:0010737", "name": "spondyloepiphyseal dysplasia tarda, X-linked" }, { "id": "MONDO:0010737", "name": "spondyloepiphyseal dysplasia tarda, X-linked recessive" }, { "id": "MONDO:0010737", "name": "SED" }, { "id": "MONDO:0010737", "name": "SEDT" }, { "id": "MONDO:0010737", "name": "X linked spondyloepiphyseal dysplasia tarda" }, { "id": "MONDO:0010737", "name": "X-linked spondyloepiphyseal dysplasia" }, { "id": "MONDO:0010737", "name": "spondyloepiphyseal dysplasia tarda X-linked" }, { "id": "MIM:313400", "name": "Spondyloepiphyseal dysplasia tarda" } ], "record_url": "http://disease-ontology.org/term/DOID:0080362", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080363", "disease_id": "DOID:0080363", "recommended_name": "mitochondrial pyruvate carrier deficiency", "synonyms": [ { "id": "MONDO:0013877", "name": "mitochondrial pyruvate carrier deficiency" }, { "id": "MONDO:0013877", "name": "mitochondrial pyruvate carrier deficiency" }, { "id": "MONDO:0013877", "name": "MPYCD" }, { "id": "MIM:614741", "name": "Mitochondrial pyruvate carrier deficiency" } ], "record_url": "http://disease-ontology.org/term/DOID:0080363", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080365", "disease_id": "DOID:0080365", "recommended_name": "endometrial hyperplasia", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080365", "snv_count": 0, "protein_count": 49, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 5.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080376", "disease_id": "DOID:0080376", "recommended_name": "trichorhinophalangeal syndrome type III", "synonyms": [ { "id": "DOID:0080376", "name": "trichorhinophalangeal syndrome type 3" }, { "id": "MONDO:0008597", "name": "obsolete trichorhinophalangeal syndrome, type III" }, { "id": "MONDO:0008597", "name": "TRPS 3" }, { "id": "MONDO:0008597", "name": "TRPS3" }, { "id": "MONDO:0008597", "name": "Trichorhinophalangeal Syndrome Type III" }, { "id": "MONDO:0008597", "name": "trichorhinophalangeal syndrome type 3" }, { "id": "MONDO:0008597", "name": "trichorhinophalangeal syndrome, type 3" }, { "id": "MONDO:0008597", "name": "trichorhinophalangeal syndrome, type III" }, { "id": "MIM:190351", "name": "Tricho-rhino-phalangeal syndrome 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080376", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080377", "disease_id": "DOID:0080377", "recommended_name": "peroxisomal biogenesis disorder", "synonyms": [ { "id": "MONDO:0008953", "name": "peroxisome biogenesis disorder 1A (Zellweger)" }, { "id": "MONDO:0008953", "name": "peroxisome biogenesis disorder 1A (Zellweger)" }, { "id": "MONDO:0008953", "name": "PBD1A" }, { "id": "MIM:214100", "name": "Peroxisome biogenesis disorder 1A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080377", "snv_count": 0, "protein_count": 36, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 3.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080379", "disease_id": "DOID:0080379", "recommended_name": "nephrotic syndrome type 2", "synonyms": [ { "id": "DOID:0080379", "name": "steroid-resistant autosomal recessive nephrotic syndrome" }, { "id": "MONDO:0010974", "name": "nephrotic syndrome, type 2" }, { "id": "MONDO:0010974", "name": "NPHS2 nephrotic syndrome" }, { "id": "MONDO:0010974", "name": "nephrotic syndrome caused by mutation in NPHS2" }, { "id": "MONDO:0010974", "name": "nephrotic syndrome, type 2" }, { "id": "MONDO:0010974", "name": "NPHS2" }, { "id": "MONDO:0010974", "name": "SRN1" }, { "id": "MONDO:0010974", "name": "nephrotic syndrome, idiopathic, steroid-resistant" }, { "id": "MIM:600995", "name": "Nephrotic syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080379", "snv_count": 0, "protein_count": 24, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080380", "disease_id": "DOID:0080380", "recommended_name": "nephrotic syndrome type 5", "synonyms": [ { "id": "DOID:0080380", "name": "nephrotic syndrome type 5, with or without ocular abnormalities" }, { "id": "MONDO:0013621", "name": "LAMB2-related infantile-onset nephrotic syndrome" }, { "id": "MONDO:0013621", "name": "mesangial sclerosis, diffuse renal, with ocular abnormalities" }, { "id": "MONDO:0013621", "name": "NPHS5" }, { "id": "MONDO:0013621", "name": "nephrotic syndrome, type 5, with or without ocular abnormalities" }, { "id": "MONDO:0013621", "name": "LAMB2-related infantile-onset nephrotic syndrome" }, { "id": "MONDO:0013621", "name": "mesangial sclerosis, diffuse renal, with ocular abnormalities" }, { "id": "MONDO:0013621", "name": "NPHS5" }, { "id": "MONDO:0013621", "name": "nephrotic syndrome, type 5, with or without ocular abnormalities" }, { "id": "MIM:614199", "name": "Nephrotic syndrome 5, with or without ocular abnormalities" } ], "record_url": "http://disease-ontology.org/term/DOID:0080380", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080381", "disease_id": "DOID:0080381", "recommended_name": "nephrotic syndrome type 13", "synonyms": [ { "id": "MONDO:0014818", "name": "nephrotic syndrome, type 13" }, { "id": "MONDO:0014818", "name": "NPHS13" }, { "id": "MONDO:0014818", "name": "NUP205 familial nephrotic syndrome" }, { "id": "MONDO:0014818", "name": "familial nephrotic syndrome caused by mutation in NUP205" }, { "id": "MONDO:0014818", "name": "nephrotic syndrome, type 13" }, { "id": "MONDO:0014818", "name": "nephrotic syndrome, type 13; NPHS13" }, { "id": "MIM:616893", "name": "Nephrotic syndrome 13" } ], "record_url": "http://disease-ontology.org/term/DOID:0080381", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001001011" }, { "record_id": "doid.0080382", "disease_id": "DOID:0080382", "recommended_name": "nephrotic syndrome type 3", "synonyms": [ { "id": "DOID:0080382", "name": "early onset nephrotic syndrome type 3" }, { "id": "MONDO:0012546", "name": "nephrotic syndrome, type 3" }, { "id": "MONDO:0012546", "name": "PLCE1 nephrotic syndrome" }, { "id": "MONDO:0012546", "name": "nephrotic syndrome caused by mutation in PLCE1" }, { "id": "MONDO:0012546", "name": "nephrotic syndrome, type 3" }, { "id": "MONDO:0012546", "name": "NPHS3" }, { "id": "MIM:610725", "name": "Nephrotic syndrome 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080382", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080383", "disease_id": "DOID:0080383", "recommended_name": "nephrotic syndrome type 4", "synonyms": [ { "id": "MONDO:0009733", "name": "nephrotic syndrome, type 4" }, { "id": "MONDO:0009733", "name": "WT1 nephrotic syndrome" }, { "id": "MONDO:0009733", "name": "congenital nephrotic syndrome - diffuse mesangial sclerosis" }, { "id": "MONDO:0009733", "name": "nephrotic syndrome caused by mutation in WT1" }, { "id": "MONDO:0009733", "name": "nephrotic syndrome, type 4" }, { "id": "MONDO:0009733", "name": "DMS" }, { "id": "MONDO:0009733", "name": "NPHS4" }, { "id": "MONDO:0009733", "name": "diffuse isolated mesangial sclerosis" }, { "id": "MONDO:0009733", "name": "diffuse mesangial sclerosis" }, { "id": "MONDO:0009733", "name": "familial mesangial sclerosis" }, { "id": "MONDO:0009733", "name": "isolated diffuse mesangial sclerosis" }, { "id": "MONDO:0009733", "name": "mesangial sclerosis, diffuse" }, { "id": "MONDO:0009733", "name": "nephrotic syndrome, early onset with diffuse mesangial sclerosis" }, { "id": "MIM:256370", "name": "Nephrotic syndrome 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080383", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080384", "disease_id": "DOID:0080384", "recommended_name": "nephrotic syndrome type 6", "synonyms": [ { "id": "MONDO:0013619", "name": "nephrotic syndrome, type 6" }, { "id": "MONDO:0013619", "name": "PTPRO nephrotic syndrome" }, { "id": "MONDO:0013619", "name": "nephrotic syndrome caused by mutation in PTPRO" }, { "id": "MONDO:0013619", "name": "nephrotic syndrome, type 6" }, { "id": "MONDO:0013619", "name": "NPHS6" }, { "id": "MIM:614196", "name": "Nephrotic syndrome 6" } ], "record_url": "http://disease-ontology.org/term/DOID:0080384", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080385", "disease_id": "DOID:0080385", "recommended_name": "nephrotic syndrome type 11", "synonyms": [ { "id": "MONDO:0014752", "name": "nephrotic syndrome, type 11" }, { "id": "MONDO:0014752", "name": "NPHS11" }, { "id": "MONDO:0014752", "name": "NUP107 familial nephrotic syndrome" }, { "id": "MONDO:0014752", "name": "Nup107 familial nephrotic syndrome" }, { "id": "MONDO:0014752", "name": "familial nephrotic syndrome caused by mutation in NUP107" }, { "id": "MONDO:0014752", "name": "familial nephrotic syndrome caused by mutation in Nup107" }, { "id": "MONDO:0014752", "name": "nephrotic syndrome, type 11" }, { "id": "MONDO:0014752", "name": "nephrotic syndrome, type 11; NPHS11" }, { "id": "MIM:616730", "name": "Nephrotic syndrome 11" } ], "record_url": "http://disease-ontology.org/term/DOID:0080385", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080386", "disease_id": "DOID:0080386", "recommended_name": "nephrotic syndrome type 10", "synonyms": [ { "id": "MONDO:0014373", "name": "nephrotic syndrome, type 10" }, { "id": "MONDO:0014373", "name": "EMP2 nephrotic syndrome" }, { "id": "MONDO:0014373", "name": "nephrotic syndrome caused by mutation in EMP2" }, { "id": "MONDO:0014373", "name": "nephrotic syndrome, type 10" }, { "id": "MONDO:0014373", "name": "NPHS10" }, { "id": "MIM:615861", "name": "Nephrotic syndrome 10" } ], "record_url": "http://disease-ontology.org/term/DOID:0080386", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080387", "disease_id": "DOID:0080387", "recommended_name": "nephrotic syndrome type 12", "synonyms": [ { "id": "MONDO:0014817", "name": "nephrotic syndrome, type 12" }, { "id": "MONDO:0014817", "name": "NPHS12" }, { "id": "MONDO:0014817", "name": "NUP93 familial nephrotic syndrome" }, { "id": "MONDO:0014817", "name": "familial nephrotic syndrome caused by mutation in NUP93" }, { "id": "MONDO:0014817", "name": "nephrotic syndrome, type 12" }, { "id": "MONDO:0014817", "name": "nephrotic syndrome, type 12; NPHS12" }, { "id": "MIM:616892", "name": "Nephrotic syndrome 12" } ], "record_url": "http://disease-ontology.org/term/DOID:0080387", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080388", "disease_id": "DOID:0080388", "recommended_name": "nephrotic syndrome type 7", "synonyms": [ { "id": "DOID:0080388", "name": "Ig-mediated MPGN" }, { "id": "DOID:0080388", "name": "Immunoglobulin-mediated MPGN" }, { "id": "DOID:0080388", "name": "nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis" }, { "id": "DOID:0080388", "name": "immunoglobulin-mediated membranoproliferative glomerulonephritis" }, { "id": "DOID:0080388", "name": "Ig-mediated membranoproliferative glomerulonephritis" }, { "id": "MONDO:0014005", "name": "immunoglobulin-mediated membranoproliferative glomerulonephritis" }, { "id": "MONDO:0014005", "name": "Ig-mediated MPGN" }, { "id": "MONDO:0014005", "name": "Ig-mediated membranoproliferative glomerulonephritis" }, { "id": "MONDO:0014005", "name": "NPHS7" }, { "id": "MONDO:0014005", "name": "immune complex mediated membranoproliferative glomerulonephritis" }, { "id": "MONDO:0014005", "name": "immunoglobulin-mediated MPGN" }, { "id": "MONDO:0014005", "name": "immunoglobulin-mediated membranoproliferative glomerulonephritis" }, { "id": "MONDO:0014005", "name": "membranoproliferative glomerulonephritis type I" }, { "id": "MONDO:0014005", "name": "mesangiocapillary glomerulonephritis type 1" }, { "id": "MONDO:0014005", "name": "nephrotic syndrome, type 7" }, { "id": "MONDO:0014005", "name": "nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis" }, { "id": "MIM:615008", "name": "Nephrotic syndrome 7" } ], "record_url": "http://disease-ontology.org/term/DOID:0080388", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080389", "disease_id": "DOID:0080389", "recommended_name": "nephrotic syndrome type 8", "synonyms": [ { "id": "MONDO:0014099", "name": "nephrotic syndrome, type 8" }, { "id": "MONDO:0014099", "name": "ARHGDIA nephrotic syndrome" }, { "id": "MONDO:0014099", "name": "nephrotic syndrome caused by mutation in ARHGDIA" }, { "id": "MONDO:0014099", "name": "nephrotic syndrome, type 8" }, { "id": "MONDO:0014099", "name": "NPHS8" }, { "id": "MIM:615244", "name": "Nephrotic syndrome 8" } ], "record_url": "http://disease-ontology.org/term/DOID:0080389", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080390", "disease_id": "DOID:0080390", "recommended_name": "nephrotic syndrome type 1", "synonyms": [ { "id": "DOID:0080390", "name": "Finnish congenital nephrosis" }, { "id": "MONDO:0009732", "name": "congenital nephrotic syndrome, Finnish type" }, { "id": "MONDO:0009732", "name": "Finnish congenital nephrosis" }, { "id": "MONDO:0009732", "name": "congenital nephrotic syndrome - Finnish type" }, { "id": "MONDO:0009732", "name": "congenital nephrotic syndrome, Finnish type" }, { "id": "MONDO:0009732", "name": "nephrotic syndrome - NPHS1 associated" }, { "id": "MONDO:0009732", "name": "CnF" }, { "id": "MONDO:0009732", "name": "NPHS1" }, { "id": "MONDO:0009732", "name": "congenital nephrotic syndrome 1" }, { "id": "MONDO:0009732", "name": "congenital nephrotic syndrome Finnish type" }, { "id": "MONDO:0009732", "name": "nephrosis 1, congenital, Finnish type" }, { "id": "MONDO:0009732", "name": "nephrosis, congenital" }, { "id": "MONDO:0009732", "name": "nephrotic syndrome, type 1" }, { "id": "MIM:256300", "name": "Nephrotic syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080390", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080391", "disease_id": "DOID:0080391", "recommended_name": "nephrotic syndrome type 9", "synonyms": [ { "id": "MONDO:0014257", "name": "nephrotic syndrome, type 9" }, { "id": "MONDO:0014257", "name": "COQ8B nephrotic syndrome" }, { "id": "MONDO:0014257", "name": "nephrotic syndrome caused by mutation in COQ8B" }, { "id": "MONDO:0014257", "name": "nephrotic syndrome, type 9" }, { "id": "MONDO:0014257", "name": "NPHS9" }, { "id": "MIM:615573", "name": "Nephrotic syndrome 9" } ], "record_url": "http://disease-ontology.org/term/DOID:0080391", "snv_count": 0, "protein_count": 11, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.2, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080392", "disease_id": "DOID:0080392", "recommended_name": "nephrotic syndrome type 17", "synonyms": [ { "id": "MONDO:0032580", "name": "nephrotic syndrome, type 17" }, { "id": "MONDO:0032580", "name": "NPHS17" }, { "id": "MIM:618176", "name": "Nephrotic syndrome 17" } ], "record_url": "http://disease-ontology.org/term/DOID:0080392", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080393", "disease_id": "DOID:0080393", "recommended_name": "nephrotic syndrome type 18", "synonyms": [ { "id": "MONDO:0032581", "name": "nephrotic syndrome, type 18" }, { "id": "MONDO:0032581", "name": "NPHS18" }, { "id": "MIM:618177", "name": "Nephrotic syndrome 18" } ], "record_url": "http://disease-ontology.org/term/DOID:0080393", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080394", "disease_id": "DOID:0080394", "recommended_name": "nephrotic syndrome type 19", "synonyms": [ { "id": "MONDO:0032582", "name": "nephrotic syndrome, type 19" }, { "id": "MONDO:0032582", "name": "NPHS19" }, { "id": "MIM:618178", "name": "Nephrotic syndrome 19" } ], "record_url": "http://disease-ontology.org/term/DOID:0080394", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080399", "disease_id": "DOID:0080399", "recommended_name": "orofacial cleft 5", "synonyms": [ { "id": "DOID:0080399", "name": "nonsyndromic cleft lip with or without cleft palate 5" }, { "id": "MONDO:0012142", "name": "orofacial cleft 5" }, { "id": "MONDO:0012142", "name": "MSX1 orofacial cleft" }, { "id": "MONDO:0012142", "name": "orofacial cleft 5" }, { "id": "MONDO:0012142", "name": "orofacial cleft caused by mutation in MSX1" }, { "id": "MONDO:0012142", "name": "orofacial cleft type 5" }, { "id": "MONDO:0012142", "name": "OFC5" }, { "id": "MIM:608874", "name": "Non-syndromic orofacial cleft 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0080399", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080401", "disease_id": "DOID:0080401", "recommended_name": "orofacial cleft 8", "synonyms": [ { "id": "MONDO:0029145", "name": "orofacial cleft 8" }, { "id": "MONDO:0029145", "name": "OFC8" }, { "id": "MIM:618149", "name": "Orofacial cleft 8" } ], "record_url": "http://disease-ontology.org/term/DOID:0080401", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080403", "disease_id": "DOID:0080403", "recommended_name": "orofacial cleft 10", "synonyms": [ { "id": "DOID:0080403", "name": "nonsyndromic cleft lip with or without cleft palate 10" }, { "id": "MONDO:0013378", "name": "orofacial cleft 10" }, { "id": "MONDO:0013378", "name": "SUMO1 orofacial cleft" }, { "id": "MONDO:0013378", "name": "orofacial cleft 10" }, { "id": "MONDO:0013378", "name": "orofacial cleft 10, isolated cases" }, { "id": "MONDO:0013378", "name": "orofacial cleft caused by mutation in SUMO1" }, { "id": "MONDO:0013378", "name": "orofacial cleft type 10" }, { "id": "MONDO:0013378", "name": "OFC10" }, { "id": "MIM:613705", "name": "Non-syndromic orofacial cleft 10" } ], "record_url": "http://disease-ontology.org/term/DOID:0080403", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080404", "disease_id": "DOID:0080404", "recommended_name": "orofacial cleft 11", "synonyms": [ { "id": "DOID:0080404", "name": "nonsyndromic cleft lip with or without cleft palate 11" }, { "id": "MONDO:0010906", "name": "orofacial cleft 11" }, { "id": "MONDO:0010906", "name": "BMP4 orofacial cleft" }, { "id": "MONDO:0010906", "name": "orofacial cleft 11" }, { "id": "MONDO:0010906", "name": "orofacial cleft caused by mutation in BMP4" }, { "id": "MONDO:0010906", "name": "orofacial cleft type 11" }, { "id": "MONDO:0010906", "name": "OFC11" }, { "id": "MIM:600625", "name": "Non-syndromic orofacial cleft 11" } ], "record_url": "http://disease-ontology.org/term/DOID:0080404", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080408", "disease_id": "DOID:0080408", "recommended_name": "orofacial cleft 15", "synonyms": [ { "id": "MONDO:0014772", "name": "orofacial cleft 15" }, { "id": "MONDO:0014772", "name": "DLX4 cleft lip/palate" }, { "id": "MONDO:0014772", "name": "OFC15" }, { "id": "MONDO:0014772", "name": "cleft lip/palate caused by mutation in DLX4" }, { "id": "MONDO:0014772", "name": "orofacial cleft 15" }, { "id": "MONDO:0014772", "name": "orofacial cleft type 15" }, { "id": "MIM:616788", "name": "Non-syndromic orofacial cleft 15" } ], "record_url": "http://disease-ontology.org/term/DOID:0080408", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080409", "disease_id": "DOID:0080409", "recommended_name": "familial adenomatous polyposis 1", "synonyms": [ { "id": "DOID:0080409", "name": "adenocarcinoma in adenomatous polyposis coli" }, { "id": "MONDO:0021056", "name": "familial adenomatous polyposis 1" }, { "id": "MONDO:0021056", "name": "adenomatous polyposis coli" }, { "id": "MONDO:0021056", "name": "APC-related adenomatous polyposis" }, { "id": "MONDO:0021056", "name": "FAP1" }, { "id": "MONDO:0021056", "name": "adenoma, periampullary, somatic" }, { "id": "MONDO:0021056", "name": "familial adenomatous polyposis 1" }, { "id": "MIM:175100", "name": "Familial adenomatous polyposis 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080409", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080410", "disease_id": "DOID:0080410", "recommended_name": "familial adenomatous polyposis 2", "synonyms": [ { "id": "DOID:0080410", "name": "MUTYH-related attenuated familial adenomatous polyposis" }, { "id": "DOID:0080410", "name": "MUTYH-related attenuated FAP" }, { "id": "DOID:0080410", "name": "MUTYH-related attenuated familial polyposis coli" }, { "id": "DOID:0080410", "name": "MUTYH-associated polyposis" }, { "id": "MONDO:0012041", "name": "familial adenomatous polyposis 2" }, { "id": "MONDO:0012041", "name": "FAP2" }, { "id": "MONDO:0012041", "name": "MAP" }, { "id": "MONDO:0012041", "name": "MUTYH-associated polyposis" }, { "id": "MONDO:0012041", "name": "MUTYH-related AFAP" }, { "id": "MONDO:0012041", "name": "MUTYH-related adenomatous polyposis" }, { "id": "MONDO:0012041", "name": "adenomas, multiple colorectal, autosomal recessive" }, { "id": "MONDO:0012041", "name": "colorectal adenomatous polyposis, autosomal recessive" }, { "id": "MONDO:0012041", "name": "familial adenomatous polyposis 2" }, { "id": "MONDO:0012041", "name": "familial adenomatous polyposis, 2" }, { "id": "MONDO:0012041", "name": "familial adenomatous polyposis, type 2" }, { "id": "MONDO:0012041", "name": "MAP syndrome" }, { "id": "MONDO:0012041", "name": "MYH-associated polyposis" }, { "id": "MONDO:0012041", "name": "autosomal recessive familial adenomatous polyposis" }, { "id": "MONDO:0012041", "name": "autosomal recessive multiple colorectal adenomas" }, { "id": "MIM:608456", "name": "Familial adenomatous polyposis 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080410", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080411", "disease_id": "DOID:0080411", "recommended_name": "familial adenomatous polyposis 3", "synonyms": [ { "id": "MONDO:0014630", "name": "familial adenomatous polyposis 3" }, { "id": "MONDO:0014630", "name": "FAP3" }, { "id": "MONDO:0014630", "name": "NTHL1-related AFAP" }, { "id": "MONDO:0014630", "name": "NTHL1-related attenuated FAP" }, { "id": "MONDO:0014630", "name": "NTHL1-related attenuated familial adenomatous polyposis" }, { "id": "MONDO:0014630", "name": "familial adenomatous polyposis 3" }, { "id": "MONDO:0014630", "name": "familial adenomatous polyposis type 3" }, { "id": "MIM:616415", "name": "Familial adenomatous polyposis 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080411", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080412", "disease_id": "DOID:0080412", "recommended_name": "familial adenomatous polyposis 4", "synonyms": [ { "id": "MONDO:0044300", "name": "familial adenomatous polyposis 4" }, { "id": "MONDO:0044300", "name": "FAP4" }, { "id": "MONDO:0044300", "name": "MSH3-related AFAP" }, { "id": "MONDO:0044300", "name": "MSH3-related attenuated FAP" }, { "id": "MONDO:0044300", "name": "MSH3-related attenuated familial adenomatous polyposis" }, { "id": "MONDO:0044300", "name": "MSH3-related attenuated familial polyposis coli" }, { "id": "MONDO:0044300", "name": "familial adenomatous polyposis 4" }, { "id": "MONDO:0044300", "name": "familial adenomatous polyposis type 4" }, { "id": "MIM:617100", "name": "Familial adenomatous polyposis 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080412", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080413", "disease_id": "DOID:0080413", "recommended_name": "developmental and epileptic encephalopathy 18", "synonyms": [ { "id": "DOID:0080413", "name": "DEE18" }, { "id": "DOID:0080413", "name": "early infantile epileptic encephalopathy 18" }, { "id": "MONDO:0014201", "name": "developmental and epileptic encephalopathy, 18" }, { "id": "MONDO:0014201", "name": "DEE18" }, { "id": "MONDO:0014201", "name": "EIEE18" }, { "id": "MONDO:0014201", "name": "developmental and epileptic encephalopathy 18" }, { "id": "MONDO:0014201", "name": "early infantile epileptic encephalopathy without suppression burst" }, { "id": "MONDO:0014201", "name": "epileptic encephalopathy, early infantile, 18" }, { "id": "MONDO:0014201", "name": "epileptic encephalopathy, early infantile, type 18" }, { "id": "MIM:615476", "name": "Developmental and epileptic encephalopathy 18" } ], "record_url": "http://disease-ontology.org/term/DOID:0080413", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080414", "disease_id": "DOID:0080414", "recommended_name": "developmental and epileptic encephalopathy 15", "synonyms": [ { "id": "DOID:0080414", "name": "DEE15" }, { "id": "DOID:0080414", "name": "early infantile epileptic encephalopathy 15" }, { "id": "MONDO:0014003", "name": "developmental and epileptic encephalopathy, 15" }, { "id": "MONDO:0014003", "name": "DEE15" }, { "id": "MONDO:0014003", "name": "EIEE15" }, { "id": "MONDO:0014003", "name": "developmental and epileptic encephalopathy 15" }, { "id": "MONDO:0014003", "name": "epileptic encephalopathy, early infantile, 15" }, { "id": "MONDO:0014003", "name": "epileptic encephalopathy, early infantile, type 15" }, { "id": "MIM:615006", "name": "Developmental and epileptic encephalopathy 15" } ], "record_url": "http://disease-ontology.org/term/DOID:0080414", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080415", "disease_id": "DOID:0080415", "recommended_name": "developmental and epileptic encephalopathy 23", "synonyms": [ { "id": "DOID:0080415", "name": "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome" }, { "id": "DOID:0080415", "name": "Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome" }, { "id": "DOID:0080415", "name": "DEE23" }, { "id": "DOID:0080415", "name": "early infantile epileptic encephalopathy 23" }, { "id": "MONDO:0014371", "name": "developmental and epileptic encephalopathy, 23" }, { "id": "MONDO:0014371", "name": "EIEE23" }, { "id": "MONDO:0014371", "name": "developmental and epileptic encephalopathy 23" }, { "id": "MONDO:0014371", "name": "developmental and epileptic encephalopathy, 23" }, { "id": "MONDO:0014371", "name": "early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome" }, { "id": "MONDO:0014371", "name": "epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome" }, { "id": "MONDO:0014371", "name": "epileptic encephalopathy, early infantile, 23" }, { "id": "MONDO:0014371", "name": "epileptic encephalopathy, early infantile, type 23" }, { "id": "MIM:615859", "name": "Developmental and epileptic encephalopathy 23" } ], "record_url": "http://disease-ontology.org/term/DOID:0080415", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080416", "disease_id": "DOID:0080416", "recommended_name": "developmental and epileptic encephalopathy 32", "synonyms": [ { "id": "DOID:0080416", "name": "DEE32" }, { "id": "DOID:0080416", "name": "early infantile epileptic encephalopathy 32" }, { "id": "MONDO:0014607", "name": "developmental and epileptic encephalopathy, 32" }, { "id": "MONDO:0014607", "name": "DEE32" }, { "id": "MONDO:0014607", "name": "EIEE32" }, { "id": "MONDO:0014607", "name": "KCNA2 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014607", "name": "developmental and epileptic encephalopathy 32" }, { "id": "MONDO:0014607", "name": "early infantile epileptic encephalopathy caused by mutation in KCNA2" }, { "id": "MONDO:0014607", "name": "epileptic encephalopathy, early infantile, 32" }, { "id": "MONDO:0014607", "name": "epileptic encephalopathy, early infantile, type 32" }, { "id": "MIM:616366", "name": "Developmental and epileptic encephalopathy 32" } ], "record_url": "http://disease-ontology.org/term/DOID:0080416", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080417", "disease_id": "DOID:0080417", "recommended_name": "developmental and epileptic encephalopathy 38", "synonyms": [ { "id": "DOID:0080417", "name": "DEE38" }, { "id": "DOID:0080417", "name": "early infantile epileptic encephalopathy 38" }, { "id": "MONDO:0014868", "name": "developmental and epileptic encephalopathy, 38" }, { "id": "MONDO:0014868", "name": "ARV1 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014868", "name": "DEE38" }, { "id": "MONDO:0014868", "name": "EIEE38" }, { "id": "MONDO:0014868", "name": "developmental and epileptic encephalopathy 38" }, { "id": "MONDO:0014868", "name": "early infantile epileptic encephalopathy caused by mutation in ARV1" }, { "id": "MONDO:0014868", "name": "epileptic encephalopathy, early infantile, 38" }, { "id": "MONDO:0014868", "name": "epileptic encephalopathy, early infantile, 38; EIEE38" }, { "id": "MONDO:0014868", "name": "epileptic encephalopathy, early infantile, type 38" }, { "id": "MIM:617020", "name": "Developmental and epileptic encephalopathy 38" } ], "record_url": "http://disease-ontology.org/term/DOID:0080417", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101010" }, { "record_id": "doid.0080418", "disease_id": "DOID:0080418", "recommended_name": "developmental and epileptic encephalopathy 54", "synonyms": [ { "id": "DOID:0080418", "name": "DEE54" }, { "id": "DOID:0080418", "name": "early infantile epileptic encephalopathy 54" }, { "id": "MONDO:0033363", "name": "developmental and epileptic encephalopathy, 54" }, { "id": "MONDO:0033363", "name": "DEE54" }, { "id": "MONDO:0033363", "name": "EIEE54" }, { "id": "MONDO:0033363", "name": "HNRNPU-Related Disorder" }, { "id": "MONDO:0033363", "name": "developmental and epileptic encephalopathy 54" }, { "id": "MONDO:0033363", "name": "epileptic encephalopathy, early infantile, 54" }, { "id": "MIM:617391", "name": "Developmental and epileptic encephalopathy 54" } ], "record_url": "http://disease-ontology.org/term/DOID:0080418", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080419", "disease_id": "DOID:0080419", "recommended_name": "developmental and epileptic encephalopathy 50", "synonyms": [ { "id": "DOID:0080419", "name": "CDG syndrome type Iz" }, { "id": "DOID:0080419", "name": "CDG-Iz" }, { "id": "DOID:0080419", "name": "Congenital disorder of glycosylation type 1z" }, { "id": "DOID:0080419", "name": "Carbohydrate deficient glycoprotein syndrome type Iz" }, { "id": "DOID:0080419", "name": "DEE50" }, { "id": "DOID:0080419", "name": "early infantile epileptic encephalopathy 50" }, { "id": "MONDO:0014647", "name": "developmental and epileptic encephalopathy, 50" }, { "id": "MONDO:0014647", "name": "CAD-CDG" }, { "id": "MONDO:0014647", "name": "CDG syndrome type Iz" }, { "id": "MONDO:0014647", "name": "CDG-Iz" }, { "id": "MONDO:0014647", "name": "CDG1Z" }, { "id": "MONDO:0014647", "name": "DEE50" }, { "id": "MONDO:0014647", "name": "EIEE50" }, { "id": "MONDO:0014647", "name": "carbohydrate deficient glycoprotein syndrome type Iz" }, { "id": "MONDO:0014647", "name": "congenital disorder of glycosylation type 1z" }, { "id": "MONDO:0014647", "name": "developmental and epileptic encephalopathy 50" }, { "id": "MONDO:0014647", "name": "epileptic encephalopathy, early infantile, 50" }, { "id": "MONDO:0014647", "name": "congenital disorder of glycosylation, type Iz" }, { "id": "MIM:616457", "name": "Developmental and epileptic encephalopathy 50" } ], "record_url": "http://disease-ontology.org/term/DOID:0080419", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080420", "disease_id": "DOID:0080420", "recommended_name": "developmental and epileptic encephalopathy 62", "synonyms": [ { "id": "DOID:0080420", "name": "DEE62" }, { "id": "DOID:0080420", "name": "early infantile epileptic encephalopathy 62" }, { "id": "MONDO:0033371", "name": "developmental and epileptic encephalopathy, 62" }, { "id": "MONDO:0033371", "name": "DEE62" }, { "id": "MONDO:0033371", "name": "EIEE62" }, { "id": "MONDO:0033371", "name": "developmental and epileptic encephalopathy 62" }, { "id": "MONDO:0033371", "name": "epileptic encephalopathy, early infantile, 62" }, { "id": "MIM:617938", "name": "Developmental and epileptic encephalopathy 62" } ], "record_url": "http://disease-ontology.org/term/DOID:0080420", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080421", "disease_id": "DOID:0080421", "recommended_name": "developmental and epileptic encephalopathy 11", "synonyms": [ { "id": "DOID:0080421", "name": "DEE11" }, { "id": "DOID:0080421", "name": "early infantile epileptic encephalopathy 11" }, { "id": "MONDO:0013388", "name": "developmental and epileptic encephalopathy, 11" }, { "id": "MONDO:0013388", "name": "DEE11" }, { "id": "MONDO:0013388", "name": "EIEE11" }, { "id": "MONDO:0013388", "name": "SCN2A early infantile epileptic encephalopathy" }, { "id": "MONDO:0013388", "name": "developmental and epileptic encephalopathy 11" }, { "id": "MONDO:0013388", "name": "early infantile epileptic encephalopathy caused by mutation in SCN2A" }, { "id": "MONDO:0013388", "name": "epileptic encephalopathy, early infantile, 11" }, { "id": "MONDO:0013388", "name": "epileptic encephalopathy, early infantile, type 11" }, { "id": "MIM:613721", "name": "Developmental and epileptic encephalopathy 11" } ], "record_url": "http://disease-ontology.org/term/DOID:0080421", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080422", "disease_id": "DOID:0080422", "recommended_name": "Dravet syndrome", "synonyms": [ { "id": "DOID:0080422", "name": "early infantile epileptic encephalopathy 6" }, { "id": "DOID:0080422", "name": "DEE6" }, { "id": "DOID:0080422", "name": "DEE6A" }, { "id": "DOID:0080422", "name": "developmental and epileptic encephalopathy 6" }, { "id": "DOID:0080422", "name": "developmental and epileptic encephalopathy 6A" }, { "id": "DOID:0080422", "name": "severe myoclonic epilepsy of infancy" }, { "id": "MONDO:0100079", "name": "developmental and epileptic encephalopathy, 6A" }, { "id": "MONDO:0100079", "name": "DEE6A" }, { "id": "MONDO:0100079", "name": "EIEE6" }, { "id": "MONDO:0100079", "name": "developmental and epileptic encephalopathy, 6A" }, { "id": "MONDO:0100079", "name": "epileptic encephalopathy, early infantile, 6" }, { "id": "MIM:607208", "name": "Dravet syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080422", "snv_count": 0, "protein_count": 41, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 4.2, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080424", "disease_id": "DOID:0080424", "recommended_name": "developmental and epileptic encephalopathy 44", "synonyms": [ { "id": "DOID:0080424", "name": "DEE44" }, { "id": "DOID:0080424", "name": "early infantile epileptic encephalopathy 44" }, { "id": "MONDO:0014933", "name": "developmental and epileptic encephalopathy, 44" }, { "id": "MONDO:0014933", "name": "DEE44" }, { "id": "MONDO:0014933", "name": "EIEE44" }, { "id": "MONDO:0014933", "name": "UBA5 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014933", "name": "developmental and epileptic encephalopathy 44" }, { "id": "MONDO:0014933", "name": "early infantile epileptic encephalopathy caused by mutation in UBA5" }, { "id": "MONDO:0014933", "name": "epileptic encephalopathy, early infantile, 44" }, { "id": "MONDO:0014933", "name": "epileptic encephalopathy, early infantile, 44; EIEE44" }, { "id": "MONDO:0014933", "name": "epileptic encephalopathy, early infantile, type 44" }, { "id": "MIM:617132", "name": "Developmental and epileptic encephalopathy 44" } ], "record_url": "http://disease-ontology.org/term/DOID:0080424", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080425", "disease_id": "DOID:0080425", "recommended_name": "developmental and epileptic encephalopathy 47", "synonyms": [ { "id": "DOID:0080425", "name": "DEE47" }, { "id": "DOID:0080425", "name": "early infantile epileptic encephalopathy 47" }, { "id": "MONDO:0014949", "name": "developmental and epileptic encephalopathy, 47" }, { "id": "MONDO:0014949", "name": "DEE47" }, { "id": "MONDO:0014949", "name": "EIEE47" }, { "id": "MONDO:0014949", "name": "FGF12 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014949", "name": "developmental and epileptic encephalopathy 47" }, { "id": "MONDO:0014949", "name": "early infantile epileptic encephalopathy caused by mutation in FGF12" }, { "id": "MONDO:0014949", "name": "epileptic encephalopathy, early infantile, 47" }, { "id": "MONDO:0014949", "name": "epileptic encephalopathy, early infantile, 47; EIEE47" }, { "id": "MONDO:0014949", "name": "epileptic encephalopathy, early infantile, type 47" }, { "id": "MIM:617166", "name": "Developmental and epileptic encephalopathy 47" } ], "record_url": "http://disease-ontology.org/term/DOID:0080425", "snv_count": 0, "protein_count": 46, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 4.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080426", "disease_id": "DOID:0080426", "recommended_name": "developmental and epileptic encephalopathy 63", "synonyms": [ { "id": "DOID:0080426", "name": "DEE63" }, { "id": "DOID:0080426", "name": "early infantile epileptic encephalopathy 63" }, { "id": "MONDO:0033372", "name": "developmental and epileptic encephalopathy, 63" }, { "id": "MONDO:0033372", "name": "DEE63" }, { "id": "MONDO:0033372", "name": "EIEE63" }, { "id": "MONDO:0033372", "name": "developmental and epileptic encephalopathy 63" }, { "id": "MONDO:0033372", "name": "epileptic encephalopathy, early infantile, 63" }, { "id": "MIM:617976", "name": "Developmental and epileptic encephalopathy 63" } ], "record_url": "http://disease-ontology.org/term/DOID:0080426", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080427", "disease_id": "DOID:0080427", "recommended_name": "developmental and epileptic encephalopathy 40", "synonyms": [ { "id": "DOID:0080427", "name": "DEE40" }, { "id": "DOID:0080427", "name": "early infantile epileptic encephalopathy 40" }, { "id": "MONDO:0014895", "name": "developmental and epileptic encephalopathy, 40" }, { "id": "MONDO:0014895", "name": "DEE40" }, { "id": "MONDO:0014895", "name": "EIEE40" }, { "id": "MONDO:0014895", "name": "GUF1 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014895", "name": "developmental and epileptic encephalopathy 40" }, { "id": "MONDO:0014895", "name": "early infantile epileptic encephalopathy caused by mutation in GUF1" }, { "id": "MONDO:0014895", "name": "epileptic encephalopathy, early infantile, 40" }, { "id": "MONDO:0014895", "name": "epileptic encephalopathy, early infantile, 40; EIEE40" }, { "id": "MONDO:0014895", "name": "epileptic encephalopathy, early infantile, type 40" }, { "id": "MIM:617065", "name": "Developmental and epileptic encephalopathy 40" } ], "record_url": "http://disease-ontology.org/term/DOID:0080427", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080428", "disease_id": "DOID:0080428", "recommended_name": "developmental and epileptic encephalopathy 45", "synonyms": [ { "id": "DOID:0080428", "name": "DEE45" }, { "id": "DOID:0080428", "name": "early infantile epileptic encephalopathy 45" }, { "id": "MONDO:0014942", "name": "developmental and epileptic encephalopathy, 45" }, { "id": "MONDO:0014942", "name": "DEE45" }, { "id": "MONDO:0014942", "name": "EIEE45" }, { "id": "MONDO:0014942", "name": "GABRB1 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014942", "name": "developmental and epileptic encephalopathy 45" }, { "id": "MONDO:0014942", "name": "early infantile epileptic encephalopathy caused by mutation in GABRB1" }, { "id": "MONDO:0014942", "name": "epileptic encephalopathy, early infantile, 45" }, { "id": "MONDO:0014942", "name": "epileptic encephalopathy, early infantile, 45; EIEE45" }, { "id": "MONDO:0014942", "name": "epileptic encephalopathy, early infantile, type 45" }, { "id": "MIM:617153", "name": "Developmental and epileptic encephalopathy 45" } ], "record_url": "http://disease-ontology.org/term/DOID:0080428", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080429", "disease_id": "DOID:0080429", "recommended_name": "developmental and epileptic encephalopathy 24", "synonyms": [ { "id": "DOID:0080429", "name": "DEE24" }, { "id": "DOID:0080429", "name": "early infantile epileptic encephalopathy 24" }, { "id": "MONDO:0014377", "name": "developmental and epileptic encephalopathy, 24" }, { "id": "MONDO:0014377", "name": "DEE24" }, { "id": "MONDO:0014377", "name": "EIEE24" }, { "id": "MONDO:0014377", "name": "HCN1 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014377", "name": "developmental and epileptic encephalopathy 24" }, { "id": "MONDO:0014377", "name": "early infantile epileptic encephalopathy caused by mutation in HCN1" }, { "id": "MONDO:0014377", "name": "epileptic encephalopathy, early infantile, 24" }, { "id": "MONDO:0014377", "name": "epileptic encephalopathy, early infantile, type 24" }, { "id": "MIM:615871", "name": "Developmental and epileptic encephalopathy 24" } ], "record_url": "http://disease-ontology.org/term/DOID:0080429", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080430", "disease_id": "DOID:0080430", "recommended_name": "developmental and epileptic encephalopathy 65", "synonyms": [ { "id": "DOID:0080430", "name": "DEE65" }, { "id": "DOID:0080430", "name": "early infantile epileptic encephalopathy 65" }, { "id": "MONDO:0033374", "name": "developmental and epileptic encephalopathy, 65" }, { "id": "MONDO:0033374", "name": "DEE65" }, { "id": "MONDO:0033374", "name": "EIEE65" }, { "id": "MONDO:0033374", "name": "developmental and epileptic encephalopathy 65" }, { "id": "MONDO:0033374", "name": "epileptic encephalopathy, early infantile, 65" }, { "id": "MIM:618008", "name": "Developmental and epileptic encephalopathy 65" } ], "record_url": "http://disease-ontology.org/term/DOID:0080430", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080431", "disease_id": "DOID:0080431", "recommended_name": "developmental and epileptic encephalopathy 19", "synonyms": [ { "id": "DOID:0080431", "name": "DEE19" }, { "id": "DOID:0080431", "name": "early infantile epileptic encephalopathy 19" }, { "id": "MONDO:0014328", "name": "developmental and epileptic encephalopathy, 19" }, { "id": "MONDO:0014328", "name": "DEE19" }, { "id": "MONDO:0014328", "name": "EIEE19" }, { "id": "MONDO:0014328", "name": "Early Infantile epileptic encephalopathy 19" }, { "id": "MONDO:0014328", "name": "GABRA1 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014328", "name": "developmental and epileptic encephalopathy 19" }, { "id": "MONDO:0014328", "name": "early infantile epileptic encephalopathy caused by mutation in GABRA1" }, { "id": "MONDO:0014328", "name": "epileptic encephalopathy, early infantile, 19" }, { "id": "MONDO:0014328", "name": "epileptic encephalopathy, early infantile, type 19" }, { "id": "MIM:615744", "name": "Developmental and epileptic encephalopathy 19" } ], "record_url": "http://disease-ontology.org/term/DOID:0080431", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080432", "disease_id": "DOID:0080432", "recommended_name": "developmental and epileptic encephalopathy 60", "synonyms": [ { "id": "DOID:0080432", "name": "DEE60" }, { "id": "DOID:0080432", "name": "early infantile epileptic encephalopathy 60" }, { "id": "MONDO:0033369", "name": "developmental and epileptic encephalopathy, 60" }, { "id": "MONDO:0033369", "name": "DEE60" }, { "id": "MONDO:0033369", "name": "EIEE60" }, { "id": "MONDO:0033369", "name": "developmental and epileptic encephalopathy 60" }, { "id": "MONDO:0033369", "name": "epileptic encephalopathy, early infantile, 60" }, { "id": "MIM:617929", "name": "Developmental and epileptic encephalopathy 60" } ], "record_url": "http://disease-ontology.org/term/DOID:0080432", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080433", "disease_id": "DOID:0080433", "recommended_name": "developmental and epileptic encephalopathy 51", "synonyms": [ { "id": "DOID:0080433", "name": "DEE51" }, { "id": "DOID:0080433", "name": "early infantile epileptic encephalopathy 51" }, { "id": "MONDO:0015025", "name": "developmental and epileptic encephalopathy, 51" }, { "id": "MONDO:0015025", "name": "DEE51" }, { "id": "MONDO:0015025", "name": "EIEE51" }, { "id": "MONDO:0015025", "name": "MDH2 early infantile epileptic encephalopathy" }, { "id": "MONDO:0015025", "name": "developmental and epileptic encephalopathy 51" }, { "id": "MONDO:0015025", "name": "early infantile epileptic encephalopathy caused by mutation in MDH2" }, { "id": "MONDO:0015025", "name": "epileptic encephalopathy, early infantile, 51" }, { "id": "MONDO:0015025", "name": "epileptic encephalopathy, early infantile, 51; EIEE51" }, { "id": "MONDO:0015025", "name": "epileptic encephalopathy, early infantile, type 51" }, { "id": "MIM:617339", "name": "Developmental and epileptic encephalopathy 51" } ], "record_url": "http://disease-ontology.org/term/DOID:0080433", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080434", "disease_id": "DOID:0080434", "recommended_name": "developmental and epileptic encephalopathy 61", "synonyms": [ { "id": "DOID:0080434", "name": "DEE61" }, { "id": "DOID:0080434", "name": "early infantile epileptic encephalopathy 61" }, { "id": "MONDO:0033370", "name": "developmental and epileptic encephalopathy, 61" }, { "id": "MONDO:0033370", "name": "DEE61" }, { "id": "MONDO:0033370", "name": "EIEE61" }, { "id": "MONDO:0033370", "name": "developmental and epileptic encephalopathy 61" }, { "id": "MONDO:0033370", "name": "epileptic encephalopathy, early infantile, 61" }, { "id": "MIM:617933", "name": "Developmental and epileptic encephalopathy 61" } ], "record_url": "http://disease-ontology.org/term/DOID:0080434", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080435", "disease_id": "DOID:0080435", "recommended_name": "developmental and epileptic encephalopathy 37", "synonyms": [ { "id": "DOID:0080435", "name": "DEE37" }, { "id": "DOID:0080435", "name": "early infantile epileptic encephalopathy 37" }, { "id": "MONDO:0014859", "name": "developmental and epileptic encephalopathy, 37" }, { "id": "MONDO:0014859", "name": "DEE37" }, { "id": "MONDO:0014859", "name": "EIEE37" }, { "id": "MONDO:0014859", "name": "FRRS1L early infantile epileptic encephalopathy" }, { "id": "MONDO:0014859", "name": "developmental and epileptic encephalopathy 37" }, { "id": "MONDO:0014859", "name": "early infantile epileptic encephalopathy caused by mutation in FRRS1L" }, { "id": "MONDO:0014859", "name": "epileptic encephalopathy, early infantile, 37" }, { "id": "MONDO:0014859", "name": "epileptic encephalopathy, early infantile, 37; EIEE37" }, { "id": "MONDO:0014859", "name": "epileptic encephalopathy, early infantile, type 37" }, { "id": "MIM:616981", "name": "Developmental and epileptic encephalopathy 37" } ], "record_url": "http://disease-ontology.org/term/DOID:0080435", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080436", "disease_id": "DOID:0080436", "recommended_name": "developmental and epileptic encephalopathy 4", "synonyms": [ { "id": "DOID:0080436", "name": "DEE4" }, { "id": "DOID:0080436", "name": "early infantile epileptic encephalopathy 4" }, { "id": "MONDO:0012812", "name": "developmental and epileptic encephalopathy, 4" }, { "id": "MONDO:0012812", "name": "DEE4" }, { "id": "MONDO:0012812", "name": "EIEE4" }, { "id": "MONDO:0012812", "name": "STXBP1 early infantile epileptic encephalopathy" }, { "id": "MONDO:0012812", "name": "STXBP1-related encephalopathy" }, { "id": "MONDO:0012812", "name": "developmental and epileptic encephalopathy 4" }, { "id": "MONDO:0012812", "name": "developmental and epileptic encephalopathy, 4" }, { "id": "MONDO:0012812", "name": "early infantile epileptic encephalopathy 4" }, { "id": "MONDO:0012812", "name": "early infantile epileptic encephalopathy caused by mutation in STXBP1" }, { "id": "MONDO:0012812", "name": "epileptic encephalopathy, early infantile, 4" }, { "id": "MONDO:0012812", "name": "epileptic encephalopathy, early infantile, type 4" }, { "id": "MONDO:0012812", "name": "STXBP1-related early-onset encephalopathy" }, { "id": "MIM:612164", "name": "Developmental and epileptic encephalopathy 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080436", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080437", "disease_id": "DOID:0080437", "recommended_name": "developmental and epileptic encephalopathy 31A", "synonyms": [ { "id": "DOID:0080437", "name": "DEE31" }, { "id": "DOID:0080437", "name": "DEE31A" }, { "id": "DOID:0080437", "name": "developmental and epileptic encephalopathy 31" }, { "id": "DOID:0080437", "name": "early infantile epileptic encephalopathy 31" }, { "id": "MONDO:0014598", "name": "developmental and epileptic encephalopathy, 31A" }, { "id": "MONDO:0014598", "name": "DEE31" }, { "id": "MONDO:0014598", "name": "DNM1-encephalopathy and neurodevelopmental disorder" }, { "id": "MONDO:0014598", "name": "DNM1-related epilepsy and neurodevelopmental disorder" }, { "id": "MONDO:0014598", "name": "EIEE31" }, { "id": "MONDO:0014598", "name": "developmental and epileptic encephalopathy 31" }, { "id": "MONDO:0014598", "name": "early infantile epileptic encephalopathy caused by mutation in DNM1" }, { "id": "MONDO:0014598", "name": "epileptic encephalopathy, early infantile, 31" }, { "id": "MONDO:0014598", "name": "epileptic encephalopathy, early infantile, type 31" }, { "id": "MONDO:0014598", "name": "DEE31A" }, { "id": "MONDO:0014598", "name": "DNM1 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014598", "name": "developmental and epileptic encephalopathy 31A, autosomal dominant" }, { "id": "MIM:616346", "name": "Developmental and epileptic encephalopathy 31A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080437", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080438", "disease_id": "DOID:0080438", "recommended_name": "developmental and epileptic encephalopathy 5", "synonyms": [ { "id": "DOID:0080438", "name": "DEE5" }, { "id": "DOID:0080438", "name": "early infantile epileptic encephalopathy 5" }, { "id": "MONDO:0013277", "name": "developmental and epileptic encephalopathy, 5" }, { "id": "MONDO:0013277", "name": "DEE5" }, { "id": "MONDO:0013277", "name": "EIEE5" }, { "id": "MONDO:0013277", "name": "SPTAN1 early infantile epileptic encephalopathy" }, { "id": "MONDO:0013277", "name": "developmental and epileptic encephalopathy 5" }, { "id": "MONDO:0013277", "name": "early infantile epileptic encephalopathy caused by mutation in SPTAN1" }, { "id": "MONDO:0013277", "name": "epileptic encephalopathy, early infantile, 5" }, { "id": "MONDO:0013277", "name": "epileptic encephalopathy, early infantile, type 5" }, { "id": "MIM:613477", "name": "Developmental and epileptic encephalopathy 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0080438", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080439", "disease_id": "DOID:0080439", "recommended_name": "developmental and epileptic encephalopathy 14", "synonyms": [ { "id": "DOID:0080439", "name": "DEE14" }, { "id": "DOID:0080439", "name": "early infantile epileptic encephalopathy 14" }, { "id": "MONDO:0013989", "name": "developmental and epileptic encephalopathy, 14" }, { "id": "MONDO:0013989", "name": "KCNT1-related epilepsy" }, { "id": "MONDO:0013989", "name": "DEE14" }, { "id": "MONDO:0013989", "name": "EIEE14" }, { "id": "MONDO:0013989", "name": "KCNT1 early infantile epileptic encephalopathy" }, { "id": "MONDO:0013989", "name": "developmental and epileptic encephalopathy 14" }, { "id": "MONDO:0013989", "name": "early infantile epileptic encephalopathy caused by mutation in KCNT1" }, { "id": "MONDO:0013989", "name": "epileptic encephalopathy, early infantile, 14" }, { "id": "MONDO:0013989", "name": "epileptic encephalopathy, early infantile, type 14" }, { "id": "MIM:614959", "name": "Developmental and epileptic encephalopathy 14" } ], "record_url": "http://disease-ontology.org/term/DOID:0080439", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080440", "disease_id": "DOID:0080440", "recommended_name": "developmental and epileptic encephalopathy 3", "synonyms": [ { "id": "DOID:0080440", "name": "early infantile epileptic encephalopathy 3" }, { "id": "MONDO:0012245", "name": "developmental and epileptic encephalopathy, 3" }, { "id": "MONDO:0012245", "name": "DEE3" }, { "id": "MONDO:0012245", "name": "EIEE3" }, { "id": "MONDO:0012245", "name": "SLC25A22 early infantile epileptic encephalopathy" }, { "id": "MONDO:0012245", "name": "developmental and epileptic encephalopathy 3" }, { "id": "MONDO:0012245", "name": "early infantile epileptic encephalopathy caused by mutation in SLC25A22" }, { "id": "MONDO:0012245", "name": "epileptic encephalopathy, early infantile, 3" }, { "id": "MONDO:0012245", "name": "epileptic encephalopathy, early infantile, type 3" }, { "id": "MIM:609304", "name": "Developmental and epileptic encephalopathy 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080440", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080441", "disease_id": "DOID:0080441", "recommended_name": "developmental and epileptic encephalopathy 49", "synonyms": [ { "id": "DOID:0080441", "name": "DEE49" }, { "id": "DOID:0080441", "name": "early infantile epileptic encephalopathy 49" }, { "id": "MONDO:0015002", "name": "developmental and epileptic encephalopathy, 49" }, { "id": "MONDO:0015002", "name": "DEE49" }, { "id": "MONDO:0015002", "name": "DENND5A early infantile epileptic encephalopathy" }, { "id": "MONDO:0015002", "name": "EIEE49" }, { "id": "MONDO:0015002", "name": "developmental and epileptic encephalopathy 49" }, { "id": "MONDO:0015002", "name": "early infantile epileptic encephalopathy caused by mutation in DENND5A" }, { "id": "MONDO:0015002", "name": "epileptic encephalopathy, early infantile, 49" }, { "id": "MONDO:0015002", "name": "epileptic encephalopathy, early infantile, 49; EIEE49" }, { "id": "MONDO:0015002", "name": "epileptic encephalopathy, early infantile, type 49" }, { "id": "MIM:617281", "name": "Developmental and epileptic encephalopathy 49" } ], "record_url": "http://disease-ontology.org/term/DOID:0080441", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080442", "disease_id": "DOID:0080442", "recommended_name": "developmental and epileptic encephalopathy 41", "synonyms": [ { "id": "DOID:0080442", "name": "DEE41" }, { "id": "DOID:0080442", "name": "early infantile epileptic encephalopathy 41" }, { "id": "MONDO:0014916", "name": "developmental and epileptic encephalopathy, 41" }, { "id": "MONDO:0014916", "name": "DEE41" }, { "id": "MONDO:0014916", "name": "EIEE41" }, { "id": "MONDO:0014916", "name": "SLC1A2 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014916", "name": "developmental and epileptic encephalopathy 41" }, { "id": "MONDO:0014916", "name": "developmental and epileptic encephalopathy, 41" }, { "id": "MONDO:0014916", "name": "early infantile epileptic encephalopathy caused by mutation in SLC1A2" }, { "id": "MONDO:0014916", "name": "epileptic encephalopathy, early infantile, 41" }, { "id": "MONDO:0014916", "name": "epileptic encephalopathy, early infantile, 41; EIEE41" }, { "id": "MONDO:0014916", "name": "epileptic encephalopathy, early infantile, type 41" }, { "id": "MIM:617105", "name": "Developmental and epileptic encephalopathy 41" } ], "record_url": "http://disease-ontology.org/term/DOID:0080442", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080443", "disease_id": "DOID:0080443", "recommended_name": "developmental and epileptic encephalopathy 21", "synonyms": [ { "id": "DOID:0080443", "name": "DEE21" }, { "id": "DOID:0080443", "name": "early infantile epileptic encephalopathy 21" }, { "id": "MONDO:0014360", "name": "developmental and epileptic encephalopathy, 21" }, { "id": "MONDO:0014360", "name": "DEE21" }, { "id": "MONDO:0014360", "name": "EIEE21" }, { "id": "MONDO:0014360", "name": "NECAP1 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014360", "name": "developmental and epileptic encephalopathy 21" }, { "id": "MONDO:0014360", "name": "early infantile epileptic encephalopathy caused by mutation in NECAP1" }, { "id": "MONDO:0014360", "name": "epileptic encephalopathy, early infantile, 21" }, { "id": "MONDO:0014360", "name": "epileptic encephalopathy, early infantile, type 21" }, { "id": "MIM:615833", "name": "Developmental and epileptic encephalopathy 21" } ], "record_url": "http://disease-ontology.org/term/DOID:0080443", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080444", "disease_id": "DOID:0080444", "recommended_name": "developmental and epileptic encephalopathy 27", "synonyms": [ { "id": "DOID:0080444", "name": "DEE27" }, { "id": "DOID:0080444", "name": "early infantile epileptic encephalopathy 27" }, { "id": "MONDO:0014505", "name": "developmental and epileptic encephalopathy, 27" }, { "id": "MONDO:0014505", "name": "DEE27" }, { "id": "MONDO:0014505", "name": "EIEE27" }, { "id": "MONDO:0014505", "name": "GRIN2B early infantile epileptic encephalopathy" }, { "id": "MONDO:0014505", "name": "developmental and epileptic encephalopathy 27" }, { "id": "MONDO:0014505", "name": "early infantile epileptic encephalopathy caused by mutation in GRIN2B" }, { "id": "MONDO:0014505", "name": "epileptic encephalopathy, early infantile, 27" }, { "id": "MONDO:0014505", "name": "epileptic encephalopathy, early infantile, type 27" }, { "id": "MIM:616139", "name": "Developmental and epileptic encephalopathy 27" } ], "record_url": "http://disease-ontology.org/term/DOID:0080444", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080445", "disease_id": "DOID:0080445", "recommended_name": "developmental and epileptic encephalopathy 13", "synonyms": [ { "id": "DOID:0080445", "name": "DEE13" }, { "id": "DOID:0080445", "name": "early infantile epileptic encephalopathy 13" }, { "id": "MONDO:0013801", "name": "developmental and epileptic encephalopathy, 13" }, { "id": "MONDO:0013801", "name": "DEE13" }, { "id": "MONDO:0013801", "name": "EIEE13" }, { "id": "MONDO:0013801", "name": "SCN8A early infantile epileptic encephalopathy" }, { "id": "MONDO:0013801", "name": "developmental and epileptic encephalopathy 13" }, { "id": "MONDO:0013801", "name": "early infantile epileptic encephalopathy caused by mutation in SCN8A" }, { "id": "MONDO:0013801", "name": "early infantile epileptic encephalopathy-13" }, { "id": "MONDO:0013801", "name": "epileptic encephalopathy, early infantile, 13" }, { "id": "MONDO:0013801", "name": "epileptic encephalopathy, early infantile, type 13" }, { "id": "MONDO:0013801", "name": "SCN8A encephalopathy" }, { "id": "MONDO:0013801", "name": "SCN8A epilepsy" }, { "id": "MIM:614558", "name": "Developmental and epileptic encephalopathy 13" } ], "record_url": "http://disease-ontology.org/term/DOID:0080445", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080446", "disease_id": "DOID:0080446", "recommended_name": "developmental and epileptic encephalopathy 66", "synonyms": [ { "id": "DOID:0080446", "name": "DEE66" }, { "id": "DOID:0080446", "name": "early infantile epileptic encephalopathy 66" }, { "id": "MONDO:0054845", "name": "developmental and epileptic encephalopathy, 66" }, { "id": "MONDO:0054845", "name": "DEE66" }, { "id": "MONDO:0054845", "name": "EIEE66" }, { "id": "MONDO:0054845", "name": "developmental and epileptic encephalopathy 66" }, { "id": "MONDO:0054845", "name": "epileptic encephalopathy, early infantile, 66" }, { "id": "MIM:618067", "name": "Developmental and epileptic encephalopathy 66" } ], "record_url": "http://disease-ontology.org/term/DOID:0080446", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080447", "disease_id": "DOID:0080447", "recommended_name": "developmental and epileptic encephalopathy 43", "synonyms": [ { "id": "DOID:0080447", "name": "DEE43" }, { "id": "DOID:0080447", "name": "early infantile epileptic encephalopathy 43" }, { "id": "MONDO:0014921", "name": "developmental and epileptic encephalopathy, 43" }, { "id": "MONDO:0014921", "name": "DEE43" }, { "id": "MONDO:0014921", "name": "EIEE43" }, { "id": "MONDO:0014921", "name": "GABRB3 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014921", "name": "developmental and epileptic encephalopathy 43" }, { "id": "MONDO:0014921", "name": "early infantile epileptic encephalopathy caused by mutation in GABRB3" }, { "id": "MONDO:0014921", "name": "epileptic encephalopathy, early infantile, 43" }, { "id": "MONDO:0014921", "name": "epileptic encephalopathy, early infantile, 43; EIEE43" }, { "id": "MONDO:0014921", "name": "epileptic encephalopathy, early infantile, type 43" }, { "id": "MIM:617113", "name": "Developmental and epileptic encephalopathy 43" } ], "record_url": "http://disease-ontology.org/term/DOID:0080447", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080448", "disease_id": "DOID:0080448", "recommended_name": "developmental and epileptic encephalopathy 48", "synonyms": [ { "id": "DOID:0080448", "name": "DEE48" }, { "id": "DOID:0080448", "name": "early infantile epileptic encephalopathy 48" }, { "id": "MONDO:0015000", "name": "developmental and epileptic encephalopathy, 48" }, { "id": "MONDO:0015000", "name": "AP3B2 early infantile epileptic encephalopathy" }, { "id": "MONDO:0015000", "name": "DEE48" }, { "id": "MONDO:0015000", "name": "EIEE48" }, { "id": "MONDO:0015000", "name": "developmental and epileptic encephalopathy 48" }, { "id": "MONDO:0015000", "name": "early infantile epileptic encephalopathy caused by mutation in AP3B2" }, { "id": "MONDO:0015000", "name": "epileptic encephalopathy, early infantile, 48" }, { "id": "MONDO:0015000", "name": "epileptic encephalopathy, early infantile, 48; EIEE48" }, { "id": "MONDO:0015000", "name": "epileptic encephalopathy, early infantile, type 48" }, { "id": "MIM:617276", "name": "Developmental and epileptic encephalopathy 48" } ], "record_url": "http://disease-ontology.org/term/DOID:0080448", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080449", "disease_id": "DOID:0080449", "recommended_name": "developmental and epileptic encephalopathy 16", "synonyms": [ { "id": "DOID:0080449", "name": "DEE16" }, { "id": "DOID:0080449", "name": "early infantile epileptic encephalopathy 16" }, { "id": "MONDO:0014133", "name": "developmental and epileptic encephalopathy, 16" }, { "id": "MONDO:0014133", "name": "DEE16" }, { "id": "MONDO:0014133", "name": "EIEE16" }, { "id": "MONDO:0014133", "name": "developmental and epileptic encephalopathy 16" }, { "id": "MONDO:0014133", "name": "epileptic encephalopathy, early infantile, 16" }, { "id": "MONDO:0014133", "name": "epileptic encephalopathy, early infantile, type 16" }, { "id": "MIM:615338", "name": "Developmental and epileptic encephalopathy 16" } ], "record_url": "http://disease-ontology.org/term/DOID:0080449", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080450", "disease_id": "DOID:0080450", "recommended_name": "developmental and epileptic encephalopathy 17", "synonyms": [ { "id": "DOID:0080450", "name": "DEE17" }, { "id": "DOID:0080450", "name": "early infantile epileptic encephalopathy 17" }, { "id": "MONDO:0014199", "name": "developmental and epileptic encephalopathy, 17" }, { "id": "MONDO:0014199", "name": "DEE17" }, { "id": "MONDO:0014199", "name": "EIEE17" }, { "id": "MONDO:0014199", "name": "GNAO1 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014199", "name": "developmental and epileptic encephalopathy 17" }, { "id": "MONDO:0014199", "name": "early infantile epileptic encephalopathy caused by mutation in GNAO1" }, { "id": "MONDO:0014199", "name": "early infantile epileptic encephalopathy-17" }, { "id": "MONDO:0014199", "name": "epileptic encephalopathy, early infantile, 17" }, { "id": "MONDO:0014199", "name": "epileptic encephalopathy, early infantile, type 17" }, { "id": "MONDO:0014199", "name": "GNAO1 encephalopathy" }, { "id": "MIM:615473", "name": "Developmental and epileptic encephalopathy 17" } ], "record_url": "http://disease-ontology.org/term/DOID:0080450", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080451", "disease_id": "DOID:0080451", "recommended_name": "developmental and epileptic encephalopathy 29", "synonyms": [ { "id": "DOID:0080451", "name": "DEE29" }, { "id": "DOID:0080451", "name": "early infantile epileptic encephalopathy 29" }, { "id": "MONDO:0014593", "name": "developmental and epileptic encephalopathy, 29" }, { "id": "MONDO:0014593", "name": "AARS early infantile epileptic encephalopathy" }, { "id": "MONDO:0014593", "name": "DEE29" }, { "id": "MONDO:0014593", "name": "EIEE29" }, { "id": "MONDO:0014593", "name": "developmental and epileptic encephalopathy 29" }, { "id": "MONDO:0014593", "name": "early infantile epileptic encephalopathy caused by mutation in AARS" }, { "id": "MONDO:0014593", "name": "epileptic encephalopathy, early infantile, 29" }, { "id": "MONDO:0014593", "name": "epileptic encephalopathy, early infantile, type 29" }, { "id": "MIM:616339", "name": "Developmental and epileptic encephalopathy 29" } ], "record_url": "http://disease-ontology.org/term/DOID:0080451", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080452", "disease_id": "DOID:0080452", "recommended_name": "developmental and epileptic encephalopathy 28", "synonyms": [ { "id": "DOID:0080452", "name": "DEE28" }, { "id": "DOID:0080452", "name": "early infantile epileptic encephalopathy 28" }, { "id": "MONDO:0014533", "name": "developmental and epileptic encephalopathy, 28" }, { "id": "MONDO:0014533", "name": "DEE28" }, { "id": "MONDO:0014533", "name": "EIEE28" }, { "id": "MONDO:0014533", "name": "WOREE syndrome" }, { "id": "MONDO:0014533", "name": "WWOX early infantile epileptic encephalopathy" }, { "id": "MONDO:0014533", "name": "WWOX-related epileptic encephalopathy" }, { "id": "MONDO:0014533", "name": "developmental and epileptic encephalopathy 28" }, { "id": "MONDO:0014533", "name": "early infantile epileptic encephalopathy caused by mutation in WWOX" }, { "id": "MONDO:0014533", "name": "epileptic encephalopathy, early infantile, 28" }, { "id": "MONDO:0014533", "name": "epileptic encephalopathy, early infantile, type 28" }, { "id": "MIM:616211", "name": "Developmental and epileptic encephalopathy 28" } ], "record_url": "http://disease-ontology.org/term/DOID:0080452", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080453", "disease_id": "DOID:0080453", "recommended_name": "developmental and epileptic encephalopathy 25", "synonyms": [ { "id": "DOID:0080453", "name": "developmental and epileptic encephalopathy 25, with amelogenesis imperfecta" }, { "id": "DOID:0080453", "name": "DEE25" }, { "id": "DOID:0080453", "name": "early infantile epileptic encephalopathy 25" }, { "id": "DOID:0080453", "name": "SLC13A5 citrate transporter disorder" }, { "id": "MONDO:0014392", "name": "developmental and epileptic encephalopathy, 25" }, { "id": "MONDO:0014392", "name": "DEE25" }, { "id": "MONDO:0014392", "name": "EIEE25" }, { "id": "MONDO:0014392", "name": "SLC13A5 Citrate Transporter Disorder" }, { "id": "MONDO:0014392", "name": "SLC13A5 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014392", "name": "developmental and epileptic encephalopathy, 25" }, { "id": "MONDO:0014392", "name": "early infantile epileptic encephalopathy 25" }, { "id": "MONDO:0014392", "name": "early infantile epileptic encephalopathy caused by mutation in SLC13A5" }, { "id": "MONDO:0014392", "name": "epileptic encephalopathy, early infantile, 25" }, { "id": "MONDO:0014392", "name": "epileptic encephalopathy, early infantile, type 25" }, { "id": "MONDO:0014392", "name": "SLC13A5 deficiency" }, { "id": "MIM:615905", "name": "Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta" } ], "record_url": "http://disease-ontology.org/term/DOID:0080453", "snv_count": 0, "protein_count": 11, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.2, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080454", "disease_id": "DOID:0080454", "recommended_name": "developmental and epileptic encephalopathy 42", "synonyms": [ { "id": "DOID:0080454", "name": "DEE42" }, { "id": "DOID:0080454", "name": "early infantile epileptic encephalopathy 42" }, { "id": "MONDO:0014917", "name": "developmental and epileptic encephalopathy, 42" }, { "id": "MONDO:0014917", "name": "CACNA1A early infantile epileptic encephalopathy" }, { "id": "MONDO:0014917", "name": "DEE42" }, { "id": "MONDO:0014917", "name": "EIEE42" }, { "id": "MONDO:0014917", "name": "developmental and epileptic encephalopathy 42" }, { "id": "MONDO:0014917", "name": "early infantile epileptic encephalopathy caused by mutation in CACNA1A" }, { "id": "MONDO:0014917", "name": "epileptic encephalopathy, early infantile, 42" }, { "id": "MONDO:0014917", "name": "epileptic encephalopathy, early infantile, 42; EIEE42" }, { "id": "MONDO:0014917", "name": "epileptic encephalopathy, early infantile, type 42" }, { "id": "MIM:617106", "name": "Developmental and epileptic encephalopathy 42" } ], "record_url": "http://disease-ontology.org/term/DOID:0080454", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080455", "disease_id": "DOID:0080455", "recommended_name": "developmental and epileptic encephalopathy 52", "synonyms": [ { "id": "DOID:0080455", "name": "DEE52" }, { "id": "DOID:0080455", "name": "early infantile epileptic encephalopathy 52" }, { "id": "MONDO:0033361", "name": "developmental and epileptic encephalopathy, 52" }, { "id": "MONDO:0033361", "name": "DEE52" }, { "id": "MONDO:0033361", "name": "EIEE52" }, { "id": "MONDO:0033361", "name": "developmental and epileptic encephalopathy 52" }, { "id": "MONDO:0033361", "name": "epileptic encephalopathy, early infantile, 52" }, { "id": "MIM:617350", "name": "Developmental and epileptic encephalopathy 52" } ], "record_url": "http://disease-ontology.org/term/DOID:0080455", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080456", "disease_id": "DOID:0080456", "recommended_name": "developmental and epileptic encephalopathy 46", "synonyms": [ { "id": "DOID:0080456", "name": "DEE46" }, { "id": "DOID:0080456", "name": "early infantile epileptic encephalopathy 46" }, { "id": "MONDO:0014947", "name": "developmental and epileptic encephalopathy, 46" }, { "id": "MONDO:0014947", "name": "DEE46" }, { "id": "MONDO:0014947", "name": "EIEE46" }, { "id": "MONDO:0014947", "name": "GRIN2D early infantile epileptic encephalopathy" }, { "id": "MONDO:0014947", "name": "GRIN2D-related DEE" }, { "id": "MONDO:0014947", "name": "GRIN2D-related complex neurodevelopmental disorder" }, { "id": "MONDO:0014947", "name": "GRIN2D-related developmental and epileptic encephalopathy" }, { "id": "MONDO:0014947", "name": "developmental and epileptic encephalopathy 46" }, { "id": "MONDO:0014947", "name": "early infantile epileptic encephalopathy caused by mutation in GRIN2D" }, { "id": "MONDO:0014947", "name": "epileptic encephalopathy, early infantile, 46" }, { "id": "MONDO:0014947", "name": "epileptic encephalopathy, early infantile, 46; EIEE46" }, { "id": "MONDO:0014947", "name": "epileptic encephalopathy, early infantile, type 46" }, { "id": "MIM:617162", "name": "Developmental and epileptic encephalopathy 46" } ], "record_url": "http://disease-ontology.org/term/DOID:0080456", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080457", "disease_id": "DOID:0080457", "recommended_name": "microcephaly, seizures, and developmental delay", "synonyms": [ { "id": "DOID:0080457", "name": "early infantile epileptic encephalopathy 10" }, { "id": "DOID:0080457", "name": "developmental and epileptic encephalopathy 10" }, { "id": "MONDO:0013254", "name": "microcephaly, seizures, and developmental delay" }, { "id": "MONDO:0013254", "name": "microcephaly, seizures, and developmental delay" }, { "id": "MONDO:0013254", "name": "EIEE10" }, { "id": "MONDO:0013254", "name": "MCSZ" }, { "id": "MONDO:0013254", "name": "early infantile epileptic encephalopathy-10" }, { "id": "MONDO:0013254", "name": "microcephaly - seizures - developmental delay" }, { "id": "MIM:613402", "name": "Microcephaly, seizures, and developmental delay" } ], "record_url": "http://disease-ontology.org/term/DOID:0080457", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080458", "disease_id": "DOID:0080458", "recommended_name": "developmental and epileptic encephalopathy 35", "synonyms": [ { "id": "DOID:0080458", "name": "ITPA-related encephalopathy" }, { "id": "DOID:0080458", "name": "DEE35" }, { "id": "DOID:0080458", "name": "early infantile epileptic encephalopathy 35" }, { "id": "MONDO:0014719", "name": "developmental and epileptic encephalopathy, 35" }, { "id": "MONDO:0014719", "name": "DEE35" }, { "id": "MONDO:0014719", "name": "EIEE35" }, { "id": "MONDO:0014719", "name": "developmental and epileptic encephalopathy 35" }, { "id": "MONDO:0014719", "name": "epileptic encephalopathy, early infantile, 35" }, { "id": "MONDO:0014719", "name": "epileptic encephalopathy, early infantile, type 35" }, { "id": "MIM:616647", "name": "Developmental and epileptic encephalopathy 35" } ], "record_url": "http://disease-ontology.org/term/DOID:0080458", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080459", "disease_id": "DOID:0080459", "recommended_name": "developmental and epileptic encephalopathy 12", "synonyms": [ { "id": "DOID:0080459", "name": "DEE12" }, { "id": "DOID:0080459", "name": "early infantile epileptic encephalopathy 12" }, { "id": "MONDO:0013389", "name": "developmental and epileptic encephalopathy, 12" }, { "id": "MONDO:0013389", "name": "DEE12" }, { "id": "MONDO:0013389", "name": "EIEE12" }, { "id": "MONDO:0013389", "name": "PLCB1 early infantile epileptic encephalopathy" }, { "id": "MONDO:0013389", "name": "developmental and epileptic encephalopathy 12" }, { "id": "MONDO:0013389", "name": "developmental and epileptic encephalopathy, 12" }, { "id": "MONDO:0013389", "name": "early infantile epileptic encephalopathy 12" }, { "id": "MONDO:0013389", "name": "early infantile epileptic encephalopathy caused by mutation in PLCB1" }, { "id": "MONDO:0013389", "name": "epileptic encephalopathy, early infantile, 12" }, { "id": "MONDO:0013389", "name": "epileptic encephalopathy, early infantile, type 12" }, { "id": "MIM:613722", "name": "Developmental and epileptic encephalopathy 12" } ], "record_url": "http://disease-ontology.org/term/DOID:0080459", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080460", "disease_id": "DOID:0080460", "recommended_name": "developmental and epileptic encephalopathy 34", "synonyms": [ { "id": "DOID:0080460", "name": "DEE34" }, { "id": "DOID:0080460", "name": "early infantile epileptic encephalopathy 34" }, { "id": "MONDO:0014718", "name": "developmental and epileptic encephalopathy, 34" }, { "id": "MONDO:0014718", "name": "DEE34" }, { "id": "MONDO:0014718", "name": "EIEE34" }, { "id": "MONDO:0014718", "name": "SLC12A5 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014718", "name": "developmental and epileptic encephalopathy 34" }, { "id": "MONDO:0014718", "name": "early infantile epileptic encephalopathy caused by mutation in SLC12A5" }, { "id": "MONDO:0014718", "name": "epileptic encephalopathy, early infantile, 34" }, { "id": "MONDO:0014718", "name": "epileptic encephalopathy, early infantile, 34; EIEE34" }, { "id": "MONDO:0014718", "name": "epileptic encephalopathy, early infantile, type 34" }, { "id": "MIM:616645", "name": "Developmental and epileptic encephalopathy 34" } ], "record_url": "http://disease-ontology.org/term/DOID:0080460", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080461", "disease_id": "DOID:0080461", "recommended_name": "developmental and epileptic encephalopathy 26", "synonyms": [ { "id": "DOID:0080461", "name": "DEE26" }, { "id": "DOID:0080461", "name": "early infantile epileptic encephalopathy 26" }, { "id": "MONDO:0014477", "name": "developmental and epileptic encephalopathy, 26" }, { "id": "MONDO:0014477", "name": "DEE26" }, { "id": "MONDO:0014477", "name": "EIEE26" }, { "id": "MONDO:0014477", "name": "KCNB1 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014477", "name": "developmental and epileptic encephalopathy 26" }, { "id": "MONDO:0014477", "name": "early infantile epileptic encephalopathy 26" }, { "id": "MONDO:0014477", "name": "early infantile epileptic encephalopathy caused by mutation in KCNB1" }, { "id": "MONDO:0014477", "name": "epileptic encephalopathy, early infantile, 26" }, { "id": "MONDO:0014477", "name": "epileptic encephalopathy, early infantile, type 26" }, { "id": "MIM:616056", "name": "Developmental and epileptic encephalopathy 26" } ], "record_url": "http://disease-ontology.org/term/DOID:0080461", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080462", "disease_id": "DOID:0080462", "recommended_name": "developmental and epileptic encephalopathy 7", "synonyms": [ { "id": "DOID:0080462", "name": "KCNQ2-related epileptic encephalopathy" }, { "id": "DOID:0080462", "name": "KCNQ2-related neonatal epileptic encephalopathy" }, { "id": "DOID:0080462", "name": "early infantile epileptic encephalopathy 7" }, { "id": "MONDO:0013387", "name": "developmental and epileptic encephalopathy, 7" }, { "id": "MONDO:0013387", "name": "DEE7" }, { "id": "MONDO:0013387", "name": "EIEE7" }, { "id": "MONDO:0013387", "name": "KCNQ2-NEE" }, { "id": "MONDO:0013387", "name": "developmental and epileptic encephalopathy 7" }, { "id": "MONDO:0013387", "name": "epileptic encephalopathy, early infantile, 7" }, { "id": "MONDO:0013387", "name": "epileptic encephalopathy, early infantile, type 7" }, { "id": "MONDO:0013387", "name": "KCNQ2-related disorders" }, { "id": "MIM:613720", "name": "Developmental and epileptic encephalopathy 7" } ], "record_url": "http://disease-ontology.org/term/DOID:0080462", "snv_count": 0, "protein_count": 15, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080463", "disease_id": "DOID:0080463", "recommended_name": "developmental and epileptic encephalopathy 33", "synonyms": [ { "id": "DOID:0080463", "name": "DEE33" }, { "id": "DOID:0080463", "name": "early infantile epileptic encephalopathy 33" }, { "id": "MONDO:0014625", "name": "developmental and epileptic encephalopathy, 33" }, { "id": "MONDO:0014625", "name": "DEE33" }, { "id": "MONDO:0014625", "name": "EEF1A2 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014625", "name": "EEF1A2-Related Neurodevelopmental Disorder" }, { "id": "MONDO:0014625", "name": "EEF1A2-related neurodevelopmental disorder" }, { "id": "MONDO:0014625", "name": "EIEE33" }, { "id": "MONDO:0014625", "name": "developmental and epileptic encephalopathy 33" }, { "id": "MONDO:0014625", "name": "early infantile epileptic encephalopathy caused by mutation in EEF1A2" }, { "id": "MONDO:0014625", "name": "epileptic encephalopathy, early infantile, 33" }, { "id": "MONDO:0014625", "name": "epileptic encephalopathy, early infantile, type 33" }, { "id": "MIM:616409", "name": "Developmental and epileptic encephalopathy 33" } ], "record_url": "http://disease-ontology.org/term/DOID:0080463", "snv_count": 0, "protein_count": 15, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080464", "disease_id": "DOID:0080464", "recommended_name": "developmental and epileptic encephalopathy 53", "synonyms": [ { "id": "DOID:0080464", "name": "DEE53" }, { "id": "DOID:0080464", "name": "early infantile epileptic encephalopathy 53" }, { "id": "MONDO:0033362", "name": "developmental and epileptic encephalopathy, 53" }, { "id": "MONDO:0033362", "name": "DEE53" }, { "id": "MONDO:0033362", "name": "EIEE53" }, { "id": "MONDO:0033362", "name": "developmental and epileptic encephalopathy 53" }, { "id": "MONDO:0033362", "name": "epileptic encephalopathy, early infantile, 53" }, { "id": "MIM:617389", "name": "Developmental and epileptic encephalopathy 53" } ], "record_url": "http://disease-ontology.org/term/DOID:0080464", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080465", "disease_id": "DOID:0080465", "recommended_name": "developmental and epileptic encephalopathy 30", "synonyms": [ { "id": "DOID:0080465", "name": "DEE30" }, { "id": "DOID:0080465", "name": "early infantile epileptic encephalopathy 30" }, { "id": "MONDO:0014595", "name": "developmental and epileptic encephalopathy, 30" }, { "id": "MONDO:0014595", "name": "DEE30" }, { "id": "MONDO:0014595", "name": "EIEE30" }, { "id": "MONDO:0014595", "name": "SIK1 early infantile epileptic encephalopathy" }, { "id": "MONDO:0014595", "name": "developmental and epileptic encephalopathy 30" }, { "id": "MONDO:0014595", "name": "early infantile epileptic encephalopathy caused by mutation in SIK1" }, { "id": "MONDO:0014595", "name": "epileptic encephalopathy, early infantile, 30" }, { "id": "MONDO:0014595", "name": "epileptic encephalopathy, early infantile, type 30" }, { "id": "MIM:616341", "name": "Developmental and epileptic encephalopathy 30" } ], "record_url": "http://disease-ontology.org/term/DOID:0080465", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080467", "disease_id": "DOID:0080467", "recommended_name": "developmental and epileptic encephalopathy 2", "synonyms": [ { "id": "DOID:0080467", "name": "X-linked infantile spasm syndrome 2" }, { "id": "DOID:0080467", "name": "DEE2" }, { "id": "DOID:0080467", "name": "EIEE2" }, { "id": "DOID:0080467", "name": "early infantile epileptic encephalopathy 2" }, { "id": "MONDO:0010396", "name": "developmental and epileptic encephalopathy, 2" }, { "id": "MONDO:0010396", "name": "CDKL5 early infantile epileptic encephalopathy" }, { "id": "MONDO:0010396", "name": "DEE2" }, { "id": "MONDO:0010396", "name": "EIEE2" }, { "id": "MONDO:0010396", "name": "developmental and epileptic encephalopathy 2, X-linked dominant" }, { "id": "MONDO:0010396", "name": "developmental and epileptic encephalopathy, 2" }, { "id": "MONDO:0010396", "name": "early infantile epileptic encephalopathy caused by mutation in CDKL5" }, { "id": "MONDO:0010396", "name": "epileptic encephalopathy, early infantile, 2" }, { "id": "MONDO:0010396", "name": "epileptic encephalopathy, early infantile, type 2" }, { "id": "MIM:300672", "name": "Developmental and epileptic encephalopathy 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080467", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101010" }, { "record_id": "doid.0080468", "disease_id": "DOID:0080468", "recommended_name": "developmental and epileptic encephalopathy 1", "synonyms": [ { "id": "DOID:0080468", "name": "X-linked infantile spasm syndrome 1" }, { "id": "DOID:0080468", "name": "DEE1" }, { "id": "DOID:0080468", "name": "early infantile epileptic encephalopathy 1" }, { "id": "MONDO:0010632", "name": "developmental and epileptic encephalopathy, 1" }, { "id": "MONDO:0010632", "name": "ARX early infantile epileptic encephalopathy" }, { "id": "MONDO:0010632", "name": "DEE1" }, { "id": "MONDO:0010632", "name": "EIEE1" }, { "id": "MONDO:0010632", "name": "developmental and epileptic encephalopathy 1, X-linked recessive" }, { "id": "MONDO:0010632", "name": "early infantile epileptic encephalopathy caused by mutation in ARX" }, { "id": "MONDO:0010632", "name": "early infantile epileptic encephalopathy caused by mutation in arx" }, { "id": "MONDO:0010632", "name": "epileptic encephalopathy, early infantile, 1" }, { "id": "MONDO:0010632", "name": "epileptic encephalopathy, early infantile, type 1" }, { "id": "MONDO:0010632", "name": "XMESID" }, { "id": "MIM:308350", "name": "Developmental and epileptic encephalopathy 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080468", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080470", "disease_id": "DOID:0080470", "recommended_name": "developmental and epileptic encephalopathy 36", "synonyms": [ { "id": "DOID:0080470", "name": "congenital disorder of glycosylation, type Is" }, { "id": "DOID:0080470", "name": "early infantile epileptic encephalopathy 36" }, { "id": "MONDO:0010472", "name": "developmental and epileptic encephalopathy, 36" }, { "id": "MONDO:0010472", "name": "ALG13-CDG" }, { "id": "MONDO:0010472", "name": "CDG syndrome type Is" }, { "id": "MONDO:0010472", "name": "CDG-Is" }, { "id": "MONDO:0010472", "name": "CDG1S" }, { "id": "MONDO:0010472", "name": "DEE36" }, { "id": "MONDO:0010472", "name": "EIEE36" }, { "id": "MONDO:0010472", "name": "congenital disorder of glycosylation type 1s" }, { "id": "MONDO:0010472", "name": "congenital disorder of glycosylation type Is" }, { "id": "MONDO:0010472", "name": "developmental and epileptic encephalopathy 36" }, { "id": "MONDO:0010472", "name": "epileptic encephalopathy, early infantile, 36" }, { "id": "MONDO:0010472", "name": "congenital disorder of glycosylation, type Is" }, { "id": "MIM:300884", "name": "Developmental and epileptic encephalopathy 36" } ], "record_url": "http://disease-ontology.org/term/DOID:0080470", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080471", "disease_id": "DOID:0080471", "recommended_name": "developmental and epileptic encephalopathy 92", "synonyms": [ { "id": "MONDO:0020631", "name": "developmental and epileptic encephalopathy 92" }, { "id": "MONDO:0020631", "name": "DEE92" }, { "id": "MONDO:0020631", "name": "IECEE2" }, { "id": "MONDO:0020631", "name": "developmental and epileptic encephalopathy 92" }, { "id": "MONDO:0020631", "name": "epileptic encephalopathy, infantile or early childhood, 2" }, { "id": "MIM:617829", "name": "Epileptic encephalopathy, infantile or early childhood, 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080471", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080472", "disease_id": "DOID:0080472", "recommended_name": "developmental and epileptic encephalopathy 91", "synonyms": [ { "id": "DOID:0080472", "name": "infantile or early childhood epileptic encephalopathy 1" }, { "id": "MONDO:0020630", "name": "developmental and epileptic encephalopathy 91" }, { "id": "MONDO:0020630", "name": "DEE91" }, { "id": "MONDO:0020630", "name": "developmental and epileptic encephalopathy 91" }, { "id": "MONDO:0020630", "name": "epileptic encephalopathy, infantile or early childhood, 1" }, { "id": "MONDO:0020630", "name": "IECEE1" }, { "id": "MIM:617711", "name": "Epileptic encephalopathy, infantile or early childhood, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080472", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080473", "disease_id": "DOID:0080473", "recommended_name": "developmental delay and seizures with or without movement abnormalities", "synonyms": [ { "id": "MONDO:0044326", "name": "developmental delay and seizures with or without movement abnormalities" }, { "id": "MONDO:0044326", "name": "developmental delay and seizures with or without movement abnormalities" }, { "id": "MONDO:0044326", "name": "DEDSM" }, { "id": "MIM:617836", "name": "Developmental delay and seizures with or without movement abnormalities" } ], "record_url": "http://disease-ontology.org/term/DOID:0080473", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080474", "disease_id": "DOID:0080474", "recommended_name": "pustular psoriasis 14", "synonyms": [ { "id": "DOID:0080474", "name": "deficiency of IL-36R antagonist" }, { "id": "DOID:0080474", "name": "acrodermatitis continua of Hallopeau" }, { "id": "MONDO:0013626", "name": "psoriasis 14, pustular" }, { "id": "MONDO:0013626", "name": "palmoplantar pustulosis" }, { "id": "MONDO:0013626", "name": "DITRA" }, { "id": "MONDO:0013626", "name": "IL36RN psoriasis" }, { "id": "MONDO:0013626", "name": "Interleukin 36 receptor antagonist deficiency" }, { "id": "MONDO:0013626", "name": "PSORP" }, { "id": "MONDO:0013626", "name": "PSORS14" }, { "id": "MONDO:0013626", "name": "acrodermatitis continua of Hallopeau" }, { "id": "MONDO:0013626", "name": "acrodermatitis continua suppurativa of Hallopeau" }, { "id": "MONDO:0013626", "name": "deficiency of IL-36R antagonist" }, { "id": "MONDO:0013626", "name": "deficiency of IL-36Ra" }, { "id": "MONDO:0013626", "name": "deficiency of the interleukin-36 receptor antagonist" }, { "id": "MONDO:0013626", "name": "familial generalised pustular psoriasis" }, { "id": "MONDO:0013626", "name": "psoriasis 14, pustular" }, { "id": "MONDO:0013626", "name": "psoriasis caused by mutation in IL36RN" }, { "id": "MONDO:0013626", "name": "GPP" }, { "id": "MONDO:0013626", "name": "generalised pustular psoriasis" }, { "id": "MIM:614204", "name": "Psoriasis 14, pustular" } ], "record_url": "http://disease-ontology.org/term/DOID:0080474", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080475", "disease_id": "DOID:0080475", "recommended_name": "psoriasis 2", "synonyms": [ { "id": "MONDO:0011269", "name": "psoriasis 2" }, { "id": "MONDO:0011269", "name": "CARD14 psoriasis" }, { "id": "MONDO:0011269", "name": "psoriasis 2" }, { "id": "MONDO:0011269", "name": "psoriasis caused by mutation in CARD14" }, { "id": "MONDO:0011269", "name": "psoriasis type 2" }, { "id": "MONDO:0011269", "name": "PSORS2" }, { "id": "MIM:602723", "name": "Psoriasis 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080475", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080476", "disease_id": "DOID:0080476", "recommended_name": "peroxisome biogenesis disorder 1A", "synonyms": [ { "id": "DOID:0080476", "name": "peroxisome biogenesis disorder 1A (Zellweger)" }, { "id": "MONDO:0008953", "name": "peroxisome biogenesis disorder 1A (Zellweger)" }, { "id": "MONDO:0008953", "name": "peroxisome biogenesis disorder 1A (Zellweger)" }, { "id": "MONDO:0008953", "name": "PBD1A" }, { "id": "MIM:214100", "name": "Peroxisome biogenesis disorder 1A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080476", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080477", "disease_id": "DOID:0080477", "recommended_name": "peroxisome biogenesis disorder 2A", "synonyms": [ { "id": "DOID:0080477", "name": "peroxisome biogenesis disorder 2A (Zellweger)" }, { "id": "MONDO:0008954", "name": "peroxisome biogenesis disorder 2A (Zellweger)" }, { "id": "MONDO:0008954", "name": "peroxisome biogenesis disorder 2A (Zellweger)" }, { "id": "MONDO:0008954", "name": "PBD2A" }, { "id": "MIM:214110", "name": "Peroxisome biogenesis disorder 2A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080477", "snv_count": 0, "protein_count": 11, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.2, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080478", "disease_id": "DOID:0080478", "recommended_name": "peroxisome biogenesis disorder 3A", "synonyms": [ { "id": "DOID:0080478", "name": "peroxisome biogenesis disorder 3A (Zellweger)" }, { "id": "MONDO:0013927", "name": "peroxisome biogenesis disorder 3A (Zellweger)" }, { "id": "MONDO:0013927", "name": "peroxisome biogenesis disorder 3A (Zellweger)" }, { "id": "MONDO:0013927", "name": "PBD3A" }, { "id": "MIM:614859", "name": "Peroxisome biogenesis disorder 3A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080478", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080479", "disease_id": "DOID:0080479", "recommended_name": "peroxisome biogenesis disorder 4A", "synonyms": [ { "id": "DOID:0080479", "name": "peroxisome biogenesis disorder 4A (Zellweger)" }, { "id": "MONDO:0013930", "name": "peroxisome biogenesis disorder 4A (Zellweger)" }, { "id": "MONDO:0013930", "name": "classic peroxisome biogenesis disorder" }, { "id": "MONDO:0013930", "name": "peroxisome biogenesis disorder 4A (Zellweger)" }, { "id": "MONDO:0013930", "name": "PBD4A" }, { "id": "MIM:614862", "name": "Peroxisome biogenesis disorder 4A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080479", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080480", "disease_id": "DOID:0080480", "recommended_name": "peroxisome biogenesis disorder 5A", "synonyms": [ { "id": "DOID:0080480", "name": "peroxisome biogenesis disorder 5A (Zellweger)" }, { "id": "MONDO:0013932", "name": "peroxisome biogenesis disorder 5A (Zellweger)" }, { "id": "MONDO:0013932", "name": "peroxisome biogenesis disorder 5A (Zellweger)" }, { "id": "MONDO:0013932", "name": "PBD5A" }, { "id": "MIM:614866", "name": "Peroxisome biogenesis disorder 5A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080480", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080481", "disease_id": "DOID:0080481", "recommended_name": "peroxisome biogenesis disorder 6A", "synonyms": [ { "id": "DOID:0080481", "name": "peroxisome biogenesis disorder 6A (Zellweger)" }, { "id": "MONDO:0013936", "name": "peroxisome biogenesis disorder 6A (Zellweger)" }, { "id": "MONDO:0013936", "name": "peroxisome biogenesis disorder 6A (Zellweger)" }, { "id": "MONDO:0013936", "name": "PBD6A" }, { "id": "MIM:614870", "name": "Peroxisome biogenesis disorder 6A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080481", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080482", "disease_id": "DOID:0080482", "recommended_name": "peroxisome biogenesis disorder 7A", "synonyms": [ { "id": "DOID:0080482", "name": "peroxisome biogenesis disorder 7A (Zellweger)" }, { "id": "MONDO:0013938", "name": "peroxisome biogenesis disorder 7A (Zellweger)" }, { "id": "MONDO:0013938", "name": "peroxisome biogenesis disorder 7A (Zellweger)" }, { "id": "MONDO:0013938", "name": "PBD7A" }, { "id": "MIM:614872", "name": "Peroxisome biogenesis disorder 7A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080482", "snv_count": 0, "protein_count": 2, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.3, "record_type": "disease", "filter_code": "0000000.100.000000000001100000" }, { "record_id": "doid.0080483", "disease_id": "DOID:0080483", "recommended_name": "peroxisome biogenesis disorder 8A", "synonyms": [ { "id": "DOID:0080483", "name": "peroxisome biogenesis disorder 8A (Zellweger)" }, { "id": "MONDO:0013942", "name": "peroxisome biogenesis disorder 8A (Zellweger)" }, { "id": "MONDO:0013942", "name": "peroxisome biogenesis disorder 8A (Zellweger)" }, { "id": "MONDO:0013942", "name": "PBD8A" }, { "id": "MIM:614876", "name": "Peroxisome biogenesis disorder 8A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080483", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080484", "disease_id": "DOID:0080484", "recommended_name": "peroxisome biogenesis disorder 10A", "synonyms": [ { "id": "DOID:0080484", "name": "peroxisome biogenesis disorder 10A (Zellweger)" }, { "id": "MONDO:0013948", "name": "peroxisome biogenesis disorder 10A (Zellweger)" }, { "id": "MONDO:0013948", "name": "peroxisome biogenesis disorder 10A (Zellweger)" }, { "id": "MONDO:0013948", "name": "PBD10A" }, { "id": "MIM:614882", "name": "Peroxisome biogenesis disorder 10A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080484", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080485", "disease_id": "DOID:0080485", "recommended_name": "peroxisome biogenesis disorder 11A", "synonyms": [ { "id": "DOID:0080485", "name": "peroxisome biogenesis disorder 11A (Zellweger)" }, { "id": "MONDO:0013949", "name": "peroxisome biogenesis disorder 11A (Zellweger)" }, { "id": "MONDO:0013949", "name": "peroxisome biogenesis disorder 11A (Zellweger)" }, { "id": "MONDO:0013949", "name": "PBD11A" }, { "id": "MIM:614883", "name": "Peroxisome biogenesis disorder complementation group 13" } ], "record_url": "http://disease-ontology.org/term/DOID:0080485", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101010" }, { "record_id": "doid.0080486", "disease_id": "DOID:0080486", "recommended_name": "peroxisome biogenesis disorder 12A", "synonyms": [ { "id": "DOID:0080486", "name": "peroxisome biogenesis disorder 12A (Zellweger)" }, { "id": "MONDO:0013951", "name": "peroxisome biogenesis disorder 12A (Zellweger)" }, { "id": "MONDO:0013951", "name": "peroxisome biogenesis disorder 12A (Zellweger)" }, { "id": "MONDO:0013951", "name": "PBD12A" }, { "id": "MIM:614886", "name": "Peroxisome biogenesis disorder 12A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080486", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080487", "disease_id": "DOID:0080487", "recommended_name": "peroxisome biogenesis disorder 13A", "synonyms": [ { "id": "DOID:0080487", "name": "peroxisome biogenesis disorder 13A (Zellweger)" }, { "id": "MONDO:0013952", "name": "peroxisome biogenesis disorder 13A (Zellweger)" }, { "id": "MONDO:0013952", "name": "peroxisome biogenesis disorder 13A (Zellweger)" }, { "id": "MONDO:0013952", "name": "PBD13A" }, { "id": "MIM:614887", "name": "Peroxisome biogenesis disorder complementation group K" } ], "record_url": "http://disease-ontology.org/term/DOID:0080487", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080488", "disease_id": "DOID:0080488", "recommended_name": "mucolipidosis", "synonyms": [ { "id": "MONDO:0009738", "name": "sialidosis type 2" }, { "id": "MONDO:0009738", "name": "sialidosis" }, { "id": "MONDO:0009738", "name": "NEU1 sialidosis" }, { "id": "MONDO:0009738", "name": "dysmorphic sialidosis" }, { "id": "MONDO:0009738", "name": "dysmorphic sialidosis with renal involvement" }, { "id": "MONDO:0009738", "name": "infantile dysmorphic sialidosis" }, { "id": "MONDO:0009738", "name": "mucolipidosis I" }, { "id": "MONDO:0009738", "name": "nephrosialidosis" }, { "id": "MONDO:0009738", "name": "sialidosis caused by mutation in NEU1" }, { "id": "MONDO:0009738", "name": "sialidosis type II" }, { "id": "MONDO:0009738", "name": "sialidosis, type 2" }, { "id": "MONDO:0009738", "name": "sialidosis, type I" }, { "id": "MONDO:0009738", "name": "ML1" }, { "id": "MONDO:0009738", "name": "NEU 1 deficiency" }, { "id": "MONDO:0009738", "name": "mucolipidosis type 1" }, { "id": "MONDO:0009738", "name": "sialidosis, type II" }, { "id": "MIM:256550", "name": "Sialidosis" } ], "record_url": "http://disease-ontology.org/term/DOID:0080488", "snv_count": 0, "protein_count": 12, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.3, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080489", "disease_id": "DOID:0080489", "recommended_name": "GM1 gangliosidosis type 3", "synonyms": [ { "id": "DOID:0080489", "name": "adult-onset GM1 gangliosidosis" }, { "id": "MONDO:0009262", "name": "GM1 gangliosidosis type 3" }, { "id": "MONDO:0009262", "name": "adult-onset GM1 gangliosidosis" }, { "id": "MONDO:0009262", "name": "Beta-galactosidase deficiency type 3" }, { "id": "MONDO:0009262", "name": "adult GM1 gangliosidosis" }, { "id": "MONDO:0009262", "name": "gangliosidosis GM1 type 3" }, { "id": "MONDO:0009262", "name": "gangliosidosis generalised GM1 chronic type" }, { "id": "MONDO:0009262", "name": "gangliosidosis generalized GM1 chronic type" }, { "id": "MONDO:0009262", "name": "gangliosidosis, generalised GM1, adult type" }, { "id": "MONDO:0009262", "name": "gangliosidosis, generalised GM1, chronic type" }, { "id": "MONDO:0009262", "name": "gangliosidosis, generalised GM1, type 3" }, { "id": "MIM:230650", "name": "GM1-gangliosidosis 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080489", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080490", "disease_id": "DOID:0080490", "recommended_name": "mucolipidosis type IV", "synonyms": [ { "id": "MONDO:0009653", "name": "mucolipidosis type IV" }, { "id": "MONDO:0009653", "name": "ML 4" }, { "id": "MONDO:0009653", "name": "ML IV" }, { "id": "MONDO:0009653", "name": "ML4" }, { "id": "MONDO:0009653", "name": "MLIV" }, { "id": "MONDO:0009653", "name": "Mucolipidosis IV" }, { "id": "MONDO:0009653", "name": "mucolipidosis IV" }, { "id": "MONDO:0009653", "name": "mucolipidosis type 4" }, { "id": "MONDO:0009653", "name": "mucolipidosis type IV" }, { "id": "MONDO:0009653", "name": "sialolipidosis" }, { "id": "MONDO:0009653", "name": "Berman syndrome" }, { "id": "MONDO:0009653", "name": "ganglioside neuraminidase deficiency" }, { "id": "MONDO:0009653", "name": "ganglioside sialidase deficiency" }, { "id": "MIM:252650", "name": "Mucolipidosis 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080490", "snv_count": 0, "protein_count": 12, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.3, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080491", "disease_id": "DOID:0080491", "recommended_name": "cerebral cavernous malformation 1", "synonyms": [ { "id": "MONDO:0020724", "name": "cerebral cavernous malformation 1" }, { "id": "MONDO:0020724", "name": "cerebral cavernous malformation 1" }, { "id": "MONDO:0020724", "name": "cerebral cavernous malformations-1" }, { "id": "MONDO:0020724", "name": "familial cerebral cavernous malformation 1" }, { "id": "MONDO:0020724", "name": "CCM" }, { "id": "MONDO:0020724", "name": "cerebral cavernous malformations" }, { "id": "MIM:116860", "name": "Cerebral cavernous malformations 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080491", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080493", "disease_id": "DOID:0080493", "recommended_name": "ovarian dysgenesis 1", "synonyms": [ { "id": "MONDO:0024463", "name": "ovarian dysgenesis 1" }, { "id": "MONDO:0024463", "name": "ODG1" }, { "id": "MONDO:0024463", "name": "ovarian dysgenesis 1" }, { "id": "MONDO:0024463", "name": "XXGD" }, { "id": "MIM:233300", "name": "Ovarian dysgenesis 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080493", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080494", "disease_id": "DOID:0080494", "recommended_name": "ovarian dysgenesis 2", "synonyms": [ { "id": "MONDO:0010349", "name": "ovarian dysgenesis 2" }, { "id": "MONDO:0010349", "name": "BMP15 primary ovarian failure" }, { "id": "MONDO:0010349", "name": "ovarian dysgenesis 2" }, { "id": "MONDO:0010349", "name": "ovarian dysgenesis type 2" }, { "id": "MONDO:0010349", "name": "primary ovarian failure caused by mutation in BMP15" }, { "id": "MONDO:0010349", "name": "ODG2" }, { "id": "MIM:300510", "name": "Ovarian dysgenesis 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080494", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080495", "disease_id": "DOID:0080495", "recommended_name": "ovarian dysgenesis 3", "synonyms": [ { "id": "MONDO:0013689", "name": "ovarian dysgenesis 3" }, { "id": "MONDO:0013689", "name": "46 XX gonadal dysgenesis caused by mutation in PSMC3IP" }, { "id": "MONDO:0013689", "name": "PSMC3IP 46 XX gonadal dysgenesis" }, { "id": "MONDO:0013689", "name": "ovarian dysgenesis 3" }, { "id": "MONDO:0013689", "name": "ovarian dysgenesis type 3" }, { "id": "MONDO:0013689", "name": "ODG3" }, { "id": "MIM:614324", "name": "Ovarian dysgenesis 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080495", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101010" }, { "record_id": "doid.0080496", "disease_id": "DOID:0080496", "recommended_name": "ovarian dysgenesis 4", "synonyms": [ { "id": "MONDO:0014520", "name": "46,XX ovarian dysgenesis-short stature syndrome" }, { "id": "MONDO:0014520", "name": "ovarian dysgenesis type 4" }, { "id": "MONDO:0014520", "name": "ODG4" }, { "id": "MONDO:0014520", "name": "ovarian dysgenesis 4" }, { "id": "MIM:616185", "name": "Ovarian dysgenesis 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080496", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080497", "disease_id": "DOID:0080497", "recommended_name": "ovarian dysgenesis 5", "synonyms": [ { "id": "MONDO:0054666", "name": "ovarian dysgenesis 5" }, { "id": "MONDO:0054666", "name": "ovarian dysgenesis 5" }, { "id": "MONDO:0054666", "name": "ODG5" }, { "id": "MIM:617690", "name": "Ovarian dysgenesis 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0080497", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080498", "disease_id": "DOID:0080498", "recommended_name": "ovarian dysgenesis 6", "synonyms": [ { "id": "MONDO:0054850", "name": "ovarian dysgenesis 6" }, { "id": "MONDO:0054850", "name": "ovarian dysgenesis 6" }, { "id": "MONDO:0054850", "name": "ODG6" }, { "id": "MIM:618078", "name": "Ovarian dysgenesis 6" } ], "record_url": "http://disease-ontology.org/term/DOID:0080498", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080499", "disease_id": "DOID:0080499", "recommended_name": "ovarian dysgenesis 7", "synonyms": [ { "id": "MONDO:0020857", "name": "ovarian dysgenesis 7" }, { "id": "MONDO:0020857", "name": "ODG7" }, { "id": "MONDO:0020857", "name": "OVARIAN DYSGENESIS 7" }, { "id": "MIM:618117", "name": "Ovarian dysgenesis 7" } ], "record_url": "http://disease-ontology.org/term/DOID:0080499", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000100001100000" }, { "record_id": "doid.0080500", "disease_id": "DOID:0080500", "recommended_name": "ovarian dysgenesis 8", "synonyms": [ { "id": "MONDO:0032590", "name": "ovarian dysgenesis 8" }, { "id": "MONDO:0032590", "name": "ODG8" }, { "id": "MIM:618187", "name": "Ovarian dysgenesis 8" } ], "record_url": "http://disease-ontology.org/term/DOID:0080500", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080501", "disease_id": "DOID:0080501", "recommended_name": "GM1 gangliosidosis type 2", "synonyms": [ { "id": "DOID:0080501", "name": "juvenile GM1 gangliosidosis" }, { "id": "MONDO:0009261", "name": "GM1 gangliosidosis type 2" }, { "id": "MONDO:0009261", "name": "juvenile GM1 gangliosidosis" }, { "id": "MONDO:0009261", "name": "late-infantile GM1 gangliosidosis" }, { "id": "MONDO:0009261", "name": "gangliosidosis generalised GM1 juvenile type" }, { "id": "MONDO:0009261", "name": "gangliosidosis generalised GM1 type 2" }, { "id": "MONDO:0009261", "name": "gangliosidosis generalized GM1 juvenile type" }, { "id": "MONDO:0009261", "name": "gangliosidosis generalized GM1 type 2" }, { "id": "MONDO:0009261", "name": "gangliosidosis, generalised GM1, juvenile type" }, { "id": "MONDO:0009261", "name": "gangliosidosis, generalised GM1, late-infantile type" }, { "id": "MONDO:0009261", "name": "gangliosidosis, generalised GM1, type 2" }, { "id": "MIM:230600", "name": "GM1-gangliosidosis 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080501", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080502", "disease_id": "DOID:0080502", "recommended_name": "GM1 gangliosidosis type 1", "synonyms": [ { "id": "MONDO:0009260", "name": "GM1 gangliosidosis type 1" }, { "id": "MONDO:0009260", "name": "Norman-Landing disease" }, { "id": "MONDO:0009260", "name": "infantile GM1 gangliosidosis" }, { "id": "MONDO:0009260", "name": "Beta galactosidase deficiency type 1" }, { "id": "MONDO:0009260", "name": "GLB deficiency type 1" }, { "id": "MONDO:0009260", "name": "gangliosidosis generalised GM1 infantile form" }, { "id": "MONDO:0009260", "name": "gangliosidosis generalised GM1 type 1" }, { "id": "MONDO:0009260", "name": "gangliosidosis generalized GM1 infantile form" }, { "id": "MONDO:0009260", "name": "gangliosidosis generalized GM1 type 1" }, { "id": "MONDO:0009260", "name": "gangliosidosis, generalised GM1, infantile form" }, { "id": "MONDO:0009260", "name": "gangliosidosis, generalised GM1, type 1" }, { "id": "MONDO:0009260", "name": "gangliosidosis, generalised GM1, type I, with Cardiac involvement" }, { "id": "MIM:230500", "name": "GM1-gangliosidosis 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080502", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080503", "disease_id": "DOID:0080503", "recommended_name": "multiple congenital anomalies-hypotonia-seizures syndrome", "synonyms": [ { "id": "MONDO:0013563", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1" }, { "id": "MONDO:0013563", "name": "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability" }, { "id": "MONDO:0013563", "name": "PIGN-CDG" }, { "id": "MONDO:0013563", "name": "congenital disorder of glycosylation due to PIGN deficiency" }, { "id": "MONDO:0013563", "name": "inherited GPI anchor-deficiency" }, { "id": "MONDO:0013563", "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1" }, { "id": "MONDO:0013563", "name": "multiple congenital anomalies-hypotonia-seizures syndrome type 1" }, { "id": "MONDO:0013563", "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN" }, { "id": "MONDO:0013563", "name": "PIGN-related inherited GPI deficiency" }, { "id": "MONDO:0013563", "name": "MCAHS1" }, { "id": "MONDO:0013563", "name": "multiple congenital anomalies - hypotonia - seizures syndrome" }, { "id": "MIM:614080", "name": "Multiple congenital anomalies-hypotonia-seizures syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080503", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0080504", "disease_id": "DOID:0080504", "recommended_name": "Parkinson's disease 22", "synonyms": [ { "id": "DOID:0080504", "name": "autosomal dominant Parkinson's disease 22" }, { "id": "MONDO:0014742", "name": "Parkinson disease 22, autosomal dominant" }, { "id": "MONDO:0014742", "name": "CHCHD2 Parkinson disease" }, { "id": "MONDO:0014742", "name": "PARK22" }, { "id": "MONDO:0014742", "name": "Parkinson disease 22, autosomal dominant" }, { "id": "MONDO:0014742", "name": "Parkinson disease 22, autosomal dominant; PARK22" }, { "id": "MONDO:0014742", "name": "Parkinson disease caused by mutation in CHCHD2" }, { "id": "MIM:616710", "name": "Parkinson disease 22" } ], "record_url": "http://disease-ontology.org/term/DOID:0080504", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080505", "disease_id": "DOID:0080505", "recommended_name": "Cornelia de Lange syndrome 1", "synonyms": [ { "id": "MONDO:0007387", "name": "Cornelia de Lange syndrome 1" }, { "id": "MONDO:0007387", "name": "Cornelia De Lange syndrome type 1" }, { "id": "MONDO:0007387", "name": "Cornelia de Lange syndrome 1" }, { "id": "MONDO:0007387", "name": "Cornelia de Lange syndrome caused by mutation in NIPBL" }, { "id": "MONDO:0007387", "name": "NIPBL Cornelia de Lange syndrome" }, { "id": "MONDO:0007387", "name": "CDLS1" }, { "id": "MIM:122470", "name": "Cornelia de Lange syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080505", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080506", "disease_id": "DOID:0080506", "recommended_name": "Cornelia de Lange syndrome 2", "synonyms": [ { "id": "MONDO:0010370", "name": "Cornelia de Lange syndrome 2" }, { "id": "MONDO:0010370", "name": "Cornelia De Lange syndrome type 2" }, { "id": "MONDO:0010370", "name": "Cornelia de Lange syndrome 2" }, { "id": "MONDO:0010370", "name": "Cornelia de Lange syndrome 2, X-linked dominant" }, { "id": "MONDO:0010370", "name": "Cornelia de Lange syndrome caused by mutation in SMC1A" }, { "id": "MONDO:0010370", "name": "SMC1A Cornelia de Lange syndrome" }, { "id": "MONDO:0010370", "name": "X-linked Cornelia De Lange syndrome" }, { "id": "MONDO:0010370", "name": "CDLS2" }, { "id": "MIM:300590", "name": "Cornelia de Lange syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080506", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080507", "disease_id": "DOID:0080507", "recommended_name": "Cornelia de Lange syndrome 3", "synonyms": [ { "id": "DOID:0080507", "name": "CDLS3" }, { "id": "DOID:0080507", "name": "Cornelia De Lange syndrome 3 with or without midline brain defects" }, { "id": "MONDO:0012555", "name": "Cornelia de Lange syndrome 3" }, { "id": "MONDO:0012555", "name": "Cornelia De Lange syndrome type 3" }, { "id": "MONDO:0012555", "name": "Cornelia de Lange syndrome 3" }, { "id": "MONDO:0012555", "name": "Cornelia de Lange syndrome caused by mutation in SMC3" }, { "id": "MONDO:0012555", "name": "Cornelia de Lange syndrome caused by mutation in Smc3" }, { "id": "MONDO:0012555", "name": "SMC3 Cornelia de Lange syndrome" }, { "id": "MONDO:0012555", "name": "Smc3 Cornelia de Lange syndrome" }, { "id": "MONDO:0012555", "name": "CDLS3" }, { "id": "MIM:610759", "name": "Cornelia de Lange syndrome 3 with or without midline brain defects" } ], "record_url": "http://disease-ontology.org/term/DOID:0080507", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080508", "disease_id": "DOID:0080508", "recommended_name": "Cornelia de Lange syndrome 4", "synonyms": [ { "id": "DOID:0080508", "name": "CDLS4" }, { "id": "DOID:0080508", "name": "Cornelia De Lange syndrome 4 with or without midline brain defects" }, { "id": "MONDO:0013864", "name": "Cornelia de Lange syndrome 4" }, { "id": "MONDO:0013864", "name": "Cornelia De Lange syndrome type 4" }, { "id": "MONDO:0013864", "name": "Cornelia de Lange syndrome 4" }, { "id": "MONDO:0013864", "name": "Cornelia de Lange syndrome caused by mutation in RAD21" }, { "id": "MONDO:0013864", "name": "RAD21 Cornelia de Lange syndrome" }, { "id": "MONDO:0013864", "name": "CDLS4" }, { "id": "MIM:614701", "name": "Cornelia de Lange syndrome 4 with or without midline brain defects" } ], "record_url": "http://disease-ontology.org/term/DOID:0080508", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080509", "disease_id": "DOID:0080509", "recommended_name": "Cornelia de Lange syndrome 5", "synonyms": [ { "id": "MONDO:0010471", "name": "Cornelia de Lange syndrome 5" }, { "id": "MONDO:0010471", "name": "Cornelia De Lange syndrome type 5" }, { "id": "MONDO:0010471", "name": "Cornelia de Lange syndrome 5" }, { "id": "MONDO:0010471", "name": "Cornelia de Lange syndrome 5, X-linked dominant" }, { "id": "MONDO:0010471", "name": "CDLS5" }, { "id": "MIM:300882", "name": "Cornelia de Lange syndrome 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0080509", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080510", "disease_id": "DOID:0080510", "recommended_name": "epidermolysis bullosa simplex 1C", "synonyms": [ { "id": "DOID:0080510", "name": "epidermolysis bullosa simplex localized type" }, { "id": "DOID:0080510", "name": "epidermolysis bullosa simplex Weber-Cockayne type" }, { "id": "MONDO:0007551", "name": "epidermolysis bullosa simplex 1C, localized" }, { "id": "MONDO:0007551", "name": "EBS-loc" }, { "id": "MONDO:0007551", "name": "epidermolysis bullosa simplex 1C, localized" }, { "id": "MONDO:0007551", "name": "epidermolysis bullosa simplex of palms and soles" }, { "id": "MONDO:0007551", "name": "epidermolysis bullosa simplex, Weber-Cockayne type" }, { "id": "MONDO:0007551", "name": "localised epidermolysis bullosa simplex" }, { "id": "MONDO:0007551", "name": "localized epidermolysis bullosa simplex" }, { "id": "MONDO:0007551", "name": "Weber-Cockayne syndrome" }, { "id": "MONDO:0007551", "name": "Weber-Cockayne type epidermolysis bullosa simplex" }, { "id": "MONDO:0007551", "name": "epidermolysis bullosa simplex, localised" }, { "id": "MIM:131800", "name": "Epidermolysis bullosa simplex 1C, localized" } ], "record_url": "http://disease-ontology.org/term/DOID:0080510", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0080511", "disease_id": "DOID:0080511", "recommended_name": "generalized intermediate epidermolysis bullosa simplex 1B", "synonyms": [ { "id": "DOID:0080511", "name": "epidermolysis bullosa simplex generalized type" }, { "id": "DOID:0080511", "name": "epidermolysis bullosa simplex Koebner type" }, { "id": "MONDO:0007554", "name": "epidermolysis bullosa simplex 1B, generalized intermediate" }, { "id": "MONDO:0007554", "name": "EBS, generalised intermediate" }, { "id": "MONDO:0007554", "name": "EBS, generalized intermediate" }, { "id": "MONDO:0007554", "name": "epidermolysis bullosa simplex 1B, generalized intermediate" }, { "id": "MONDO:0007554", "name": "epidermolysis bullosa simplex, Kobner type" }, { "id": "MONDO:0007554", "name": "epidermolysis bullosa simplex, Koebner type" }, { "id": "MONDO:0007554", "name": "epidermolysis bullosa simplex, Kbner type" }, { "id": "MONDO:0007554", "name": "generalised EBS, non-Dowling-Meara type" }, { "id": "MONDO:0007554", "name": "generalised epidermolysis bullosa simplex, non-Dowling-Meara type" }, { "id": "MONDO:0007554", "name": "generalized EBS, non-Dowling-Meara type" }, { "id": "MONDO:0007554", "name": "generalized epidermolysis bullosa simplex, non-Dowling-Meara type" }, { "id": "MONDO:0007554", "name": "EBS, generalised" }, { "id": "MONDO:0007554", "name": "EBS-K" }, { "id": "MONDO:0007554", "name": "epidermolysis bullosa simplex, generalised" }, { "id": "MONDO:0007554", "name": "epidermolysis bullosa simplex, generalised intermediate" }, { "id": "MONDO:0007554", "name": "epidermolysis bullosa simplex, generalised non-Dowling-Meara" }, { "id": "MONDO:0007554", "name": "epidermolysis bullosa simplex, generalized non-Dowling-Meara" }, { "id": "MONDO:0007554", "name": "generalised EBS" }, { "id": "MONDO:0007554", "name": "generalized EBS" }, { "id": "MIM:131900", "name": "Epidermolysis bullosa simplex 1B, generalized intermediate" } ], "record_url": "http://disease-ontology.org/term/DOID:0080511", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0080512", "disease_id": "DOID:0080512", "recommended_name": "Meier-Gorlin syndrome 1", "synonyms": [ { "id": "MONDO:0009143", "name": "Meier-Gorlin syndrome 1" }, { "id": "MONDO:0009143", "name": "Meier-Gorlin syndrome 1" }, { "id": "MONDO:0009143", "name": "Meier-Gorlin syndrome caused by mutation in ORC1" }, { "id": "MONDO:0009143", "name": "Meier-Gorlin syndrome type 1" }, { "id": "MONDO:0009143", "name": "ORC1 Meier-Gorlin syndrome" }, { "id": "MONDO:0009143", "name": "MGORS1" }, { "id": "MIM:224690", "name": "Meier-Gorlin syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080512", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080513", "disease_id": "DOID:0080513", "recommended_name": "Meier-Gorlin syndrome 2", "synonyms": [ { "id": "MONDO:0013428", "name": "Meier-Gorlin syndrome 2" }, { "id": "MONDO:0013428", "name": "Meier-Gorlin syndrome 2" }, { "id": "MONDO:0013428", "name": "Meier-Gorlin syndrome caused by mutation in ORC4" }, { "id": "MONDO:0013428", "name": "Meier-Gorlin syndrome type 2" }, { "id": "MONDO:0013428", "name": "ORC4 Meier-Gorlin syndrome" }, { "id": "MONDO:0013428", "name": "MGORS2" }, { "id": "MIM:613800", "name": "Meier-Gorlin syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080513", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080514", "disease_id": "DOID:0080514", "recommended_name": "Meier-Gorlin syndrome 3", "synonyms": [ { "id": "MONDO:0013430", "name": "Meier-Gorlin syndrome 3" }, { "id": "MONDO:0013430", "name": "Meier-Gorlin syndrome 3" }, { "id": "MONDO:0013430", "name": "Meier-Gorlin syndrome caused by mutation in ORC6" }, { "id": "MONDO:0013430", "name": "Meier-Gorlin syndrome type 3" }, { "id": "MONDO:0013430", "name": "ORC6 Meier-Gorlin syndrome" }, { "id": "MONDO:0013430", "name": "MGORS3" }, { "id": "MIM:613803", "name": "Meier-Gorlin syndrome 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080514", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080515", "disease_id": "DOID:0080515", "recommended_name": "Meier-Gorlin syndrome 4", "synonyms": [ { "id": "MONDO:0013431", "name": "Meier-Gorlin syndrome 4" }, { "id": "MONDO:0013431", "name": "CDT1 Meier-Gorlin syndrome" }, { "id": "MONDO:0013431", "name": "Meier-Gorlin syndrome 4" }, { "id": "MONDO:0013431", "name": "Meier-Gorlin syndrome caused by mutation in CDT1" }, { "id": "MONDO:0013431", "name": "Meier-Gorlin syndrome type 4" }, { "id": "MONDO:0013431", "name": "MGORS4" }, { "id": "MIM:613804", "name": "Meier-Gorlin syndrome 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080515", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080516", "disease_id": "DOID:0080516", "recommended_name": "Meier-Gorlin syndrome 5", "synonyms": [ { "id": "MONDO:0013432", "name": "Meier-Gorlin syndrome 5" }, { "id": "MONDO:0013432", "name": "CDC6 Meier-Gorlin syndrome" }, { "id": "MONDO:0013432", "name": "Meier-Gorlin syndrome 5" }, { "id": "MONDO:0013432", "name": "Meier-Gorlin syndrome caused by mutation in CDC6" }, { "id": "MONDO:0013432", "name": "Meier-Gorlin syndrome type 5" }, { "id": "MONDO:0013432", "name": "MGORS5" }, { "id": "MIM:613805", "name": "Meier-Gorlin syndrome 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0080516", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080517", "disease_id": "DOID:0080517", "recommended_name": "Meier-Gorlin syndrome 6", "synonyms": [ { "id": "MONDO:0014794", "name": "Meier-Gorlin syndrome 6" }, { "id": "MONDO:0014794", "name": "GMNN Meier-Gorlin syndrome" }, { "id": "MONDO:0014794", "name": "MGORS6" }, { "id": "MONDO:0014794", "name": "Meier-Gorlin syndrome 6" }, { "id": "MONDO:0014794", "name": "Meier-Gorlin syndrome caused by mutation in GMNN" }, { "id": "MONDO:0014794", "name": "Meier-Gorlin syndrome type 6" }, { "id": "MIM:616835", "name": "Meier-Gorlin syndrome 6" } ], "record_url": "http://disease-ontology.org/term/DOID:0080517", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080518", "disease_id": "DOID:0080518", "recommended_name": "Meier-Gorlin syndrome 7", "synonyms": [ { "id": "MONDO:0014894", "name": "Meier-Gorlin syndrome 7" }, { "id": "MONDO:0014894", "name": "CDC45 Meier-Gorlin syndrome" }, { "id": "MONDO:0014894", "name": "MGORS7" }, { "id": "MONDO:0014894", "name": "Meier-Gorlin syndrome 7" }, { "id": "MONDO:0014894", "name": "Meier-Gorlin syndrome 7; MGORS7" }, { "id": "MONDO:0014894", "name": "Meier-Gorlin syndrome caused by mutation in CDC45" }, { "id": "MONDO:0014894", "name": "Meier-Gorlin syndrome type 7" }, { "id": "MIM:617063", "name": "Meier-Gorlin syndrome 7" } ], "record_url": "http://disease-ontology.org/term/DOID:0080518", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080519", "disease_id": "DOID:0080519", "recommended_name": "PAPA syndrome", "synonyms": [ { "id": "DOID:0080519", "name": "pyogenic arthritis, pyoderma gangrenosum and acne" }, { "id": "DOID:0080519", "name": "pyogenic sterile arthritis, pyoderma gangrenosum, and acne" }, { "id": "MONDO:0011462", "name": "pyogenic arthritis-pyoderma gangrenosum-acne syndrome" }, { "id": "MONDO:0011462", "name": "FRA" }, { "id": "MONDO:0011462", "name": "PAPA" }, { "id": "MONDO:0011462", "name": "familial recurrent arthritis" }, { "id": "MONDO:0011462", "name": "fra" }, { "id": "MONDO:0011462", "name": "papa" }, { "id": "MONDO:0011462", "name": "papa syndrome" }, { "id": "MONDO:0011462", "name": "Papas" }, { "id": "MONDO:0011462", "name": "pyogenic arthritis, pyoderma gangrenosum and acne" }, { "id": "MONDO:0011462", "name": "pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne" }, { "id": "MIM:604416", "name": "Pyogenic sterile arthritis, pyoderma gangrenosum, and acne" } ], "record_url": "http://disease-ontology.org/term/DOID:0080519", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001100011" }, { "record_id": "doid.0080520", "disease_id": "DOID:0080520", "recommended_name": "Tn polyagglutination syndrome", "synonyms": [ { "id": "DOID:0080520", "name": "galactosyltransferase deficiency" }, { "id": "MONDO:0010381", "name": "Tn polyagglutination syndrome" }, { "id": "MONDO:0010381", "name": "Tn polyagglutination syndrome" }, { "id": "MONDO:0010381", "name": "Tn polyagglutination syndrome, somatic" }, { "id": "MONDO:0010381", "name": "TNPS" }, { "id": "MIM:300622", "name": "Tn polyagglutination syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080520", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080521", "disease_id": "DOID:0080521", "recommended_name": "lung non-squamous non-small cell carcinoma", "synonyms": [ { "id": "DOID:0080521", "name": "non- squamous NSCLC" } ], "record_url": "http://disease-ontology.org/term/DOID:0080521", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080522", "disease_id": "DOID:0080522", "recommended_name": "anaplastic thyroid carcinoma", "synonyms": [ { "id": "DOID:0080522", "name": "thyroid gland anaplastic carcinoma" } ], "record_url": "http://disease-ontology.org/term/DOID:0080522", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080523", "disease_id": "DOID:0080523", "recommended_name": "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia", "synonyms": [ { "id": "DOID:0080523", "name": "hereditary diffuse leukoencephalopathy with spheroids" }, { "id": "MONDO:0800027", "name": "leukoencephalopathy, diffuse hereditary, with spheroids 1" }, { "id": "MONDO:0800027", "name": "HDLS" }, { "id": "MONDO:0800027", "name": "hereditary diffuse leukoencephalopathy with spheroids" }, { "id": "MONDO:0800027", "name": "leukoencephalopathy, diffuse hereditary, with spheroids" }, { "id": "MONDO:0800027", "name": "leukoencephalopathy, hereditary diffuse, with spheroids" }, { "id": "MONDO:0800027", "name": "ALSP" }, { "id": "MONDO:0800027", "name": "Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia" }, { "id": "MONDO:0800027", "name": "CSF1R-related ALSP" }, { "id": "MONDO:0800027", "name": "CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" }, { "id": "MONDO:0800027", "name": "FPSG" }, { "id": "MONDO:0800027", "name": "GPSC" }, { "id": "MONDO:0800027", "name": "POLD" }, { "id": "MONDO:0800027", "name": "adult-onset leukoencephalopathy with axonal spheroids and pigmented glia" }, { "id": "MONDO:0800027", "name": "autosomal dominant leukoencephalopathy with neuroaxonal spheroids" }, { "id": "MONDO:0800027", "name": "dementia, familial, Neumann type" }, { "id": "MONDO:0800027", "name": "familial dementia, Neumann type" }, { "id": "MONDO:0800027", "name": "familial progressive subcortical gliosis" }, { "id": "MONDO:0800027", "name": "gliosis, familial progressive subcortical" }, { "id": "MONDO:0800027", "name": "leukoencephalopathy with neuroaxonal spheroids, autosomal dominant" }, { "id": "MONDO:0800027", "name": "leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia" }, { "id": "MONDO:0800027", "name": "pigmentary orthochromatic leukodystrophy" }, { "id": "MONDO:0800027", "name": "subcortical gliosis of Neumann" }, { "id": "MONDO:0800027", "name": "adult-onset leukodystrophy with neuroaxonal spheroids" }, { "id": "MONDO:0800027", "name": "hereditary diffuse leukoencephalopathy with axonal spheroids" }, { "id": "MONDO:0800027", "name": "neuroaxonal leukodystrophy" }, { "id": "MIM:221820", "name": "Leukoencephalopathy, hereditary diffuse, with spheroids 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080523", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080526", "disease_id": "DOID:0080526", "recommended_name": "bronchiectasis 1", "synonyms": [ { "id": "MONDO:0008887", "name": "bronchiectasis with or without elevated sweat chloride 1" }, { "id": "MONDO:0008887", "name": "bronchiectasis with or without elevated sweat chloride 1" }, { "id": "MONDO:0008887", "name": "bronchiectasis with or without elevated sweat chloride 1, modifier of" }, { "id": "MONDO:0008887", "name": "bronchiectasis with or without elevated sweat chloride type 1" }, { "id": "MONDO:0008887", "name": "BESC1" }, { "id": "MIM:211400", "name": "Bronchiectasis with or without elevated sweat chloride 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080526", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080527", "disease_id": "DOID:0080527", "recommended_name": "bronchiectasis 2", "synonyms": [ { "id": "MONDO:0013087", "name": "bronchiectasis with or without elevated sweat chloride 2" }, { "id": "MONDO:0013087", "name": "SCNN1A bronchiectasis" }, { "id": "MONDO:0013087", "name": "bronchiectasis caused by mutation in SCNN1A" }, { "id": "MONDO:0013087", "name": "bronchiectasis with or without elevated sweat chloride 2" }, { "id": "MONDO:0013087", "name": "bronchiectasis with or without elevated sweat chloride type 2" }, { "id": "MONDO:0013087", "name": "BESC2" }, { "id": "MIM:613021", "name": "Bronchiectasis with or without elevated sweat chloride 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080527", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080528", "disease_id": "DOID:0080528", "recommended_name": "bronchiectasis 3", "synonyms": [ { "id": "MONDO:0013112", "name": "bronchiectasis with or without elevated sweat chloride 3" }, { "id": "MONDO:0013112", "name": "SCNN1G bronchiectasis" }, { "id": "MONDO:0013112", "name": "bronchiectasis caused by mutation in SCNN1G" }, { "id": "MONDO:0013112", "name": "bronchiectasis with or without elevated sweat chloride 3" }, { "id": "MONDO:0013112", "name": "bronchiectasis with or without elevated sweat chloride type 3" }, { "id": "MONDO:0013112", "name": "BESC3" }, { "id": "MIM:613071", "name": "Bronchiectasis with or without elevated sweat chloride 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080528", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080530", "disease_id": "DOID:0080530", "recommended_name": "granular corneal dystrophy 1", "synonyms": [ { "id": "DOID:0080530", "name": "corneal dystrophy, Groenouw type I" }, { "id": "MONDO:0007377", "name": "granular corneal dystrophy type I" }, { "id": "MONDO:0007377", "name": "GCD1" }, { "id": "MONDO:0007377", "name": "GCDI" }, { "id": "MONDO:0007377", "name": "classic GCD" }, { "id": "MONDO:0007377", "name": "classic granular corneal dystrophy" }, { "id": "MONDO:0007377", "name": "corneal dystrophy Groenouw type I" }, { "id": "MONDO:0007377", "name": "granular corneal dystrophy type 1" }, { "id": "MONDO:0007377", "name": "CDGG1" }, { "id": "MONDO:0007377", "name": "Groenouw type I corneal dystrophy" }, { "id": "MONDO:0007377", "name": "corneal dystrophy granular type" }, { "id": "MONDO:0007377", "name": "corneal dystrophy punctate or nodular" }, { "id": "MONDO:0007377", "name": "corneal dystrophy, Groenouw type I" }, { "id": "MIM:121900", "name": "Corneal dystrophy, Groenouw type 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080530", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080533", "disease_id": "DOID:0080533", "recommended_name": "Carney-Stratakis syndrome", "synonyms": [ { "id": "MONDO:0011740", "name": "Carney-Stratakis syndrome" }, { "id": "MONDO:0011740", "name": "Carney dyad" }, { "id": "MONDO:0011740", "name": "Carney-Stratakis dyad" }, { "id": "MONDO:0011740", "name": "Carney-Stratakis syndrome" }, { "id": "MONDO:0011740", "name": "gist-paraganglioma dyad" }, { "id": "MONDO:0011740", "name": "paraganglioma and gastric stromal sarcoma" }, { "id": "MONDO:0011740", "name": "Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma" }, { "id": "MONDO:0011740", "name": "paraganglioma and gastrointestinal stromal tumour" }, { "id": "MONDO:0011740", "name": "paraganglioma and gist" }, { "id": "MIM:606864", "name": "Paraganglioma and gastric stromal sarcoma" } ], "record_url": "http://disease-ontology.org/term/DOID:0080533", "snv_count": 0, "protein_count": 24, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080535", "disease_id": "DOID:0080535", "recommended_name": "hypermanganesemia with dystonia", "synonyms": [ { "id": "MONDO:0013208", "name": "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome" }, { "id": "MONDO:0013208", "name": "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome" }, { "id": "MONDO:0013208", "name": "HMDPC" }, { "id": "MONDO:0013208", "name": "HMNDYT1" }, { "id": "MONDO:0013208", "name": "hypermanganesemia with dystonia polycythemia and cirrhosis" }, { "id": "MONDO:0013208", "name": "hypermanganesemia with dystonia, polycythemia, and cirrhosis" }, { "id": "MIM:613280", "name": "Hypermanganesemia with dystonia 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080535", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0080536", "disease_id": "DOID:0080536", "recommended_name": "hypermanganesemia with dystonia 1", "synonyms": [ { "id": "MONDO:0013208", "name": "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome" }, { "id": "MONDO:0013208", "name": "cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome" }, { "id": "MONDO:0013208", "name": "HMDPC" }, { "id": "MONDO:0013208", "name": "HMNDYT1" }, { "id": "MONDO:0013208", "name": "hypermanganesemia with dystonia polycythemia and cirrhosis" }, { "id": "MONDO:0013208", "name": "hypermanganesemia with dystonia, polycythemia, and cirrhosis" }, { "id": "MIM:613280", "name": "Hypermanganesemia with dystonia 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080536", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080537", "disease_id": "DOID:0080537", "recommended_name": "hypermanganesemia with dystonia 2", "synonyms": [ { "id": "MONDO:0014864", "name": "hypermanganesemia with dystonia 2" }, { "id": "MONDO:0014864", "name": "HMNDYT2" }, { "id": "MONDO:0014864", "name": "SLC39A14 hypermanganesemia with dystonia" }, { "id": "MONDO:0014864", "name": "hypermanganesemia with dystonia 2" }, { "id": "MONDO:0014864", "name": "hypermanganesemia with dystonia 2; HMNDYT2" }, { "id": "MONDO:0014864", "name": "hypermanganesemia with dystonia caused by mutation in SLC39A14" }, { "id": "MONDO:0014864", "name": "hypermanganesemia with dystonia type 2" }, { "id": "MIM:617013", "name": "Hypermanganesemia with dystonia 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080537", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080538", "disease_id": "DOID:0080538", "recommended_name": "Sweeney-Cox syndrome", "synonyms": [ { "id": "MONDO:0060592", "name": "Sweeney-Cox syndrome" }, { "id": "MONDO:0060592", "name": "Sweeney-Cox syndrome" }, { "id": "MONDO:0060592", "name": "SWCOS" }, { "id": "MIM:617746", "name": "Sweeney-Cox syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080538", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080539", "disease_id": "DOID:0080539", "recommended_name": "PEHO syndrome", "synonyms": [ { "id": "MONDO:0009841", "name": "PEHO syndrome" }, { "id": "MONDO:0009841", "name": "peho syndrome" }, { "id": "MONDO:0009841", "name": "progressive encephalopathy with edema, hypsarrhythmia and optic atrophy" }, { "id": "MONDO:0009841", "name": "progressive encephalopathy-optic atrophy syndrome" }, { "id": "MIM:260565", "name": "PEHO syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080539", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080540", "disease_id": "DOID:0080540", "recommended_name": "galactosialidosis", "synonyms": [ { "id": "MONDO:0009737", "name": "galactosialidosis" }, { "id": "MONDO:0009737", "name": "Goldberg syndrome" }, { "id": "MONDO:0009737", "name": "galactosialidosis" }, { "id": "MONDO:0009737", "name": "neuraminidase deficiency with beta-galactosidase deficiency" }, { "id": "MONDO:0009737", "name": "GSL" }, { "id": "MONDO:0009737", "name": "cathepsin A deficiency of" }, { "id": "MONDO:0009737", "name": "lysosomal protective protein deficiency of" }, { "id": "MIM:256540", "name": "Galactosialidosis" } ], "record_url": "http://disease-ontology.org/term/DOID:0080540", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101010" }, { "record_id": "doid.0080542", "disease_id": "DOID:0080542", "recommended_name": "hyperprolinemia type 1", "synonyms": [ { "id": "DOID:0080542", "name": "hyperprolinemia type I" }, { "id": "MONDO:0009400", "name": "hyperprolinemia type 1" }, { "id": "MONDO:0009400", "name": "PRODH hyperprolinemia" }, { "id": "MONDO:0009400", "name": "hyperprolinemia caused by mutation in PRODH" }, { "id": "MONDO:0009400", "name": "hyperprolinemia type 1" }, { "id": "MONDO:0009400", "name": "proline oxidase deficiency" }, { "id": "MONDO:0009400", "name": "HPI" }, { "id": "MONDO:0009400", "name": "HYRPRO1" }, { "id": "MONDO:0009400", "name": "hyperprolinemia, type I" }, { "id": "MIM:239500", "name": "Hyperprolinemia 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080542", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080543", "disease_id": "DOID:0080543", "recommended_name": "hyperprolinemia type 2", "synonyms": [ { "id": "DOID:0080543", "name": "hyperprolinemia type II" }, { "id": "MONDO:0009401", "name": "hyperprolinemia type 2" }, { "id": "MONDO:0009401", "name": "1-pyrroline-5-carboxylate dehydrogenase activity disease" }, { "id": "MONDO:0009401", "name": "ALDH4A1 hyperprolinemia" }, { "id": "MONDO:0009401", "name": "delta-1-pyrroline-5-carboxylate dehydrogenase deficiency" }, { "id": "MONDO:0009401", "name": "delta1-pyrroline-5-carboxylate dehydrogenase deficiency" }, { "id": "MONDO:0009401", "name": "disorder of 1-pyrroline-5-carboxylate dehydrogenase activity" }, { "id": "MONDO:0009401", "name": "hyperprolinemia caused by mutation in ALDH4A1" }, { "id": "MONDO:0009401", "name": "hyperprolinemia type 2" }, { "id": "MONDO:0009401", "name": "1 alpha pyrroline-5-carboxylate dehydrogenase deficiency" }, { "id": "MONDO:0009401", "name": "HPII" }, { "id": "MONDO:0009401", "name": "HYRPRO2" }, { "id": "MONDO:0009401", "name": "hyperprolinemia, type II" }, { "id": "MONDO:0009401", "name": "type 2 hyperprolinemia" }, { "id": "MIM:239510", "name": "Hyperprolinemia 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080543", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080544", "disease_id": "DOID:0080544", "recommended_name": "hyper IgM syndrome", "synonyms": [ { "id": "DOID:0080544", "name": "immunodeficiency with hyper-IgM" }, { "id": "DOID:0080544", "name": "hyperimmunoglobulin M syndrome" }, { "id": "DOID:0080544", "name": "HIGM" }, { "id": "MONDO:0010626", "name": "hyper-IgM syndrome type 1" }, { "id": "MONDO:0010626", "name": "HIGM1" }, { "id": "MONDO:0010626", "name": "Hyper IgM Syndromes" }, { "id": "MONDO:0010626", "name": "X-linked hyper-IgM syndrome" }, { "id": "MONDO:0010626", "name": "XHIGM" }, { "id": "MONDO:0010626", "name": "hyper-IgM syndrome due to CD40 ligand deficiency" }, { "id": "MONDO:0010626", "name": "hyper-IgM syndrome due to CD40L deficiency" }, { "id": "MONDO:0010626", "name": "hyper-IgM syndrome type 1" }, { "id": "MONDO:0010626", "name": "hyper-IgM syndrome, X-linked" }, { "id": "MONDO:0010626", "name": "hyperimmunoglobulin M syndrome" }, { "id": "MONDO:0010626", "name": "immunodeficiency, X-linked, with hyper-IgM, X-linked recessive" }, { "id": "MONDO:0010626", "name": "HIGM" }, { "id": "MONDO:0010626", "name": "IHIS" }, { "id": "MONDO:0010626", "name": "X-linked hyper IgM syndrome" }, { "id": "MONDO:0010626", "name": "XHIM" }, { "id": "MONDO:0010626", "name": "hyper IgM immunodeficiency, X-linked" }, { "id": "MONDO:0010626", "name": "hyper IgM syndrome" }, { "id": "MONDO:0010626", "name": "hyper IgM syndrome 1" }, { "id": "MONDO:0010626", "name": "immunodeficiency with hyper IgM type 1" }, { "id": "MONDO:0010626", "name": "immunodeficiency with hyper-IgM, type 1" }, { "id": "MIM:308230", "name": "Immunodeficiency with hyper-IgM, type 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080544", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0080545", "disease_id": "DOID:0080545", "recommended_name": "hyper IgE syndrome", "synonyms": [ { "id": "DOID:0080545", "name": "hyper immunoglobulin E syndrome" }, { "id": "MONDO:0007818", "name": "hyper-IgE recurrent infection syndrome 1, autosomal dominant" }, { "id": "MONDO:0007818", "name": "hyper-IgE recurrent infection syndrome" }, { "id": "MONDO:0007818", "name": "hyperimmunoglobulin E-recurrent infection syndrome" }, { "id": "MONDO:0007818", "name": "AD hyperimmunoglobulin E syndrome" }, { "id": "MONDO:0007818", "name": "AD-HIES" }, { "id": "MONDO:0007818", "name": "Buckley syndrome" }, { "id": "MONDO:0007818", "name": "HIES autosomal dominant" }, { "id": "MONDO:0007818", "name": "HIES, autosomal dominant" }, { "id": "MONDO:0007818", "name": "JOB syndrome" }, { "id": "MONDO:0007818", "name": "Job syndrome autosomal dominant" }, { "id": "MONDO:0007818", "name": "Job's syndrome" }, { "id": "MONDO:0007818", "name": "STAT3 deficiency" }, { "id": "MONDO:0007818", "name": "autosomal dominant HIES" }, { "id": "MONDO:0007818", "name": "autosomal dominant hyper IgE syndrome" }, { "id": "MONDO:0007818", "name": "autosomal dominant hyper-IgE syndrome" }, { "id": "MONDO:0007818", "name": "autosomal dominant hyperimmunoglobulin E syndrome" }, { "id": "MONDO:0007818", "name": "hyper Ig E syndrome, autosomal dominant" }, { "id": "MONDO:0007818", "name": "hyper-IgE recurrent infection syndrome, autosomal dominant" }, { "id": "MONDO:0007818", "name": "hyper-IgE syndrome, autosomal dominant" }, { "id": "MONDO:0007818", "name": "hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant" }, { "id": "MONDO:0007818", "name": "hyperimmunoglobulin E syndrome type 1" }, { "id": "MONDO:0007818", "name": "immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist" }, { "id": "MIM:147060", "name": "Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections" } ], "record_url": "http://disease-ontology.org/term/DOID:0080545", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080547", "disease_id": "DOID:0080547", "recommended_name": "metabolic dysfunction-associated steatohepatitis", "synonyms": [ { "id": "DOID:0080547", "name": "non-alcoholic steatohepatitis" }, { "id": "DOID:0080547", "name": "NASH" }, { "id": "DOID:0080547", "name": "MASH" }, { "id": "DOID:0080547", "name": "nonalcoholic steatohepatitis" } ], "record_url": "http://disease-ontology.org/term/DOID:0080547", "snv_count": 0, "protein_count": 267, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 26.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080548", "disease_id": "DOID:0080548", "recommended_name": "Noonan syndrome with multiple lentigines 1", "synonyms": [ { "id": "DOID:0080548", "name": "LEOPARD syndrome 1" }, { "id": "MONDO:0100082", "name": "LEOPARD syndrome 1" }, { "id": "MONDO:0100082", "name": "LEOPARD syndrome 1" }, { "id": "MONDO:0100082", "name": "LEOPARD syndrome type 1" }, { "id": "MONDO:0100082", "name": "LPRD1" }, { "id": "MONDO:0100082", "name": "lentiginosis, cardiomyopathic" }, { "id": "MONDO:0100082", "name": "multiple lentigines syndrome" }, { "id": "MIM:151100", "name": "LEOPARD syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080548", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080549", "disease_id": "DOID:0080549", "recommended_name": "Noonan syndrome with multiple lentigines 2", "synonyms": [ { "id": "DOID:0080549", "name": "LEOPARD syndrome 2" }, { "id": "MONDO:0012691", "name": "LEOPARD syndrome 2" }, { "id": "MONDO:0012691", "name": "LEOPARD syndrome 2" }, { "id": "MONDO:0012691", "name": "Leopard syndrome type 2" }, { "id": "MONDO:0012691", "name": "leopard syndrome 2" }, { "id": "MONDO:0012691", "name": "LPRD2" }, { "id": "MIM:611554", "name": "LEOPARD syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080549", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080550", "disease_id": "DOID:0080550", "recommended_name": "Noonan syndrome with multiple lentigines 3", "synonyms": [ { "id": "DOID:0080550", "name": "LEOPARD syndrome 3" }, { "id": "MONDO:0013380", "name": "LEOPARD syndrome 3" }, { "id": "MONDO:0013380", "name": "BRAF Noonan syndrome with multiple lentigines" }, { "id": "MONDO:0013380", "name": "LEOPARD syndrome 3" }, { "id": "MONDO:0013380", "name": "Leopard syndrome type 3" }, { "id": "MONDO:0013380", "name": "Noonan syndrome with multiple lentigines caused by mutation in BRAF" }, { "id": "MONDO:0013380", "name": "leopard syndrome 3" }, { "id": "MONDO:0013380", "name": "LPRD3" }, { "id": "MIM:613707", "name": "LEOPARD syndrome 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080550", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080551", "disease_id": "DOID:0080551", "recommended_name": "Naxos disease", "synonyms": [ { "id": "MONDO:0011017", "name": "Naxos disease" }, { "id": "MONDO:0011017", "name": "KWWH type I" }, { "id": "MONDO:0011017", "name": "NAXOS disease" }, { "id": "MONDO:0011017", "name": "NXD" }, { "id": "MONDO:0011017", "name": "Naxos disease" }, { "id": "MONDO:0011017", "name": "keratoderma with woolly hair type I" }, { "id": "MONDO:0011017", "name": "keratoderma with wooly hair type I" }, { "id": "MONDO:0011017", "name": "keratosis palmoplantaris with arrythmogenic cardiomyopathy" }, { "id": "MONDO:0011017", "name": "palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy" }, { "id": "MONDO:0011017", "name": "palmoplantar keratoderma with arrythmogenic cardiomyopathy" }, { "id": "MONDO:0011017", "name": "keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair" }, { "id": "MONDO:0011017", "name": "keratosis palmoplantaris arrythmogenic cardiomyopathy wooly hair" }, { "id": "MONDO:0011017", "name": "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair" }, { "id": "MONDO:0011017", "name": "woolly hair palmoplantar keratoderma cardiac abnormalities" }, { "id": "MONDO:0011017", "name": "woolly hair, palmoplantar keratoderma, and Cardiac abnormalities" }, { "id": "MONDO:0011017", "name": "wooly hair palmoplantar keratoderma cardiac abnormalities" }, { "id": "MIM:601214", "name": "Naxos disease" } ], "record_url": "http://disease-ontology.org/term/DOID:0080551", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080552", "disease_id": "DOID:0080552", "recommended_name": "congenital disorder of glycosylation Ia", "synonyms": [ { "id": "DOID:0080552", "name": "PMM2-congenital disorder of glycosylation" }, { "id": "DOID:0080552", "name": "congenital disorder of glycosylation 1a" }, { "id": "MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation" }, { "id": "MONDO:0008907", "name": "CDG 1A" }, { "id": "MONDO:0008907", "name": "CDG syndrome type Ia" }, { "id": "MONDO:0008907", "name": "CDG-IA" }, { "id": "MONDO:0008907", "name": "CDG1A" }, { "id": "MONDO:0008907", "name": "PMM2-CDG" }, { "id": "MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation" }, { "id": "MONDO:0008907", "name": "carbohydrate deficient glycoprotein syndrome type Ia" }, { "id": "MONDO:0008907", "name": "congenital disorder of glycosylation type 1a" }, { "id": "MONDO:0008907", "name": "congenital disorder of glycosylation type Ia" }, { "id": "MONDO:0008907", "name": "phosphomannomutase 2 deficiency" }, { "id": "MONDO:0008907", "name": "PMM2-CDG (CDG-Ia)" }, { "id": "MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A" }, { "id": "MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)" }, { "id": "MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome, type Ia" }, { "id": "MONDO:0008907", "name": "congenital disorder of glycosylation, type Ia" }, { "id": "MIM:212065", "name": "Congenital disorder of glycosylation 1A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080552", "snv_count": 0, "protein_count": 26, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080553", "disease_id": "DOID:0080553", "recommended_name": "congenital disorder of glycosylation Iaa", "synonyms": [ { "id": "DOID:0080553", "name": "congenital disorder of glycosylation 1aa" }, { "id": "MONDO:0014904", "name": "congenital disorder of glycosylation, type IAA" }, { "id": "MONDO:0014904", "name": "CDG1AA" }, { "id": "MONDO:0014904", "name": "congenital disorder of glycosylation, type 1aa" }, { "id": "MONDO:0014904", "name": "congenital disorder of glycosylation, type IAA" }, { "id": "MONDO:0014904", "name": "congenital disorder of glycosylation, type IAA; CDG1AA" }, { "id": "MIM:617082", "name": "Congenital disorder of glycosylation 1AA" } ], "record_url": "http://disease-ontology.org/term/DOID:0080553", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080554", "disease_id": "DOID:0080554", "recommended_name": "congenital disorder of glycosylation Ib", "synonyms": [ { "id": "DOID:0080554", "name": "congenital disorder of glycosylation 1b" }, { "id": "MONDO:0011257", "name": "MPI-congenital disorder of glycosylation" }, { "id": "MONDO:0011257", "name": "CDG syndrome type IB" }, { "id": "MONDO:0011257", "name": "CDG-Ib" }, { "id": "MONDO:0011257", "name": "CDG1B" }, { "id": "MONDO:0011257", "name": "MPI-CDG" }, { "id": "MONDO:0011257", "name": "carbohydrate deficient glycoprotein syndrome type IB" }, { "id": "MONDO:0011257", "name": "congenital disorder of glycosylation type 1b" }, { "id": "MONDO:0011257", "name": "congenital disorder of glycosylation type IB" }, { "id": "MONDO:0011257", "name": "phosphomannose isomerase deficiency" }, { "id": "MONDO:0011257", "name": "CDG 1B" }, { "id": "MONDO:0011257", "name": "CDG gastrointestinal type" }, { "id": "MONDO:0011257", "name": "MPI-CDG (CDG-Ib)" }, { "id": "MONDO:0011257", "name": "SLSJ syndrome" }, { "id": "MONDO:0011257", "name": "Saguenay Lac Saint Jean syndrome" }, { "id": "MONDO:0011257", "name": "carbohydrate-deficient glycoprotein syndrome type 1B" }, { "id": "MONDO:0011257", "name": "congenital disorder of glycosylation, type IB" }, { "id": "MIM:602579", "name": "Congenital disorder of glycosylation 1B" } ], "record_url": "http://disease-ontology.org/term/DOID:0080554", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080555", "disease_id": "DOID:0080555", "recommended_name": "congenital disorder of glycosylation Ic", "synonyms": [ { "id": "DOID:0080555", "name": "congenital disorder of glycosylation 1c" }, { "id": "MONDO:0011291", "name": "ALG6-congenital disorder of glycosylation 1C" }, { "id": "MONDO:0011291", "name": "ALG6 congenital disorder of glycosylation" }, { "id": "MONDO:0011291", "name": "ALG6-CDG (CDG-Ic)" }, { "id": "MONDO:0011291", "name": "ALG6-CDG1C" }, { "id": "MONDO:0011291", "name": "ALG6-congenital disorder of glycosylation 1C" }, { "id": "MONDO:0011291", "name": "CDG syndrome type Ic" }, { "id": "MONDO:0011291", "name": "CDG-Ic" }, { "id": "MONDO:0011291", "name": "CDG1C" }, { "id": "MONDO:0011291", "name": "CDGIc" }, { "id": "MONDO:0011291", "name": "carbohydrate deficient glycoprotein syndrome type Ic" }, { "id": "MONDO:0011291", "name": "congenital disorder of glycosylation caused by mutation in ALG6" }, { "id": "MONDO:0011291", "name": "congenital disorder of glycosylation type 1C" }, { "id": "MONDO:0011291", "name": "congenital disorder of glycosylation type Ic" }, { "id": "MONDO:0011291", "name": "glucosyltransferase 1 deficiency" }, { "id": "MONDO:0011291", "name": "CDG 1C" }, { "id": "MONDO:0011291", "name": "CDGS5 (formerly)" }, { "id": "MONDO:0011291", "name": "carbohydrate-deficient glycoprotein syndrome type 1C" }, { "id": "MONDO:0011291", "name": "carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)" }, { "id": "MONDO:0011291", "name": "carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide" }, { "id": "MONDO:0011291", "name": "carbohydrate-deficient glycoprotein syndrome, type V (formerly)" }, { "id": "MONDO:0011291", "name": "congenital disorder of glycosylation, type Ic" }, { "id": "MIM:603147", "name": "Congenital disorder of glycosylation 1C" } ], "record_url": "http://disease-ontology.org/term/DOID:0080555", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080556", "disease_id": "DOID:0080556", "recommended_name": "congenital disorder of glycosylation Id", "synonyms": [ { "id": "DOID:0080556", "name": "congenital disorder of glycosylation 1d" }, { "id": "MONDO:0010998", "name": "ALG3-congenital disorder of glycosylation" }, { "id": "MONDO:0010998", "name": "ALG3-CDG" }, { "id": "MONDO:0010998", "name": "ALG3-congenital disorder of glycosylation" }, { "id": "MONDO:0010998", "name": "CDG syndrome type Id" }, { "id": "MONDO:0010998", "name": "CDG-Id" }, { "id": "MONDO:0010998", "name": "CDG1D" }, { "id": "MONDO:0010998", "name": "CDGId" }, { "id": "MONDO:0010998", "name": "carbohydrate deficient glycoprotein syndrome type Id" }, { "id": "MONDO:0010998", "name": "congenital disorder of glycosylation type 1d" }, { "id": "MONDO:0010998", "name": "congenital disorder of glycosylation type Id" }, { "id": "MONDO:0010998", "name": "mannosyltransferase 6 deficiency" }, { "id": "MONDO:0010998", "name": "ALG3-CDG (CDG-Id)" }, { "id": "MONDO:0010998", "name": "CDG 1D" }, { "id": "MONDO:0010998", "name": "CDGS4 (formerly)" }, { "id": "MONDO:0010998", "name": "carbohydrate-deficient glycoprotein syndrome type IV (formerly)" }, { "id": "MONDO:0010998", "name": "congenital disorder of glycosylation, type Id" }, { "id": "MIM:601110", "name": "Congenital disorder of glycosylation 1D" } ], "record_url": "http://disease-ontology.org/term/DOID:0080556", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080557", "disease_id": "DOID:0080557", "recommended_name": "congenital disorder of glycosylation Ie", "synonyms": [ { "id": "DOID:0080557", "name": "congenital disorder of glycosylation 1e" }, { "id": "MONDO:0012123", "name": "congenital disorder of glycosylation type 1E" }, { "id": "MONDO:0012123", "name": "CDG syndrome type Ie" }, { "id": "MONDO:0012123", "name": "CDG-Ie" }, { "id": "MONDO:0012123", "name": "CDG1E" }, { "id": "MONDO:0012123", "name": "CDGIe" }, { "id": "MONDO:0012123", "name": "DPM1 congenital disorder of glycosylation" }, { "id": "MONDO:0012123", "name": "Dol-P-mannosyltransferase deficiency" }, { "id": "MONDO:0012123", "name": "carbohydrate deficient glycoprotein syndrome type Ie" }, { "id": "MONDO:0012123", "name": "congenital disorder of glycosylation caused by mutation in DPM1" }, { "id": "MONDO:0012123", "name": "congenital disorder of glycosylation type 1E" }, { "id": "MONDO:0012123", "name": "congenital disorder of glycosylation type 1e" }, { "id": "MONDO:0012123", "name": "congenital disorder of glycosylation type Ie" }, { "id": "MONDO:0012123", "name": "CDG 1E" }, { "id": "MONDO:0012123", "name": "DPM1-CDG (CDG-Ie)" }, { "id": "MONDO:0012123", "name": "carbohydrate-deficient glycoprotein syndrome type 1E" }, { "id": "MONDO:0012123", "name": "congenital disorder of glycosylation, type Ie" }, { "id": "MIM:608799", "name": "Congenital disorder of glycosylation 1E" } ], "record_url": "http://disease-ontology.org/term/DOID:0080557", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080558", "disease_id": "DOID:0080558", "recommended_name": "congenital disorder of glycosylation If", "synonyms": [ { "id": "DOID:0080558", "name": "congenital disorder of glycosylation 1f" }, { "id": "MONDO:0012211", "name": "MPDU1-congenital disorder of glycosylation" }, { "id": "MONDO:0012211", "name": "CDG syndrome type If" }, { "id": "MONDO:0012211", "name": "CDG-If" }, { "id": "MONDO:0012211", "name": "CDG1F" }, { "id": "MONDO:0012211", "name": "CDGIf" }, { "id": "MONDO:0012211", "name": "MPDU1-CDG" }, { "id": "MONDO:0012211", "name": "carbohydrate deficient glycoprotein syndrome type If" }, { "id": "MONDO:0012211", "name": "congenital disorder of glycosylation type 1f" }, { "id": "MONDO:0012211", "name": "congenital disorder of glycosylation type If" }, { "id": "MONDO:0012211", "name": "CDG 1F" }, { "id": "MONDO:0012211", "name": "MPDU1-CDG (CDG-If)" }, { "id": "MONDO:0012211", "name": "carbohydrate-deficient glycoprotein syndrome type 1F" }, { "id": "MONDO:0012211", "name": "congenital disorder of glycosylation, type If" }, { "id": "MIM:609180", "name": "Congenital disorder of glycosylation 1F" } ], "record_url": "http://disease-ontology.org/term/DOID:0080558", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Mouse;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080559", "disease_id": "DOID:0080559", "recommended_name": "congenital disorder of glycosylation Ig", "synonyms": [ { "id": "DOID:0080559", "name": "ALG12-congenital disorder of glycosylation" }, { "id": "DOID:0080559", "name": "congenital disorder of glycosylation 1g" }, { "id": "MONDO:0011783", "name": "ALG12-congenital disorder of glycosylation" }, { "id": "MONDO:0011783", "name": "ALG12-CDG" }, { "id": "MONDO:0011783", "name": "ALG12-congenital disorder of glycosylation" }, { "id": "MONDO:0011783", "name": "CDG syndrome type Ig" }, { "id": "MONDO:0011783", "name": "CDG-Ig" }, { "id": "MONDO:0011783", "name": "CDG1G" }, { "id": "MONDO:0011783", "name": "CDGIg" }, { "id": "MONDO:0011783", "name": "carbohydrate deficient glycoprotein syndrome type Ig" }, { "id": "MONDO:0011783", "name": "congenital disorder of glycosylation type 1g" }, { "id": "MONDO:0011783", "name": "congenital disorder of glycosylation type Ig" }, { "id": "MONDO:0011783", "name": "mannosyltransferase 8 deficiency" }, { "id": "MONDO:0011783", "name": "ALG12-CDG (CDG-Ig)" }, { "id": "MONDO:0011783", "name": "CDG 1G" }, { "id": "MONDO:0011783", "name": "congenital disorder of glycosylation, type Ig" }, { "id": "MIM:607143", "name": "Congenital disorder of glycosylation 1G" } ], "record_url": "http://disease-ontology.org/term/DOID:0080559", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Mouse;Yeast;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001100010" }, { "record_id": "doid.0080560", "disease_id": "DOID:0080560", "recommended_name": "congenital disorder of glycosylation Ih", "synonyms": [ { "id": "DOID:0080560", "name": "congenital disorder of glycosylation 1h" }, { "id": "MONDO:0011969", "name": "ALG8-congenital disorder of glycosylation" }, { "id": "MONDO:0011969", "name": "ALG8-CDG" }, { "id": "MONDO:0011969", "name": "ALG8-congenital disorder of glycosylation" }, { "id": "MONDO:0011969", "name": "CDG syndrome type Ih" }, { "id": "MONDO:0011969", "name": "CDG-Ih" }, { "id": "MONDO:0011969", "name": "CDG1H" }, { "id": "MONDO:0011969", "name": "carbohydrate deficient glycoprotein syndrome type Ih" }, { "id": "MONDO:0011969", "name": "congenital disorder of glycosylation type 1h" }, { "id": "MONDO:0011969", "name": "congenital disorder of glycosylation type Ih" }, { "id": "MONDO:0011969", "name": "glucosyltransferase 2 deficiency" }, { "id": "MONDO:0011969", "name": "ALG8-CDG (CDG-Ih)" }, { "id": "MONDO:0011969", "name": "CDG 1H" }, { "id": "MONDO:0011969", "name": "congenital disorder of glycosylation, type Ih" }, { "id": "MIM:608104", "name": "Congenital disorder of glycosylation 1H" } ], "record_url": "http://disease-ontology.org/term/DOID:0080560", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080561", "disease_id": "DOID:0080561", "recommended_name": "congenital disorder of glycosylation Ii", "synonyms": [ { "id": "DOID:0080561", "name": "congenital disorder of glycosylation 1i" }, { "id": "MONDO:0011933", "name": "ALG2-congenital disorder of glycosylation" }, { "id": "MONDO:0011933", "name": "ALG2-CDG" }, { "id": "MONDO:0011933", "name": "ALG2-congenital disorder of glycosylation" }, { "id": "MONDO:0011933", "name": "CDG 1I" }, { "id": "MONDO:0011933", "name": "CDG Ii" }, { "id": "MONDO:0011933", "name": "CDG syndrome type Ii" }, { "id": "MONDO:0011933", "name": "CDG1I" }, { "id": "MONDO:0011933", "name": "carbohydrate deficient glycoprotein syndrome type Ii" }, { "id": "MONDO:0011933", "name": "congenital disorder of glycosylation type 1i" }, { "id": "MONDO:0011933", "name": "congenital disorder of glycosylation type Ii" }, { "id": "MONDO:0011933", "name": "congenital disorder of glycosylation, type Ii" }, { "id": "MONDO:0011933", "name": "mannosyltransferase 2 deficiency" }, { "id": "MONDO:0011933", "name": "ALG2-CDG (CDG-II)" }, { "id": "MONDO:0011933", "name": "carbohydrate-deficient glycoprotein syndrome type 1I" }, { "id": "MIM:607906", "name": "Congenital disorder of glycosylation 1I" } ], "record_url": "http://disease-ontology.org/term/DOID:0080561", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080562", "disease_id": "DOID:0080562", "recommended_name": "congenital disorder of glycosylation Ij", "synonyms": [ { "id": "DOID:0080562", "name": "Congenital disorder of glycosylation 1j" }, { "id": "MONDO:0011964", "name": "DPAGT1-congenital disorder of glycosylation" }, { "id": "MONDO:0011964", "name": "CDG syndrome type Ij" }, { "id": "MONDO:0011964", "name": "CDG-Ij" }, { "id": "MONDO:0011964", "name": "CDG1J" }, { "id": "MONDO:0011964", "name": "CDGIj" }, { "id": "MONDO:0011964", "name": "DPAGT1-CDG" }, { "id": "MONDO:0011964", "name": "DPAGT1-congenital disorder of glycosylation" }, { "id": "MONDO:0011964", "name": "carbohydrate deficient glycoprotein syndrome type Ij" }, { "id": "MONDO:0011964", "name": "congenital disorder of glycosylation type 1j" }, { "id": "MONDO:0011964", "name": "congenital disorder of glycosylation type Ij" }, { "id": "MONDO:0011964", "name": "dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency" }, { "id": "MONDO:0011964", "name": "CDG 1J" }, { "id": "MONDO:0011964", "name": "DPAGT1-CDG (CDG-Ij)" }, { "id": "MONDO:0011964", "name": "congenital disorder of glycosylation, type Ij" }, { "id": "MIM:608093", "name": "Congenital disorder of glycosylation 1J" } ], "record_url": "http://disease-ontology.org/term/DOID:0080562", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080563", "disease_id": "DOID:0080563", "recommended_name": "congenital disorder of glycosylation Ik", "synonyms": [ { "id": "DOID:0080563", "name": "congenital disorder of glycosylation 1k" }, { "id": "MONDO:0012052", "name": "ALG1-congenital disorder of glycosylation" }, { "id": "MONDO:0012052", "name": "ALG1-CDG" }, { "id": "MONDO:0012052", "name": "ALG1-congenital disorder of glycosylation" }, { "id": "MONDO:0012052", "name": "CDG syndrome type Ik" }, { "id": "MONDO:0012052", "name": "CDG-Ik" }, { "id": "MONDO:0012052", "name": "CDG1K" }, { "id": "MONDO:0012052", "name": "carbohydrate deficient glycoprotein syndrome type Ik" }, { "id": "MONDO:0012052", "name": "congenital disorder of glycosylation type 1k" }, { "id": "MONDO:0012052", "name": "congenital disorder of glycosylation type Ik" }, { "id": "MONDO:0012052", "name": "mannosyltransferase 1 deficiency" }, { "id": "MONDO:0012052", "name": "ALG1-CDG (CDG-Ik)" }, { "id": "MONDO:0012052", "name": "CDG 1K" }, { "id": "MONDO:0012052", "name": "congenital disorder of glycosylation, type Ik" }, { "id": "MIM:608540", "name": "Congenital disorder of glycosylation 1K" } ], "record_url": "http://disease-ontology.org/term/DOID:0080563", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080564", "disease_id": "DOID:0080564", "recommended_name": "congenital disorder of glycosylation Il", "synonyms": [ { "id": "DOID:0080564", "name": "congenital disorder of glycosylation 1l" }, { "id": "MONDO:0012117", "name": "ALG9-congenital disorder of glycosylation" }, { "id": "MONDO:0012117", "name": "ALG9-CDG" }, { "id": "MONDO:0012117", "name": "ALG9-congenital disorder of glycosylation" }, { "id": "MONDO:0012117", "name": "CDG syndrome type IL" }, { "id": "MONDO:0012117", "name": "CDG-IL" }, { "id": "MONDO:0012117", "name": "CDG1L" }, { "id": "MONDO:0012117", "name": "carbohydrate deficient glycoprotein syndrome type 1L" }, { "id": "MONDO:0012117", "name": "congenital disorder of glycosylation type 1L" }, { "id": "MONDO:0012117", "name": "mannosyltransferase 7-9 deficiency" }, { "id": "MONDO:0012117", "name": "ALG9-CDG (CDG-IL)" }, { "id": "MONDO:0012117", "name": "CDG 1L" }, { "id": "MONDO:0012117", "name": "carbohydrate deficient glycoprotein syndrome type IL" }, { "id": "MONDO:0012117", "name": "congenital disorder of glycosylation type IL" }, { "id": "MONDO:0012117", "name": "congenital disorder of glycosylation, type IL" }, { "id": "MIM:608776", "name": "Congenital disorder of glycosylation 1L" } ], "record_url": "http://disease-ontology.org/term/DOID:0080564", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080565", "disease_id": "DOID:0080565", "recommended_name": "congenital disorder of glycosylation Im", "synonyms": [ { "id": "DOID:0080565", "name": "DOLK-congenital disorder of glycosylation" }, { "id": "DOID:0080565", "name": "congenital disorder of glycosylation 1m" }, { "id": "DOID:0080565", "name": "dolichol kinase deficiency" }, { "id": "MONDO:0012556", "name": "DK1-congenital disorder of glycosylation" }, { "id": "MONDO:0012556", "name": "CDG syndrome type Im" }, { "id": "MONDO:0012556", "name": "CDG-Im" }, { "id": "MONDO:0012556", "name": "CDG1M" }, { "id": "MONDO:0012556", "name": "DK1-CDG" }, { "id": "MONDO:0012556", "name": "DK1-congenital disorder of glycosylation" }, { "id": "MONDO:0012556", "name": "carbohydrate deficient glycoprotein syndrome type Im" }, { "id": "MONDO:0012556", "name": "congenital disorder of glycosylation type 1m" }, { "id": "MONDO:0012556", "name": "congenital disorder of glycosylation type Im" }, { "id": "MONDO:0012556", "name": "dolichol kinase deficiency" }, { "id": "MONDO:0012556", "name": "hypotonia and ichthyosis due to dolichol phosphate deficiency" }, { "id": "MONDO:0012556", "name": "CDGIm" }, { "id": "MONDO:0012556", "name": "DOLK-CDG (CDG-Im)" }, { "id": "MONDO:0012556", "name": "congenital disorder of glycosylation, type Im" }, { "id": "MIM:610768", "name": "Congenital disorder of glycosylation 1M" } ], "record_url": "http://disease-ontology.org/term/DOID:0080565", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080566", "disease_id": "DOID:0080566", "recommended_name": "congenital disorder of glycosylation In", "synonyms": [ { "id": "DOID:0080566", "name": "congenital disorder of glycosylation 1n" }, { "id": "MONDO:0012783", "name": "RFT1-congenital disorder of glycosylation" }, { "id": "MONDO:0012783", "name": "CDG syndrome type In" }, { "id": "MONDO:0012783", "name": "CDG-In" }, { "id": "MONDO:0012783", "name": "CDG1N" }, { "id": "MONDO:0012783", "name": "Man5GlcNAc2-PP-Dol flippase deficiency" }, { "id": "MONDO:0012783", "name": "RFT1-CDG" }, { "id": "MONDO:0012783", "name": "RFT1-congenital disorder of glycosylation" }, { "id": "MONDO:0012783", "name": "carbohydrate deficient glycoprotein syndrome type In" }, { "id": "MONDO:0012783", "name": "congenital disorder of glycosylation type 1n" }, { "id": "MONDO:0012783", "name": "congenital disorder of glycosylation type In" }, { "id": "MONDO:0012783", "name": "CDGIN" }, { "id": "MONDO:0012783", "name": "RFT1-CDG (CDG-In)" }, { "id": "MONDO:0012783", "name": "congenital disorder of glycosylation, type In" }, { "id": "MIM:612015", "name": "Congenital disorder of glycosylation 1N" } ], "record_url": "http://disease-ontology.org/term/DOID:0080566", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080567", "disease_id": "DOID:0080567", "recommended_name": "congenital disorder of glycosylation Ip", "synonyms": [ { "id": "DOID:0080567", "name": "congenital disorder of glycosylation 1p" }, { "id": "MONDO:0013349", "name": "ALG11-congenital disorder of glycosylation" }, { "id": "MONDO:0013349", "name": "ALG11-CDG" }, { "id": "MONDO:0013349", "name": "ALG11-congenital disorder of glycosylation" }, { "id": "MONDO:0013349", "name": "CDG syndrome type Ip" }, { "id": "MONDO:0013349", "name": "CDG-Ip" }, { "id": "MONDO:0013349", "name": "CDG1P" }, { "id": "MONDO:0013349", "name": "carbohydrate deficient glycoprotein syndrome type Ip" }, { "id": "MONDO:0013349", "name": "congenital disorder of glycosylation type 1p" }, { "id": "MONDO:0013349", "name": "congenital disorder of glycosylation type Ip" }, { "id": "MONDO:0013349", "name": "ALG11-CDG (CDG-Ip)" }, { "id": "MONDO:0013349", "name": "congenital disorder of glycosylation, type Ip" }, { "id": "MIM:613661", "name": "Congenital disorder of glycosylation 1P" } ], "record_url": "http://disease-ontology.org/term/DOID:0080567", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080568", "disease_id": "DOID:0080568", "recommended_name": "congenital disorder of glycosylation Iq", "synonyms": [ { "id": "DOID:0080568", "name": "congenital disorder of glycosylation 1q" }, { "id": "MONDO:0012885", "name": "SRD5A3-congenital disorder of glycosylation" }, { "id": "MONDO:0012885", "name": "CDG syndrome type Iq" }, { "id": "MONDO:0012885", "name": "CDG-Iq" }, { "id": "MONDO:0012885", "name": "CDG1Q" }, { "id": "MONDO:0012885", "name": "SRD5A3-CDG" }, { "id": "MONDO:0012885", "name": "SRD5A3-congenital disorder of glycosylation" }, { "id": "MONDO:0012885", "name": "congenital disorder of glycosylation type 1q" }, { "id": "MONDO:0012885", "name": "congenital disorder of glycosylation type Iq" }, { "id": "MONDO:0012885", "name": "CDGIq" }, { "id": "MONDO:0012885", "name": "SRD5A3-CDG (CDG-Iq)" }, { "id": "MONDO:0012885", "name": "congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency" }, { "id": "MONDO:0012885", "name": "congenital disorder of glycosylation, type Iq" }, { "id": "MIM:612379", "name": "Congenital disorder of glycosylation 1Q" } ], "record_url": "http://disease-ontology.org/term/DOID:0080568", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080569", "disease_id": "DOID:0080569", "recommended_name": "congenital disorder of glycosylation Ir", "synonyms": [ { "id": "DOID:0080569", "name": "congenital disorder of glycosylation 1r" }, { "id": "MONDO:0013789", "name": "DDOST-congenital disorder of glycosylation" }, { "id": "MONDO:0013789", "name": "CDG syndrome type Ir" }, { "id": "MONDO:0013789", "name": "CDG-Ir" }, { "id": "MONDO:0013789", "name": "CDG1R" }, { "id": "MONDO:0013789", "name": "DDOST-CDG" }, { "id": "MONDO:0013789", "name": "DDOST-congenital disorder of glycosylation" }, { "id": "MONDO:0013789", "name": "carbohydrate deficient glycoprotein syndrome type Ir" }, { "id": "MONDO:0013789", "name": "congenital disorder of glycosylation type 1r" }, { "id": "MONDO:0013789", "name": "congenital disorder of glycosylation type Ir" }, { "id": "MONDO:0013789", "name": "DDOST-CDG (CDG-Ir)" }, { "id": "MONDO:0013789", "name": "carbohydrate deficient glycoprotein syndrome type" }, { "id": "MONDO:0013789", "name": "congenital disorder of glycosylation, type Ir" }, { "id": "MIM:614507", "name": "Congenital disorder of glycosylation 1R" } ], "record_url": "http://disease-ontology.org/term/DOID:0080569", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080570", "disease_id": "DOID:0080570", "recommended_name": "congenital disorder of glycosylation It", "synonyms": [ { "id": "DOID:0080570", "name": "congenital disorder of glycosylation 1t" }, { "id": "MONDO:0013968", "name": "PGM1-congenital disorder of glycosylation" }, { "id": "MONDO:0013968", "name": "CDG syndrome type It" }, { "id": "MONDO:0013968", "name": "CDG-It" }, { "id": "MONDO:0013968", "name": "CDG1T" }, { "id": "MONDO:0013968", "name": "PGM1-CDG" }, { "id": "MONDO:0013968", "name": "PGM1-congenital disorder of glycosylation" }, { "id": "MONDO:0013968", "name": "congenital disorder of glycosylation type 1t" }, { "id": "MONDO:0013968", "name": "congenital disorder of glycosylation type It" }, { "id": "MONDO:0013968", "name": "phosphoglucomutase-1 deficiency" }, { "id": "MONDO:0013968", "name": "GSD type 14" }, { "id": "MONDO:0013968", "name": "GSDXIV" }, { "id": "MONDO:0013968", "name": "congenital disorder of glycosylation, type It" }, { "id": "MONDO:0013968", "name": "glycogen storage disease due to phosphoglucomutase deficiency" }, { "id": "MONDO:0013968", "name": "phosphoglucomutase deficiency type 1" }, { "id": "MONDO:0013968", "name": "type 14 glycogenosis" }, { "id": "MIM:614921", "name": "Congenital disorder of glycosylation 1T" } ], "record_url": "http://disease-ontology.org/term/DOID:0080570", "snv_count": 0, "protein_count": 11, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.2, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080571", "disease_id": "DOID:0080571", "recommended_name": "congenital disorder of glycosylation Iu", "synonyms": [ { "id": "DOID:0080571", "name": "congenital disorder of glycosylation 1u" }, { "id": "MONDO:0014023", "name": "congenital muscular dystrophy with intellectual disability and severe epilepsy" }, { "id": "MONDO:0014023", "name": "CDG syndrome type Iu" }, { "id": "MONDO:0014023", "name": "CDG-Iu" }, { "id": "MONDO:0014023", "name": "CDG1U" }, { "id": "MONDO:0014023", "name": "CMD with intellectual disability and severe epilepsy" }, { "id": "MONDO:0014023", "name": "DPM2-CDG" }, { "id": "MONDO:0014023", "name": "carbohydrate deficient glycoprotein syndrome type Iu" }, { "id": "MONDO:0014023", "name": "congenital disorder of glycosylation type 1u" }, { "id": "MONDO:0014023", "name": "congenital disorder of glycosylation type Iu" }, { "id": "MONDO:0014023", "name": "congenital disorder of glycosylation, type Iu" }, { "id": "MIM:615042", "name": "Congenital disorder of glycosylation 1U" } ], "record_url": "http://disease-ontology.org/term/DOID:0080571", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080572", "disease_id": "DOID:0080572", "recommended_name": "congenital disorder of glycosylation Iw", "synonyms": [ { "id": "DOID:0080572", "name": "congenital disorder of glycosylation 1w" }, { "id": "MONDO:0014270", "name": "STT3A-congenital disorder of glycosylation" }, { "id": "MONDO:0014270", "name": "CDG syndrome type Iw" }, { "id": "MONDO:0014270", "name": "CDG-Iw" }, { "id": "MONDO:0014270", "name": "CDG1W" }, { "id": "MONDO:0014270", "name": "STT3A-CDG" }, { "id": "MONDO:0014270", "name": "STT3A-congenital disorder of glycosylation" }, { "id": "MONDO:0014270", "name": "congenital disorder of glycosylation type 1w" }, { "id": "MONDO:0014270", "name": "congenital disorder of glycosylation type Iw" }, { "id": "MONDO:0014270", "name": "congenital disorder of glycosylation, type Iw, autosomal recessive" }, { "id": "MONDO:0014270", "name": "congenital disorder of glycosylation, type Iw" }, { "id": "MIM:615596", "name": "Congenital disorder of glycosylation 1W, autosomal recessive" } ], "record_url": "http://disease-ontology.org/term/DOID:0080572", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080573", "disease_id": "DOID:0080573", "recommended_name": "congenital disorder of glycosylation Ix", "synonyms": [ { "id": "DOID:0080573", "name": "congenital disorder of glycosylation 1x" }, { "id": "MONDO:0014271", "name": "STT3B-congenital disorder of glycosylation" }, { "id": "MONDO:0014271", "name": "CDG syndrome type IX" }, { "id": "MONDO:0014271", "name": "CDG-Ix" }, { "id": "MONDO:0014271", "name": "CDG1X" }, { "id": "MONDO:0014271", "name": "STT3B-CDG" }, { "id": "MONDO:0014271", "name": "STT3B-congenital disorder of glycosylation" }, { "id": "MONDO:0014271", "name": "carbohydrate deficient glycoprotein syndrome type IX" }, { "id": "MONDO:0014271", "name": "congenital disorder of glycosylation type 1x" }, { "id": "MONDO:0014271", "name": "congenital disorder of glycosylation type IX" }, { "id": "MONDO:0014271", "name": "congenital disorder of glycosylation, type IX" }, { "id": "MIM:615597", "name": "Congenital disorder of glycosylation 1X" } ], "record_url": "http://disease-ontology.org/term/DOID:0080573", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080574", "disease_id": "DOID:0080574", "recommended_name": "congenital disorder of glycosylation Iy", "synonyms": [ { "id": "DOID:0080574", "name": "congenital disorder of glycosylation 1y" }, { "id": "MONDO:0010490", "name": "SSR4-congenital disorder of glycosylation" }, { "id": "MONDO:0010490", "name": "CDG syndrome type Iy" }, { "id": "MONDO:0010490", "name": "CDG-Iy" }, { "id": "MONDO:0010490", "name": "CDG1Y" }, { "id": "MONDO:0010490", "name": "SSR4-CDG" }, { "id": "MONDO:0010490", "name": "SSR4-congenital disorder of glycosylation" }, { "id": "MONDO:0010490", "name": "carbohydrate deficient glycoprotein syndrome type Iy" }, { "id": "MONDO:0010490", "name": "congenital disorder of glycosylation type 1y" }, { "id": "MONDO:0010490", "name": "congenital disorder of glycosylation type Iy" }, { "id": "MONDO:0010490", "name": "congenital disorder of glycosylation, type Iy, X-linked recessive" }, { "id": "MONDO:0010490", "name": "CDG Iy" }, { "id": "MONDO:0010490", "name": "CDGIy" }, { "id": "MONDO:0010490", "name": "congenital disorder of glycosylation, type Iy" }, { "id": "MIM:300934", "name": "Congenital disorder of glycosylation 1Y" } ], "record_url": "http://disease-ontology.org/term/DOID:0080574", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080575", "disease_id": "DOID:0080575", "recommended_name": "Larsen-like syndrome B3GAT3 type", "synonyms": [ { "id": "DOID:0080575", "name": "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" }, { "id": "DOID:0080575", "name": "Larsen-like syndrome, B3GAT3 type" }, { "id": "MONDO:0009511", "name": "Larsen-like syndrome, B3GAT3 type" }, { "id": "MONDO:0009511", "name": "multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects" }, { "id": "MONDO:0009511", "name": "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" }, { "id": "MONDO:0009511", "name": "JDSCD" }, { "id": "MONDO:0009511", "name": "Larsen syndrome, autosomal recessive" }, { "id": "MIM:245600", "name": "Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects" } ], "record_url": "http://disease-ontology.org/term/DOID:0080575", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080576", "disease_id": "DOID:0080576", "recommended_name": "spondyloepimetaphyseal dysplasia, Genevieve-type", "synonyms": [ { "id": "MONDO:0012495", "name": "spondyloepimetaphyseal dysplasia, Genevieve type" }, { "id": "MONDO:0012495", "name": "SEMD, Genevive type" }, { "id": "MONDO:0012495", "name": "SEMDG" }, { "id": "MONDO:0012495", "name": "spondyloepimetaphyseal dysplasia, Camera-Genevieve type" }, { "id": "MONDO:0012495", "name": "spondyloepimetaphyseal dysplasia, Genevieve type" }, { "id": "MONDO:0012495", "name": "SEMD Genevieve type" }, { "id": "MONDO:0012495", "name": "spondyloepimetaphyseal dysplasia Genevieve type" }, { "id": "MIM:610442", "name": "Spondyloepimetaphyseal dysplasia, Genevieve type" } ], "record_url": "http://disease-ontology.org/term/DOID:0080576", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080579", "disease_id": "DOID:0080579", "recommended_name": "3-methylcrotonyl-CoA carboxylase 1 deficiency", "synonyms": [ { "id": "MONDO:0008861", "name": "3-methylcrotonyl-CoA carboxylase 1 deficiency" }, { "id": "MONDO:0008861", "name": "3-Methylcrotonyl-Coa carboxylase 1 deficiency" }, { "id": "MONDO:0008861", "name": "3-methylcrotonyl-CoA carboxylase 1 deficiency" }, { "id": "MONDO:0008861", "name": "3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1" }, { "id": "MONDO:0008861", "name": "MCCC1 3-methylcrotonyl-CoA carboxylase deficiency" }, { "id": "MONDO:0008861", "name": "3 Alpha methylcrotonylglycinuria 1" }, { "id": "MONDO:0008861", "name": "3 Methylcrotonyl-CoA carboxylase 1 deficiency" }, { "id": "MONDO:0008861", "name": "3 Methylcrotonyl-CoA carboxylase deficiency" }, { "id": "MONDO:0008861", "name": "3 alpha methylcrotonylglycinuria 1" }, { "id": "MONDO:0008861", "name": "3 methylcrotonylglycinuria" }, { "id": "MONDO:0008861", "name": "3-MCC deficiency" }, { "id": "MONDO:0008861", "name": "3-Methylcrotonyl-Coa carboxylase deficiency" }, { "id": "MONDO:0008861", "name": "3-Methylcrotonyl-Coenzyme A carboxylase deficiency" }, { "id": "MONDO:0008861", "name": "3-methylcrotonylglycinuria" }, { "id": "MONDO:0008861", "name": "3-methylcrotonylglycinuria I" }, { "id": "MONDO:0008861", "name": "Bmcc deficiency" }, { "id": "MONDO:0008861", "name": "MCC 1 deficiency" }, { "id": "MONDO:0008861", "name": "MCC deficiency" }, { "id": "MONDO:0008861", "name": "MCC1 deficiency" }, { "id": "MONDO:0008861", "name": "MCC1D" }, { "id": "MONDO:0008861", "name": "MCCD type 1" }, { "id": "MONDO:0008861", "name": "Methylcrotonyl-Coa carboxylase deficiency" }, { "id": "MONDO:0008861", "name": "deficiency of methylcrotonoyl-Coa carboxylase" }, { "id": "MONDO:0008861", "name": "methylcrotonoyl-CoA carboxylase 1 deficiency" }, { "id": "MONDO:0008861", "name": "methylcrotonylglycinuria type I" }, { "id": "MIM:210200", "name": "3-methylcrotonoyl-CoA carboxylase 1 deficiency" } ], "record_url": "http://disease-ontology.org/term/DOID:0080579", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080580", "disease_id": "DOID:0080580", "recommended_name": "3-methylcrotonyl-CoA carboxylase 2 deficiency", "synonyms": [ { "id": "MONDO:0008862", "name": "3-methylcrotonyl-CoA carboxylase 2 deficiency" }, { "id": "MONDO:0008862", "name": "3-Methylcrotonyl-CoA carboxylase 2 deficiency" }, { "id": "MONDO:0008862", "name": "3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2" }, { "id": "MONDO:0008862", "name": "MCCC2 3-methylcrotonyl-CoA carboxylase deficiency" }, { "id": "MONDO:0008862", "name": "3 alpha methylcrotonyl-CoA carboxylase 2 deficiency" }, { "id": "MONDO:0008862", "name": "3 alpha methylcrotonylglycinuria 2" }, { "id": "MONDO:0008862", "name": "MCC 2 deficiency" }, { "id": "MONDO:0008862", "name": "MCC2D" }, { "id": "MONDO:0008862", "name": "methylcrotonylglycinuria type 2" }, { "id": "MIM:210210", "name": "3-methylcrotonoyl-CoA carboxylase 2 deficiency" } ], "record_url": "http://disease-ontology.org/term/DOID:0080580", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080581", "disease_id": "DOID:0080581", "recommended_name": "hyperekplexia 4", "synonyms": [ { "id": "MONDO:0044330", "name": "hyperekplexia 4" }, { "id": "MONDO:0044330", "name": "hyperekplexia 4" }, { "id": "MONDO:0044330", "name": "HKPX4" }, { "id": "MIM:618011", "name": "Hyperekplexia 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080581", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080582", "disease_id": "DOID:0080582", "recommended_name": "hypotrichosis 14", "synonyms": [ { "id": "MONDO:0032649", "name": "hypotrichosis 14" }, { "id": "MONDO:0032649", "name": "HYPT14" }, { "id": "MIM:618275", "name": "Hypotrichosis 14" } ], "record_url": "http://disease-ontology.org/term/DOID:0080582", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101010" }, { "record_id": "doid.0080584", "disease_id": "DOID:0080584", "recommended_name": "autosomal dominant Wolfram syndrome", "synonyms": [ { "id": "MONDO:0013673", "name": "Wolfram-like syndrome" }, { "id": "MONDO:0013673", "name": "Wolfram-like syndrome" }, { "id": "MONDO:0013673", "name": "WFSL" }, { "id": "MONDO:0013673", "name": "Wolfram-like syndrome, autosomal dominant" }, { "id": "MIM:614296", "name": "Wolfram-like syndrome autosomal dominant" } ], "record_url": "http://disease-ontology.org/term/DOID:0080584", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080585", "disease_id": "DOID:0080585", "recommended_name": "Van Maldergem syndrome 1", "synonyms": [ { "id": "MONDO:0011070", "name": "van Maldergem syndrome 1" }, { "id": "MONDO:0011070", "name": "DCHS1 van Maldergem syndrome" }, { "id": "MONDO:0011070", "name": "Van Maldergem syndrome type 1" }, { "id": "MONDO:0011070", "name": "van Maldergem syndrome 1" }, { "id": "MONDO:0011070", "name": "van Maldergem syndrome caused by mutation in DCHS1" }, { "id": "MONDO:0011070", "name": "VMLDS1" }, { "id": "MIM:601390", "name": "Van Maldergem syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080585", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080586", "disease_id": "DOID:0080586", "recommended_name": "Van Maldergem syndrome 2", "synonyms": [ { "id": "MONDO:0014242", "name": "van Maldergem syndrome 2" }, { "id": "MONDO:0014242", "name": "FAT4 van Maldergem syndrome" }, { "id": "MONDO:0014242", "name": "Van Maldergem syndrome type 2" }, { "id": "MONDO:0014242", "name": "van Maldergem syndrome 2" }, { "id": "MONDO:0014242", "name": "van Maldergem syndrome caused by mutation in FAT4" }, { "id": "MONDO:0014242", "name": "VMLDS2" }, { "id": "MIM:615546", "name": "Van Maldergem syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080586", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080587", "disease_id": "DOID:0080587", "recommended_name": "congenital myasthenic syndrome 22", "synonyms": [ { "id": "MONDO:0044299", "name": "myasthenic syndrome, congenital, 22" }, { "id": "MONDO:0044299", "name": "myasthenic syndrome, congenital, 22" }, { "id": "MONDO:0044299", "name": "CMS22" }, { "id": "MIM:616224", "name": "Myasthenic syndrome, congenital, 22" } ], "record_url": "http://disease-ontology.org/term/DOID:0080587", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080588", "disease_id": "DOID:0080588", "recommended_name": "agammaglobulinemia 5", "synonyms": [ { "id": "MONDO:0013290", "name": "agammaglobulinemia 5, autosomal dominant" }, { "id": "MONDO:0013290", "name": "LRRC8A autosomal agammaglobulinemia" }, { "id": "MONDO:0013290", "name": "agammaglobulinemia 5, autosomal dominant" }, { "id": "MONDO:0013290", "name": "autosomal agammaglobulinemia caused by mutation in LRRC8A" }, { "id": "MONDO:0013290", "name": "AGM5" }, { "id": "MIM:613506", "name": "Agammaglobulinemia 5, autosomal dominant" } ], "record_url": "http://disease-ontology.org/term/DOID:0080588", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080589", "disease_id": "DOID:0080589", "recommended_name": "Klippel-Feil syndrome 1", "synonyms": [ { "id": "MONDO:0007306", "name": "Klippel-Feil syndrome 1, autosomal dominant" }, { "id": "MONDO:0007306", "name": "Klippel-Feil Syndrome" }, { "id": "MONDO:0007306", "name": "GDF6 isolated Klippel-Feil syndrome" }, { "id": "MONDO:0007306", "name": "Klippel-Feil syndrome 1, autosomal dominant" }, { "id": "MONDO:0007306", "name": "isolated Klippel-Feil syndrome caused by mutation in GDF6" }, { "id": "MONDO:0007306", "name": "KFS1" }, { "id": "MIM:118100", "name": "Klippel-Feil syndrome 1, autosomal dominant" } ], "record_url": "http://disease-ontology.org/term/DOID:0080589", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080590", "disease_id": "DOID:0080590", "recommended_name": "Klippel-Feil syndrome 2", "synonyms": [ { "id": "MONDO:0008958", "name": "Klippel-Feil syndrome 2, autosomal recessive" }, { "id": "MONDO:0008958", "name": "Klippel-Feil syndrome 2, autosomal recessive" }, { "id": "MONDO:0008958", "name": "MEOX1 isolated Klippel-Feil syndrome" }, { "id": "MONDO:0008958", "name": "isolated Klippel-Feil syndrome caused by mutation in MEOX1" }, { "id": "MONDO:0008958", "name": "KFS2" }, { "id": "MIM:214300", "name": "Klippel-Feil syndrome 2, autosomal recessive" } ], "record_url": "http://disease-ontology.org/term/DOID:0080590", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080591", "disease_id": "DOID:0080591", "recommended_name": "Klippel-Feil syndrome 3", "synonyms": [ { "id": "MONDO:0013375", "name": "Klippel-Feil syndrome 3, autosomal dominant" }, { "id": "MONDO:0013375", "name": "GDF3 isolated Klippel-Feil syndrome" }, { "id": "MONDO:0013375", "name": "Klippel-Feil syndrome 3, autosomal dominant" }, { "id": "MONDO:0013375", "name": "isolated Klippel-Feil syndrome caused by mutation in GDF3" }, { "id": "MONDO:0013375", "name": "KFS3" }, { "id": "MIM:613702", "name": "Klippel-Feil syndrome 3, autosomal dominant" } ], "record_url": "http://disease-ontology.org/term/DOID:0080591", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080592", "disease_id": "DOID:0080592", "recommended_name": "Klippel-Feil syndrome 4", "synonyms": [ { "id": "MONDO:0014689", "name": "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome" }, { "id": "MONDO:0014689", "name": "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome" }, { "id": "MONDO:0014689", "name": "KFS4" }, { "id": "MONDO:0014689", "name": "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism" }, { "id": "MIM:616549", "name": "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism" } ], "record_url": "http://disease-ontology.org/term/DOID:0080592", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080593", "disease_id": "DOID:0080593", "recommended_name": "orofacial cleft 6", "synonyms": [ { "id": "MONDO:0012141", "name": "orofacial cleft 6, susceptibility to" }, { "id": "MONDO:0012141", "name": "IRF6 orofacial cleft" }, { "id": "MONDO:0012141", "name": "orofacial cleft 6, susceptibility to" }, { "id": "MONDO:0012141", "name": "orofacial cleft caused by mutation in IRF6" }, { "id": "MONDO:0012141", "name": "OFC6" }, { "id": "MIM:608864", "name": "Non-syndromic orofacial cleft 6" } ], "record_url": "http://disease-ontology.org/term/DOID:0080593", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080594", "disease_id": "DOID:0080594", "recommended_name": "hyper IgE recurrent infection syndrome 2", "synonyms": [ { "id": "DOID:0080594", "name": "autosomal recessive hyper-IgE syndrome 2 with recurrent infections" }, { "id": "MONDO:0009478", "name": "combined immunodeficiency due to DOCK8 deficiency" }, { "id": "MONDO:0009478", "name": "Cid due to DOCK8 deficiency" }, { "id": "MONDO:0009478", "name": "DOCK8 immunodeficiency syndrome" }, { "id": "MONDO:0009478", "name": "combined immunodeficiency due to DOCK8 deficiency" }, { "id": "MONDO:0009478", "name": "combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency" }, { "id": "MONDO:0009478", "name": "dedicator of cytokinesis 8 deficiency" }, { "id": "MONDO:0009478", "name": "AR hyperimmunoglobulin E syndrome" }, { "id": "MONDO:0009478", "name": "AR-HIES" }, { "id": "MONDO:0009478", "name": "DOCK8 deficiency" }, { "id": "MONDO:0009478", "name": "HIES autosomal recessive" }, { "id": "MONDO:0009478", "name": "autosomal recessive hyper IgE syndrome" }, { "id": "MONDO:0009478", "name": "hyper Ig E syndrome, autosomal recessive" }, { "id": "MONDO:0009478", "name": "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive" }, { "id": "MIM:243700", "name": "Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections" } ], "record_url": "http://disease-ontology.org/term/DOID:0080594", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080595", "disease_id": "DOID:0080595", "recommended_name": "autosomal recessive hyper-IgE syndrome 3 with recurrent infections", "synonyms": [ { "id": "DOID:0080595", "name": "hyper IgE recurrent infection syndrome 3" }, { "id": "MONDO:0032654", "name": "hyper-IgE recurrent infection syndrome 3, autosomal recessive" }, { "id": "MONDO:0032654", "name": "AR-HIES due to ZNF341 deficiency" }, { "id": "MONDO:0032654", "name": "Autosomal recessive HIES due to ZNF341 deficiency" }, { "id": "MONDO:0032654", "name": "Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency" }, { "id": "MONDO:0032654", "name": "HIES3" }, { "id": "MONDO:0032654", "name": "autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency" }, { "id": "MIM:618282", "name": "Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections" } ], "record_url": "http://disease-ontology.org/term/DOID:0080595", "snv_count": 0, "protein_count": 2, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.3, "record_type": "disease", "filter_code": "0000000.100.000000000001001000" }, { "record_id": "doid.0080596", "disease_id": "DOID:0080596", "recommended_name": "hyper IgE recurrent infection syndrome 4", "synonyms": [ { "id": "MONDO:0032796", "name": "hyper-IgE recurrent infection syndrome 4, autosomal recessive" }, { "id": "MONDO:0032796", "name": "hyper-IgE recurrent infection syndrome 4B, autosomal recessive" }, { "id": "MONDO:0032796", "name": "HIES4" }, { "id": "MIM:618523", "name": "Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections" } ], "record_url": "http://disease-ontology.org/term/DOID:0080596", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080597", "disease_id": "DOID:0080597", "recommended_name": "Kleefstra syndrome", "synonyms": [ { "id": "MONDO:0027407", "name": "Kleefstra syndrome 1" }, { "id": "MONDO:0027407", "name": "9q-syndrome" }, { "id": "MONDO:0027407", "name": "KLEFS1" }, { "id": "MONDO:0027407", "name": "Kleefstra syndrome" }, { "id": "MONDO:0027407", "name": "chromosome 9q34.3 deletion syndrome" }, { "id": "MONDO:0027407", "name": "Kleefstra syndrome 1" }, { "id": "MIM:610253", "name": "Kleefstra syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080597", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080598", "disease_id": "DOID:0080598", "recommended_name": "Kleefstra syndrome 2", "synonyms": [ { "id": "MONDO:0054701", "name": "Kleefstra syndrome 2" }, { "id": "MONDO:0054701", "name": "Kleefstra syndrome 2" }, { "id": "MONDO:0054701", "name": "KLEFS2" }, { "id": "MIM:617768", "name": "Kleefstra syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080598", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080599", "disease_id": "DOID:0080599", "recommended_name": "Coronavirus infectious disease", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080599", "snv_count": 0, "protein_count": 75, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 7.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080600", "disease_id": "DOID:0080600", "recommended_name": "COVID-19", "synonyms": [ { "id": "DOID:0080600", "name": "2019 Novel Coronavirus (2019-nCoV)" }, { "id": "DOID:0080600", "name": "2019-nCoV infection" }, { "id": "DOID:0080600", "name": "COVID19" }, { "id": "DOID:0080600", "name": "SARS-CoV-2 infection" }, { "id": "MONDO:0100096", "name": "COVID-19" }, { "id": "MONDO:0100096", "name": "2019 novel coronavirus infection" }, { "id": "MONDO:0100096", "name": "2019-nCoV infection" }, { "id": "MONDO:0100096", "name": "coronavirus disease 2019" }, { "id": "MONDO:0100096", "name": "severe acute respiratory syndrome coronavirus 2 infectious disease" }, { "id": "MONDO:0100096", "name": "2019 novel coronavirus" }, { "id": "MONDO:0100096", "name": "2019-nCoV" }, { "id": "MONDO:0100096", "name": "SARS-CoV-2" }, { "id": "MONDO:0100096", "name": "SARS-coronavirus 2" }, { "id": "MONDO:0100096", "name": "beta-CoV" }, { "id": "MONDO:0100096", "name": "beta-CoVs" }, { "id": "MONDO:0100096", "name": "betacoronavirus" }, { "id": "MONDO:0100096", "name": "severe acute respiratory syndrome coronavirus 2" }, { "id": "MONDO:0100096", "name": "-CoV" }, { "id": "MONDO:0100096", "name": "-CoVs" }, { "id": "MONDO:0100096", "name": "-coronavirus" } ], "record_url": "http://disease-ontology.org/term/DOID:0080600", "snv_count": 0, "protein_count": 488, "glycan_count": 0, "biomarker_count": 77, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human;SARS-CoV-2", "biomarker_type": "monitoring;prognostic;predictive;response;diagnostic;", "biomarker_id": "AN6373-1;BD0261-1;AN6290-5;AN6448-1;AN6309-1;AN6278-5;AN6320-1;AN6292-1;AN6294-2;AN6296-1;AN6297-1;AN6307-1;AN6310-1;AN6311-2;AN6312-1;AN6314-2;AN6315-2;AN6325-1;AN6326-1;AN6330-1;AN6331-1;AN6332-2;AN6333-1;AN6334-1;AN6337-2;AN6747-1;AN6344-1;AN6350-1;AN6351-1;AN6352-1;AN6353-1;AN6372-7;AN6375-1;AN6377-1;AN6379-1;AN6384-3;AN6751-1;BB1520-1;AN6401-1;AN6755-1;AN6400-1;AN6403-1;AN6406-1;AN6718-1;AN6757-1;AN6416-1;AN6418-1;AN6419-1;AN6423-1;AN6428-1;AN6429-1;AN6430-1;AN6431-3;AN6432-2;AN6437-2;AN6439-1;AN6440-1;AN6441-1;AN6442-1;AN6445-1;AN6449-1;AN6456-1;AN6457-1;AN6460-1;AN6465-1;AN6466-1;AN6469-1;AN6470-1;AN6471-1;AN6472-1;AN6473-1;AN6724-1;AN6725-1;BB3833-1;BB3834-1;BB3835-1;BB3836-1", "hit_score": 48.9, "record_type": "disease", "filter_code": "1111010.101.000000100001101111" }, { "record_id": "doid.0080603", "disease_id": "DOID:0080603", "recommended_name": "ankylosing spondylitis 1", "synonyms": [ { "id": "MONDO:0007126", "name": "spondyloarthropathy, susceptibility to, 1" }, { "id": "MONDO:0007126", "name": "HLA-B spondyloarthropathy, susceptibility to" }, { "id": "MONDO:0007126", "name": "spondyloarthropathy, susceptibility to caused by mutation in HLA-B" }, { "id": "MONDO:0007126", "name": "spondyloarthropathy, susceptibility to, 1" }, { "id": "MONDO:0007126", "name": "spondyloarthropathy, susceptibility to, type 1" }, { "id": "MONDO:0007126", "name": "SPDA1" }, { "id": "MIM:106300", "name": "Spondyloarthropathy 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080603", "snv_count": 0, "protein_count": 21, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.2, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080606", "disease_id": "DOID:0080606", "recommended_name": "anterior segment dysgenesis 1", "synonyms": [ { "id": "MONDO:0007138", "name": "anterior segment dysgenesis 1" }, { "id": "MONDO:0007138", "name": "anterior segment dysgenesis 1" }, { "id": "MONDO:0007138", "name": "anterior segment dysgenesis 1, multiple subtypes" }, { "id": "MONDO:0007138", "name": "ASGD1" }, { "id": "MONDO:0007138", "name": "ASMD" }, { "id": "MONDO:0007138", "name": "anterior segment mesenchymal dysgenesis" }, { "id": "MIM:107250", "name": "Anterior segment dysgenesis 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080606", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080607", "disease_id": "DOID:0080607", "recommended_name": "anterior segment dysgenesis 2", "synonyms": [ { "id": "MONDO:0012456", "name": "congenital primary aphakia" }, { "id": "MONDO:0012456", "name": "anterior segment dysgenesis 2, multiple subtypes" }, { "id": "MONDO:0012456", "name": "aphakia, congenital primary" }, { "id": "MONDO:0012456", "name": "congenital absence of lens" }, { "id": "MONDO:0012456", "name": "congenital aphakia" }, { "id": "MONDO:0012456", "name": "ASGD2" }, { "id": "MONDO:0012456", "name": "CPA" }, { "id": "MIM:610256", "name": "Anterior segment dysgenesis 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080607", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101010" }, { "record_id": "doid.0080608", "disease_id": "DOID:0080608", "recommended_name": "anterior segment dysgenesis 3", "synonyms": [ { "id": "MONDO:0024456", "name": "anterior segment dysgenesis 3" }, { "id": "MONDO:0024456", "name": "ASGD3" }, { "id": "MONDO:0024456", "name": "FOXC1 iridogoniodysgenesis" }, { "id": "MONDO:0024456", "name": "IGDA" }, { "id": "MONDO:0024456", "name": "IGDA syndrome" }, { "id": "MONDO:0024456", "name": "IRID1" }, { "id": "MONDO:0024456", "name": "anterior segment dysgenesis 3" }, { "id": "MONDO:0024456", "name": "anterior segment dysgenesis 3, multiple subtypes" }, { "id": "MONDO:0024456", "name": "iridogoniodysgenesis anomaly, autosomal dominant" }, { "id": "MONDO:0024456", "name": "iridogoniodysgenesis caused by mutation in FOXC1" }, { "id": "MONDO:0024456", "name": "iridogoniodysgenesis type 1" }, { "id": "MONDO:0024456", "name": "iridogoniodysgenesis, type 1" }, { "id": "MONDO:0024456", "name": "glaucoma iridogoniodysgenesia" }, { "id": "MONDO:0024456", "name": "glaucoma iridogoniodysplasia, familial" }, { "id": "MONDO:0024456", "name": "iris hypoplasia with glaucoma" }, { "id": "MIM:601631", "name": "Anterior segment dysgenesis 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080608", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080609", "disease_id": "DOID:0080609", "recommended_name": "anterior segment dysgenesis 4", "synonyms": [ { "id": "MONDO:0007662", "name": "anterior segment dysgenesis 4" }, { "id": "MONDO:0007662", "name": "iridogoniodysgenesis syndrome" }, { "id": "MONDO:0007662", "name": "IRID2" }, { "id": "MONDO:0007662", "name": "PITX2 iridogoniodysgenesis" }, { "id": "MONDO:0007662", "name": "anterior segment dysgenesis 4" }, { "id": "MONDO:0007662", "name": "iridogoniodysgenesis caused by mutation in PITX2" }, { "id": "MONDO:0007662", "name": "iridogoniodysgenesis, type 2" }, { "id": "MONDO:0007662", "name": "ASGD4" }, { "id": "MONDO:0007662", "name": "iridogoniodysgenesis type 2" }, { "id": "MIM:137600", "name": "Anterior segment dysgenesis 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080609", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080610", "disease_id": "DOID:0080610", "recommended_name": "anterior segment dysgenesis 5", "synonyms": [ { "id": "MONDO:0011414", "name": "Peters anomaly" }, { "id": "MONDO:0011414", "name": "Peters anomaly" }, { "id": "MONDO:0011414", "name": "Peters anomaly (disease)" }, { "id": "MONDO:0011414", "name": "Peters congenital glaucoma" }, { "id": "MONDO:0011414", "name": "anterior segment dysgenesis 5, multiple subtypes" }, { "id": "MONDO:0011414", "name": "ASGD5" }, { "id": "MIM:604229", "name": "Anterior segment dysgenesis 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0080610", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080611", "disease_id": "DOID:0080611", "recommended_name": "anterior segment dysgenesis 6", "synonyms": [ { "id": "MONDO:0015016", "name": "anterior segment dysgenesis 6" }, { "id": "MONDO:0015016", "name": "ASGD6" }, { "id": "MONDO:0015016", "name": "anterior segment dysgenesis 6" }, { "id": "MONDO:0015016", "name": "anterior segment dysgenesis 6, multiple subtypes" }, { "id": "MONDO:0015016", "name": "anterior segment dysgenesis type 6" }, { "id": "MIM:617315", "name": "Anterior segment dysgenesis 6" } ], "record_url": "http://disease-ontology.org/term/DOID:0080611", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080612", "disease_id": "DOID:0080612", "recommended_name": "anterior segment dysgenesis 7", "synonyms": [ { "id": "MONDO:0010015", "name": "anterior segment dysgenesis 7" }, { "id": "MONDO:0010015", "name": "CCMCO" }, { "id": "MONDO:0010015", "name": "PXDN anterior segment dysgenesis" }, { "id": "MONDO:0010015", "name": "PXDN-related ocular dysgenesis" }, { "id": "MONDO:0010015", "name": "anterior segment dysgenesis 7" }, { "id": "MONDO:0010015", "name": "anterior segment dysgenesis 7, with sclerocornea" }, { "id": "MONDO:0010015", "name": "anterior segment dysgenesis caused by mutation in PXDN" }, { "id": "MONDO:0010015", "name": "sclerocornea with other ocular anomalies" }, { "id": "MONDO:0010015", "name": "ASGD7" }, { "id": "MONDO:0010015", "name": "COPOA" }, { "id": "MONDO:0010015", "name": "corneal opacification with other ocular anomalies" }, { "id": "MIM:269400", "name": "Anterior segment dysgenesis 7" } ], "record_url": "http://disease-ontology.org/term/DOID:0080612", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080613", "disease_id": "DOID:0080613", "recommended_name": "anterior segment dysgenesis 8", "synonyms": [ { "id": "MONDO:0015017", "name": "anterior segment dysgenesis 8" }, { "id": "MONDO:0015017", "name": "ASGD8" }, { "id": "MONDO:0015017", "name": "CPAMD8 anterior segment dysgenesis" }, { "id": "MONDO:0015017", "name": "CPAMD8-related anterior segment dysgenesis" }, { "id": "MONDO:0015017", "name": "anterior segment dysgenesis 8" }, { "id": "MONDO:0015017", "name": "anterior segment dysgenesis caused by mutation in CPAMD8" }, { "id": "MONDO:0015017", "name": "anterior segment dysgenesis type 8" }, { "id": "MIM:617319", "name": "Anterior segment dysgenesis 8" } ], "record_url": "http://disease-ontology.org/term/DOID:0080613", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001001001" }, { "record_id": "doid.0080614", "disease_id": "DOID:0080614", "recommended_name": "oculocutaneous albinism type VI", "synonyms": [ { "id": "MONDO:0018264", "name": "oculocutaneous albinism type 6" }, { "id": "MONDO:0018264", "name": "OCA6" }, { "id": "MIM:113750", "name": "Albinism, oculocutaneous, 6" } ], "record_url": "http://disease-ontology.org/term/DOID:0080614", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080615", "disease_id": "DOID:0080615", "recommended_name": "nephroma", "synonyms": [ { "id": "DOID:0080615", "name": "benign nephroma" } ], "record_url": "http://disease-ontology.org/term/DOID:0080615", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080620", "disease_id": "DOID:0080620", "recommended_name": "familial glucocorticoid deficiency", "synonyms": [ { "id": "MONDO:0024536", "name": "glucocorticoid deficiency 1" }, { "id": "MONDO:0024536", "name": "MC2R familial glucocorticoid deficiency" }, { "id": "MONDO:0024536", "name": "familial glucocorticoid deficiency caused by mutation in MC2R" }, { "id": "MONDO:0024536", "name": "glucocorticoid deficiency 1" }, { "id": "MONDO:0024536", "name": "glucocorticoid deficiency, due to ACTH unresponsiveness" }, { "id": "MONDO:0024536", "name": "GCCD1" }, { "id": "MIM:202200", "name": "Glucocorticoid deficiency 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080620", "snv_count": 0, "protein_count": 12, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.3, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080621", "disease_id": "DOID:0080621", "recommended_name": "glucocorticoid deficiency 1", "synonyms": [ { "id": "MONDO:0024536", "name": "glucocorticoid deficiency 1" }, { "id": "MONDO:0024536", "name": "MC2R familial glucocorticoid deficiency" }, { "id": "MONDO:0024536", "name": "familial glucocorticoid deficiency caused by mutation in MC2R" }, { "id": "MONDO:0024536", "name": "glucocorticoid deficiency 1" }, { "id": "MONDO:0024536", "name": "glucocorticoid deficiency, due to ACTH unresponsiveness" }, { "id": "MONDO:0024536", "name": "GCCD1" }, { "id": "MIM:202200", "name": "Glucocorticoid deficiency 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080621", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080622", "disease_id": "DOID:0080622", "recommended_name": "peroxisome biogenesis disorder 2B", "synonyms": [ { "id": "MONDO:0008736", "name": "peroxisome biogenesis disorder 2B" }, { "id": "MONDO:0008736", "name": "peroxisome biogenesis disorder 2B" }, { "id": "MONDO:0008736", "name": "peroxisome biogenesis disorder type 2B" }, { "id": "MONDO:0008736", "name": "PBD2B" }, { "id": "MIM:202370", "name": "Peroxisome biogenesis disorder 2B" } ], "record_url": "http://disease-ontology.org/term/DOID:0080622", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080623", "disease_id": "DOID:0080623", "recommended_name": "Heimler syndrome 1", "synonyms": [ { "id": "DOID:0080623", "name": "peroxisomal biogenesis disorder 1C" }, { "id": "MONDO:0100259", "name": "peroxisome biogenesis disorder due to PEX1 defect" }, { "id": "MONDO:0100259", "name": "PEX1 related Zellweger spectrum disorder" }, { "id": "MONDO:0100259", "name": "peroxisome biogenesis disorder due to PEX1 defect" }, { "id": "MIM:234580", "name": "Heimler syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080623", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080624", "disease_id": "DOID:0080624", "recommended_name": "Heimler syndrome 2", "synonyms": [ { "id": "DOID:0080624", "name": "peroxisomal biogenesis disorder 4C" }, { "id": "MONDO:0100263", "name": "peroxisome biogenesis disorder due to PEX6 defect" }, { "id": "MONDO:0100263", "name": "PEX6 related Zellweger spectrum disorder" }, { "id": "MONDO:0100263", "name": "peroxisome biogenesis disorder due to PEX6 defect" }, { "id": "MIM:616617", "name": "Heimler syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080624", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080625", "disease_id": "DOID:0080625", "recommended_name": "severe congenital neutropenia 1", "synonyms": [ { "id": "MONDO:0042490", "name": "neutropenia, severe congenital, 1, autosomal dominant" }, { "id": "MONDO:0042490", "name": "neutropenia, severe congenital 1, autosomal dominant" }, { "id": "MONDO:0042490", "name": "neutropenia, severe congenital, 1, autosomal dominant" }, { "id": "MONDO:0042490", "name": "SCN1" }, { "id": "MIM:202700", "name": "Neutropenia, severe congenital 1, autosomal dominant" } ], "record_url": "http://disease-ontology.org/term/DOID:0080625", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080626", "disease_id": "DOID:0080626", "recommended_name": "corticosterone methyloxidase deficiency 1", "synonyms": [ { "id": "DOID:0080626", "name": "aldosterone synthase deficiency" }, { "id": "MONDO:0008751", "name": "corticosterone methyloxidase type 1 deficiency" }, { "id": "MONDO:0008751", "name": "corticosterone 18-monooxygenase deficiency" }, { "id": "MONDO:0008751", "name": "corticosterone methyloxidase type 1 deficiency" }, { "id": "MONDO:0008751", "name": "hypoaldosteronism, congenital, due to cmo i deficiency" }, { "id": "MONDO:0008751", "name": "18 Hydroxylase deficiency" }, { "id": "MONDO:0008751", "name": "18 alpha hydroxylase deficiency" }, { "id": "MONDO:0008751", "name": "CMO 1 deficiency" }, { "id": "MONDO:0008751", "name": "aldosterone deficiency 1" }, { "id": "MONDO:0008751", "name": "aldosterone deficiency due to defect in 18 hydroxylase" }, { "id": "MIM:203400", "name": "Corticosterone methyloxidase 1 deficiency" } ], "record_url": "http://disease-ontology.org/term/DOID:0080626", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080627", "disease_id": "DOID:0080627", "recommended_name": "alopecia-mental retardation syndrome", "synonyms": [ { "id": "MONDO:0021035", "name": "alopecia-intellectual disability syndrome 1" }, { "id": "MONDO:0021035", "name": "APMR" }, { "id": "MONDO:0021035", "name": "APMR1" }, { "id": "MONDO:0021035", "name": "alopecia-intellectual disability syndrome 1" }, { "id": "MONDO:0021035", "name": "alopecia-mental retardation syndrome 1" }, { "id": "MIM:203650", "name": "Alopecia-intellectual disability syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080627", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0080628", "disease_id": "DOID:0080628", "recommended_name": "alopecia-mental retardation syndrome 1", "synonyms": [ { "id": "MONDO:0021035", "name": "alopecia-intellectual disability syndrome 1" }, { "id": "MONDO:0021035", "name": "APMR" }, { "id": "MONDO:0021035", "name": "APMR1" }, { "id": "MONDO:0021035", "name": "alopecia-intellectual disability syndrome 1" }, { "id": "MONDO:0021035", "name": "alopecia-mental retardation syndrome 1" }, { "id": "MIM:203650", "name": "Alopecia-intellectual disability syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080628", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080630", "disease_id": "DOID:0080630", "recommended_name": "B-lymphoblastic leukemia/lymphoma", "synonyms": [ { "id": "DOID:0080630", "name": "B lymphoblastic leukemia/lymphoma" }, { "id": "DOID:0080630", "name": "B-ALL" }, { "id": "DOID:0080630", "name": "precursor B lymphoblastic lymphoma/leukemia" } ], "record_url": "http://disease-ontology.org/term/DOID:0080630", "snv_count": 0, "protein_count": 112, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 11.3, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080631", "disease_id": "DOID:0080631", "recommended_name": "Elsahy-Waters syndrome", "synonyms": [ { "id": "DOID:0080631", "name": "branchioskeletogenital syndrome" }, { "id": "MONDO:0008885", "name": "Elsahy-Waters syndrome" }, { "id": "MONDO:0008885", "name": "BSG syndrome" }, { "id": "MONDO:0008885", "name": "ELSAHY-Waters syndrome" }, { "id": "MONDO:0008885", "name": "ESWS" }, { "id": "MONDO:0008885", "name": "Elsahy-Waters syndrome" }, { "id": "MONDO:0008885", "name": "brachioskeletogenital syndrome" }, { "id": "MONDO:0008885", "name": "hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss" }, { "id": "MONDO:0008885", "name": "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss" }, { "id": "MONDO:0008885", "name": "hypospadias-hypertelorism-coloboma and deafness syndrome" }, { "id": "MONDO:0008885", "name": "branchio-skeleto-genital syndrome" }, { "id": "MONDO:0008885", "name": "Elsahy-Waters syndrome" }, { "id": "MONDO:0008885", "name": "BSG syndrome" }, { "id": "MONDO:0008885", "name": "ELSAHY-Waters syndrome" }, { "id": "MONDO:0008885", "name": "ESWS" }, { "id": "MONDO:0008885", "name": "Elsahy-Waters syndrome" }, { "id": "MONDO:0008885", "name": "brachioskeletogenital syndrome" }, { "id": "MONDO:0008885", "name": "hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss" }, { "id": "MONDO:0008885", "name": "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss" }, { "id": "MONDO:0008885", "name": "hypospadias-hypertelorism-coloboma and deafness syndrome" }, { "id": "MONDO:0008885", "name": "branchio-skeleto-genital syndrome" }, { "id": "MIM:211380", "name": "Elsahy-Waters syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080631", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080632", "disease_id": "DOID:0080632", "recommended_name": "Fazio-Londe disease", "synonyms": [ { "id": "DOID:0080632", "name": "riboflavin transporter deficiency neuronopathy" }, { "id": "MONDO:0100428", "name": "progressive bulbar palsy of childhood" }, { "id": "MONDO:0100428", "name": "Fazio-Londe disease" }, { "id": "MIM:211500", "name": "Fazio-Londe disease" } ], "record_url": "http://disease-ontology.org/term/DOID:0080632", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080633", "disease_id": "DOID:0080633", "recommended_name": "developmental cardiac valvular defect", "synonyms": [ { "id": "MONDO:0008913", "name": "cardiac valvular defect, developmental" }, { "id": "MONDO:0008913", "name": "cardiac valvular defect, developmental" }, { "id": "MONDO:0008913", "name": "CVDD" }, { "id": "MIM:212093", "name": "Cardiac valvular dysplasia 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080633", "snv_count": 0, "protein_count": 20, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080634", "disease_id": "DOID:0080634", "recommended_name": "nanophthalmos", "synonyms": [ { "id": "MONDO:0010836", "name": "nanophthalmos 1" }, { "id": "MONDO:0010836", "name": "NNO1" }, { "id": "MONDO:0010836", "name": "nanophthalmos 1" }, { "id": "MONDO:0010836", "name": "nanophthalmos-1" }, { "id": "MONDO:0012299", "name": "nanophthalmos 2" }, { "id": "MONDO:0012299", "name": "MFRP nanophthalmia" }, { "id": "MONDO:0012299", "name": "nanophthalmia caused by mutation in MFRP" }, { "id": "MONDO:0012299", "name": "nanophthalmos 2" }, { "id": "MONDO:0012299", "name": "nanophthalmos type 2" }, { "id": "MONDO:0012299", "name": "NNO2" }, { "id": "MONDO:0012754", "name": "nanophthalmos 3" }, { "id": "MONDO:0012754", "name": "NNO3" }, { "id": "MONDO:0012754", "name": "nanophthalmos 3" }, { "id": "MONDO:0014426", "name": "nanophthalmos 4" }, { "id": "MONDO:0014426", "name": "TMEM98 nanophthalmia" }, { "id": "MONDO:0014426", "name": "nanophthalmia caused by mutation in TMEM98" }, { "id": "MONDO:0014426", "name": "nanophthalmos 4" }, { "id": "MONDO:0014426", "name": "nanophthalmos type 4" }, { "id": "MONDO:0014426", "name": "NNO4" }, { "id": "MIM:600165", "name": "Nanophthalmos 1" }, { "id": "MIM:609549", "name": "Nanophthalmos 2" }, { "id": "MIM:615972", "name": "Nanophthalmos 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080634", "snv_count": 0, "protein_count": 16, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080635", "disease_id": "DOID:0080635", "recommended_name": "optic disc anomalies with retinal and/or macular dystrophy", "synonyms": [ { "id": "MONDO:0008927", "name": "colobomatous optic disc-macular atrophy-chorioretinopathy syndrome" }, { "id": "MONDO:0008927", "name": "ODRMD" }, { "id": "MONDO:0008927", "name": "optic DISC anomalies with retinal and/or macular dystrophy" }, { "id": "MIM:212550", "name": "Optic disk anomalies with retinal and/or macular dystrophy" } ], "record_url": "http://disease-ontology.org/term/DOID:0080635", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080636", "disease_id": "DOID:0080636", "recommended_name": "syndromic microphthalmia", "synonyms": [ { "id": "MONDO:0010671", "name": "microphthalmia, syndromic 1" }, { "id": "MONDO:0010671", "name": "ANOP1, formerly" }, { "id": "MONDO:0010671", "name": "Lenz dysplasia" }, { "id": "MONDO:0010671", "name": "Lenz microphthalmia syndrome" }, { "id": "MONDO:0010671", "name": "MAA, formerly" }, { "id": "MONDO:0010671", "name": "MCOPS1" }, { "id": "MONDO:0010671", "name": "MCOPS4" }, { "id": "MONDO:0010671", "name": "MCOPS4, formerly" }, { "id": "MONDO:0010671", "name": "microphthalmia syndromic 4" }, { "id": "MONDO:0010671", "name": "microphthalmia with ankyloblepharon and intellectual disability" }, { "id": "MONDO:0010671", "name": "microphthalmia with ankyloblepharon and mental retardation" }, { "id": "MONDO:0010671", "name": "microphthalmia, syndromic 1" }, { "id": "MONDO:0010671", "name": "microphthalmia, syndromic 4, formerly" }, { "id": "MONDO:0010671", "name": "microphthalmia, syndromic type 1" }, { "id": "MONDO:0010671", "name": "syndromic microphthalmia type 4" }, { "id": "MIM:309800", "name": "Microphthalmia, syndromic, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080636", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0080641", "disease_id": "DOID:0080641", "recommended_name": "tongue carcinoma", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080641", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080642", "disease_id": "DOID:0080642", "recommended_name": "Middle East respiratory syndrome", "synonyms": [ { "id": "DOID:0080642", "name": "MERS" } ], "record_url": "http://disease-ontology.org/term/DOID:0080642", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080652", "disease_id": "DOID:0080652", "recommended_name": "calcium oxalate nephrolithiasis", "synonyms": [ { "id": "MONDO:0020722", "name": "nephrolithiasis susceptibility caused by SLC26A1" }, { "id": "MONDO:0020722", "name": "CAON" }, { "id": "MIM:167030", "name": "Nephrolithiasis, calcium oxalate, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080652", "snv_count": 0, "protein_count": 40, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 4.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080653", "disease_id": "DOID:0080653", "recommended_name": "urolithiasis", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080653", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080655", "disease_id": "DOID:0080655", "recommended_name": "hypophosphatemic nephrolithiasis/osteoporosis", "synonyms": [ { "id": "MONDO:0012850", "name": "hypophosphatemic nephrolithiasis/osteoporosis 1" }, { "id": "MONDO:0012850", "name": "hypophosphatemic nephrolithiasis/osteoporosis type 1" }, { "id": "MONDO:0012850", "name": "nephrolithiasis/osteoporosis, hypophosphatemic, type 1" }, { "id": "MONDO:0012850", "name": "NPHLOP1" }, { "id": "MONDO:0012850", "name": "nephrolithiasis/osteoporosis, hypophosphatemic, 1" }, { "id": "MIM:612286", "name": "Nephrolithiasis/osteoporosis, hypophosphatemic, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080655", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0080661", "disease_id": "DOID:0080661", "recommended_name": "nonsyndromic aplasia cutis congenita", "synonyms": [ { "id": "MONDO:0007145", "name": "aplasia cutis congenita" }, { "id": "MONDO:0007145", "name": "aplasia cutis congenita" }, { "id": "MONDO:0007145", "name": "aplasia cutis congenita (disease)" }, { "id": "MONDO:0007145", "name": "aplasia cutis congenita recessive" }, { "id": "MONDO:0007145", "name": "ACC" }, { "id": "MONDO:0007145", "name": "aplasia cutis congenita nonsyndromic" }, { "id": "MONDO:0007145", "name": "aplasia cutis congenita, nonsyndromic" }, { "id": "MONDO:0007145", "name": "scalp defect congenital" }, { "id": "MIM:107600", "name": "Aplasia cutis congenita, non-syndromic" } ], "record_url": "http://disease-ontology.org/term/DOID:0080661", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001001011" }, { "record_id": "doid.0080662", "disease_id": "DOID:0080662", "recommended_name": "atrial standstill 1", "synonyms": [ { "id": "MONDO:0007171", "name": "atrial standstill 1" }, { "id": "MONDO:0007171", "name": "atrial standstill 1" }, { "id": "MONDO:0007171", "name": "atrial standstill type 1" }, { "id": "MONDO:0007171", "name": "atrial standstill, digenic (GJA5/SCN5A)" }, { "id": "MONDO:0007171", "name": "ATRST1" }, { "id": "MIM:108770", "name": "Atrial standstill 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080662", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080663", "disease_id": "DOID:0080663", "recommended_name": "atrial standstill 2", "synonyms": [ { "id": "MONDO:0014329", "name": "atrial standstill 2" }, { "id": "MONDO:0014329", "name": "NPPA atrial standstill" }, { "id": "MONDO:0014329", "name": "atrial standstill 2" }, { "id": "MONDO:0014329", "name": "atrial standstill caused by mutation in NPPA" }, { "id": "MONDO:0014329", "name": "atrial standstill type 2" }, { "id": "MONDO:0014329", "name": "ATRST2" }, { "id": "MIM:615745", "name": "Atrial standstill 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080663", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080664", "disease_id": "DOID:0080664", "recommended_name": "diaphyseal medullary stenosis with malignant fibrous histiocytoma", "synonyms": [ { "id": "DOID:0080664", "name": "Hardcastle syndrome" }, { "id": "DOID:0080664", "name": "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome" }, { "id": "DOID:0080664", "name": "bone dysplasia-medullary fibrosarcoma syndrome" }, { "id": "MONDO:0007205", "name": "diaphyseal medullary stenosis-bone malignancy syndrome" }, { "id": "MONDO:0007205", "name": "DMS-MFH" }, { "id": "MONDO:0007205", "name": "Hardcastle syndrome" }, { "id": "MONDO:0007205", "name": "Hardcastle's syndrome" }, { "id": "MONDO:0007205", "name": "bone dysplasia-medullary fibrosarcoma syndrome" }, { "id": "MONDO:0007205", "name": "diaphyseal medullary stenosis-bone malignancy syndrome" }, { "id": "MONDO:0007205", "name": "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome" }, { "id": "MONDO:0007205", "name": "BDMF" }, { "id": "MONDO:0007205", "name": "DMSMFH" }, { "id": "MONDO:0007205", "name": "diaphyseal medullary stenosis with malignant fibrous histiocytoma" }, { "id": "MIM:112250", "name": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma" } ], "record_url": "http://disease-ontology.org/term/DOID:0080664", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080665", "disease_id": "DOID:0080665", "recommended_name": "warfarin resistance", "synonyms": [ { "id": "MONDO:0007390", "name": "coumarin resistance" }, { "id": "MONDO:0007390", "name": "coumarin resistance" }, { "id": "MIM:122700", "name": "Coumarin resistance" } ], "record_url": "http://disease-ontology.org/term/DOID:0080665", "snv_count": 0, "protein_count": 29, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 3.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080666", "disease_id": "DOID:0080666", "recommended_name": "warfarin sensitivity", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080666", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080669", "disease_id": "DOID:0080669", "recommended_name": "posterior polymorphous corneal dystrophy 4", "synonyms": [ { "id": "MONDO:0054832", "name": "corneal dystrophy, posterior polymorphous, 4" }, { "id": "MONDO:0054832", "name": "PPCD4" }, { "id": "MIM:618031", "name": "Corneal dystrophy, posterior polymorphous, 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080669", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001100001" }, { "record_id": "doid.0080670", "disease_id": "DOID:0080670", "recommended_name": "Meesmann corneal dystrophy 1", "synonyms": [ { "id": "MONDO:0020791", "name": "corneal dystrophy, Meesmann, 1" }, { "id": "MONDO:0020791", "name": "MECD1" }, { "id": "MIM:122100", "name": "Corneal dystrophy, Meesmann 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080670", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080671", "disease_id": "DOID:0080671", "recommended_name": "Meesmann corneal dystrophy 2", "synonyms": [ { "id": "MONDO:0032904", "name": "corneal dystrophy, Meesmann, 2" }, { "id": "MONDO:0032904", "name": "MECD2" }, { "id": "MIM:618767", "name": "Corneal dystrophy, Meesmann 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080671", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001000001" }, { "record_id": "doid.0080672", "disease_id": "DOID:0080672", "recommended_name": "fibrochondrogenesis 1", "synonyms": [ { "id": "MONDO:0009226", "name": "fibrochondrogenesis 1" }, { "id": "MONDO:0009226", "name": "COL11A1 fibrochondrogenesis" }, { "id": "MONDO:0009226", "name": "fibrochondrogenesis 1" }, { "id": "MONDO:0009226", "name": "fibrochondrogenesis caused by mutation in COL11A1" }, { "id": "MONDO:0009226", "name": "fibrochondrogenesis type 1" }, { "id": "MONDO:0009226", "name": "FBCG1" }, { "id": "MIM:228520", "name": "Fibrochondrogenesis 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080672", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080673", "disease_id": "DOID:0080673", "recommended_name": "fibrochondrogenesis 2", "synonyms": [ { "id": "MONDO:0013795", "name": "fibrochondrogenesis 2" }, { "id": "MONDO:0013795", "name": "COL11A2 fibrochondrogenesis" }, { "id": "MONDO:0013795", "name": "fibrochondrogenesis 2" }, { "id": "MONDO:0013795", "name": "fibrochondrogenesis caused by mutation in COL11A2" }, { "id": "MONDO:0013795", "name": "fibrochondrogenesis type 2" }, { "id": "MONDO:0013795", "name": "FBCG2" }, { "id": "MIM:614524", "name": "Fibrochondrogenesis 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080673", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080675", "disease_id": "DOID:0080675", "recommended_name": "Stickler syndrome 2", "synonyms": [ { "id": "MONDO:0011493", "name": "Stickler syndrome type 2" }, { "id": "MONDO:0011493", "name": "COL11A1 Stickler syndrome" }, { "id": "MONDO:0011493", "name": "Stickler syndrome caused by mutation in COL11A1" }, { "id": "MONDO:0011493", "name": "Stickler syndrome type II" }, { "id": "MONDO:0011493", "name": "STICKLER syndrome, type II" }, { "id": "MONDO:0011493", "name": "STL 2" }, { "id": "MONDO:0011493", "name": "STL2" }, { "id": "MONDO:0011493", "name": "Stickler syndrome, type 2" }, { "id": "MIM:604841", "name": "Stickler syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080675", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080676", "disease_id": "DOID:0080676", "recommended_name": "Stickler syndrome 1", "synonyms": [ { "id": "MONDO:0007160", "name": "Stickler syndrome type 1" }, { "id": "MONDO:0007160", "name": "Stickler syndrome type 1" }, { "id": "MONDO:0007160", "name": "STL1" }, { "id": "MONDO:0007160", "name": "Stickler syndrome, type I" }, { "id": "MIM:108300", "name": "Stickler syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080676", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080677", "disease_id": "DOID:0080677", "recommended_name": "otospondylomegaepiphyseal dysplasia, autosomal dominant", "synonyms": [ { "id": "MONDO:0008490", "name": "otospondylomegaepiphyseal dysplasia, autosomal dominant" }, { "id": "MONDO:0008490", "name": "COL11A2 Stickler syndrome" }, { "id": "MONDO:0008490", "name": "OSMED, Heterozygous" }, { "id": "MONDO:0008490", "name": "OSMED, heterozygous" }, { "id": "MONDO:0008490", "name": "OSMEDA" }, { "id": "MONDO:0008490", "name": "Pierre Robin sequence-fetal chondrodysplasia syndrome" }, { "id": "MONDO:0008490", "name": "Pierre Robin syndrome with fetal chondrodysplasia" }, { "id": "MONDO:0008490", "name": "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type" }, { "id": "MONDO:0008490", "name": "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" }, { "id": "MONDO:0008490", "name": "Pierre Robin syndrome with foetal chondrodysplasia" }, { "id": "MONDO:0008490", "name": "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type" }, { "id": "MONDO:0008490", "name": "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" }, { "id": "MONDO:0008490", "name": "Pierre Robin syndrome-fetal chondrodysplasia syndrome" }, { "id": "MONDO:0008490", "name": "STICKLER syndrome, type III" }, { "id": "MONDO:0008490", "name": "STL3" }, { "id": "MONDO:0008490", "name": "Stickler syndrome caused by mutation in COL11A2" }, { "id": "MONDO:0008490", "name": "Stickler syndrome, non-ocular type" }, { "id": "MONDO:0008490", "name": "Stickler syndrome, type 3" }, { "id": "MONDO:0008490", "name": "Stickler syndrome, type III, formerly" }, { "id": "MONDO:0008490", "name": "WZS" }, { "id": "MONDO:0008490", "name": "Weissenbacher-Zweymuller syndrome" }, { "id": "MONDO:0008490", "name": "heterozygous OSMED" }, { "id": "MONDO:0008490", "name": "heterozygous otospondylomegaepiphyseal dysplasia" }, { "id": "MONDO:0008490", "name": "otospondylomegaepiphyseal dysplasia, autosomal dominant" }, { "id": "MONDO:0008490", "name": "Stickler syndrome nonocular type" }, { "id": "MONDO:0008490", "name": "Stickler syndrome, Nonocular type" }, { "id": "MONDO:0008490", "name": "Weissenbacher-Zweymller syndrome" }, { "id": "MONDO:0008490", "name": "otospondylomegaepiphyseal dysplasia, autosomal dominant" }, { "id": "MONDO:0008490", "name": "COL11A2 Stickler syndrome" }, { "id": "MONDO:0008490", "name": "OSMED, Heterozygous" }, { "id": "MONDO:0008490", "name": "OSMED, heterozygous" }, { "id": "MONDO:0008490", "name": "OSMEDA" }, { "id": "MONDO:0008490", "name": "Pierre Robin sequence-fetal chondrodysplasia syndrome" }, { "id": "MONDO:0008490", "name": "Pierre Robin syndrome with fetal chondrodysplasia" }, { "id": "MONDO:0008490", "name": "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type" }, { "id": "MONDO:0008490", "name": "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" }, { "id": "MONDO:0008490", "name": "Pierre Robin syndrome with foetal chondrodysplasia" }, { "id": "MONDO:0008490", "name": "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type" }, { "id": "MONDO:0008490", "name": "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" }, { "id": "MONDO:0008490", "name": "Pierre Robin syndrome-fetal chondrodysplasia syndrome" }, { "id": "MONDO:0008490", "name": "STICKLER syndrome, type III" }, { "id": "MONDO:0008490", "name": "STL3" }, { "id": "MONDO:0008490", "name": "Stickler syndrome caused by mutation in COL11A2" }, { "id": "MONDO:0008490", "name": "Stickler syndrome, non-ocular type" }, { "id": "MONDO:0008490", "name": "Stickler syndrome, type 3" }, { "id": "MONDO:0008490", "name": "Stickler syndrome, type III, formerly" }, { "id": "MONDO:0008490", "name": "WZS" }, { "id": "MONDO:0008490", "name": "Weissenbacher-Zweymuller syndrome" }, { "id": "MONDO:0008490", "name": "heterozygous OSMED" }, { "id": "MONDO:0008490", "name": "heterozygous otospondylomegaepiphyseal dysplasia" }, { "id": "MONDO:0008490", "name": "otospondylomegaepiphyseal dysplasia, autosomal dominant" }, { "id": "MONDO:0008490", "name": "Stickler syndrome nonocular type" }, { "id": "MONDO:0008490", "name": "Stickler syndrome, Nonocular type" }, { "id": "MONDO:0008490", "name": "Weissenbacher-Zweymller syndrome" }, { "id": "MIM:184840", "name": "Otospondylomegaepiphyseal dysplasia, autosomal dominant" } ], "record_url": "http://disease-ontology.org/term/DOID:0080677", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080678", "disease_id": "DOID:0080678", "recommended_name": "mucolipidosis III gamma", "synonyms": [ { "id": "MONDO:0009652", "name": "GNPTG-mucolipidosis" }, { "id": "MONDO:0009652", "name": "GNPTG-mucolipidosis" }, { "id": "MONDO:0009652", "name": "ML 3 gamma" }, { "id": "MONDO:0009652", "name": "ML III gamma" }, { "id": "MONDO:0009652", "name": "mucolipidosis type 3 gamma" }, { "id": "MONDO:0009652", "name": "mucolipidosis type III gamma" }, { "id": "MIM:252605", "name": "Mucolipidosis type III complementation group C" } ], "record_url": "http://disease-ontology.org/term/DOID:0080678", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001100001" }, { "record_id": "doid.0080679", "disease_id": "DOID:0080679", "recommended_name": "neuronal intestinal dysplasia type A", "synonyms": [ { "id": "MONDO:8000011", "name": "visceral neuropathy, familial, 1, autosomal recessive" }, { "id": "MONDO:8000011", "name": "Argyrophil myenteric plexus deficiency of" }, { "id": "MONDO:8000011", "name": "pseudoobstruction chronic idiopathic intestinal neuronal type" }, { "id": "MONDO:8000011", "name": "visceral neuropathy familial" }, { "id": "MIM:243180", "name": "Visceral neuropathy, familial, 1, autosomal recessive" } ], "record_url": "http://disease-ontology.org/term/DOID:0080679", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080681", "disease_id": "DOID:0080681", "recommended_name": "X-linked chronic idiopathic intestinal pseudo-obstruction", "synonyms": [ { "id": "MONDO:0010232", "name": "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked" }, { "id": "MONDO:0010232", "name": "congenital short bowel syndrome, X-linked recessive" }, { "id": "MONDO:0010232", "name": "intestinal pseudoobstruction, neuronal, X-linked recessive" }, { "id": "MONDO:0010232", "name": "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked" }, { "id": "MONDO:0010232", "name": "CIIP" }, { "id": "MONDO:0010232", "name": "CIIP X-linked" }, { "id": "MONDO:0010232", "name": "CIIPX" }, { "id": "MONDO:0010232", "name": "intestinal pseudoobstruction neuronal chronic idiopathic X-linked" }, { "id": "MIM:300048", "name": "Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked" } ], "record_url": "http://disease-ontology.org/term/DOID:0080681", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080683", "disease_id": "DOID:0080683", "recommended_name": "nonsyndromic congenital nail disorder", "synonyms": [ { "id": "MONDO:0008060", "name": "nonsyndromic congenital nail disorder 1" }, { "id": "MONDO:0008060", "name": "FZD6 inherited isolated nail anomaly" }, { "id": "MONDO:0008060", "name": "inherited isolated nail anomaly caused by mutation in FZD6" }, { "id": "MONDO:0008060", "name": "nail disorder, nonsyndromic congenital, type 10" }, { "id": "MONDO:0008060", "name": "nonsyndromic congenital nail disorder 10" }, { "id": "MONDO:0008060", "name": "nonsyndromic congenital nail disorder type 1" }, { "id": "MONDO:0008060", "name": "nonsyndromic congenital nail disorder type 10" }, { "id": "MONDO:0008060", "name": "onychodystrophy totalis" }, { "id": "MONDO:0008060", "name": "twenty-nail dystrophy" }, { "id": "MONDO:0008060", "name": "NDNC1" }, { "id": "MONDO:0008060", "name": "NDNC10" }, { "id": "MONDO:0008060", "name": "nail disorder, nonsyndromic congenital 1" }, { "id": "MONDO:0008060", "name": "nail disorder, nonsyndromic congenital, 1" }, { "id": "MONDO:0008060", "name": "nail disorder, nonsyndromic congenital, 10" }, { "id": "MONDO:0008060", "name": "sandpaper nails" }, { "id": "MONDO:0008060", "name": "trachyonychia" }, { "id": "MONDO:0008060", "name": "twenty nail dystrophy" }, { "id": "MIM:161050", "name": "Nail disorder, non-syndromic congenital, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080683", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0080684", "disease_id": "DOID:0080684", "recommended_name": "diffuse midline glioma, H3 K27-altered", "synonyms": [ { "id": "DOID:0080684", "name": "diffuse midline glioma, H3 K27M-mutant" }, { "id": "DOID:0080684", "name": "diffuse intrinsic pontine glioma" } ], "record_url": "http://disease-ontology.org/term/DOID:0080684", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080685", "disease_id": "DOID:0080685", "recommended_name": "aortic dissection", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080685", "snv_count": 0, "protein_count": 37, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 3.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080686", "disease_id": "DOID:0080686", "recommended_name": "tubular aggregate myopathy 2", "synonyms": [ { "id": "MONDO:0014383", "name": "myopathy, tubular aggregate, 2" }, { "id": "MONDO:0014383", "name": "ORAI1 tubular aggregate myopathy" }, { "id": "MONDO:0014383", "name": "myopathy, tubular aggregate, 2" }, { "id": "MONDO:0014383", "name": "myopathy, tubular aggregate, type 2" }, { "id": "MONDO:0014383", "name": "tubular aggregate myopathy caused by mutation in ORAI1" }, { "id": "MONDO:0014383", "name": "TAM2" }, { "id": "MIM:615883", "name": "Myopathy, tubular aggregate, 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080686", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080687", "disease_id": "DOID:0080687", "recommended_name": "reducing body myopathy 1B", "synonyms": [ { "id": "MONDO:0010415", "name": "myopathy, reducing body, X-linked, childhood-onset" }, { "id": "MONDO:0010415", "name": "myopathy, reducing body, X-linked, childhood-onset" }, { "id": "MONDO:0010415", "name": "RBMX1B" }, { "id": "MIM:300718", "name": "Reducing body myopathy, X-linked 1B, with late childhood or adult onset" } ], "record_url": "http://disease-ontology.org/term/DOID:0080687", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080688", "disease_id": "DOID:0080688", "recommended_name": "mosaic variegated aneuploidy syndrome", "synonyms": [ { "id": "MONDO:0009759", "name": "mosaic variegated aneuploidy syndrome 1" }, { "id": "MONDO:0009759", "name": "BUB1B mosaic variegated aneuploidy syndrome" }, { "id": "MONDO:0009759", "name": "Mosaic variegated aneuploidy syndrome type 1" }, { "id": "MONDO:0009759", "name": "mosaic variegated aneuploidy syndrome 1" }, { "id": "MONDO:0009759", "name": "mosaic variegated aneuploidy syndrome caused by mutation in BUB1B" }, { "id": "MONDO:0009759", "name": "mosaic variegated aneuploidy syndrome type 1" }, { "id": "MONDO:0009759", "name": "MVA1" }, { "id": "MIM:257300", "name": "Mosaic variegated aneuploidy syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080688", "snv_count": 0, "protein_count": 11, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.2, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080689", "disease_id": "DOID:0080689", "recommended_name": "mosaic variegated aneuploidy syndrome 3", "synonyms": [ { "id": "MONDO:0054736", "name": "mosaic variegated aneuploidy syndrome 3" }, { "id": "MONDO:0054736", "name": "MVA3" }, { "id": "MIM:617598", "name": "Mosaic variegated aneuploidy syndrome 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080689", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080690", "disease_id": "DOID:0080690", "recommended_name": "RASopathy", "synonyms": [ { "id": "DOID:0080690", "name": "RAS/mitogen-activated protein kinase syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080690", "snv_count": 0, "protein_count": 46, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 4.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080691", "disease_id": "DOID:0080691", "recommended_name": "Noonan syndrome-like disorder with loose anagen hair", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080691", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080692", "disease_id": "DOID:0080692", "recommended_name": "Noonan syndrome-like disorder with loose anagen hair 1", "synonyms": [ { "id": "MONDO:0054637", "name": "Noonan syndrome-like disorder with loose anagen hair 1" }, { "id": "MONDO:0054637", "name": "NSLH" }, { "id": "MONDO:0054637", "name": "NSLH1" }, { "id": "MONDO:0054637", "name": "Noonan syndrome-like disorder with loose anagen hair 1" }, { "id": "MONDO:0054637", "name": "Noonan syndrome-like with loose anagen hair 1" }, { "id": "MIM:607721", "name": "Noonan syndrome-like disorder with loose anagen hair 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080692", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080693", "disease_id": "DOID:0080693", "recommended_name": "Noonan syndrome-like disorder with loose anagen hair 2", "synonyms": [ { "id": "MONDO:0054588", "name": "Noonan syndrome-like disorder with loose anagen hair 2" }, { "id": "MONDO:0054588", "name": "Noonan syndrome-like disorder with loose anagen hair 2" }, { "id": "MONDO:0054588", "name": "NSLH2" }, { "id": "MIM:617506", "name": "Noonan syndrome-like disorder with loose anagen hair 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080693", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080694", "disease_id": "DOID:0080694", "recommended_name": "Galloway-Mowat syndrome", "synonyms": [ { "id": "MONDO:0033005", "name": "Galloway-Mowat syndrome 1" }, { "id": "MONDO:0033005", "name": "Galloway-Mowat syndrome 1" }, { "id": "MONDO:0033005", "name": "GAMOS1" }, { "id": "MONDO:0033005", "name": "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities" }, { "id": "MONDO:0033005", "name": "spinocerebellar ataxia, autosomal recessive 5" }, { "id": "MIM:251300", "name": "Galloway-Mowat syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080694", "snv_count": 0, "protein_count": 26, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 2.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080695", "disease_id": "DOID:0080695", "recommended_name": "Burn-McKeown syndrome", "synonyms": [ { "id": "DOID:0080695", "name": "Choanal atresia - deafness - cardiac defects - dysmorphism syndrome" }, { "id": "MONDO:0012064", "name": "choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome" }, { "id": "MONDO:0012064", "name": "Burn-McKeown syndrome" }, { "id": "MONDO:0012064", "name": "oculootofacial dysplasia" }, { "id": "MONDO:0012064", "name": "BMKS" }, { "id": "MONDO:0012064", "name": "bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance" }, { "id": "MONDO:0012064", "name": "choanal atresia deafness cardiac defects dysmorphism" }, { "id": "MIM:608572", "name": "Burn-McKeown syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080695", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101010" }, { "record_id": "doid.0080696", "disease_id": "DOID:0080696", "recommended_name": "Winchester syndrome", "synonyms": [ { "id": "MONDO:0010201", "name": "Winchester syndrome" }, { "id": "MONDO:0010201", "name": "MMP14-related multicentric osteolysis, nodulosis, and arthropathy" }, { "id": "MONDO:0010201", "name": "MONA, MMP14-related" }, { "id": "MONDO:0010201", "name": "WNCHRS" }, { "id": "MONDO:0010201", "name": "Winchester syndrome" }, { "id": "MONDO:0010201", "name": "multicentric osteolysis, nodulosis and arthropathy, MMP14-related" }, { "id": "MONDO:0010201", "name": "Al-Qeel Sewairi syndrome" }, { "id": "MONDO:0010201", "name": "NOA syndrome" }, { "id": "MONDO:0010201", "name": "multicentric osteolysis, nodulosis and arthropathy" }, { "id": "MONDO:0010201", "name": "nodulosis arthropathy osteolysis syndrome" }, { "id": "MIM:277950", "name": "Winchester syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080696", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080697", "disease_id": "DOID:0080697", "recommended_name": "Opitz GBBB syndrome", "synonyms": [ { "id": "DOID:0080697", "name": "Opitz G/BBB Syndrome" }, { "id": "DOID:0080697", "name": "Opitz GBBB syndrome type I" }, { "id": "MONDO:0010222", "name": "X-linked Opitz G/BBB syndrome" }, { "id": "MONDO:0010222", "name": "Opitz G/BBB syndrome, X-linked" }, { "id": "MONDO:0010222", "name": "Opitz GBBB syndrome, type I, X-linked recessive" }, { "id": "MONDO:0010222", "name": "X-linked Opitz BBB/G syndrome" }, { "id": "MONDO:0010222", "name": "X-linked Opitz G/BBB syndrome" }, { "id": "MONDO:0010222", "name": "X-linked Opitz syndrome" }, { "id": "MONDO:0010222", "name": "XLOS" }, { "id": "MONDO:0010222", "name": "GBBB1" }, { "id": "MONDO:0010222", "name": "Opitz Bbbg syndrome, type 1" }, { "id": "MONDO:0010222", "name": "Opitz GBBB syndrome, type 1" }, { "id": "MONDO:0010222", "name": "Opitz GBBB syndrome, type I" }, { "id": "MONDO:0010222", "name": "Opitz-G syndrome, type 1" }, { "id": "MIM:300000", "name": "Opitz GBBB syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080697", "snv_count": 0, "protein_count": 13, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.4, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080698", "disease_id": "DOID:0080698", "recommended_name": "Teebi hypertelorism syndrome 1", "synonyms": [ { "id": "DOID:0080698", "name": "Opitz GBBB syndrome type II" }, { "id": "DOID:0080698", "name": "SPECC1L-related hypertelorism syndrome" }, { "id": "DOID:0080698", "name": "Teebi hypertelorism syndrome-1" }, { "id": "MONDO:0800025", "name": "Teebi hypertelorism syndrome 1" }, { "id": "MONDO:0800025", "name": "Teebi hypertelorism syndrome" }, { "id": "MONDO:0800025", "name": "Teebi syndrome" }, { "id": "MONDO:0800025", "name": "hypertelorism, Teebi type" }, { "id": "MONDO:0800025", "name": "Brachycephalofrontonasal dysplasia" }, { "id": "MONDO:0800025", "name": "craniofrontonasal dysplasia, Teebi type" }, { "id": "MIM:145420", "name": "Teebi hypertelorism syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080698", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080699", "disease_id": "DOID:0080699", "recommended_name": "glutathione synthetase deficiency", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080699", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080700", "disease_id": "DOID:0080700", "recommended_name": "caudal regression syndrome", "synonyms": [ { "id": "DOID:0080700", "name": "caudal dysgenesis syndrome" }, { "id": "DOID:0080700", "name": "caudal dysplasia sequence" }, { "id": "DOID:0080700", "name": "caudal regression sequence" }, { "id": "DOID:0080700", "name": "sacral agenesis" }, { "id": "DOID:0080700", "name": "sacral defect with anterior meningocele" } ], "record_url": "http://disease-ontology.org/term/DOID:0080700", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080701", "disease_id": "DOID:0080701", "recommended_name": "prothrombin thrombophilia", "synonyms": [ { "id": "MONDO:0008559", "name": "thrombophilia due to thrombin defect" }, { "id": "MONDO:0008559", "name": "Venous thromboembolism" }, { "id": "MONDO:0008559", "name": "prothrombin thrombophilia" }, { "id": "MONDO:0008559", "name": "prothrombin-related thrombophilia" }, { "id": "MONDO:0008559", "name": "thrombophilia 1 due to thrombin defect" }, { "id": "MONDO:0008559", "name": "thrombophilia due to thrombin defect" }, { "id": "MONDO:0008559", "name": "venous thromboembolism, susceptibility to" }, { "id": "MONDO:0008559", "name": "venous thrombosis, protection against" }, { "id": "MONDO:0008559", "name": "THPH1" }, { "id": "MONDO:0008559", "name": "factor II-related thrombophilia" }, { "id": "MONDO:0008559", "name": "hyperprothrombinemia" }, { "id": "MONDO:0008559", "name": "prothrombin 20210G>A thrombophilia" }, { "id": "MONDO:0008559", "name": "prothrombin G20210A thrombophilia" }, { "id": "MIM:188050", "name": "Thrombophilia due to thrombin defect" } ], "record_url": "http://disease-ontology.org/term/DOID:0080701", "snv_count": 0, "protein_count": 0, "glycan_count": 0, "biomarker_count": 0, "species_list": "", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.1, "record_type": "disease", "filter_code": "0000000.000.000000000000000000" }, { "record_id": "doid.0080715", "disease_id": "DOID:0080715", "recommended_name": "developmental and epileptic encephalopathy 82", "synonyms": [ { "id": "DOID:0080715", "name": "early infantile epileptic encephalopathy 82" }, { "id": "DOID:0080715", "name": "DEE82" }, { "id": "MONDO:0032880", "name": "developmental and epileptic encephalopathy, 82" }, { "id": "MONDO:0032880", "name": "DEE82" }, { "id": "MONDO:0032880", "name": "EIEE82" }, { "id": "MONDO:0032880", "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82" }, { "id": "MONDO:0032880", "name": "developmental and epileptic encephalopathy 82" }, { "id": "MONDO:0032880", "name": "epileptic encephalopathy, early infantile, 82" }, { "id": "MIM:618721", "name": "Developmental and epileptic encephalopathy 82" } ], "record_url": "http://disease-ontology.org/term/DOID:0080715", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080716", "disease_id": "DOID:0080716", "recommended_name": "infantile liver failure syndrome", "synonyms": [ { "id": "MONDO:0024568", "name": "infantile liver failure syndrome 1" }, { "id": "MONDO:0024568", "name": "LARS infantile liver failure" }, { "id": "MONDO:0024568", "name": "Lars infantile liver failure" }, { "id": "MONDO:0024568", "name": "infantile liver failure caused by mutation in LARS" }, { "id": "MONDO:0024568", "name": "infantile liver failure caused by mutation in Lars" }, { "id": "MONDO:0024568", "name": "infantile liver failure syndrome 1" }, { "id": "MONDO:0024568", "name": "infantile liver failure syndrome type 1" }, { "id": "MONDO:0024568", "name": "ILFS1" }, { "id": "MIM:615438", "name": "Infantile liver failure syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080716", "snv_count": 0, "protein_count": 16, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080717", "disease_id": "DOID:0080717", "recommended_name": "infantile liver failure syndrome 1", "synonyms": [ { "id": "MONDO:0024568", "name": "infantile liver failure syndrome 1" }, { "id": "MONDO:0024568", "name": "LARS infantile liver failure" }, { "id": "MONDO:0024568", "name": "Lars infantile liver failure" }, { "id": "MONDO:0024568", "name": "infantile liver failure caused by mutation in LARS" }, { "id": "MONDO:0024568", "name": "infantile liver failure caused by mutation in Lars" }, { "id": "MONDO:0024568", "name": "infantile liver failure syndrome 1" }, { "id": "MONDO:0024568", "name": "infantile liver failure syndrome type 1" }, { "id": "MONDO:0024568", "name": "ILFS1" }, { "id": "MIM:615438", "name": "Infantile liver failure syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080717", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001100010" }, { "record_id": "doid.0080718", "disease_id": "DOID:0080718", "recommended_name": "GNE myopathy", "synonyms": [ { "id": "DOID:0080718", "name": "Distal myopathy, Nonaka type" }, { "id": "DOID:0080718", "name": "Hereditary Inclusion Body Myopathy" }, { "id": "DOID:0080718", "name": "Nonaka myopathy" }, { "id": "DOID:0080718", "name": "inclusion body myopathy 2" }, { "id": "MONDO:0011603", "name": "GNE myopathy" }, { "id": "MONDO:0011603", "name": "DMRV" }, { "id": "MONDO:0011603", "name": "HIBM2" }, { "id": "MONDO:0011603", "name": "IBM2" }, { "id": "MONDO:0011603", "name": "Nonaka myopathy" }, { "id": "MONDO:0011603", "name": "distal myopathy with rimmed vacuoles" }, { "id": "MONDO:0011603", "name": "distal myopathy, Nonaka type" }, { "id": "MONDO:0011603", "name": "hereditary inclusion body myopathy type 2" }, { "id": "MONDO:0011603", "name": "inclusion body myopathy autosomal recessive" }, { "id": "MONDO:0011603", "name": "inclusion body myopathy type 2" }, { "id": "MONDO:0011603", "name": "quadriceps-sparing myopathy" }, { "id": "MONDO:0011603", "name": "NM" }, { "id": "MONDO:0011603", "name": "QSM" }, { "id": "MONDO:0011603", "name": "inclusion body myopathy 2, autosomal recessive" }, { "id": "MONDO:0011603", "name": "inclusion body myopathy, autosomal recessive" }, { "id": "MONDO:0011603", "name": "inclusion body myopathy, quadriceps-sparing" }, { "id": "MONDO:0011603", "name": "quadriceps sparing myopathy" }, { "id": "MONDO:0011603", "name": "rimmed vacuole myopathy" }, { "id": "MIM:605820", "name": "Nonaka myopathy" } ], "record_url": "http://disease-ontology.org/term/DOID:0080718", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080719", "disease_id": "DOID:0080719", "recommended_name": "congenital myopathy 6", "synonyms": [ { "id": "DOID:0080719", "name": "inclusion body myopathy 3" }, { "id": "DOID:0080719", "name": "proximal myopathy and ophthalmoplegia" }, { "id": "DOID:0080719", "name": "congenital myopathy 6 with ophthalmoplegia" }, { "id": "MONDO:0011577", "name": "myopathy, proximal, and ophthalmoplegia" }, { "id": "MONDO:0011577", "name": "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles" }, { "id": "MONDO:0011577", "name": "myopathy, proximal, and ophthalmoplegia" }, { "id": "MONDO:0011577", "name": "MYPOP" }, { "id": "MONDO:0011577", "name": "inclusion body myopathy 3, autosomal dominant" }, { "id": "MIM:605637", "name": "Congenital myopathy 6 with ophthalmoplegia" } ], "record_url": "http://disease-ontology.org/term/DOID:0080719", "snv_count": 0, "protein_count": 38, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 3.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080720", "disease_id": "DOID:0080720", "recommended_name": "autosomal dominant congenital deafness with onychodystrophy", "synonyms": [ { "id": "MONDO:0007420", "name": "autosomal dominant deafness - onychodystrophy syndrome" }, { "id": "MONDO:0007420", "name": "DDOD syndrome" }, { "id": "MONDO:0007420", "name": "autosomal dominant deafness-onychodystrophy syndrome" }, { "id": "MONDO:0007420", "name": "deafness-onychodystrophy syndrome, autosomal dominant" }, { "id": "MONDO:0007420", "name": "DDOD" }, { "id": "MONDO:0007420", "name": "Robinson Miller Bensimon syndrome" }, { "id": "MONDO:0007420", "name": "Robinson-Miller-Bensimon syndrome" }, { "id": "MONDO:0007420", "name": "deafness and onychodystrophy, dominant form" }, { "id": "MONDO:0007420", "name": "deafness, congenital, and onychodystrophy, autosomal dominant" }, { "id": "MONDO:0007420", "name": "familial ectodermal dysplasia with sensori-neural deafness and other anomalies" }, { "id": "MIM:124480", "name": "Deafness, congenital, with onychodystrophy, autosomal dominant" } ], "record_url": "http://disease-ontology.org/term/DOID:0080720", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080721", "disease_id": "DOID:0080721", "recommended_name": "calvarial doughnut lesions with bone fragility", "synonyms": [ { "id": "MONDO:0007470", "name": "calvarial doughnut lesions-bone fragility syndrome" }, { "id": "MONDO:0007470", "name": "calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia" }, { "id": "MONDO:0007470", "name": "familial doughnut lesions of skull" }, { "id": "MIM:126550", "name": "Calvarial doughnut lesions with bone fragility" } ], "record_url": "http://disease-ontology.org/term/DOID:0080721", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080722", "disease_id": "DOID:0080722", "recommended_name": "Kenny-Caffey syndrome type 1", "synonyms": [ { "id": "MONDO:0009486", "name": "autosomal recessive Kenny-Caffey syndrome" }, { "id": "MONDO:0009486", "name": "Kenny-Caffey syndrome type 1" }, { "id": "MONDO:0009486", "name": "Kenny-Caffey syndrome, autosomal recessive" }, { "id": "MONDO:0009486", "name": "KCS1" }, { "id": "MONDO:0009486", "name": "Kenny-Caffey syndrome, type 1" }, { "id": "MIM:244460", "name": "Kenny-Caffey syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080722", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080723", "disease_id": "DOID:0080723", "recommended_name": "Kenny-Caffey syndrome type 2", "synonyms": [ { "id": "MONDO:0007478", "name": "autosomal dominant Kenny-Caffey syndrome" }, { "id": "MONDO:0007478", "name": "KCS2" }, { "id": "MONDO:0007478", "name": "Kenny-Caffey syndrome type 2" }, { "id": "MONDO:0007478", "name": "Kenny-Caffey syndrome, autosomal dominant" }, { "id": "MONDO:0007478", "name": "Kenny-Caffey syndrome, type 2" }, { "id": "MONDO:0007478", "name": "dwarfism, cortical thickening of tubular bones and transient hypocalcemia" }, { "id": "MIM:127000", "name": "Kenny-Caffey syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080723", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080724", "disease_id": "DOID:0080724", "recommended_name": "Kenny-Caffey syndrome", "synonyms": [ { "id": "MONDO:0007478", "name": "autosomal dominant Kenny-Caffey syndrome" }, { "id": "MONDO:0007478", "name": "KCS2" }, { "id": "MONDO:0007478", "name": "Kenny-Caffey syndrome type 2" }, { "id": "MONDO:0007478", "name": "Kenny-Caffey syndrome, autosomal dominant" }, { "id": "MONDO:0007478", "name": "Kenny-Caffey syndrome, type 2" }, { "id": "MONDO:0007478", "name": "dwarfism, cortical thickening of tubular bones and transient hypocalcemia" }, { "id": "MIM:127000", "name": "Kenny-Caffey syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080724", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.100.000000000001000000" }, { "record_id": "doid.0080725", "disease_id": "DOID:0080725", "recommended_name": "BASAN syndrome", "synonyms": [ { "id": "MONDO:0007507", "name": "absence of fingerprints-congenital milia syndrome" }, { "id": "MONDO:0007507", "name": "Baird syndrome" }, { "id": "MONDO:0007507", "name": "absence of dermatoglyphics-congenital milia syndrome" }, { "id": "MONDO:0007507", "name": "Basan syndrome" }, { "id": "MONDO:0007507", "name": "absence of dermatoglyphics congenital milia" }, { "id": "MONDO:0007507", "name": "absence of fingerprints congenital milia" }, { "id": "MONDO:0007507", "name": "adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities" }, { "id": "MIM:129200", "name": "Basan syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080725", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080726", "disease_id": "DOID:0080726", "recommended_name": "Ehlers-Danlos syndrome classic type 2", "synonyms": [ { "id": "MONDO:0019568", "name": "Ehlers-Danlos syndrome, classic type, 2" }, { "id": "MONDO:0019568", "name": "EDS II" }, { "id": "MONDO:0019568", "name": "EDSCL2" }, { "id": "MONDO:0019568", "name": "Ehlers-Danlos syndrome, classic type, 2" }, { "id": "MONDO:0019568", "name": "Ehlers Danlos syndrome, mild Classic type" }, { "id": "MONDO:0019568", "name": "Ehlers Danlos syndrome, mitis type" }, { "id": "MIM:130010", "name": "Ehlers-Danlos syndrome, classic type, 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080726", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080727", "disease_id": "DOID:0080727", "recommended_name": "Ehlers-Danlos syndrome arthrochalasia type 1", "synonyms": [ { "id": "MONDO:0020521", "name": "Ehlers-Danlos syndrome type 7A" }, { "id": "MONDO:0020521", "name": "EDS VIIA" }, { "id": "MIM:130060", "name": "Ehlers-Danlos syndrome, arthrochalasia type, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080727", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080728", "disease_id": "DOID:0080728", "recommended_name": "Ehlers-Danlos syndrome arthrochalasia type 2", "synonyms": [ { "id": "MONDO:0040501", "name": "Ehlers-Danlos syndrome, arthrochalasia type, 2" }, { "id": "MONDO:0040501", "name": "EDS 7B" }, { "id": "MONDO:0040501", "name": "EDS VIIB" }, { "id": "MONDO:0040501", "name": "EDSARTH2" }, { "id": "MONDO:0040501", "name": "Ehlers-Danlos syndrome type 7B" }, { "id": "MONDO:0040501", "name": "Ehlers-Danlos syndrome, arthrochalasia type, 2" }, { "id": "MONDO:0040501", "name": "Ehlers-Danlos syndrome, type VIIb, autosomal dominant" }, { "id": "MIM:617821", "name": "Ehlers-Danlos syndrome, arthrochalasia type, 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080728", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080729", "disease_id": "DOID:0080729", "recommended_name": "brittle cornea syndrome 2", "synonyms": [ { "id": "MONDO:0013605", "name": "brittle cornea syndrome 2" }, { "id": "MONDO:0013605", "name": "PRDM5 brittle cornea syndrome" }, { "id": "MONDO:0013605", "name": "brittle cornea syndrome 2" }, { "id": "MONDO:0013605", "name": "brittle cornea syndrome caused by mutation in PRDM5" }, { "id": "MONDO:0013605", "name": "brittle cornea syndrome type 2" }, { "id": "MONDO:0013605", "name": "BCS2" }, { "id": "MIM:614170", "name": "Brittle cornea syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080729", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080730", "disease_id": "DOID:0080730", "recommended_name": "Ehlers-Danlos syndrome cardiac valvular type", "synonyms": [ { "id": "MONDO:0009159", "name": "Ehlers-Danlos syndrome, cardiac valvular type" }, { "id": "MONDO:0009159", "name": "COL1A2-related Ehlers-Danlos syndrome, cardiac valvular type" }, { "id": "MONDO:0009159", "name": "EDS, cardiac valvular type" }, { "id": "MONDO:0009159", "name": "EDSCV" }, { "id": "MONDO:0009159", "name": "Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form" }, { "id": "MONDO:0009159", "name": "cardiac valvular form of Ehlers-Danlos syndrome" }, { "id": "MONDO:0009159", "name": "cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome" }, { "id": "MONDO:0009159", "name": "cardiac-valvular EDS" }, { "id": "MONDO:0009159", "name": "cardiac-valvular Ehlers-Danlos syndrome" }, { "id": "MONDO:0009159", "name": "cvEDS" }, { "id": "MONDO:0009159", "name": "Ehlers-Danlos syndrome, arthrochalasis type" }, { "id": "MIM:225320", "name": "Ehlers-Danlos syndrome, cardiac valvular type" } ], "record_url": "http://disease-ontology.org/term/DOID:0080730", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080731", "disease_id": "DOID:0080731", "recommended_name": "Ehlers-Danlos syndrome classic-like 1", "synonyms": [ { "id": "MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency" }, { "id": "MONDO:0011670", "name": "EDS, classic-like type" }, { "id": "MONDO:0011670", "name": "Ehlers-Danlos syndrome due to tenascin-X deficiency" }, { "id": "MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like type" }, { "id": "MONDO:0011670", "name": "Ehlers-Danlos syndrome, classic-like, 1" }, { "id": "MONDO:0011670", "name": "EDS due to TNX deficiency" }, { "id": "MONDO:0011670", "name": "EDSCLL" }, { "id": "MONDO:0011670", "name": "Ehlers-Danlos-like syndrome due to tenascin-X deficiency" }, { "id": "MONDO:0011670", "name": "TNX deficiency" }, { "id": "MONDO:0011670", "name": "clEDS" }, { "id": "MONDO:0011670", "name": "classical-like EDS" }, { "id": "MONDO:0011670", "name": "classical-like Ehlers-Danlos syndrome" }, { "id": "MIM:606408", "name": "Ehlers-Danlos syndrome, classic-like, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080731", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080732", "disease_id": "DOID:0080732", "recommended_name": "Ehlers-Danlos syndrome classic-like 2", "synonyms": [ { "id": "MONDO:0054813", "name": "Ehlers-Danlos syndrome, classic-like, 2" }, { "id": "MONDO:0054813", "name": "EDSCLL2" }, { "id": "MONDO:0054813", "name": "Ehlers-Danlos syndrome, classic-like, 2" }, { "id": "MIM:618000", "name": "Ehlers-Danlos syndrome, classic-like, 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080732", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080733", "disease_id": "DOID:0080733", "recommended_name": "Ehlers-Danlos syndrome dermatosparaxis type", "synonyms": [ { "id": "MONDO:0009161", "name": "Ehlers-Danlos syndrome, dermatosparaxis type" }, { "id": "MONDO:0009161", "name": "EDS VIIC" }, { "id": "MONDO:0009161", "name": "Ehlers-Danlos syndrome type 7C" }, { "id": "MONDO:0009161", "name": "Ehlers-Danlos syndrome, dermatosparaxis type" }, { "id": "MONDO:0009161", "name": "EDS7C" }, { "id": "MONDO:0009161", "name": "EDSDERMS" }, { "id": "MONDO:0009161", "name": "Ehlers-Danlos syndrome type 7C (formerly)" }, { "id": "MONDO:0009161", "name": "dEDS" }, { "id": "MONDO:0009161", "name": "dermatosparaxis EDS" }, { "id": "MONDO:0009161", "name": "dermatosparaxis Ehlers-Danlos syndrome" }, { "id": "MIM:225410", "name": "Ehlers-Danlos syndrome, dermatosparaxis type" } ], "record_url": "http://disease-ontology.org/term/DOID:0080733", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080734", "disease_id": "DOID:0080734", "recommended_name": "Ehlers-Danlos syndrome kyphoscoliotic type 1", "synonyms": [ { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome, kyphoscoliotic type 1" }, { "id": "MONDO:0016002", "name": "EDS 6" }, { "id": "MONDO:0016002", "name": "EDS, kyphoscoliotic type" }, { "id": "MONDO:0016002", "name": "EDS, oculoscoliotic type" }, { "id": "MONDO:0016002", "name": "EDS6" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome kyphoscoliotic type" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome, kyphoscoliotic type" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome, kyphoscoliotic type 1" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome, oculoscoliotic type" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome, type 6" }, { "id": "MONDO:0016002", "name": "kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency" }, { "id": "MONDO:0016002", "name": "nevo syndrome" }, { "id": "MONDO:0016002", "name": "EDS VIA" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome type 6A" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome, type VIA" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome, type VIA, formerly" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome, type Via" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome, type Via, formerly" }, { "id": "MONDO:0016002", "name": "EDS 6 (formerly)" }, { "id": "MONDO:0016002", "name": "EDS VI" }, { "id": "MONDO:0016002", "name": "EDS6A, formerly" }, { "id": "MONDO:0016002", "name": "EDSKSCL1" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome oculoscoliotic type" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome type 6 (formerly)" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome type 6A (formerly)" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome, kyphoscoliosis type" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome, ocular-scoliotic type" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome, type 6 A" }, { "id": "MONDO:0016002", "name": "Ehlers-Danlos syndrome, type VI" }, { "id": "MONDO:0016002", "name": "kEDS" }, { "id": "MONDO:0016002", "name": "kyphoscoliotic EDS" }, { "id": "MONDO:0016002", "name": "kyphoscoliotic Ehlers-Danlos syndrome" }, { "id": "MIM:225400", "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080734", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080735", "disease_id": "DOID:0080735", "recommended_name": "Ehlers-Danlos syndrome kyphoscoliotic type 2", "synonyms": [ { "id": "MONDO:0013800", "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 2" }, { "id": "MONDO:0013800", "name": "EDS with progressive kyphoscoliosis, myopathy, and deafness" }, { "id": "MONDO:0013800", "name": "EDS with progressive kyphoscoliosis, myopathy, and hearing loss" }, { "id": "MONDO:0013800", "name": "EDS, kyphoscoliotic and hearing loss type" }, { "id": "MONDO:0013800", "name": "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness" }, { "id": "MONDO:0013800", "name": "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" }, { "id": "MONDO:0013800", "name": "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type" }, { "id": "MONDO:0013800", "name": "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type" }, { "id": "MONDO:0013800", "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 2" }, { "id": "MONDO:0013800", "name": "EDSKMH" }, { "id": "MONDO:0013800", "name": "EDSKSCL2" }, { "id": "MIM:614557", "name": "Ehlers-Danlos syndrome, kyphoscoliotic type, 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080735", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080736", "disease_id": "DOID:0080736", "recommended_name": "Ehlers-Danlos syndrome musculocontractural type 1", "synonyms": [ { "id": "MONDO:0020681", "name": "Ehlers-Danlos syndrome, musculocontractural type 1" }, { "id": "MONDO:0020681", "name": "EDSMC" }, { "id": "MONDO:0020681", "name": "EDSMC1" }, { "id": "MIM:601776", "name": "Ehlers-Danlos syndrome, musculocontractural type 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080736", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Zebrafish;Mouse;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080737", "disease_id": "DOID:0080737", "recommended_name": "Ehlers-Danlos syndrome musculocontractural type 2", "synonyms": [ { "id": "MONDO:0014236", "name": "Ehlers-Danlos syndrome, musculocontractural type 2" }, { "id": "MONDO:0014236", "name": "DSE Ehlers-Danlos syndrome, musculocontractural type" }, { "id": "MONDO:0014236", "name": "Ehlers-Danlos syndrome, musculocontractural type 2" }, { "id": "MONDO:0014236", "name": "Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE" }, { "id": "MONDO:0014236", "name": "EDSMC2" }, { "id": "MIM:615539", "name": "Ehlers-Danlos syndrome, musculocontractural type 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080737", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080738", "disease_id": "DOID:0080738", "recommended_name": "Ehlers-Danlos syndrome spondylodysplastic type 1", "synonyms": [ { "id": "MONDO:0020682", "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1" }, { "id": "MONDO:0020682", "name": "EDSSPD1" }, { "id": "MONDO:0020682", "name": "Ehlers-Danlos syndrome with Short stature and Limb anomalies" }, { "id": "MONDO:0020682", "name": "Ehlers-Danlos syndrome, progeroid type 1" }, { "id": "MONDO:0020682", "name": "Ehlers-Danlos syndrome, progeroid type, 1" }, { "id": "MONDO:0020682", "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1" }, { "id": "MONDO:0020682", "name": "PDS, defective biosynthesis of" }, { "id": "MONDO:0020682", "name": "XGPT deficiency" }, { "id": "MONDO:0020682", "name": "dermatan sulfate proteoglycan" }, { "id": "MONDO:0020682", "name": "dermatan sulphate proteoglycan" }, { "id": "MONDO:0020682", "name": "galactosyltransferase 1 deficiency" }, { "id": "MONDO:0020682", "name": "proteodermatan sulfate, defective biosynthesis of" }, { "id": "MONDO:0020682", "name": "xylosylprotein 4-Beta-galactosyltransferase deficiency" }, { "id": "MIM:130070", "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080738", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Human;Mouse;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080739", "disease_id": "DOID:0080739", "recommended_name": "Ehlers-Danlos syndrome spondylodysplastic type 3", "synonyms": [ { "id": "MONDO:0012873", "name": "Ehlers-Danlos syndrome, spondylocheirodysplastic type" }, { "id": "MONDO:0012873", "name": "EDS, spondylocheirodysplastic type" }, { "id": "MONDO:0012873", "name": "EDSSPD3" }, { "id": "MIM:612350", "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080739", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080743", "disease_id": "DOID:0080743", "recommended_name": "transverse myelitis", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080743", "snv_count": 0, "protein_count": 13, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.4, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080744", "disease_id": "DOID:0080744", "recommended_name": "antisynthetase syndrome", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080744", "snv_count": 0, "protein_count": 1, "glycan_count": 0, "biomarker_count": 3, "species_list": "Human", "biomarker_type": "", "biomarker_id": "BB3843-1;BB3844-1;BB3845-1", "hit_score": 0.2, "record_type": "disease", "filter_code": "0000000.101.000000000001000000" }, { "record_id": "doid.0080745", "disease_id": "DOID:0080745", "recommended_name": "polymyositis", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080745", "snv_count": 0, "protein_count": 57, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 5.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080746", "disease_id": "DOID:0080746", "recommended_name": "Sweet syndrome", "synonyms": [ { "id": "DOID:0080746", "name": "Acute Febrile Neutrophilic Dermatosis" }, { "id": "DOID:0080746", "name": "Sweet's syndrome" }, { "id": "MONDO:0011959", "name": "sweet syndrome" }, { "id": "MONDO:0011959", "name": "acute febrile neutrophilic dermatosis" }, { "id": "MONDO:0011959", "name": "sweet syndrome" }, { "id": "MONDO:0011959", "name": "Gomm button disease" }, { "id": "MIM:608068", "name": "Pyrin-associated autoinflammatory disease" } ], "record_url": "http://disease-ontology.org/term/DOID:0080746", "snv_count": 0, "protein_count": 12, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.3, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080750", "disease_id": "DOID:0080750", "recommended_name": "erythema nodosum", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080750", "snv_count": 0, "protein_count": 59, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 6.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080751", "disease_id": "DOID:0080751", "recommended_name": "keratosis pilaris atrophicans", "synonyms": [ { "id": "MONDO:0018855", "name": "keratosis pilaris atrophicans" }, { "id": "MONDO:0018855", "name": "keratosis pilaris atrophicans" }, { "id": "MONDO:0018855", "name": "Atrophodermia reticulata" }, { "id": "MONDO:0018855", "name": "Atrophodermia reticulata symmetrica faciei" }, { "id": "MONDO:0018855", "name": "Atrophodermia vermiculata" }, { "id": "MONDO:0018855", "name": "KPA" }, { "id": "MONDO:0018855", "name": "amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2" }, { "id": "MONDO:0018855", "name": "burnett Schwartz Berberian syndrome" }, { "id": "MONDO:0018855", "name": "folliculitis ulerythematosa" }, { "id": "MONDO:0018855", "name": "folliculitis ulerythematosa reticulata" }, { "id": "MONDO:0018855", "name": "honeycomb atrophy" }, { "id": "MONDO:0018855", "name": "keratosis pilaris" }, { "id": "MONDO:0018855", "name": "keratosis pilaris atrophicans facies" }, { "id": "MONDO:0018855", "name": "ulerythema ophryogenes" }, { "id": "MONDO:0018855", "name": "ulerythema ophryogenes with multiple congenital anomalies" }, { "id": "MONDO:0018855", "name": "ulerythema ophryogenesis" }, { "id": "MIM:604093", "name": "Keratosis pilaris atrophicans" } ], "record_url": "http://disease-ontology.org/term/DOID:0080751", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080753", "disease_id": "DOID:0080753", "recommended_name": "keratosis follicularis spinulosa decalvans", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080753", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080754", "disease_id": "DOID:0080754", "recommended_name": "X-linked keratosis follicularis spinulosa decalvans", "synonyms": [ { "id": "MONDO:0010637", "name": "keratosis follicularis spinulosa decalvans, X-linked" }, { "id": "MONDO:0010637", "name": "keratosis follicularis spinulosa decalvans, X-linked" }, { "id": "MONDO:0010637", "name": "keratosis follicularis spinulosa decalvans, X-linked, X-linked recessive" }, { "id": "MONDO:0010637", "name": "KFSDX" }, { "id": "MONDO:0010637", "name": "Kfsdx" }, { "id": "MONDO:0010637", "name": "keratosis follicularis spinulosa decalvans" }, { "id": "MONDO:0010637", "name": "keratosis follicularis spinulosa decalvans cum ophiasi" }, { "id": "MIM:308800", "name": "Keratosis follicularis spinulosa decalvans X-linked" } ], "record_url": "http://disease-ontology.org/term/DOID:0080754", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080757", "disease_id": "DOID:0080757", "recommended_name": "Fanconi renotubular syndrome 1", "synonyms": [ { "id": "MONDO:0024525", "name": "Fanconi renotubular syndrome 1" }, { "id": "MONDO:0024525", "name": "DeToni-Debr-Fanconi syndrome" }, { "id": "MONDO:0024525", "name": "FRTS1" }, { "id": "MONDO:0024525", "name": "Fanconi renotubular syndrome 1" }, { "id": "MONDO:0024525", "name": "primary Fanconi renal syndrome" }, { "id": "MONDO:0024525", "name": "primary Fanconi renotubular syndrome" }, { "id": "MIM:134600", "name": "Fanconi renotubular syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080757", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080758", "disease_id": "DOID:0080758", "recommended_name": "Fanconi renotubular syndrome 2", "synonyms": [ { "id": "MONDO:0013247", "name": "Fanconi renotubular syndrome 2" }, { "id": "MONDO:0013247", "name": "Fanconi renotubular syndrome 2" }, { "id": "MONDO:0013247", "name": "Fanconi renotubular syndrome type 2" }, { "id": "MONDO:0013247", "name": "Fanconi syndrome caused by mutation in SLC34A1" }, { "id": "MONDO:0013247", "name": "SLC34A1 Fanconi syndrome" }, { "id": "MONDO:0013247", "name": "FRTS2" }, { "id": "MIM:613388", "name": "Fanconi renotubular syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080758", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080759", "disease_id": "DOID:0080759", "recommended_name": "Fanconi renotubular syndrome 3", "synonyms": [ { "id": "MONDO:0014275", "name": "Fanconi renotubular syndrome 3" }, { "id": "MONDO:0014275", "name": "EHHADH Fanconi syndrome" }, { "id": "MONDO:0014275", "name": "Fanconi renotubular syndrome 3" }, { "id": "MONDO:0014275", "name": "Fanconi renotubular syndrome type 3" }, { "id": "MONDO:0014275", "name": "Fanconi syndrome caused by mutation in EHHADH" }, { "id": "MONDO:0014275", "name": "FRTS3" }, { "id": "MIM:615605", "name": "Fanconi renotubular syndrome 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080759", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080760", "disease_id": "DOID:0080760", "recommended_name": "Fanconi renotubular syndrome 4", "synonyms": [ { "id": "MONDO:0014458", "name": "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" }, { "id": "MONDO:0014458", "name": "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" }, { "id": "MONDO:0014458", "name": "Fanconi syndrome caused by mutation in HNF4A" }, { "id": "MONDO:0014458", "name": "HNF4A Fanconi syndrome" }, { "id": "MONDO:0014458", "name": "fanconi renotubular syndrome 4, with maturity-onset diabetes of the young" }, { "id": "MONDO:0014458", "name": "FRTS4" }, { "id": "MIM:616026", "name": "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" } ], "record_url": "http://disease-ontology.org/term/DOID:0080760", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080761", "disease_id": "DOID:0080761", "recommended_name": "Fanconi renotubular syndrome 5", "synonyms": [ { "id": "DOID:0080761", "name": "Acadian-variant Fanconi syndrome" }, { "id": "MONDO:0030056", "name": "Fanconi renotubular syndrome 5" }, { "id": "MONDO:0030056", "name": "FANCONI RENOTUBULAR SYNDROME 5" }, { "id": "MONDO:0030056", "name": "FRTS5" }, { "id": "MONDO:0030056", "name": "Fanconi Renotubular Syndrome, Acadian Variant" }, { "id": "MONDO:0030056", "name": "Fanconi renotubular syndrome 5" }, { "id": "MIM:618913", "name": "Fanconi renotubular syndrome 5" } ], "record_url": "http://disease-ontology.org/term/DOID:0080761", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080762", "disease_id": "DOID:0080762", "recommended_name": "autosomal recessive limb-girdle muscular dystrophy type 2Z", "synonyms": [ { "id": "DOID:0080762", "name": "limb-girdle muscular dystrophy 21" }, { "id": "MONDO:0014977", "name": "autosomal recessive limb-girdle muscular dystrophy type 2R1" }, { "id": "MONDO:0014977", "name": "LGMD2Z" }, { "id": "MONDO:0014977", "name": "POGLUT1 autosomal recessive limb-girdle muscular dystrophy" }, { "id": "MONDO:0014977", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1" }, { "id": "MONDO:0014977", "name": "autosomal recessive limb-girdle muscular dystrophy type 2Z" }, { "id": "MONDO:0014977", "name": "limb-girdle muscular dystrophy type 2Z" }, { "id": "MONDO:0014977", "name": "muscular dystrophy, limb-girdle, autosomal recessive 21" }, { "id": "MONDO:0014977", "name": "muscular dystrophy, limb-girdle, type 2Z" }, { "id": "MIM:617232", "name": "Muscular dystrophy, limb-girdle, autosomal recessive 21" } ], "record_url": "http://disease-ontology.org/term/DOID:0080762", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080763", "disease_id": "DOID:0080763", "recommended_name": "diffuse gastric cancer", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080763", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080764", "disease_id": "DOID:0080764", "recommended_name": "hereditary diffuse gastric cancer", "synonyms": [ { "id": "MONDO:0100488", "name": "CDH1-related diffuse gastric and lobular breast cancer syndrome" }, { "id": "MONDO:0100488", "name": "DGLBC" }, { "id": "MONDO:0100488", "name": "HDGC" }, { "id": "MONDO:0100488", "name": "LBC" }, { "id": "MONDO:0100488", "name": "diffuse gastric and lobular breast cancer syndrome" }, { "id": "MONDO:0100488", "name": "gastric cancer, familial diffuse breast cancer, lobular" }, { "id": "MONDO:0100488", "name": "gastric cancer, hereditary diffuse" }, { "id": "MIM:137215", "name": "Diffuse gastric and lobular breast cancer syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080764", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080765", "disease_id": "DOID:0080765", "recommended_name": "autosomal recessive intellectual developmental disorder 72", "synonyms": [ { "id": "DOID:0080765", "name": "autosomal recessive intellectual developmental disorder-72" }, { "id": "DOID:0080765", "name": "autosomal recessive mental retardation 72" }, { "id": "MONDO:0032860", "name": "intellectual developmental disorder, autosomal recessive 72" }, { "id": "MONDO:0032860", "name": "MRT72" }, { "id": "MIM:618665", "name": "Intellectual developmental disorder, autosomal recessive 72" } ], "record_url": "http://disease-ontology.org/term/DOID:0080765", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080766", "disease_id": "DOID:0080766", "recommended_name": "erythrokeratodermia variabilis et progressiva 6", "synonyms": [ { "id": "MONDO:0032801", "name": "erythrokeratodermia variabilis et progressiva 6" }, { "id": "MONDO:0032801", "name": "EKVP6" }, { "id": "MIM:618531", "name": "Erythrokeratodermia variabilis et progressiva 6" } ], "record_url": "http://disease-ontology.org/term/DOID:0080766", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080768", "disease_id": "DOID:0080768", "recommended_name": "pyridoxine-dependent epilepsy", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080768", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080769", "disease_id": "DOID:0080769", "recommended_name": "early-onset vitamin B6-dependent epilepsy 1", "synonyms": [ { "id": "DOID:0080769", "name": "EPEO1" }, { "id": "DOID:0080769", "name": "PDE-PLPBP" }, { "id": "MONDO:0015005", "name": "epilepsy, early-onset, vitamin B6-dependent" }, { "id": "MONDO:0015005", "name": "EPVB6D" }, { "id": "MONDO:0015005", "name": "epilepsy, early-onset, vitamin B6-dependent" }, { "id": "MONDO:0015005", "name": "epilepsy, early-onset, vitamin B6-dependent; EPVB6D" }, { "id": "MIM:617290", "name": "Epilepsy, early-onset, 1, vitamin B6-dependent" } ], "record_url": "http://disease-ontology.org/term/DOID:0080769", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080770", "disease_id": "DOID:0080770", "recommended_name": "autosomal dominant beta thalassemia", "synonyms": [ { "id": "DOID:0080770", "name": "inclusion body beta-thalassemia" }, { "id": "MONDO:0011381", "name": "dominant beta-thalassemia" }, { "id": "MONDO:0011381", "name": "inclusion body beta-thalassemia" }, { "id": "MONDO:0011381", "name": "thalassemia-beta, dominant inclusion-body" }, { "id": "MIM:603902", "name": "Beta-thalassemia, dominant, inclusion body type" } ], "record_url": "http://disease-ontology.org/term/DOID:0080770", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080771", "disease_id": "DOID:0080771", "recommended_name": "beta-thalassemia major", "synonyms": [ { "id": "DOID:0080771", "name": "Cooley's anemia" } ], "record_url": "http://disease-ontology.org/term/DOID:0080771", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Rat;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080773", "disease_id": "DOID:0080773", "recommended_name": "delta beta-thalassemia", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080773", "snv_count": 0, "protein_count": 12, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.3, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080776", "disease_id": "DOID:0080776", "recommended_name": "partial androgen insensitivity syndrome", "synonyms": [ { "id": "DOID:0080776", "name": "Reifenstein syndrome" }, { "id": "MONDO:0010720", "name": "partial androgen insensitivity syndrome" }, { "id": "MONDO:0010720", "name": "PAIS" }, { "id": "MONDO:0010720", "name": "Reifenstein syndrome" }, { "id": "MONDO:0010720", "name": "Reifenstein syndrome, partial" }, { "id": "MONDO:0010720", "name": "androgen insensitivity, partial" }, { "id": "MONDO:0010720", "name": "androgen insensitivity, partial, with or without breast cancer" }, { "id": "MONDO:0010720", "name": "androgen insensitivity, partial, with or without breast cancer, X-linked recessive" }, { "id": "MONDO:0010720", "name": "familial incomplete Male pseudohermaphroditism, type 1" }, { "id": "MONDO:0010720", "name": "pais" }, { "id": "MONDO:0010720", "name": "partial androgen resistance syndrome" }, { "id": "MONDO:0010720", "name": "pseudohermaphroditism, incomplete male, type I" }, { "id": "MONDO:0010720", "name": "androgen insensitivity syndrome, partial" }, { "id": "MONDO:0010720", "name": "androgen resistance syndrome, partial" }, { "id": "MONDO:0010720", "name": "incomplete male pseudohermaphroditism" }, { "id": "MONDO:0010720", "name": "type I familial incomplete male pseudohermaphroditism" }, { "id": "MONDO:0010720", "name": "partial androgen insensitivity syndrome" }, { "id": "MONDO:0010720", "name": "PAIS" }, { "id": "MONDO:0010720", "name": "Reifenstein syndrome" }, { "id": "MONDO:0010720", "name": "Reifenstein syndrome, partial" }, { "id": "MONDO:0010720", "name": "androgen insensitivity, partial" }, { "id": "MONDO:0010720", "name": "androgen insensitivity, partial, with or without breast cancer" }, { "id": "MONDO:0010720", "name": "androgen insensitivity, partial, with or without breast cancer, X-linked recessive" }, { "id": "MONDO:0010720", "name": "familial incomplete Male pseudohermaphroditism, type 1" }, { "id": "MONDO:0010720", "name": "pais" }, { "id": "MONDO:0010720", "name": "partial androgen resistance syndrome" }, { "id": "MONDO:0010720", "name": "pseudohermaphroditism, incomplete male, type I" }, { "id": "MONDO:0010720", "name": "androgen insensitivity syndrome, partial" }, { "id": "MONDO:0010720", "name": "androgen resistance syndrome, partial" }, { "id": "MONDO:0010720", "name": "incomplete male pseudohermaphroditism" }, { "id": "MONDO:0010720", "name": "type I familial incomplete male pseudohermaphroditism" }, { "id": "MONDO:0010720", "name": "partial androgen insensitivity syndrome" }, { "id": "MONDO:0010720", "name": "PAIS" }, { "id": "MONDO:0010720", "name": "Reifenstein syndrome" }, { "id": "MONDO:0010720", "name": "Reifenstein syndrome, partial" }, { "id": "MONDO:0010720", "name": "androgen insensitivity, partial" }, { "id": "MONDO:0010720", "name": "androgen insensitivity, partial, with or without breast cancer" }, { "id": "MONDO:0010720", "name": "androgen insensitivity, partial, with or without breast cancer, X-linked recessive" }, { "id": "MONDO:0010720", "name": "familial incomplete Male pseudohermaphroditism, type 1" }, { "id": "MONDO:0010720", "name": "pais" }, { "id": "MONDO:0010720", "name": "partial androgen resistance syndrome" }, { "id": "MONDO:0010720", "name": "pseudohermaphroditism, incomplete male, type I" }, { "id": "MONDO:0010720", "name": "androgen insensitivity syndrome, partial" }, { "id": "MONDO:0010720", "name": "androgen resistance syndrome, partial" }, { "id": "MONDO:0010720", "name": "incomplete male pseudohermaphroditism" }, { "id": "MONDO:0010720", "name": "type I familial incomplete male pseudohermaphroditism" }, { "id": "MIM:312300", "name": "Androgen insensitivity, partial" } ], "record_url": "http://disease-ontology.org/term/DOID:0080776", "snv_count": 0, "protein_count": 3, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.4, "record_type": "disease", "filter_code": "0000000.100.000000000001101000" }, { "record_id": "doid.0080778", "disease_id": "DOID:0080778", "recommended_name": "transient infantile liver failure", "synonyms": [ { "id": "MONDO:0013111", "name": "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" }, { "id": "MONDO:0013111", "name": "acute infantile liver failure" }, { "id": "MONDO:0013111", "name": "LFIT" }, { "id": "MONDO:0013111", "name": "TRMU infantile liver failure" }, { "id": "MONDO:0013111", "name": "acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins" }, { "id": "MONDO:0013111", "name": "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" }, { "id": "MONDO:0013111", "name": "infantile liver failure caused by mutation in TRMU" }, { "id": "MONDO:0013111", "name": "liver failure, infantile, transient" }, { "id": "MONDO:0013111", "name": "liver failure, transient infantile" }, { "id": "MONDO:0013111", "name": "transient infantile liver failure" }, { "id": "MIM:613070", "name": "Liver failure, infantile, transient" } ], "record_url": "http://disease-ontology.org/term/DOID:0080778", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080784", "disease_id": "DOID:0080784", "recommended_name": "urinary tract infection", "synonyms": [ { "id": "DOID:0080784", "name": "UTI" } ], "record_url": "http://disease-ontology.org/term/DOID:0080784", "snv_count": 0, "protein_count": 42, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 4.3, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080785", "disease_id": "DOID:0080785", "recommended_name": "Brown-Vialetto-Van Laere syndrome 1", "synonyms": [ { "id": "MONDO:0024537", "name": "Brown-Vialetto-van Laere syndrome 1" }, { "id": "MONDO:0024537", "name": "Brown-Vialetto-Van Laere syndrome 1" }, { "id": "MONDO:0024537", "name": "Brown-Vialetto-van Laere syndrome 1" }, { "id": "MONDO:0024537", "name": "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3" }, { "id": "MONDO:0024537", "name": "RTD2" }, { "id": "MONDO:0024537", "name": "Riboflavin transporter deficiency 2" }, { "id": "MONDO:0024537", "name": "SLC52A3 Brown-Vialetto-van Laere syndrome" }, { "id": "MONDO:0024537", "name": "rfvt2-related riboflavin transporter deficiency" }, { "id": "MONDO:0024537", "name": "BVVLS1" }, { "id": "MIM:211530", "name": "Brown-Vialetto-Van Laere syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080785", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080786", "disease_id": "DOID:0080786", "recommended_name": "Brown-Vialetto-Van Laere syndrome 2", "synonyms": [ { "id": "DOID:0080786", "name": "spinocerebellar ataxia with blindness and deafness 2" }, { "id": "DOID:0080786", "name": "SCABD2" }, { "id": "MONDO:0013867", "name": "Brown-Vialetto-van Laere syndrome 2" }, { "id": "MONDO:0013867", "name": "BVVLS2" }, { "id": "MONDO:0013867", "name": "Brown-Vialetto-Van Laere syndrome type 2" }, { "id": "MONDO:0013867", "name": "Brown-Vialetto-van Laere syndrome 2" }, { "id": "MONDO:0013867", "name": "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2" }, { "id": "MONDO:0013867", "name": "SLC52A2 Brown-Vialetto-van Laere syndrome" }, { "id": "MIM:614707", "name": "Brown-Vialetto-Van Laere syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080786", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080787", "disease_id": "DOID:0080787", "recommended_name": "proximal symphalangism 1", "synonyms": [ { "id": "MONDO:0020733", "name": "proximal symphalangism 1A" }, { "id": "MONDO:0020733", "name": "SYM1A" }, { "id": "MONDO:0020733", "name": "symphalangism, proximal, 1A" }, { "id": "MONDO:0020733", "name": "symphalangism, proximal, type 1A" }, { "id": "MIM:185800", "name": "Symphalangism, proximal 1A" } ], "record_url": "http://disease-ontology.org/term/DOID:0080787", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080788", "disease_id": "DOID:0080788", "recommended_name": "proximal symphalangism 2", "synonyms": [ { "id": "MONDO:0014125", "name": "symphalangism, proximal, 1B" }, { "id": "MONDO:0014125", "name": "GDF5 proximal symphalangism (disease)" }, { "id": "MONDO:0014125", "name": "proximal symphalangism (disease) caused by mutation in GDF5" }, { "id": "MONDO:0014125", "name": "symphalangism, proximal, 1B" }, { "id": "MONDO:0014125", "name": "symphalangism, proximal, type 1B" }, { "id": "MONDO:0014125", "name": "SYM1B" }, { "id": "MIM:615298", "name": "Symphalangism, proximal 1B" } ], "record_url": "http://disease-ontology.org/term/DOID:0080788", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080789", "disease_id": "DOID:0080789", "recommended_name": "Treacher Collins syndrome 1", "synonyms": [ { "id": "MONDO:0007944", "name": "Treacher Collins syndrome 1" }, { "id": "MONDO:0007944", "name": "TCOF1 Treacher-Collins syndrome" }, { "id": "MONDO:0007944", "name": "Treacher Collins syndrome type 1" }, { "id": "MONDO:0007944", "name": "Treacher-Collins syndrome 1" }, { "id": "MONDO:0007944", "name": "Treacher-Collins syndrome caused by mutation in TCOF1" }, { "id": "MONDO:0007944", "name": "TCS1" }, { "id": "MONDO:0007944", "name": "TREACHER COLLINS syndrome 1" }, { "id": "MIM:154500", "name": "Treacher Collins syndrome 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080789", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080790", "disease_id": "DOID:0080790", "recommended_name": "Treacher Collins syndrome 2", "synonyms": [ { "id": "MONDO:0013385", "name": "Treacher Collins syndrome 2" }, { "id": "MONDO:0013385", "name": "POLR1D Treacher-Collins syndrome" }, { "id": "MONDO:0013385", "name": "Treacher Collins syndrome 2" }, { "id": "MONDO:0013385", "name": "Treacher Collins syndrome type 2" }, { "id": "MONDO:0013385", "name": "Treacher-Collins syndrome caused by mutation in POLR1D" }, { "id": "MONDO:0013385", "name": "TCS2" }, { "id": "MIM:613717", "name": "Treacher Collins syndrome 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080790", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080791", "disease_id": "DOID:0080791", "recommended_name": "Treacher Collins syndrome 3", "synonyms": [ { "id": "MONDO:0009558", "name": "Treacher Collins syndrome 3" }, { "id": "MONDO:0009558", "name": "POLR1C Treacher-Collins syndrome" }, { "id": "MONDO:0009558", "name": "Treacher Collins syndrome 3" }, { "id": "MONDO:0009558", "name": "Treacher Collins syndrome type 3" }, { "id": "MONDO:0009558", "name": "Treacher-Collins syndrome caused by mutation in POLR1C" }, { "id": "MONDO:0009558", "name": "TCS3" }, { "id": "MIM:248390", "name": "Treacher Collins syndrome 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080791", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001100010" }, { "record_id": "doid.0080792", "disease_id": "DOID:0080792", "recommended_name": "Treacher Collins syndrome 4", "synonyms": [ { "id": "MONDO:0030067", "name": "Treacher Collins syndrome 4" }, { "id": "MONDO:0030067", "name": "TCS4" }, { "id": "MONDO:0030067", "name": "TREACHER COLLINS SYNDROME 4" }, { "id": "MONDO:0030067", "name": "Treacher-Collins syndrome 4" }, { "id": "MONDO:0030067", "name": "treacher collins syndrome 4" }, { "id": "MIM:618939", "name": "Treacher Collins syndrome 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080792", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080797", "disease_id": "DOID:0080797", "recommended_name": "nasal type extranodal NK/T-cell lymphoma", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080797", "snv_count": 0, "protein_count": 31, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 3.2, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080798", "disease_id": "DOID:0080798", "recommended_name": "myeloid leukemia associated with Down Syndrome", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080798", "snv_count": 0, "protein_count": 9, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.0, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080799", "disease_id": "DOID:0080799", "recommended_name": "sinonasal undifferentiated carcinoma", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080799", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080801", "disease_id": "DOID:0080801", "recommended_name": "autosomal dominant craniometaphyseal dysplasia", "synonyms": [ { "id": "MONDO:0007397", "name": "craniometaphyseal dysplasia, autosomal dominant" }, { "id": "MONDO:0007397", "name": "craniometaphyseal dysplasia, autosomal dominant" }, { "id": "MONDO:0007397", "name": "CMD" }, { "id": "MONDO:0007397", "name": "CMDD" }, { "id": "MONDO:0007397", "name": "CMDJ" }, { "id": "MONDO:0007397", "name": "craniometaphyseal dysplasia Jackson type" }, { "id": "MIM:123000", "name": "Craniometaphyseal dysplasia, autosomal dominant" } ], "record_url": "http://disease-ontology.org/term/DOID:0080801", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080802", "disease_id": "DOID:0080802", "recommended_name": "autosomal recessive craniometaphyseal dysplasia", "synonyms": [ { "id": "MONDO:0009035", "name": "craniometaphyseal dysplasia, autosomal recessive" }, { "id": "MONDO:0009035", "name": "autosomal recessive craniometaphyseal dysplasia" }, { "id": "MONDO:0009035", "name": "craniometaphyseal dysplasia, autosomal recessive" }, { "id": "MONDO:0009035", "name": "CMDR" }, { "id": "MONDO:0009035", "name": "craniometaphyseal dysplasia, autosomal recessive type" }, { "id": "MIM:218400", "name": "Craniometaphyseal dysplasia, autosomal recessive" } ], "record_url": "http://disease-ontology.org/term/DOID:0080802", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080803", "disease_id": "DOID:0080803", "recommended_name": "cranioectodermal dysplasia 1", "synonyms": [ { "id": "MONDO:0021093", "name": "cranioectodermal dysplasia 1" }, { "id": "MONDO:0021093", "name": "Sensenbrenner syndrome" }, { "id": "MONDO:0021093", "name": "CED1" }, { "id": "MONDO:0021093", "name": "IFT122 cranioectodermal dysplasia" }, { "id": "MONDO:0021093", "name": "cranioectodermal dysplasia 1" }, { "id": "MONDO:0021093", "name": "cranioectodermal dysplasia caused by mutation in IFT122" }, { "id": "MONDO:0021093", "name": "cranioectodermal dysplasia type 1" }, { "id": "MIM:218330", "name": "Cranioectodermal dysplasia 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080803", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080804", "disease_id": "DOID:0080804", "recommended_name": "cranioectodermal dysplasia 2", "synonyms": [ { "id": "MONDO:0013323", "name": "cranioectodermal dysplasia 2" }, { "id": "MONDO:0013323", "name": "Cranioectodermal dysplasia type 2" }, { "id": "MONDO:0013323", "name": "WDR35 cranioectodermal dysplasia" }, { "id": "MONDO:0013323", "name": "WDR35-related cranioectodermal dysplasia" }, { "id": "MONDO:0013323", "name": "cranioectodermal dysplasia 2" }, { "id": "MONDO:0013323", "name": "cranioectodermal dysplasia caused by mutation in WDR35" }, { "id": "MONDO:0013323", "name": "CED2" }, { "id": "MIM:613610", "name": "Cranioectodermal dysplasia 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080804", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080805", "disease_id": "DOID:0080805", "recommended_name": "cranioectodermal dysplasia 3", "synonyms": [ { "id": "MONDO:0013573", "name": "cranioectodermal dysplasia 3" }, { "id": "MONDO:0013573", "name": "Cranioectodermal dysplasia type 3" }, { "id": "MONDO:0013573", "name": "IFT43 cranioectodermal dysplasia" }, { "id": "MONDO:0013573", "name": "cranioectodermal dysplasia 3" }, { "id": "MONDO:0013573", "name": "cranioectodermal dysplasia caused by mutation in IFT43" }, { "id": "MONDO:0013573", "name": "CED3" }, { "id": "MIM:614099", "name": "Cranioectodermal dysplasia 3" } ], "record_url": "http://disease-ontology.org/term/DOID:0080805", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080806", "disease_id": "DOID:0080806", "recommended_name": "cranioectodermal dysplasia 4", "synonyms": [ { "id": "MONDO:0013719", "name": "cranioectodermal dysplasia 4" }, { "id": "MONDO:0013719", "name": "cranioectodermal dysplasia 4" }, { "id": "MONDO:0013719", "name": "cranioectodermal dysplasia type 4" }, { "id": "MONDO:0013719", "name": "CED4" }, { "id": "MIM:614378", "name": "Cranioectodermal dysplasia 4" } ], "record_url": "http://disease-ontology.org/term/DOID:0080806", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080807", "disease_id": "DOID:0080807", "recommended_name": "autosomal dominant craniodiaphyseal dysplasia", "synonyms": [ { "id": "MONDO:0021021", "name": "craniodiaphyseal dysplasia, autosomal dominant" }, { "id": "MONDO:0021021", "name": "CDD" }, { "id": "MONDO:0021021", "name": "craniodiaphyseal dysplasia, autosomal dominant" }, { "id": "MONDO:0021021", "name": "Schaefer Stein Oshman syndrome" }, { "id": "MONDO:0021021", "name": "craniodiaphyseal dysplasia, dominant" }, { "id": "MONDO:0021021", "name": "dominantly inherited craniodiaphyseal dysplasia" }, { "id": "MIM:122860", "name": "Craniodiaphyseal dysplasia autosomal dominant" } ], "record_url": "http://disease-ontology.org/term/DOID:0080807", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080809", "disease_id": "DOID:0080809", "recommended_name": "chronic asthma", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080809", "snv_count": 0, "protein_count": 11, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.2, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080810", "disease_id": "DOID:0080810", "recommended_name": "acute asthma", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080810", "snv_count": 0, "protein_count": 11, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.2, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080815", "disease_id": "DOID:0080815", "recommended_name": "childhood-onset asthma", "synonyms": [ { "id": "DOID:0080815", "name": "childhood asthma" } ], "record_url": "http://disease-ontology.org/term/DOID:0080815", "snv_count": 0, "protein_count": 118, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 11.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080820", "disease_id": "DOID:0080820", "recommended_name": "occupational asthma", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080820", "snv_count": 0, "protein_count": 37, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 3.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080821", "disease_id": "DOID:0080821", "recommended_name": "exercise-induced bronchoconstriction", "synonyms": [ { "id": "DOID:0080821", "name": "exercise-induced asthma" } ], "record_url": "http://disease-ontology.org/term/DOID:0080821", "snv_count": 0, "protein_count": 17, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080822", "disease_id": "DOID:0080822", "recommended_name": "aspirin-induced respiratory disease", "synonyms": [ { "id": "DOID:0080822", "name": "aspirin-sensitive asthma" } ], "record_url": "http://disease-ontology.org/term/DOID:0080822", "snv_count": 0, "protein_count": 94, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 9.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" }, { "record_id": "doid.0080826", "disease_id": "DOID:0080826", "recommended_name": "nocturnal asthma", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080826", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080827", "disease_id": "DOID:0080827", "recommended_name": "human cytomegalovirus infection", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080827", "snv_count": 0, "protein_count": 13, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.4, "record_type": "disease", "filter_code": "0000000.100.000000100001101010" }, { "record_id": "doid.0080828", "disease_id": "DOID:0080828", "recommended_name": "VEXAS syndrome", "synonyms": [ { "id": "DOID:0080828", "name": "vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome" }, { "id": "MONDO:0026777", "name": "VEXAS syndrome" }, { "id": "MONDO:0026777", "name": "VEXAS" }, { "id": "MONDO:0026777", "name": "VEXAS syndrome, somatic" }, { "id": "MONDO:0026777", "name": "vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome" }, { "id": "MIM:301054", "name": "VEXAS syndrome" } ], "record_url": "http://disease-ontology.org/term/DOID:0080828", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000000001101011" }, { "record_id": "doid.0080832", "disease_id": "DOID:0080832", "recommended_name": "mild cognitive impairment", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080832", "snv_count": 0, "protein_count": 17, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.8, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080836", "disease_id": "DOID:0080836", "recommended_name": "growth hormone insensitivity syndrome with immune dysregulation 1", "synonyms": [ { "id": "MONDO:0100211", "name": "growth hormone insensitivity with immune dysregulation 1, autosomal recessive" }, { "id": "MONDO:0100211", "name": "Laron syndrome due to postreceptor defect" }, { "id": "MONDO:0100211", "name": "Laron syndrome with immunodeficiency" }, { "id": "MONDO:0100211", "name": "Laron-like syndrome" }, { "id": "MONDO:0100211", "name": "growth hormone insensitivity due to postreceptor defect" }, { "id": "MONDO:0100211", "name": "short stature due to STAT5b deficiency" }, { "id": "MIM:245590", "name": "Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive" } ], "record_url": "http://disease-ontology.org/term/DOID:0080836", "snv_count": 0, "protein_count": 10, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 1.1, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080837", "disease_id": "DOID:0080837", "recommended_name": "growth hormone insensitivity syndrome with immune dysregulation 2", "synonyms": [ { "id": "MONDO:0100219", "name": "growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant" }, { "id": "MONDO:0100219", "name": "GHISID2" }, { "id": "MONDO:0100219", "name": "GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT" }, { "id": "MONDO:0100219", "name": "growth hormone insensitivity with immune dysregulation 2, autosomal dominant" }, { "id": "MIM:618985", "name": "Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant" } ], "record_url": "http://disease-ontology.org/term/DOID:0080837", "snv_count": 0, "protein_count": 6, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.7, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080839", "disease_id": "DOID:0080839", "recommended_name": "X-linked warfarin sensitivity", "synonyms": [ { "id": "MONDO:0026768", "name": "obsolete warfarin sensitivity, X-linked" }, { "id": "MONDO:0026768", "name": "Warfarin sensitivity" }, { "id": "MIM:301052", "name": "Warfarin sensitivity, X-linked" } ], "record_url": "http://disease-ontology.org/term/DOID:0080839", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000000001101001" }, { "record_id": "doid.0080840", "disease_id": "DOID:0080840", "recommended_name": "optic atrophy 12", "synonyms": [ { "id": "MONDO:0033549", "name": "optic atrophy 12" }, { "id": "MONDO:0033549", "name": "OPA12" }, { "id": "MIM:618977", "name": "Optic atrophy 12" } ], "record_url": "http://disease-ontology.org/term/DOID:0080840", "snv_count": 0, "protein_count": 7, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Yeast;Rat", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.8, "record_type": "disease", "filter_code": "0000000.100.000000000001101010" }, { "record_id": "doid.0080844", "disease_id": "DOID:0080844", "recommended_name": "omodysplasia 1", "synonyms": [ { "id": "MONDO:0009779", "name": "autosomal recessive omodysplasia" }, { "id": "MONDO:0009779", "name": "autosomal recessive omodysplasia" }, { "id": "MONDO:0009779", "name": "micromelic dysplasia-dislocation of radius syndrome" }, { "id": "MONDO:0009779", "name": "omodysplasia type 1" }, { "id": "MONDO:0009779", "name": "omodysplasia, autosomal recessive" }, { "id": "MONDO:0009779", "name": "OMOD1" }, { "id": "MONDO:0009779", "name": "micromelic dysplasia congenita with dislocation of radius" }, { "id": "MONDO:0009779", "name": "omodysplasia 1" }, { "id": "MONDO:0009779", "name": "omodysplasia autosomal recessive" }, { "id": "MONDO:0009779", "name": "omodysplasia generalised form" }, { "id": "MONDO:0009779", "name": "omodysplasia generalized form" }, { "id": "MONDO:0009779", "name": "omodysplasia, generalised form" }, { "id": "MIM:258315", "name": "Omodysplasia 1" } ], "record_url": "http://disease-ontology.org/term/DOID:0080844", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080845", "disease_id": "DOID:0080845", "recommended_name": "omodysplasia 2", "synonyms": [ { "id": "MONDO:0008123", "name": "autosomal dominant omodysplasia" }, { "id": "MONDO:0008123", "name": "omodysplasia, autosomal dominant" }, { "id": "MONDO:0008123", "name": "OMOD2" }, { "id": "MONDO:0008123", "name": "omodysplasia 2" }, { "id": "MIM:164745", "name": "Omodysplasia 2" } ], "record_url": "http://disease-ontology.org/term/DOID:0080845", "snv_count": 0, "protein_count": 4, "glycan_count": 0, "biomarker_count": 0, "species_list": "Mouse;Human;Rat;Fruit fly", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.5, "record_type": "disease", "filter_code": "0000000.100.000000100001101000" }, { "record_id": "doid.0080846", "disease_id": "DOID:0080846", "recommended_name": "latent autoimmune diabetes in adults", "synonyms": [ { "id": "DOID:0080846", "name": "LADA" }, { "id": "DOID:0080846", "name": "type 1.5 diabetes" } ], "record_url": "http://disease-ontology.org/term/DOID:0080846", "snv_count": 0, "protein_count": 5, "glycan_count": 0, "biomarker_count": 1, "species_list": "Mouse;Rat;Human", "biomarker_type": "risk", "biomarker_id": "AN6278-3", "hit_score": 0.6, "record_type": "disease", "filter_code": "0000100.101.000000000001101000" }, { "record_id": "doid.0080849", "disease_id": "DOID:0080849", "recommended_name": "ocular motor apraxia, Cogan type", "synonyms": [ { "id": "MONDO:0009764", "name": "ocular motor apraxia, Cogan type" }, { "id": "MONDO:0009764", "name": "oculomotor apraxia, Cogan type" }, { "id": "MONDO:0009764", "name": "oculomotor apraxia, congenital, Cogan-type" }, { "id": "MONDO:0009764", "name": "COMA" }, { "id": "MONDO:0009764", "name": "Cogan's syndrome type 2" }, { "id": "MONDO:0009764", "name": "congenital oculomotor apraxia" }, { "id": "MONDO:0009764", "name": "oculomotor apraxia Cogan type" }, { "id": "MONDO:0009764", "name": "saccade initiation failure congenital" } ], "record_url": "http://disease-ontology.org/term/DOID:0080849", "snv_count": 0, "protein_count": 8, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 0.9, "record_type": "disease", "filter_code": "0000000.100.000000100001101001" }, { "record_id": "doid.0080855", "disease_id": "DOID:0080855", "recommended_name": "Parkinsonism", "synonyms": [], "record_url": "http://disease-ontology.org/term/DOID:0080855", "snv_count": 0, "protein_count": 353, "glycan_count": 0, "biomarker_count": 0, "species_list": "Zebrafish;Mouse;Yeast;Rat;Fruit fly;Human", "biomarker_type": "", "biomarker_id": "", "hit_score": 35.4, "record_type": "disease", "filter_code": "0000000.100.000000100001101011" } ]