{ "id": 19070, "label": "retinitis pigmentosa", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019200", "properties": { "xrefs": [ "DOID:10584", "GARD:0005694", "MEDGEN:20551", "MESH:D012174", "MedDRA:10038914", "NANDO:1200431", "NCIT:C85045", "NORD:1661", "OMIM:268000", "OMIMPS:268000", "Orphanet:791", "SCTID:28835009", "UMLS:C0035334" ], "synonyms": [ "retinitis pigmentosa", "pericentral pigmentary retinopathy", "Rod-cone dystrophy" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." }, "isLeaf": false, "isRoot": false, "child_count": 101, "parents": [ { "id": 19000, "label": "inherited retinal dystrophy", "isLeaf": false, "isRoot": false, "parents": [ 6377, 21402, 24270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8500", "DOID:8501", "GARD:0018916", "HP:0000556", "ICD10CM:H35.5", "ICD9:362.7", "ICD9:362.70", "ICD9:362.72", "ICD9:362.75", "MEDGEN:208903", "MESH:D058499", "MedDRA:10038857", "NCIT:C35194", "NCIT:C35625", "Orphanet:71862", "SCTID:314407005", "SCTID:41799005", "UMLS:C0854723" ], "synonyms": [ "fundus dystrophy", "familial retinal dystrophy", "genetic retinal dystrophy", "hereditary retinal degeneration", "hereditary retinal dystrophy", "inherited retinal dystrophy", "retinal dystrophy" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome." }, "child_count": 315, "reference_id": "MONDO:0019118" } ], "children": [ { "id": 3183, "label": "retinitis pigmentosa 6", "isLeaf": true, "isRoot": false, "parents": [ 19070, 20040 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110413", "GARD:0010377", "MEDGEN:333305", "MESH:C564065", "OMIM:312612", "UMLS:C1839368" ], "synonyms": [ "RP6", "retinitis pigmentosa 6", "retinitis pigmentosa type 6", "RP 6", "retinitis pigmentosa, X-linked recessive, 6" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2." }, "child_count": 0, "reference_id": "MONDO:0000910" }, { "id": 8755, "label": "cone-rod dystrophy 2", "isLeaf": true, "isRoot": false, "parents": [ 16636, 19070, 29288 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111005", "GARD:0006145", "ICD9:362.75", "MEDGEN:483485", "NCIT:C162399", "OMIM:120970", "SCTID:80328002", "UMLS:C3489532" ], "synonyms": [ "CORD2", "CRD2", "CRX cone-rod dystrophy", "RCRD2", "cone-rod dystrophy 2", "cone-rod dystrophy caused by mutation in CRX", "cone-rod dystrophy type 2", "cone-rod retinal dystrophy-2", "cone-rod dystrophy", "cone-rod retinal dystrophy", "retinal cone-rod dystrophy" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene." }, "child_count": 0, "reference_id": "MONDO:0007362" }, { "id": 9676, "label": "retinitis pigmentosa 1", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110390", "GARD:0009149", "MEDGEN:67395", "MESH:C538365", "OMIM:180100", "UMLS:C0220701" ], "synonyms": [ "RP1", "RP1 retinitis pigmentosa", "retinitis pigmentosa 1", "retinitis pigmentosa caused by mutation in RP1", "retinitis pigmentosa type 1", "RP", "retinitis pigmentosa" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene." }, "child_count": 0, "reference_id": "MONDO:0008377" }, { "id": 9677, "label": "retinitis pigmentosa 9", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110387", "GARD:0010382", "MEDGEN:356743", "MESH:C566716", "OMIM:180104", "UMLS:C1867300" ], "synonyms": [ "RP9", "RP9 retinitis pigmentosa", "retinitis pigmentosa 9", "retinitis pigmentosa caused by mutation in RP9", "retinitis pigmentosa type 9", "RP 9" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene." }, "child_count": 0, "reference_id": "MONDO:0008378" }, { "id": 9678, "label": "retinitis pigmentosa 10", "isLeaf": true, "isRoot": false, "parents": [ 19070, 29281 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110388", "GARD:0015110", "MEDGEN:357247", "MESH:C566715", "OMIM:180105", "UMLS:C1867299" ], "synonyms": [ "IMPDH1 retinitis pigmentosa", "RP10", "retinitis pigmentosa 10", "retinitis pigmentosa caused by mutation in IMPDH1", "retinitis pigmentosa type 10" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene." }, "child_count": 0, "reference_id": "MONDO:0008379" }, { "id": 9680, "label": "dominant pericentral pigmentary retinopathy", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110420", "GARD:0015111", "MEDGEN:357237", "MESH:C566713", "OMIM:180210", "UMLS:C1867261" ], "synonyms": [ "retinopathy, pericentral pigmentary, dominant" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life." }, "child_count": 0, "reference_id": "MONDO:0008381" }, { "id": 11183, "label": "late-adult onset retinitis pigmentosa", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110421", "GARD:0015230", "MEDGEN:340316", "MESH:C564840", "OMIM:268025", "UMLS:C1849400" ], "synonyms": [ "retinitis pigmentosa, 'Senile'", "retinitis pigmentosa, late-ADULT onset" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life." }, "child_count": 0, "reference_id": "MONDO:0009984" }, { "id": 11186, "label": "autosomal recessive pericentral pigmentary retinopathy", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110422", "GARD:0015231", "MEDGEN:340314", "MESH:C564838", "OMIM:268060", "UMLS:C1849398" ], "synonyms": [ "retinitis pigmentosa, pericentral", "retinopathy, pericentral pigmentary, autosomal recessive" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy." }, "child_count": 0, "reference_id": "MONDO:0009987" }, { "id": 11405, "label": "retinitis pigmentosa 3", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24164 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110414", "GARD:0010381", "MEDGEN:336999", "MESH:C564520", "OMIM:300029", "UMLS:C1845667" ], "synonyms": [ "RP3", "RPGR retinitis pigmentosa", "retinitis pigmentosa 3", "retinitis pigmentosa caused by mutation in RPGR", "retinitis pigmentosa type 3", "Choroidoretinal Degeneration with retinal reflex in heterozygous Women", "cone-rod Degeneration, X-linked", "retinitis pigmentosa 15" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene." }, "child_count": 0, "reference_id": "MONDO:0010227" }, { "id": 11433, "label": "retinitis pigmentosa 24", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110416", "GARD:0010389", "MEDGEN:854690", "OMIM:300155", "UMLS:C3887982" ], "synonyms": [ "RP24", "retinitis pigmentosa 24", "retinitis pigmentosa type 24", "RP 24" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27." }, "child_count": 0, "reference_id": "MONDO:0010259" }, { "id": 11490, "label": "retinitis pigmentosa 23", "isLeaf": true, "isRoot": false, "parents": [ 19070, 20852, 29269 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110412", "GARD:0010391", "MEDGEN:238456", "OMIM:300424", "UMLS:C1419610" ], "synonyms": [ "OFD1 retinitis pigmentosa", "RP23", "retinitis pigmentosa 23", "retinitis pigmentosa 23, X-linked recessive", "retinitis pigmentosa caused by mutation in OFD1", "retinitis pigmentosa type 23", "RP 23" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene." }, "child_count": 0, "reference_id": "MONDO:0010320" }, { "id": 11538, "label": "retinitis pigmentosa 34", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110417", "GARD:0010390", "MEDGEN:375582", "MESH:C564475", "OMIM:300605", "UMLS:C1845104" ], "synonyms": [ "RP34", "retinitis pigmentosa 34", "retinitis pigmentosa type 34", "RP 34" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28." }, "child_count": 0, "reference_id": "MONDO:0010374" }, { "id": 11864, "label": "retinitis pigmentosa 2", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24169 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110415", "GARD:0010380", "MEDGEN:394544", "MESH:C567523", "OMIM:312600", "UMLS:C2681923" ], "synonyms": [ "RP2", "RP2 retinitis pigmentosa", "retinitis pigmentosa 2", "retinitis pigmentosa caused by mutation in RP2", "retinitis pigmentosa type 2" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene." }, "child_count": 0, "reference_id": "MONDO:0010723" }, { "id": 11900, "label": "retinitis pigmentosa Y-linked", "isLeaf": true, "isRoot": false, "parents": [ 2904, 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110418", "GARD:0015310", "MEDGEN:326805", "MESH:C564035", "OMIM:400004", "UMLS:C1839079" ], "synonyms": [ "RPY", "Y-linked retinitis pigmentosa", "retinitis pigmentosa, Y-linked", "retinitis pigmentosa, Y-linked, Y-linked" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Y-linked form of retinitis pigmentosa." }, "child_count": 0, "reference_id": "MONDO:0010761" }, { "id": 11942, "label": "retinitis pigmentosa 13", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24629 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110403", "GARD:0010388", "MEDGEN:325486", "MESH:C564008", "OMIM:600059", "UMLS:C1838702" ], "synonyms": [ "PRPF8 retinitis pigmentosa", "RP13", "retinitis pigmentosa 13", "retinitis pigmentosa caused by mutation in PRPF8", "retinitis pigmentosa type 13", "RP 13" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene." }, "child_count": 0, "reference_id": "MONDO:0010806" }, { "id": 11954, "label": "retinitis pigmentosa 12", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110358", "GARD:0010376", "MEDGEN:374019", "MESH:C563999", "OMIM:600105", "UMLS:C1838647" ], "synonyms": [ "CRB1 retinitis pigmentosa", "RP12", "retinitis pigmentosa 12", "retinitis pigmentosa caused by mutation in CRB1", "retinitis pigmentosa type 12", "retinitis pigmentosa-12", "RP 12", "RP with or without Pprpe", "RP with or without preserved Paraarteriole retinal pigment epithelium", "retinitis pigmentosa with or without Paraarteriolar preservation of retinal pigment epithelium" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene." }, "child_count": 0, "reference_id": "MONDO:0010818" }, { "id": 11963, "label": "retinitis pigmentosa 14", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110381", "GARD:0010385", "MEDGEN:325056", "OMIM:600132", "UMLS:C1838603" ], "synonyms": [ "RP14", "TULP1 retinitis pigmentosa", "retinitis pigmentosa 14", "retinitis pigmentosa caused by mutation in TULP1", "retinitis pigmentosa type 14", "RP 14" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene." }, "child_count": 0, "reference_id": "MONDO:0010827" }, { "id": 11964, "label": "retinitis pigmentosa 11", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24984 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110408", "GARD:0010383", "MEDGEN:325055", "MESH:C563991", "OMIM:600138", "UMLS:C1838601" ], "synonyms": [ "PRPF31 retinitis pigmentosa", "RP11", "retinitis pigmentosa 11", "retinitis pigmentosa caused by mutation in PRPF31", "retinitis pigmentosa type 11", "RP 11" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene." }, "child_count": 0, "reference_id": "MONDO:0010828" }, { "id": 12075, "label": "retinitis pigmentosa 17", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110404", "GARD:0010387", "MEDGEN:322153", "MESH:C563437", "OMIM:600852", "UMLS:C1833245" ], "synonyms": [ "CA4 retinitis pigmentosa", "RP17", "retinitis pigmentosa 17", "retinitis pigmentosa caused by mutation in CA4", "retinitis pigmentosa type 17", "RP 17" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa caused by duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1." }, "child_count": 0, "reference_id": "MONDO:0010945" }, { "id": 12201, "label": "retinitis pigmentosa 18", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110356", "GARD:0010392", "MEDGEN:371314", "MESH:C563320", "OMIM:601414", "UMLS:C1832378" ], "synonyms": [ "PRPF3 retinitis pigmentosa", "RP18", "retinitis pigmentosa 18", "retinitis pigmentosa caused by mutation in PRPF3", "retinitis pigmentosa type 18", "RP 18" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene." }, "child_count": 0, "reference_id": "MONDO:0011075" }, { "id": 12260, "label": "retinitis pigmentosa 19", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24995 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110354", "GARD:0010398", "MEDGEN:400996", "MESH:C566637", "OMIM:601718", "UMLS:C1866422" ], "synonyms": [ "ABCA4 retinitis pigmentosa", "RP19", "retinitis pigmentosa 19", "retinitis pigmentosa caused by mutation in ABCA4", "retinitis pigmentosa type 19", "RP 19" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene." }, "child_count": 0, "reference_id": "MONDO:0011137" }, { "id": 12379, "label": "retinitis pigmentosa 22", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110400", "GARD:0010393", "MEDGEN:854689", "OMIM:602594", "UMLS:C3887981" ], "synonyms": [ "RP22", "retinitis pigmentosa 22", "retinitis pigmentosa type 22", "RP 22" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1." }, "child_count": 0, "reference_id": "MONDO:0011259" }, { "id": 12392, "label": "retinitis pigmentosa 25", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24980 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110384", "GARD:0010384", "MEDGEN:350427", "MESH:C566425", "OMIM:602772", "UMLS:C1864446" ], "synonyms": [ "EYS retinitis pigmentosa", "RP25", "retinitis pigmentosa 25", "retinitis pigmentosa caused by mutation in EYS", "retinitis pigmentosa type 25", "RP 25" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene." }, "child_count": 0, "reference_id": "MONDO:0011272" }, { "id": 12725, "label": "retinitis pigmentosa 28", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110365", "GARD:0010394", "MEDGEN:244030", "OMIM:606068", "UMLS:C1419614" ], "synonyms": [ "FAM161A retinitis pigmentosa", "RP28", "retinitis pigmentosa 28", "retinitis pigmentosa caused by mutation in FAM161A", "retinitis pigmentosa type 28", "RP 28" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene." }, "child_count": 0, "reference_id": "MONDO:0011630" }, { "id": 13009, "label": "retinitis pigmentosa 30", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110406", "GARD:0010401", "MEDGEN:334614", "OMIM:607921", "UMLS:C1842816" ], "synonyms": [ "FSCN2 retinitis pigmentosa", "RP30", "retinitis pigmentosa 30", "retinitis pigmentosa caused by mutation in FSCN2", "retinitis pigmentosa type 30", "RP 30", "macular Degeneration" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene." }, "child_count": 0, "reference_id": "MONDO:0011935" }, { "id": 13045, "label": "retinitis pigmentosa 7", "isLeaf": true, "isRoot": false, "parents": [ 19070, 29285 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110383", "GARD:0010386", "MEDGEN:334168", "OMIM:608133", "UMLS:C1842475" ], "synonyms": [ "RP 7", "RP7", "retinitis pigmentosa 7", "retinitis pigmentosa type 7" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A retinitis pigmentosain which the cause of the disease is a variation in the RDS gene (PRPH2). A digenic form of retinitis pigmentosa, resulting from a mutation in the RDS gene and a null mutation of the ROM1 gene, has also been reported." }, "child_count": 0, "reference_id": "MONDO:0011974" }, { "id": 13093, "label": "retinitis pigmentosa 26", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24990 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110368", "GARD:0010397", "MEDGEN:333996", "MESH:C564249", "OMIM:608380", "UMLS:C1842127" ], "synonyms": [ "CERKL retinitis pigmentosa", "RP26", "retinitis pigmentosa 26", "retinitis pigmentosa caused by mutation in CERKL", "retinitis pigmentosa type 26", "RP 26" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene." }, "child_count": 0, "reference_id": "MONDO:0012024" }, { "id": 13415, "label": "retinitis pigmentosa 32", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110355", "GARD:0010395", "MEDGEN:322781", "MESH:C563689", "OMIM:609913", "UMLS:C1835927" ], "synonyms": [ "RP32", "retinitis pigmentosa 32", "retinitis pigmentosa type 32" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3." }, "child_count": 0, "reference_id": "MONDO:0012363" }, { "id": 13419, "label": "retinitis pigmentosa 31", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24628 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110391", "GARD:0010396", "MEDGEN:372159", "MESH:C563685", "OMIM:609923", "UMLS:C1835923" ], "synonyms": [ "RP31", "TOPORS retinitis pigmentosa", "retinitis pigmentosa 31", "retinitis pigmentosa caused by mutation in TOPORS", "retinitis pigmentosa type 31", "RP 31" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene." }, "child_count": 0, "reference_id": "MONDO:0012367" }, { "id": 13512, "label": "retinitis pigmentosa 35", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110357", "GARD:0010402", "MEDGEN:339931", "MESH:C565206", "OMIM:610282", "UMLS:C1853214" ], "synonyms": [ "RP35", "SEMA4A retinitis pigmentosa", "retinitis pigmentosa 35", "retinitis pigmentosa caused by mutation in SEMA4A", "retinitis pigmentosa type 35", "RP 35" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene." }, "child_count": 0, "reference_id": "MONDO:0012463" }, { "id": 13526, "label": "retinitis pigmentosa 33", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24808 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110366", "GARD:0010400", "MEDGEN:332080", "MESH:C563676", "OMIM:610359", "UMLS:C1835895" ], "synonyms": [ "RP33", "SNRNP200 retinitis pigmentosa", "retinitis pigmentosa 33", "retinitis pigmentosa caused by mutation in SNRNP200", "retinitis pigmentosa type 33", "RP 33" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene." }, "child_count": 0, "reference_id": "MONDO:0012477" }, { "id": 13571, "label": "retinitis pigmentosa 36", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110405", "GARD:0010403", "MEDGEN:351175", "MESH:C566431", "OMIM:610599", "UMLS:C1864621" ], "synonyms": [ "PRCD retinitis pigmentosa", "RP36", "retinitis pigmentosa 36", "retinitis pigmentosa caused by mutation in PRCD", "retinitis pigmentosa type 36", "RP 36" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene." }, "child_count": 0, "reference_id": "MONDO:0012523" }, { "id": 13671, "label": "retinitis pigmentosa 37", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110399", "GARD:0015508", "MEDGEN:410004", "MESH:C567005", "OMIM:611131", "UMLS:C1970163" ], "synonyms": [ "NR2E3 retinitis pigmentosa", "RP37", "retinitis pigmentosa 37", "retinitis pigmentosa caused by mutation in NR2E3", "retinitis pigmentosa type 37" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene." }, "child_count": 0, "reference_id": "MONDO:0012625" }, { "id": 13836, "label": "retinitis pigmentosa 41", "isLeaf": true, "isRoot": false, "parents": [ 19070, 29282 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110376", "GARD:0010379", "MEDGEN:383126", "MESH:C567422", "OMIM:612095", "UMLS:C2677516" ], "synonyms": [ "PROM1 retinitis pigmentosa", "RP41", "retinitis pigmentosa 41", "retinitis pigmentosa caused by mutation in PROM1", "retinitis pigmentosa type 41", "RP 41", "retinal Degeneration, autosomal recessive, prominin-related" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene." }, "child_count": 0, "reference_id": "MONDO:0012796" }, { "id": 13853, "label": "retinitis pigmentosa 29", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110378", "GARD:0010378", "MEDGEN:393710", "MESH:C567403", "OMIM:612165", "UMLS:C2677325" ], "synonyms": [ "RP29", "retinitis pigmentosa 29", "retinitis pigmentosa type 29", "RP 29" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34." }, "child_count": 0, "reference_id": "MONDO:0012813" }, { "id": 13983, "label": "retinitis pigmentosa 46", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24982 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110409", "GARD:0015571", "MEDGEN:382614", "MESH:C567249", "OMIM:612572", "UMLS:C2675496" ], "synonyms": [ "IDH3B retinitis pigmentosa", "RP46", "retinitis pigmentosa 46", "retinitis pigmentosa caused by mutation in IDH3B", "retinitis pigmentosa type 46", "retinitis pigmentosa, autosomal recessive, Idh3B-related" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene." }, "child_count": 0, "reference_id": "MONDO:0012943" }, { "id": 14090, "label": "retinitis pigmentosa 42", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110386", "GARD:0015593", "MEDGEN:442864", "MESH:C567854", "OMIM:612943", "UMLS:C2751986" ], "synonyms": [ "KLHL7 retinitis pigmentosa", "RP42", "retinitis pigmentosa 42", "retinitis pigmentosa caused by mutation in KLHL7", "retinitis pigmentosa type 42" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene." }, "child_count": 0, "reference_id": "MONDO:0013052" }, { "id": 14211, "label": "retinitis pigmentosa 50", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110396", "GARD:0015629", "MEDGEN:442563", "MESH:C567712", "OMIM:613194", "UMLS:C2750789" ], "synonyms": [ "BEST1 retinitis pigmentosa", "RP50", "retinitis pigmentosa 50", "retinitis pigmentosa caused by mutation in BEST1", "retinitis pigmentosa type 50", "retinitis pigmentosa-50", "retinitis pigmentosa, concentric" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene." }, "child_count": 0, "reference_id": "MONDO:0013175" }, { "id": 14299, "label": "retinitis pigmentosa 54", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24993 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110364", "GARD:0015662", "MEDGEN:462041", "OMIM:613428", "UMLS:C3150691" ], "synonyms": [ "PCARE retinitis pigmentosa", "RP54", "retinitis pigmentosa 54", "retinitis pigmentosa caused by mutation in PCARE", "retinitis pigmentosa type 54" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene." }, "child_count": 0, "reference_id": "MONDO:0013263" }, { "id": 14309, "label": "retinitis pigmentosa 51", "isLeaf": true, "isRoot": false, "parents": [ 19070, 20852, 29279 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110398", "GARD:0015665", "MEDGEN:462065", "OMIM:613464", "UMLS:C3150715" ], "synonyms": [ "RP51", "TTC8 retinitis pigmentosa", "retinitis pigmentosa 51", "retinitis pigmentosa caused by mutation in TTC8", "retinitis pigmentosa type 51" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene." }, "child_count": 0, "reference_id": "MONDO:0013274" }, { "id": 14347, "label": "retinitis pigmentosa 55", "isLeaf": true, "isRoot": false, "parents": [ 19070, 20852, 29289 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110370", "GARD:0015677", "MEDGEN:462158", "OMIM:613575", "UMLS:C3150808" ], "synonyms": [ "ARL6 retinitis pigmentosa", "RP55", "retinitis pigmentosa 55", "retinitis pigmentosa caused by mutation in ARL6", "retinitis pigmentosa type 55" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene." }, "child_count": 0, "reference_id": "MONDO:0013312" }, { "id": 14349, "label": "retinitis pigmentosa 56", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24636 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110371", "GARD:0015678", "MEDGEN:462169", "OMIM:613581", "UMLS:C3150819" ], "synonyms": [ "IMPG2 retinitis pigmentosa", "RP56", "retinitis pigmentosa 56", "retinitis pigmentosa caused by mutation in IMPG2", "retinitis pigmentosa type 56", "maculopathy, Impg2-related" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene." }, "child_count": 0, "reference_id": "MONDO:0013314" }, { "id": 14350, "label": "retinitis pigmentosa 57", "isLeaf": true, "isRoot": false, "parents": [ 19070, 29264 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110407", "GARD:0015679", "MEDGEN:462171", "OMIM:613582", "UMLS:C3150821" ], "synonyms": [ "PDE6G retinitis pigmentosa", "RP57", "retinitis pigmentosa 57", "retinitis pigmentosa caused by mutation in PDE6G", "retinitis pigmentosa type 57" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene." }, "child_count": 0, "reference_id": "MONDO:0013315" }, { "id": 14363, "label": "retinitis pigmentosa 58", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110362", "GARD:0015682", "MEDGEN:462229", "OMIM:613617", "UMLS:C3150879" ], "synonyms": [ "RP58", "ZNF513 retinitis pigmentosa", "retinitis pigmentosa 58", "retinitis pigmentosa caused by mutation in ZNF513", "retinitis pigmentosa type 58" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene." }, "child_count": 0, "reference_id": "MONDO:0013328" }, { "id": 14381, "label": "cone-rod dystrophy 15", "isLeaf": true, "isRoot": false, "parents": [ 16636, 19070, 24748 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111021", "GARD:0015686", "MEDGEN:462262", "OMIM:613660", "UMLS:C3150912" ], "synonyms": [ "CDHR1 cone-rod dystrophy", "CORD15", "cone-rod dystrophy 15", "cone-rod dystrophy caused by mutation in CDHR1", "cone-rod dystrophy type 15", "retinitis pigmentosa 65" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene." }, "child_count": 0, "reference_id": "MONDO:0013348" }, { "id": 14428, "label": "retinitis pigmentosa 4", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24753 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110372", "GARD:0010405", "HGNC:10012", "MEDGEN:462351", "MESH:C566706", "OMIM:613731", "UMLS:C3151001" ], "synonyms": [ "RHO retinitis pigmentosa", "RP4", "retinitis pigmentosa 4", "retinitis pigmentosa 4, autosomal dominant or recessive", "retinitis pigmentosa caused by mutation in RHO", "retinitis pigmentosa type 4", "RP 4", "retinitis pigmentosa, rhodopsin-related" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene." }, "child_count": 0, "reference_id": "MONDO:0013395" }, { "id": 14434, "label": "retinitis pigmentosa 27", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110397", "GARD:0015700", "MEDGEN:320323", "MESH:C563526", "OMIM:613750", "UMLS:C1834329" ], "synonyms": [ "NRL retinitis pigmentosa", "RP27", "retinitis pigmentosa 27", "retinitis pigmentosa caused by mutation in NRL", "retinitis pigmentosa type 27", "retinal Degeneration, autosomal recessive, Clumped pigment type" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene." }, "child_count": 0, "reference_id": "MONDO:0013402" }, { "id": 14437, "label": "retinitis pigmentosa 49", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24994 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110377", "GARD:0015701", "MEDGEN:462409", "OMIM:613756", "UMLS:C3151059" ], "synonyms": [ "CNGA1 retinitis pigmentosa", "RP49", "retinitis pigmentosa 49", "retinitis pigmentosa caused by mutation in CNGA1", "retinitis pigmentosa type 49" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene." }, "child_count": 0, "reference_id": "MONDO:0013405" }, { "id": 14439, "label": "retinitis pigmentosa 47", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110369", "GARD:0015702", "MEDGEN:462411", "OMIM:613758", "UMLS:C3151061" ], "synonyms": [ "RP47", "SAG retinitis pigmentosa", "retinitis pigmentosa 47", "retinitis pigmentosa caused by mutation in SAG", "retinitis pigmentosa type 47" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene." }, "child_count": 0, "reference_id": "MONDO:0013407" }, { "id": 14445, "label": "retinitis pigmentosa 45", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24992 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110402", "GARD:0015704", "MEDGEN:462416", "OMIM:613767", "UMLS:C3151066" ], "synonyms": [ "CNGB1 retinitis pigmentosa", "RP45", "retinitis pigmentosa 45", "retinitis pigmentosa caused by mutation in CNGB1", "retinitis pigmentosa type 45" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene." }, "child_count": 0, "reference_id": "MONDO:0013413" }, { "id": 14446, "label": "retinitis pigmentosa 44", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110394", "GARD:0015705", "MEDGEN:462418", "OMIM:613769", "UMLS:C3151068" ], "synonyms": [ "RGR retinitis pigmentosa", "RP44", "retinitis pigmentosa 44", "retinitis pigmentosa caused by mutation in RGR", "retinitis pigmentosa type 44" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene." }, "child_count": 0, "reference_id": "MONDO:0013414" }, { "id": 14457, "label": "retinitis pigmentosa 20", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24096 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110353", "GARD:0010404", "HGNC:10294", "MEDGEN:462436", "MESH:C566718", "OMIM:613794", "UMLS:C3151086" ], "synonyms": [ "RP20", "RPE65 retinitis pigmentosa", "retinitis pigmentosa 20", "retinitis pigmentosa caused by mutation in RPE65", "retinitis pigmentosa type 20", "RP 20" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene." }, "child_count": 0, "reference_id": "MONDO:0013425" }, { "id": 14461, "label": "retinitis pigmentosa 40", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110375", "GARD:0015709", "MEDGEN:462457", "OMIM:613801", "UMLS:C3151107" ], "synonyms": [ "PDE6B retinitis pigmentosa", "RP40", "retinitis pigmentosa 40", "retinitis pigmentosa caused by mutation in PDE6B", "retinitis pigmentosa type 40", "retinitis pigmentosa-40" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene." }, "child_count": 0, "reference_id": "MONDO:0013429" }, { "id": 14468, "label": "retinitis pigmentosa 39", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110360", "GARD:0015715", "MEDGEN:462488", "OMIM:613809", "UMLS:C3151138" ], "synonyms": [ "RP39", "USH2A retinitis pigmentosa", "retinitis pigmentosa 39", "retinitis pigmentosa caused by mutation in USH2A", "retinitis pigmentosa type 39" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene." }, "child_count": 0, "reference_id": "MONDO:0013436" }, { "id": 14469, "label": "retinitis pigmentosa 43", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24619 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110379", "GARD:0015716", "MEDGEN:462489", "OMIM:613810", "UMLS:C3151139" ], "synonyms": [ "PDE6A retinitis pigmentosa", "RP43", "retinitis pigmentosa 43", "retinitis pigmentosa caused by mutation in PDE6A", "retinitis pigmentosa type 43" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene." }, "child_count": 0, "reference_id": "MONDO:0013437" }, { "id": 14479, "label": "retinitis pigmentosa 48", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110382", "GARD:0015720", "MEDGEN:462540", "OMIM:613827", "UMLS:C3151190" ], "synonyms": [ "GUCA1B retinitis pigmentosa", "RP48", "retinitis pigmentosa 48", "retinitis pigmentosa caused by mutation in GUCA1B", "retinitis pigmentosa type 48" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene." }, "child_count": 0, "reference_id": "MONDO:0013447" }, { "id": 14499, "label": "retinitis pigmentosa 59", "isLeaf": true, "isRoot": false, "parents": [ 19070, 26519, 29284 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110352", "GARD:0015724", "MEDGEN:462577", "OMIM:613861", "UMLS:C3151227" ], "synonyms": [ "DHDDS retinitis pigmentosa", "RP59", "congenital disorder of glycosylation, type 1bb", "retinitis pigmentosa 59", "retinitis pigmentosa caused by mutation in DHDDS", "retinitis pigmentosa type 59", "congenital disorder of glycosylation, type Ibb" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene." }, "child_count": 0, "reference_id": "MONDO:0013468" }, { "id": 14500, "label": "retinitis pigmentosa 38", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24983 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110367", "GARD:0015725", "MEDGEN:462578", "OMIM:613862", "UMLS:C3151228" ], "synonyms": [ "MERTK retinitis pigmentosa", "RP38", "retinitis pigmentosa 38", "retinitis pigmentosa caused by mutation in MERTK", "retinitis pigmentosa type 38", "Rod-cone dystrophy, childhood-onset" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene." }, "child_count": 0, "reference_id": "MONDO:0013469" }, { "id": 14546, "label": "retinitis pigmentosa 60", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110411", "GARD:0015738", "MEDGEN:462784", "OMIM:613983", "UMLS:C3151434" ], "synonyms": [ "PRPF6 retinitis pigmentosa", "RP60", "retinitis pigmentosa 60", "retinitis pigmentosa caused by mutation in PRPF6", "retinitis pigmentosa type 60" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene." }, "child_count": 0, "reference_id": "MONDO:0013516" }, { "id": 14636, "label": "retinitis pigmentosa 61", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110373", "GARD:0015766", "MEDGEN:481671", "OMIM:614180", "UMLS:C3280041" ], "synonyms": [ "CLRN1 retinitis pigmentosa", "RP61", "retinitis pigmentosa 61", "retinitis pigmentosa caused by mutation in CLRN1", "retinitis pigmentosa type 61" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene." }, "child_count": 0, "reference_id": "MONDO:0013610" }, { "id": 14637, "label": "retinitis pigmentosa 62", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24624 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110380", "GARD:0015767", "MEDGEN:481672", "OMIM:614181", "UMLS:C3280042" ], "synonyms": [ "MAK retinitis pigmentosa", "RP62", "retinitis pigmentosa 62", "retinitis pigmentosa caused by mutation in MAK", "retinitis pigmentosa type 62" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene." }, "child_count": 0, "reference_id": "MONDO:0013611" }, { "id": 14798, "label": "retinitis pigmentosa 63", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110385", "GARD:0015810", "MEDGEN:482632", "OMIM:614494", "UMLS:C3281002" ], "synonyms": [ "RP63", "retinitis pigmentosa 63", "retinitis pigmentosa type 63" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23." }, "child_count": 0, "reference_id": "MONDO:0013780" }, { "id": 14804, "label": "cone-rod dystrophy 16", "isLeaf": true, "isRoot": false, "parents": [ 16636, 19070, 20852, 24747 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111022", "GARD:0015812", "MEDGEN:482675", "OMIM:614500", "UMLS:C3281045" ], "synonyms": [ "C8orf37 cone-rod dystrophy", "CORD16", "cone-rod dystrophy 16", "cone-rod dystrophy caused by mutation in C8orf37", "cone-rod dystrophy type 16", "retinal dystrophy with early macular involvement", "retinitis pigmentosa 64" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene." }, "child_count": 0, "reference_id": "MONDO:0013786" }, { "id": 15102, "label": "retinitis pigmentosa 66", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110393", "GARD:0015923", "MEDGEN:811638", "OMIM:615233", "UMLS:C3715216" ], "synonyms": [ "RBP3 retinitis pigmentosa", "RP66", "retinitis pigmentosa 66", "retinitis pigmentosa caused by mutation in RBP3", "retinitis pigmentosa type 66" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene." }, "child_count": 0, "reference_id": "MONDO:0014093" }, { "id": 15193, "label": "retinitis pigmentosa with or without situs inversus", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110419", "GARD:0015965", "MEDGEN:1658130", "OMIM:615434", "UMLS:C4747737" ], "synonyms": [ "ARL2BP retinitis pigmentosa", "retinitis pigmentosa caused by mutation in ARL2BP", "retinitis pigmentosa with or without situs inversus" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene." }, "child_count": 0, "reference_id": "MONDO:0014186" }, { "id": 15261, "label": "retinitis pigmentosa 67", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110359", "GARD:0015988", "MEDGEN:816284", "OMIM:615565", "UMLS:C3809954" ], "synonyms": [ "NEK2 retinitis pigmentosa", "RP67", "retinitis pigmentosa 67", "retinitis pigmentosa caused by mutation in NEK2", "retinitis pigmentosa type 67" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene." }, "child_count": 0, "reference_id": "MONDO:0014256" }, { "id": 15326, "label": "retinitis pigmentosa 68", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110374", "GARD:0016004", "MEDGEN:816710", "OMIM:615725", "UMLS:C3810380" ], "synonyms": [ "RP68", "SLC7A14 retinitis pigmentosa", "retinitis pigmentosa 68", "retinitis pigmentosa caused by mutation in SLC7A14", "retinitis pigmentosa type 68" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene." }, "child_count": 0, "reference_id": "MONDO:0014323" }, { "id": 15347, "label": "retinitis pigmentosa 69", "isLeaf": true, "isRoot": false, "parents": [ 19070, 24627 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110410", "GARD:0016011", "MEDGEN:862749", "OMIM:615780", "UMLS:C4014312" ], "synonyms": [ "KIZ retinitis pigmentosa", "RP69", "retinitis pigmentosa 69", "retinitis pigmentosa caused by mutation in KIZ", "retinitis pigmentosa type 69" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene." }, "child_count": 0, "reference_id": "MONDO:0014345" }, { "id": 15402, "label": "retinitis pigmentosa 70", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110392", "GARD:0016032", "MEDGEN:863118", "OMIM:615922", "UMLS:C4014681" ], "synonyms": [ "PRPF4 retinitis pigmentosa", "RP70", "retinitis pigmentosa 70", "retinitis pigmentosa caused by mutation in PRPF4", "retinitis pigmentosa type 70" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene." }, "child_count": 0, "reference_id": "MONDO:0014400" }, { "id": 15521, "label": "retinal dystrophy and obesity", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024998", "MEDGEN:863861", "OMIM:616188", "UMLS:C4015424" ], "synonyms": [ "retinal dystrophy and obesity", "RDOB" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0014522" }, { "id": 15614, "label": "retinitis pigmentosa 71", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110363", "GARD:0016101", "MEDGEN:897209", "OMIM:616394", "UMLS:C4225342" ], "synonyms": [ "IFT172 retinitis pigmentosa", "RP71", "retinitis pigmentosa 71", "retinitis pigmentosa caused by mutation in IFT172", "retinitis pigmentosa type 71" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene." }, "child_count": 0, "reference_id": "MONDO:0014618" }, { "id": 15649, "label": "retinitis pigmentosa 72", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110395", "GARD:0016119", "MEDGEN:895867", "OMIM:616469", "UMLS:C4225315" ], "synonyms": [ "RP72", "ZNF408 retinitis pigmentosa", "retinitis pigmentosa 72", "retinitis pigmentosa caused by mutation in ZNF408", "retinitis pigmentosa type 72" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene." }, "child_count": 0, "reference_id": "MONDO:0014653" }, { "id": 15682, "label": "retinitis pigmentosa 73", "isLeaf": true, "isRoot": false, "parents": [ 19070, 29270 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110389", "GARD:0016135", "MEDGEN:907690", "OMIM:616544", "UMLS:C4225287" ], "synonyms": [ "HGSNAT retinitis pigmentosa", "RP73", "retinitis pigmentosa 73", "retinitis pigmentosa caused by mutation in HGSNAT", "retinitis pigmentosa type 73" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene." }, "child_count": 0, "reference_id": "MONDO:0014687" }, { "id": 15687, "label": "retinitis pigmentosa 74", "isLeaf": true, "isRoot": false, "parents": [ 19070, 20852, 29278 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110401", "GARD:0016138", "MEDGEN:906896", "OMIM:616562", "UMLS:C4225281" ], "synonyms": [ "BBS2 retinitis pigmentosa", "RP74", "retinitis pigmentosa 74", "retinitis pigmentosa caused by mutation in BBS2", "retinitis pigmentosa type 74" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene." }, "child_count": 0, "reference_id": "MONDO:0014692" }, { "id": 15853, "label": "retinitis pigmentosa 75", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0110361", "GARD:0016176", "MEDGEN:934726", "OMIM:617023", "UMLS:C4310759" ], "synonyms": [ "AGBL5 retinitis pigmentosa", "RP75", "retinitis pigmentosa 75", "retinitis pigmentosa caused by mutation in AGBL5", "retinitis pigmentosa type 75" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene." }, "child_count": 0, "reference_id": "MONDO:0014871" }, { "id": 15908, "label": "retinitis pigmentosa 76", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061103", "GARD:0016196", "MEDGEN:934671", "OMIM:617123", "UMLS:C4310704" ], "synonyms": [ "POMGNT1 retinitis pigmentosa", "RP76", "retinitis pigmentosa 76", "retinitis pigmentosa 76; RP76", "retinitis pigmentosa caused by mutation in POMGNT1", "retinitis pigmentosa type 76" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene." }, "child_count": 0, "reference_id": "MONDO:0014929" }, { "id": 15989, "label": "retinitis pigmentosa 77", "isLeaf": true, "isRoot": false, "parents": [ 19070, 29290 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080350", "GARD:0016221", "MEDGEN:934593", "OMIM:617304", "UMLS:C4310626" ], "synonyms": [ "REEP6 retinitis pigmentosa", "retinitis pigmentosa 77", "retinitis pigmentosa caused by mutation in REEP6", "retinitis pigmentosa type 77", "RP77" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene." }, "child_count": 0, "reference_id": "MONDO:0015013" }, { "id": 21987, "label": "retinitis pigmentosa 92", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061107", "GARD:0025604", "MEDGEN:1794232", "OMIM:619614", "UMLS:C5562022" ], "synonyms": [ "RP92", "retinitis pigmentosa 92" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0030619" }, { "id": 22046, "label": "retinitis pigmentosa 93", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061105", "GARD:0025638", "MEDGEN:1810905", "OMIM:619845", "UMLS:C5676970" ], "synonyms": [ "CC2D2A retinitis pigmentosa 93", "RP93", "retinitis pigmentosa 93" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CC2D2A gene." }, "child_count": 0, "reference_id": "MONDO:0030797" }, { "id": 22267, "label": "retinitis pigmentosa 83", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112140", "GARD:0016298", "MEDGEN:1648404", "OMIM:618173", "UMLS:C4748536" ], "synonyms": [ "RETINITIS PIGMENTOSA 83", "RP83" ], "categories": [ { "ref": "MONDO:0002022", "name": 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"OMIM:301148", "UMLS:C6012690" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0978291" }, { "id": 26320, "label": "retinitis pigmentosa 100", "isLeaf": true, "isRoot": false, "parents": [ 19070 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028121", "MEDGEN:1876473", "OMIM:621280", "UMLS:C6012755" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0979574" }, { "id": 29317, "label": "retinitis pigmentosa 7, digenic", "isLeaf": true, "isRoot": false, "parents": [ 19070, 29285 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028161", "MEDGEN:393414", "UMLS:C2675552" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A digenic form of retinitis pigmentosa resulting from a mutation in the PRPH2 gene and a null mutation of the ROM1 gene, leading to progressive degeneration of the retina and vision loss." }, "child_count": 0, "reference_id": "MONDO:1060144" } ], "roots": [ { "id": 19000, "label": "inherited retinal dystrophy" } ] }