{ "id": 19000, "label": "inherited retinal dystrophy", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0019118", "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." }, "isLeaf": false, "isRoot": false, "child_count": 105, "parents": [ { "id": 6377, "label": "retinal degeneration", "isLeaf": false, "isRoot": false, "parents": [ 6979 ], "type_id": 0, "properties": { "xrefs": [ "DOID:8466", "MEDGEN:48432", "MESH:D012162", "NCIT:C34979", "SCTID:95695004", "UMLS:C0035304" ], "synonyms": [ "retina degeneration", "retina, Degeneration Of" ], "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": "Degeneration of the retina." }, "child_count": 6, "reference_id": "MONDO:0004580" }, { "id": 21402, "label": "perceptual disorders", "isLeaf": false, "isRoot": false, "parents": [ 6799 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:45392", "MESH:D010468", "UMLS:C0030975" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body." }, "child_count": 9, "reference_id": "MONDO:0024417" }, { "id": 24270, "label": "hereditary neurological disease", "isLeaf": false, "isRoot": false, "parents": [ 5714, 6799 ], "type_id": 0, "properties": { "synonyms": [ "neurogenetic disease" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" } ], "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles." }, "child_count": 528, "reference_id": "MONDO:0100545" } ], "children": [ { "id": 3860, "label": "retinal dystrophies primarily involving Bruch's membrane", "isLeaf": false, "isRoot": false, "parents": [ 4072, 19000, 23165 ], "type_id": 0, "properties": { "xrefs": [ "DOID:13227", "GARD:0022986", "ICD9:362.77", "MEDGEN:1720702", "UMLS:C0154866" ], "synonyms": [ "Bruch's membrane inherited retinal dystrophy", "inherited retinal dystrophy of Bruch's membrane" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation." }, "child_count": 3, "reference_id": "MONDO:0001666" }, { "id": 4095, "label": "vitreoretinal dystrophy", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14251", "GARD:0023040", "ICD10CM:H35.51", "ICD9:362.73", "MEDGEN:509690", "SCTID:79556007", "UMLS:C0154863", "icd11.foundation:817777781" ], "synonyms": [ "vitreoretinal dystrophies" ], "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:0001923" }, { "id": 4096, "label": "dystrophies primarily involving the retinal pigment epithelium", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14252", "GARD:0023041", "ICD10CM:H35.54", "MEDGEN:1843460", "UMLS:C0154865", "icd11.foundation:1387676300" ], "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:0001924" }, { "id": 4097, "label": "retinal dystrophy in systemic or cerebroretinal lipidoses", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14253", "GARD:0023042", "ICD9:362.71", "MEDGEN:1843490", "SCTID:15059000", "SCTID:192788009", "UMLS:C0154861" ], "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:0001925" }, { "id": 6874, "label": "age-related macular degeneration", "isLeaf": false, "isRoot": false, "parents": [ 4301, 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:10871", "EFO:0001365", "GARD:0027715", "ICD9:362.50", "MEDGEN:116576", "NCIT:C84391", "OMIMPS:603075", "Orphanet:279", "SCTID:267718000", "UMLS:C0242383", "birnlex:12812", "icd11.foundation:1514301548" ], "synonyms": [ "AMD", "ARMD", "Senile macular retinal degeneration", "age-related macular degeneration", "macular degeneration, age-related", "age related 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": "Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." }, "child_count": 30, "reference_id": "MONDO:0005150" }, { "id": 8583, "label": "helicoid peripapillary chorioretinal degeneration", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111228", "GARD:0016757", "MEDGEN:354733", "MESH:C566236", "OMIM:108985", "Orphanet:86813", "SCTID:724384008", "UMLS:C1862382", "icd11.foundation:896652469" ], "synonyms": [ "SCRA", "Sveinsson chorioretinal atrophy", "atrophia areata", "SVEINSSON chorioretinal atrophy", "helicoidal peripapillary chorioretinal Degeneration", "peripapillary chorioretinal Degeneration, Icelandic 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": "Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease." }, "child_count": 0, "reference_id": "MONDO:0007176" }, { "id": 9004, "label": "Sorsby fundus dystrophy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0090114", "GARD:0016480", "MEDGEN:338164", "MESH:C564992", "OMIM:136900", "Orphanet:59181", "SCTID:193410003", "UMLS:C1850938", "icd11.foundation:796458172" ], "synonyms": [ "SFD", "Sorsby fundus dystrophy", "Sorsby pseudoinflammatory fundus dystrophy", "Sorsby's pseudoinflammatory macular dystrophy", "fundus dystrophy, pseudoinflammatory, of Sorsby", "macular dystrophy, hemorrhagic" ], "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 rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness." }, "child_count": 1, "reference_id": "MONDO:0007640" }, { "id": 9251, "label": "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability", "isLeaf": true, "isRoot": false, "parents": [ 2903, 3394, 4370, 19000, 19154, 23165, 24226 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060349", "GARD:0003622", "MEDGEN:320559", "MESH:C537711", "OMIM:152950", "Orphanet:2526", "UMLS:C1835265" ], "synonyms": [ "KIF11-associated disorder", "MCLMR", "MLCRD", "MLCRD syndrome", "lymphedema, microcephaly and chorioretinopathy syndrome", "microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability", "microcephaly with or without chorioretinopathy, lymphedema, or mental retardation", "microcephaly, lymphedema, chorioretinal dysplasia syndrome", "KIF11 disease", "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005046", "name": "immune system disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A microcephaly caused by a mutation in KIF11 gene and follows autosomal dominant inheritance. It is characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability." }, "child_count": 0, "reference_id": "MONDO:0007918" }, { "id": 9553, "label": "pigmented paravenous retinochoroidal atrophy", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111541", "GARD:0017208", "MEDGEN:401413", "MESH:C566801", "OMIM:172870", "Orphanet:251295", "SCTID:723450004", "UMLS:C1868310", "icd11.foundation:1278139412" ], "synonyms": [ "PPRCA", "PPCRA", "pigmented paravenous chorioretinal atrophy" ], "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": "Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision." }, "child_count": 0, "reference_id": "MONDO:0008246" }, { "id": 9681, "label": "retinoschisis, autosomal dominant", "isLeaf": true, "isRoot": false, "parents": [ 2903, 6376, 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009144", "MEDGEN:357940", "MESH:C000598640", "OMIM:180270", "UMLS:C1867235" ], "synonyms": [ "autosomal dominant retinoschisis", "retinoschisis, autosomal dominant", "retinoschisis autosomal 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": "Autosomal dominant form of retinoschisis." }, "child_count": 0, "reference_id": "MONDO:0008382" }, { "id": 9923, "label": "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations", "isLeaf": true, "isRoot": false, "parents": [ 4419, 19000, 24651, 25666 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111567", "GARD:0001217", "MEDGEN:348124", "MESH:C566007", "NORD:1910", "OMIM:192315", "Orphanet:247691", "SCTID:720854004", "SCTID:721141004", "UMLS:C1860518", "icd11.foundation:554838792" ], "synonyms": [ "RVCL", "RVCL-S", "hereditary vascular retinopathy", "retinal vasculopathy and cerebral leukoencephalopathy", "vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations", "ADRVCL", "CRV", "HVR", "autosomal dominant retinal vasculopathy with cerebral leukodystrophy", "cerebroretinal vasculopathy", "cerebroretinal vasculopathy, hereditary", "grand Kaine fulling syndrome", "grand-Kaine-fulling syndrome", "retinal vasculopathy with cerebral leukodystrophy", "retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena", "vasculopathy, retinal, with cerebral leukodystrophy" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0003900", "name": "connective tissue disorder" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction." }, "child_count": 0, "reference_id": "MONDO:0008641" }, { "id": 10038, "label": "amaurosis-hypertrichosis syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000637", "MEDGEN:341805", "MESH:C536604", "OMIM:204110", "Orphanet:1021", "SCTID:720983002", "UMLS:C1857588" ], "synonyms": [ "amaurosis congenita cone-rod type with congenital hypertrichosis", "amaurosis congenita, cone-rod type, with congenital hypertrichosis" ], "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": "Amaurosis hypertrichosis is characterized by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents." }, "child_count": 0, "reference_id": "MONDO:0008766" }, { "id": 10478, "label": "familial benign flecked retina", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0111677", "GARD:0018651", "MEDGEN:341605", "MESH:C565564", "OMIM:228980", "Orphanet:363989", "UMLS:C1856718" ], "synonyms": [ "fleck retina, familial benign", "FLECK retina, familial benign", "FRFB" ], "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": "Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits." }, "child_count": 0, "reference_id": "MONDO:0009235" }, { "id": 10844, "label": "microcephaly and chorioretinopathy 1", "isLeaf": true, "isRoot": false, "parents": [ 2760, 4370, 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080105", "GARD:0016603", "MEDGEN:480111", "NCIT:C129306", "OMIM:251270", "Orphanet:2518", "UMLS:C3278481" ], "synonyms": [ "Pseudotoxoplasmosis syndrome", "TUBGCP6 microcephaly and chorioretinopathy", "autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome", "microcephaly and chorioretinopathy 1", "microcephaly and chorioretinopathy caused by mutation in TUBGCP6", "microcephaly and chorioretinopathy type 1", "microcephaly and chorioretinopathy, autosomal recessive, type 1", "MCCRP1", "autosomal recessive chorioretinopathy-microcephaly syndrome", "microcephaly and chorioretinopathy, autosomal recessive, 1" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy." }, "child_count": 0, "reference_id": "MONDO:0009624" }, { "id": 11006, "label": "ornithine aminotransferase deficiency", "isLeaf": true, "isRoot": false, "parents": [ 4072, 17673, 19000, 19748, 23165 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1415", "GARD:0006556", "MEDGEN:6695", "MESH:D015799", "NANDO:2200484", "NANDO:2200486", "NCIT:C84744", "OMIM:258870", "Orphanet:414", "UMLS:C0018425" ], "synonyms": [ "GACR", "HOGA", "gyrate atrophy", "gyrate atrophy of choroid and retina with or without ornithinemia", "hoga", "hyperornithinemia", "hyperornithinemia-gyrate atrophy of choroid and retina syndrome", "ornithine aminotransferase deficiency", "Fuchs atrophia gyrata chorioideae et retinae", "Fuchs gyrate atrophy", "Fuchs gyrate atrophy of the choroid and retina", "Girate atrophy of the retina", "OAT deficiency", "OKT deficiency", "Oat deficiency", "Okt deficiency", "Ornithinemia", "gyrate atrophy of choroid and retina", "hyperornithinemia with gyrate atrophy of choroid and retina", "ornithine Keto acid aminotransferase deficiency", "ornithine ketoacid aminotransferase deficiency", "ornithine-Delta-aminotransferase deficiency" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract." }, "child_count": 0, "reference_id": "MONDO:0009796" }, { "id": 11178, "label": "retinal degeneration-nanophthalmos-glaucoma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000395", "MEDGEN:444153", "MESH:C538364", "OMIM:267760", "Orphanet:1574", "SCTID:723503006", "UMLS:C2931831" ], "synonyms": [ "Mackay-Shek-Carr syndrome", "MacKay Shek Carr syndrome", "retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma", "retinal degeneration, nanophthalmos, glaucoma" ], "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": "Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0009978" }, { "id": 11187, "label": "retinoschisis of fovea", "isLeaf": true, "isRoot": false, "parents": [ 6376, 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009143", "MEDGEN:340313", "MESH:C538369", "OMIM:268080", "UMLS:C1849397" ], "synonyms": [ "retinoschisis of fovea", "familial foveal retinoschisis", "foveal retinoschisis" ], "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:0009988" }, { "id": 11188, "label": "Revesz syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16534, 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0070026", "GARD:0004695", "MEDGEN:231230", "MESH:C538371", "NCIT:C152064", "OMIM:268130", "Orphanet:3088", "SCTID:723512008", "UMLS:C1327916" ], "synonyms": [ "DKCA5", "Revesz syndrome", "Revesz-DeBuse syndrome", "dyskeratosis congenita with bilateral exudative retinopathy", "dyskeratosis congenita, autosomal dominant 5", "exudative retinopathy with bone marrow failure", "retinopathy-anemia-central nervous system anomalies syndrome" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications." }, "child_count": 0, "reference_id": "MONDO:0009990" }, { "id": 11711, "label": "choroideremia", "isLeaf": false, "isRoot": false, "parents": [ 2902, 4072, 19000, 23165 ], "type_id": 0, "properties": { "xrefs": [ "DOID:9821", "GARD:0006061", "ICD10CM:H31.21", "ICD9:363.55", "MEDGEN:944", "MESH:D015794", "MedDRA:10008791", "NCIT:C34469", "NORD:932", "OMIM:303100", "Orphanet:180", "SCTID:75241009", "UMLS:C0008525", "icd11.foundation:217923263" ], "synonyms": [ "CHM", "Tapetochoroidal dystrophy", "choroideremia", "progressive choroidal atrophy", "TCD", "Tapetochoroidal dystrophy, progressive", "choroidal sclerosis", "progressive tapetochoroidal dystrophy" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina." }, "child_count": 8, "reference_id": "MONDO:0010557" }, { "id": 11712, "label": "choroideremia-deafness-obesity syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000369", "MEDGEN:763933", "MESH:C537793", "OMIM:303110", "Orphanet:1435", "SCTID:717761005", "UMLS:C3551019" ], "synonyms": [ "Ayazi syndrome", "Xq21 deletion syndrome, X-linked recessive", "choroideremia deafness obesity", "choroideremia, deafness, and intellectual disability", "choroideremia, deafness, and mental retardation", "choroideremia, obesity, and congenital deafness", "chromosome Xq21 deletion syndrome" ], "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": "Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state." }, "child_count": 0, "reference_id": "MONDO:0010558" }, { "id": 11863, "label": "X-linked retinal dysplasia", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0004680", "MEDGEN:909011", "OMIM:312550", "Orphanet:1852", "SCTID:715240000", "UMLS:C4275241" ], "synonyms": [ "PRD", "retinal dysplasia X-linked", "retinal dysplasia, primary" ], "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:0010722" }, { "id": 11865, "label": "X-linked retinoschisis", "isLeaf": true, "isRoot": false, "parents": [ 2902, 6376, 19000, 19768 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060763", "GARD:0004690", "MEDGEN:811458", "NANDO:1200938", "NCIT:C75483", "NORD:1864", "OMIM:312700", "Orphanet:792", "SCTID:86923008", "UMLS:C3714753", "icd11.foundation:2074506458" ], "synonyms": [ "X-linked juvenile retinoschisis", "X-linked juvenile retinoschisis type 1", "X-linked retinoschisis", "XLRS", "juvenile X-linked retinoschisis", "retinoschisis, X-linked", "retinoschisis, X-linked recessive", "RS", "RS1", "X-linked juvenile retinoschisis 1", "XJR", "XLRS1", "juvenile retinoschisis", "retinoschisis 1, X-linked, juvenile", "retinoschisis X-linked", "retinoschisis juvenile X chromosome-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": "A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration." }, "child_count": 0, "reference_id": "MONDO:0010725" }, { "id": 12065, "label": "progressive bifocal chorioretinal atrophy", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010123", "MEDGEN:371537", "MESH:C535356", "OMIM:600790", "Orphanet:75373", "SCTID:719266007", "UMLS:C1833321", "icd11.foundation:1936121929" ], "synonyms": [ "CRAPB", "PBCRA", "progressive bifocal chorioretinal atrophy", "Crapb", "chorioretinal atrophy, progressive bifocal" ], "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": "Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression." }, "child_count": 0, "reference_id": "MONDO:0010932" }, { "id": 12531, "label": "aceruloplasminemia", "isLeaf": true, "isRoot": false, "parents": [ 17107, 17988, 18404, 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050711", "GARD:0009499", "ICD9:277.6", "MEDGEN:168057", "NANDO:1200540", "NANDO:2200582", "NORD:707", "OMIM:604290", "Orphanet:48818", "SCTID:124224004", "UMLS:C0878682" ], "synonyms": [ "cerebellar ataxia", "aceruloplasminemia", "hereditary ceruloplasmin deficiency", "hypoceruloplasminemia, hereditary", "ceruloplasmin deficiency", "familial apoceruloplasmin deficiency", "hemosiderosis, systemic, due to aceruloplasminemia", "hypoceruloplasminemia", "systemic hemosiderosis due to aceruloplasminemia" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0005570", "name": "hematologic disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms." }, "child_count": 0, "reference_id": "MONDO:0011426" }, { "id": 12675, "label": "late-onset retinal degeneration", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060869", "GARD:0004357", "MEDGEN:344198", "MESH:C565309", "OMIM:605670", "Orphanet:67042", "SCTID:719431007", "UMLS:C1854065" ], "synonyms": [ "LORD", "autosomal dominant late-onset retinal degeneration", "late-onset retinal degeneration", "pigmentary retinopathy", "retinal Degeneration, late-onset, autosomal 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": "Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease." }, "child_count": 0, "reference_id": "MONDO:0011579" }, { "id": 14819, "label": "infantile cerebellar-retinal degeneration", "isLeaf": true, "isRoot": false, "parents": [ 17230, 19000, 21292 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050883", "GARD:0013264", "MEDGEN:482822", "OMIM:614559", "Orphanet:313850", "UMLS:C3281192" ], "synonyms": [ "infantile cerebellar-retinal degeneration", "ICRD", "infantile cerebellar retinal 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": "Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms." }, "child_count": 0, "reference_id": "MONDO:0013802" }, { "id": 15069, "label": "progressive retinal dystrophy due to retinol transport defect", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017529", "MEDGEN:767507", "OMIM:615147", "Orphanet:352718", "UMLS:C3554593" ], "synonyms": [ "retinol dystrophy-iris coloboma-comedogenic acne syndrome", "RDCCAS", "retinal dystrophy, iris coloboma, and comedogenic acne syndrome" ], "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:0014060" }, { "id": 15201, "label": "microcornea-myopic chorioretinal atrophy", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017593", "MEDGEN:815897", "OMIM:615458", "Orphanet:369970", "UMLS:C3809567" ], "synonyms": [ "MMCAT syndrome", "microcornea-myopic chorioretinal atrophy", "microcornea-myopic chorioretinal atrophy-telecanthus syndrome", "MMCAT", "microcornea, myopic chorioretinal atrophy, and telecanthus" ], "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:0014195" }, { "id": 15482, "label": "retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017640", "MEDGEN:863583", "OMIM:616079", "Orphanet:397758", "UMLS:C4015146" ], "synonyms": [ "retinal dystrophy with inner nuclear layer and ganglion cell anomalies", "RDGCA", "retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities" ], "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:0014483" }, { "id": 15500, "label": "macular degeneration, early-onset", "isLeaf": true, "isRoot": false, "parents": [ 5003, 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0024995", "MEDGEN:863723", "OMIM:616118", "UMLS:C4015286" ], "synonyms": [ "macular degeneration, early-onset", "EOMD" ], "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:0014501" }, { "id": 16636, "label": "cone-rod dystrophy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050572", "GARD:0010790", "MEDGEN:896366", "MESH:D000071700", "NANDO:1200937", "OMIMPS:120970", "Orphanet:1872", "UMLS:C4085590" ], "synonyms": [ "CRD", "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": "Inherited retinal dystrophies that belong to the group of pigmentary retinopathies." }, "child_count": 28, "reference_id": "MONDO:0015993" }, { "id": 16639, "label": "ectopia lentis-chorioretinal dystrophy-myopia syndrome", "isLeaf": true, "isRoot": false, "parents": [ 3420, 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003999", "MEDGEN:419715", "MESH:C536124", "Orphanet:1884", "SCTID:722437006", "UMLS:C2931115" ], "synonyms": [ "noble-Bass-Sherman syndrome", "ectopia lentis chorioretinal dystrophy myopia", "noble Bass Sherman syndrome" ], "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": "Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive." }, "child_count": 0, "reference_id": "MONDO:0015997" }, { "id": 16923, "label": "foveal hypoplasia-presenile cataract syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000406", "MEDGEN:419129", "MESH:C537858", "Orphanet:2253", "UMLS:C2931644" ], "synonyms": [ "O'Donnell-Pappas syndrome" ], "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:0016395" }, { "id": 17391, "label": "MRCS syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017255", "MEDGEN:1666962", "Orphanet:263347", "UMLS:C4749856", "icd11.foundation:392681472" ], "synonyms": [ "microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome" ], "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": "MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400." }, "child_count": 0, "reference_id": "MONDO:0016979" }, { "id": 18532, "label": "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19000, 19100 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0021752", "MEDGEN:1374000", "Orphanet:423479", "UMLS:C4517296" ], "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": "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination." }, "child_count": 0, "reference_id": "MONDO:0018495" }, { "id": 18914, "label": "Leber congenital amaurosis", "isLeaf": false, "isRoot": false, "parents": [ 4427, 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:14791", "GARD:0000634", "MEDGEN:137922", "MESH:D057130", "MedDRA:10070667", "NCIT:C129075", "NORD:1351", "OMIMPS:204000", "Orphanet:65", "SCTID:193413001", "UMLS:C0339527", "icd11.foundation:650490256" ], "synonyms": [ "Leber congenital amaurosis", "amaurosis congenita of Leber", "Leber's congenital tapetoretinal degeneration", "Leber's congenital tapetoretinal dysplasia", "congenital absence of the rods and cones", "congenital retinal blindness" ], "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": "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life." }, "child_count": 42, "reference_id": "MONDO:0018998" }, { "id": 19028, "label": "oligocone trichromacy", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018925", "MEDGEN:928545", "Orphanet:75378", "SCTID:722066001", "UMLS:C4302876", "icd11.foundation:645985320" ], "synonyms": [ "Oligocone syndrome" ], "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": "Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterized by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal color vision." }, "child_count": 0, "reference_id": "MONDO:0019151" }, { "id": 19029, "label": "Oguchi disease", "isLeaf": false, "isRoot": false, "parents": [ 16849, 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010118", "MEDGEN:224927", "MESH:C537743", "Orphanet:75382", "UMLS:C1306122", "icd11.foundation:1759055065" ], "synonyms": [ "Oguchi disease", "Oguchi syndrome", "congenital stationary night blindness, Oguchi type", "stationary night blindness, Oguchi 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": "Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon." }, "child_count": 4, "reference_id": "MONDO:0019152" }, { "id": 19070, "label": "retinitis pigmentosa", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "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." }, "child_count": 101, "reference_id": "MONDO:0019200" }, { "id": 19765, "label": "hereditary macular dystrophy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0025154", "MEDGEN:137919", "NANDO:1200931", "NCIT:C140264", "Orphanet:98664", "SCTID:276436007", "UMLS:C0339508" ], "synonyms": [ "genetic macular dystrophy", "genetic macular dystrophy (disease)" ], "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": "Macular dystrophy that is related to a change in a gene." }, "child_count": 17, "reference_id": "MONDO:0020242" }, { "id": 24096, "label": "RPE65-related recessive retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 7611, 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026155" ], "synonyms": [ "RPE65-related recessive retinopathy", "recessive RPE65 retinopathy", "LCA2", "Leber congenital amaurosis 2", "Leber congenital amaurosis caused by mutation in RPE65", "Leber congenital amaurosis type 2", "RP20", "RPE65 Leber congenital amaurosis", "RPE65 retinitis pigmentosa", "amaurosis congenita of Leber 2", "amaurosis congenita of Leber II", "amaurosis congenita of Leber, type 2", "retinitis pigmentosa 20", "retinitis pigmentosa caused by mutation in RPE65" ], "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 retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene." }, "child_count": 4, "reference_id": "MONDO:0100368" }, { "id": 24164, "label": "RPGR-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026213" ], "synonyms": [ "RPGR retinopathy", "RPGR-related retinopathy with or without sino-oto-pulmonary symptoms", "COD1", "CORDX1", "RP3", "RPGR retinitis pigmentosa", "X-linked cone dystrophy 1", "X-linked cone-rod dystrophy 1", "X-linked cone-rod dystrophy type 1", "choroidoretinal degeneration with retinal reflex in heterozygous women", "cone dystrophy 1, X-linked", "cone dystrophy X-linked 1", "cone-rod degeneration, X-linked", "cone-rod dystrophy X-linked 1", "cone-rod dystrophy, X-linked, 1", "cone-rod dystrophy, X-linked, type 1", "macular degeneration, X-linked atrophic", "retinal ciliopathy due to mutation in the RPGR gene", "retinitis pigmentosa 15", "retinitis pigmentosa 3", "retinitis pigmentosa caused by mutation in RPGR", "retinitis pigmentosa type 3" ], "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 retinopathy caused by a variant in the X-linked gene, RPGR." }, "child_count": 3, "reference_id": "MONDO:0100437" }, { "id": 24165, "label": "AIPL1-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026214" ], "synonyms": [ "AIPL1 retinopathy", "AIPL1 Leber congenital amaurosis", "LCA4", "Leber congenital amaurosis 4", "Leber congenital amaurosis caused by mutation in AIPL1", "Leber congenital amaurosis type 4", "amaurosis congenita of Leber, type 4", "cone-rod dystrophy", "cone-rod dystrophy, AIPL1-related", "retinitis pigmentosa, juvenile", "retinitis pigmentosa, juvenile, AIPL1-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": "A retinopathy caused by biallelic variants in the AIPL1 gene." }, "child_count": 1, "reference_id": "MONDO:0100438" }, { "id": 24169, "label": "RP2-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026217" ], "synonyms": [ "RP2 retinopathy", "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": "A retinopathy caused by variants in the X-linked gene, RP2." }, "child_count": 1, "reference_id": "MONDO:0100442" }, { "id": 24170, "label": "RDH5-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026218" ], "synonyms": [ "RDH5 retinopathy", "fundus albipunctatus", "pigmentary retinal dystrophy", "retinitis punctata albescens" ], "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 retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina." }, "child_count": 1, "reference_id": "MONDO:0100443" }, { "id": 24171, "label": "RLBP1-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061127", "GARD:0026219" ], "synonyms": [ "RLBP1 retinopathy", "Bothnia retinal dystrophy", "NFRCD", "Newfoundland ROD-cone dystrophy", "Newfoundland rod-cone dystrophy", "RLBP1 cone-rod dystrophy", "Vasterbotten dystrophy", "Västerbotten dystrophy", "cone-rod dystrophy caused by mutation in RLBP1", "fundus albipunctatus", "pigmentary retinal dystrophy", "retinitis punctata albescens" ], "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 retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina." }, "child_count": 3, "reference_id": "MONDO:0100444" }, { "id": 24172, "label": "LCA5-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026220" ], "synonyms": [ "LCA5 retinopathy", "LCA5-related retinopathy", "LCA5", "LCA5 Leber congenital amaurosis", "Leber congenital amaurosis 5", "Leber congenital amaurosis caused by mutation in LCA5", "Leber congenital amaurosis type 5", "amaurosis congenita of Leber, type 5" ], "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 retinopathy caused by biallelic variants in the LCA5 gene." }, "child_count": 1, "reference_id": "MONDO:0100445" }, { "id": 24174, "label": "ATF6-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026222" ], "synonyms": [ "ATF6 retinopathy", "ATF6-related retinopathy", "ACHM7", "ATF6 achromatopsia", "achromatopsia 7", "achromatopsia caused by mutation in ATF6", "achromatopsia 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 retinopathy caused by biallelic variants in the AFT6 gene." }, "child_count": 1, "reference_id": "MONDO:0100447" }, { "id": 24175, "label": "RAB28-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026223" ], "synonyms": [ "RAB28 retinopathy", "CORD18", "RAB28 cone-rod dystrophy", "cone-rod dystrophy 18", "cone-rod dystrophy caused by mutation in RAB28", "cone-rod dystrophy type 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": "A retinopathy caused by biallelic variants in the RAB28 gene." }, "child_count": 1, "reference_id": "MONDO:0100448" }, { "id": 24176, "label": "FLVCR1-related retinopathy with or without ataxia", "isLeaf": false, "isRoot": false, "parents": [ 19000, 19713 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026224" ], "synonyms": [ "FLVCR1 retinopathy with or without ataxia", "AXPC1", "PCARP", "ataxia, posterior column, with retinitis pigmentosa", "autosomal recessive posterior column ataxia and retinitis pigmentosa", "posterior column ataxia with retinitis pigmentosa", "posterior column ataxia-retinitis pigmentosa syndrome" ], "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 disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene." }, "child_count": 2, "reference_id": "MONDO:0100449" }, { "id": 24179, "label": "RPE65-related dominant retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 2903, 19000 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112144", "GARD:0026226" ], "synonyms": [ "RP87", "dominant RPE65 retinopathy", "retinitis pigmentosa 87 with choroidal involvement" ], "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 retinopathy caused by a heterozygous gain of function variant in the RPE65 gene." }, "child_count": 2, "reference_id": "MONDO:0100452" }, { "id": 24181, "label": "GUCY2D retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026228" ], "synonyms": [ "retinopathy caused by mutation in GUCY2D" ], "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 inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." }, "child_count": 3, "reference_id": "MONDO:0100454" }, { "id": 24619, "label": "PDE6A-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026376" ], "synonyms": [ "PDE6A-related retinopathy" ], "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 retinopathy caused by variants in the PDE6A gene." }, "child_count": 1, "reference_id": "MONDO:0700224" }, { "id": 24622, "label": "ELOVL4-related maculopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026377" ], "synonyms": [ "ELOVL4-related maculopathy" ], "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 maculopathy caused by a variant in the ELOVL4 gene." }, "child_count": 1, "reference_id": "MONDO:0700227" }, { "id": 24624, "label": "MAK-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026379" ], "synonyms": [ "MAK-related retinopathy" ], "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 retinopathy caused by variants in the MAK gene." }, "child_count": 1, "reference_id": "MONDO:0700229" }, { "id": 24627, "label": "KIZ-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026381" ], "synonyms": [ "KIZ-related retinopathy" ], "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 retinopathy caused by variants in the KIZ gene." }, "child_count": 1, "reference_id": "MONDO:0700232" }, { "id": 24628, "label": "TOPORS-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026382" ], "synonyms": [ "TOPORS-related retinopathy" ], "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 retinopathy caused by a variant in the TOPORS gene." }, "child_count": 1, "reference_id": "MONDO:0700233" }, { "id": 24629, "label": "PRPF8-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026383" ], "synonyms": [ "PRPF8-related retinopathy" ], "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 retinopathy caused by a variant in the PRPF8 gene." }, "child_count": 1, "reference_id": "MONDO:0700234" }, { "id": 24630, "label": "RD3-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026384" ], "synonyms": [ "RD3-related retinopathy" ], "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 retinopathy caused by variants in the RD3 gene." }, "child_count": 1, "reference_id": "MONDO:0700235" }, { "id": 24633, "label": "BEST1-related dominant retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026387" ], "synonyms": [ "BEST1-related dominant retinopathy" ], "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 retinopathy caused by a heterozygous variant in the BEST1 gene." }, "child_count": 1, "reference_id": "MONDO:0700238" }, { "id": 24634, "label": "BEST1-related recessive retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026388" ], "synonyms": [ "BEST1-related recessive retinopathy" ], "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 retinopathy caused by bi-allelic variants in the BEST1 gene." }, "child_count": 1, "reference_id": "MONDO:0700239" }, { "id": 24636, "label": "IMPG2-related recessive retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026390" ], "synonyms": [ "IMPG2-related recessive retinopathy" ], "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 retinopathy caused by bi-allelic variants in the IMPG2 gene." }, "child_count": 1, "reference_id": "MONDO:0700241" }, { "id": 24637, "label": "IMPG2-related dominant retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026391" ], "synonyms": [ "IMPG2-related dominant retinopathy" ], "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 retinopathy caused by a heterozygous variant in the IMPG2 gene." }, "child_count": 1, "reference_id": "MONDO:0700242" }, { "id": 24638, "label": "CACNA1F-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026392" ], "synonyms": [ "CACNA1F-related retinopathy" ], "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 retinopathy caused by a variant in the CACNA1F gene." }, "child_count": 3, "reference_id": "MONDO:0700243" }, { "id": 24639, "label": "CACNA2D4-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026393" ], "synonyms": [ "CACNA2D4-related retinopathy" ], "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 retinopathy caused by variants in the CACNA2D4 gene." }, "child_count": 1, "reference_id": "MONDO:0700244" }, { "id": 24748, "label": "CDHR1-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028030" ], "synonyms": [ "CDHR1-related retinopathy" ], "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 retinopathy caused by variants in the CDHR1 gene, including cases diagnosed as cone-rod dystrophy 15, retinal macular dystrophy, or retinitis pigmentosa 65." }, "child_count": 3, "reference_id": "MONDO:0700375" }, { "id": 24749, "label": "GUCA1A-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028031" ], "synonyms": [ "GUCA1A-related retinopathy" ], "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 retinopathy caused by a variant in the GUCA1A gene, including cases diagnosed as cone dystrophy 3 or cone-rod dystrophy 14." }, "child_count": 2, "reference_id": "MONDO:0700376" }, { "id": 24753, "label": "RHO-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028035" ], "synonyms": [ "RHO-related retinopathy" ], "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 retinopathy caused by a variant in the RHO gene, including cases diagnosed as congenital stationary night blindness autosomal dominant 1 or retinitis pigmentosa 4." }, "child_count": 2, "reference_id": "MONDO:0700380" }, { "id": 24808, "label": "SNRNP200-related dominant retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026431" ], "synonyms": [ "SNRNP200-related dominant retinopathy", "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": "A retinopathy caused by heterozygous variants in the SNRNP200 gene." }, "child_count": 1, "reference_id": "MONDO:0800098" }, { "id": 24809, "label": "RDH12-related recessive retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026432" ], "synonyms": [ "RDH12-related recessive retinopathy", "LCA13", "Leber congenital amaurosis 13", "Leber congenital amaurosis caused by mutation in RDH12", "Leber congenital amaurosis type 13", "RDH12 Leber congenital amaurosis", "retinitis pigmentosa 53" ], "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 retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene." }, "child_count": 1, "reference_id": "MONDO:0800099" }, { "id": 24810, "label": "RDH12-related dominant retinopathy", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026433" ], "synonyms": [ "RDH12-related dominant retinopathy" ], "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 retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision." }, "child_count": 0, "reference_id": "MONDO:0800100" }, { "id": 24811, "label": "NMNAT1-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026434" ], "synonyms": [ "NMNAT1-related retinopathy", "LCA9", "Leber congenital amaurosis 9", "Leber congenital amaurosis caused by mutation in NMNAT1", "Leber congenital amaurosis type 9", "NMNAT1 Leber congenital amaurosis", "SHILCA", "SHILCA Syndrome", "spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis", "amaurosis congenita of Leber, type 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": "A retinopathy, typically severe and early onset, caused by biallelic variants in the NMNAT1 gene. Some patients have been reported to have spondyloepiphyseal dysplasia syndrome, including sensorineural hearing loss, intellectual disability in addition to retinopathy. However, additional studies are needed to definitively describe this disease association." }, "child_count": 2, "reference_id": "MONDO:0800101" }, { "id": 24812, "label": "CNGA3-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026435" ], "synonyms": [ "CNGA3-related retinopathy", "ACHM2", "CNGA3 achromatopsia", "RMCH2", "achromatopsia 2", "achromatopsia caused by mutation in CNGA3", "achromatopsia type 2", "rod monochromacy 2", "rod monochromatism 2", "colorblindness, total" ], "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 retinopathy, typically described as achromatopsia, caused by biallelic variants in the CNGA3 gene." }, "child_count": 1, "reference_id": "MONDO:0800102" }, { "id": 24980, "label": "EYS-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026541" ], "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 inherited retinopathy caused by bi-allelic variants in the EYS gene." }, "child_count": 1, "reference_id": "MONDO:0800391" }, { "id": 24981, "label": "GNAT2-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026542" ], "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 inherited retinopathy caused by bi-allelic variants in the GNAT2 gene." }, "child_count": 1, "reference_id": "MONDO:0800392" }, { "id": 24982, "label": "IDH3B-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026543" ], "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 inherited retinopathy caused by bi-allelic variants in the IDH3B gene." }, "child_count": 1, "reference_id": "MONDO:0800393" }, { "id": 24983, "label": "MERTK-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026544" ], "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 inherited retinopathy caused by bi-allelic variants in the MERTK gene." }, "child_count": 1, "reference_id": "MONDO:0800394" }, { "id": 24984, "label": "PRPF31-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026545" ], "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 inherited retinopathy caused by variants in the PRPF31 gene." }, "child_count": 1, "reference_id": "MONDO:0800395" }, { "id": 24985, "label": "GPR179-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026546" ], "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 inherited retinopathy caused by bi-allelic variants in the GPR179 gene." }, "child_count": 1, "reference_id": "MONDO:0800396" }, { "id": 24986, "label": "GRM6-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026547" ], "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 inherited retinopathy caused by bi-allelic variants in the GRM6 gene." }, "child_count": 1, "reference_id": "MONDO:0800397" }, { "id": 24987, "label": "ADAM9-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026548" ], "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 inherited retinopathy caused by bi-allelic variants in the ADAM9 gene." }, "child_count": 1, "reference_id": "MONDO:0800398" }, { "id": 24988, "label": "RP1-related recessive retinopathy", "isLeaf": true, "isRoot": false, "parents": [ 7611, 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026549" ], "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 autosomal dominant retinopathy caused by variants in the RP1 gene." }, "child_count": 0, "reference_id": "MONDO:0800399" }, { "id": 24989, "label": "RP1-related dominant retinopathy", "isLeaf": true, "isRoot": false, "parents": [ 2903, 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026550" ], "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 inherited retinopathy caused by bi-allelic variants in the RP1 gene." }, "child_count": 0, "reference_id": "MONDO:0800400" }, { "id": 24990, "label": "CERKL-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026551" ], "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 inherited retinopathy caused by bi-allelic variants in the CERKL gene." }, "child_count": 1, "reference_id": "MONDO:0800401" }, { "id": 24991, "label": "TRPM1-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026552" ], "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 inherited retinopathy caused by bi-allelic variants in the TRPM1 gene." }, "child_count": 1, "reference_id": "MONDO:0800402" }, { "id": 24992, "label": "CNGB1-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026553" ], "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 inherited retinopathy caused by bi-allelic variants in the CNGB1 gene." }, "child_count": 1, "reference_id": "MONDO:0800403" }, { "id": 24993, "label": "PCARE-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026554" ], "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 inherited retinopathy caused by bi-allelic variants in the PCARE gene." }, "child_count": 1, "reference_id": "MONDO:0800404" }, { "id": 24994, "label": "CNGA1-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026555" ], "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 inherited retinopathy caused by bi-allelic variants in the CNGA1 gene." }, "child_count": 1, "reference_id": "MONDO:0800405" }, { "id": 24995, "label": "ABCA4-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026556" ], "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 inherited retinopathy caused by bi-allelic variants in the ABCA4 gene." }, "child_count": 3, "reference_id": "MONDO:0800406" }, { "id": 24996, "label": "NYX-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0026557" ], "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 X-linked retinopathy caused by variants in the NYX gene." }, "child_count": 1, "reference_id": "MONDO:0800407" }, { "id": 26219, "label": "retinal dystrophy, X-linked, Gardner-Hardcastle type", "isLeaf": true, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028102", "MEDGEN:1876524", "OMIM:301149", "UMLS:C6012691" ], "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:0978292" }, { "id": 29258, "label": "PDE6C-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027235" ], "synonyms": [ "PDE6C-related retinopathy" ], "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 retinopathy caused by variants in the PDE6C gene." }, "child_count": 1, "reference_id": "MONDO:1040028" }, { "id": 29264, "label": "PDE6G-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027237" ], "synonyms": [ "PDE6G-related retinopathy" ], "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 retinopathy caused by variants in the PDE6G gene." }, "child_count": 1, "reference_id": "MONDO:1040034" }, { "id": 29265, "label": "LRIT3-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027238" ], "synonyms": [ "LRIT3-related retinopathy" ], "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 retinopathy caused by variants in the LRIT3 gene." }, "child_count": 1, "reference_id": "MONDO:1040035" }, { "id": 29266, "label": "IMPG1-related dominant retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 2903, 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027239" ], "synonyms": [ "IMPG1-related dominant retinopathy" ], "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 retinopathy caused by an autosomal dominant variant in the IMPG1 gene." }, "child_count": 2, "reference_id": "MONDO:1040036" }, { "id": 29267, "label": "IMPG1-related recessive retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 7611, 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027240" ], "synonyms": [ "IMPG1-related recessive retinopathy" ], "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 retinopathy caused by autosomal recessive variants in the IMPG1 gene." }, "child_count": 2, "reference_id": "MONDO:1040037" }, { "id": 29268, "label": "TTLL5-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027241" ], "synonyms": [ "TTLL5-related retinopathy" ], "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 retinopathy caused by variants in the TTLL5 gene." }, "child_count": 1, "reference_id": "MONDO:1040038" }, { "id": 29270, "label": "HGSNAT-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027242" ], "synonyms": [ "HGSNAT-related retinopathy" ], "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 isolated retinopathy caused by variants in the HGSNAT gene." }, "child_count": 1, "reference_id": "MONDO:1040040" }, { "id": 29281, "label": "IMPDH1-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027253" ], "synonyms": [ "IMPDH1-related retinopathy" ], "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 retinopathy caused by a variant in the IMPDH1 gene." }, "child_count": 2, "reference_id": "MONDO:1040051" }, { "id": 29285, "label": "PRPH2-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027257" ], "synonyms": [ "PRPH2-related retinopathy" ], "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 retinopathy caused by a variant or variants in the PRPH2 gene." }, "child_count": 7, "reference_id": "MONDO:1040055" }, { "id": 29286, "label": "PROM1-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0027258" ], "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 retinopathy caused by variants in the PROM1 gene." }, "child_count": 3, "reference_id": "MONDO:1040056" }, { "id": 29287, "label": "KCNV2-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028144" ], "synonyms": [ "KCNV2-related retinopathy" ], "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 retinopathy caused by variants in the KCNV2 gene." }, "child_count": 1, "reference_id": "MONDO:1040063" }, { "id": 29288, "label": "CRX-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028145" ], "synonyms": [ "CRX-related retinopathy" ], "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 retinopathy caused by a variant in the CRX gene." }, "child_count": 2, "reference_id": "MONDO:1040064" }, { "id": 29290, "label": "REEP6-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028147" ], "synonyms": [ "REEP6-related retinopathy" ], "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 retinopathy caused by variants in the REEP6 gene." }, "child_count": 1, "reference_id": "MONDO:1040066" }, { "id": 29292, "label": "SPATA7-related retinopathy", "isLeaf": false, "isRoot": false, "parents": [ 19000 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0028149" ], "synonyms": [ "SPATA7-related retinopathy" ], "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 retinopathy caused by variants in the SPATA7 gene." }, "child_count": 2, "reference_id": "MONDO:1040070" } ], "roots": [ { "id": 6377, "label": "retinal degeneration" }, { "id": 21402, "label": "perceptual disorders" }, { "id": 24270, "label": "hereditary neurological disease" } ] }