{ "id": 21415, "label": "disorder of visual system", "model": { "label": "Mondo Disease Ontology (MONDO)", "source": 0 }, "type_id": 0, "reference_id": "MONDO:0024458", "properties": { "xrefs": [ "SCTID:128127008" ], "synonyms": [ "disease of visual system", "disease or disorder of visual system", "disorder of visual system", "visual system disease", "visual system disease or disorder", "visual system disorder" ], "categories": [ { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A disease that involves the visual system." }, "isLeaf": false, "isRoot": false, "child_count": 30, "parents": [ { "id": 29379, "label": "disease by body system or component", "isLeaf": false, "isRoot": false, "parents": [ 24492 ], "type_id": 0, "properties": { "definition": "A grouping class for human diseases classified by the body system or anatomical component primarily affected." }, "child_count": 19, "reference_id": "MONDO:7770006" } ], "children": [ { "id": 3541, "label": "oculomotor nerve paralysis", "isLeaf": false, "isRoot": false, "parents": [ 4811, 5451, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:11550", "GARD:0019544", "MEDGEN:14459", "NCIT:C27597", "Orphanet:98685", "SCTID:388980004", "UMLS:C0028866" ], "synonyms": [ "IIIrd nerve paralysis", "cranial nerve palsy of oculomotor nerve", "oculomotor nerve cranial nerve palsy", "oculomotor nerve paralysis", "oculomotor palsy" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Paralysis of the oculomotor nerve." }, "child_count": 15, "reference_id": "MONDO:0001309" }, { "id": 4268, "label": "optic nerve disorder", "isLeaf": false, "isRoot": false, "parents": [ 4657, 5469, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1891", "ICD9:377.49", "ICD9:377.9", "MEDGEN:854546", "MESH:D009901", "NCIT:C79698", "SCTID:77157004", "UMLS:C3887709" ], "synonyms": [ "cranial nerve II disease", "cranial nerve II disease or disorder", "disease of cranial nerve II", "disease or disorder of cranial nerve II", "disorder of cranial nerve II", "optic nerve disorder", "second cranial nerve disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve)." }, "child_count": 24, "reference_id": "MONDO:0002135" }, { "id": 6517, "label": "myopathy of extraocular muscle", "isLeaf": false, "isRoot": false, "parents": [ 2924, 7023, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:929", "GARD:0024100", "ICD10CM:H05.82", "ICD9:376.82", "MEDGEN:509895", "SCTID:57130002", "UMLS:C0155286" ], "synonyms": [ "extra-ocular muscle myopathy", "myopathy of extra-ocular muscle", "myopathy of extraocular muscles" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A myopathy that involves the extra-ocular muscle." }, "child_count": 9, "reference_id": "MONDO:0004746" }, { "id": 7019, "label": "eye disorder", "isLeaf": false, "isRoot": false, "parents": [ 4171, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:1242", "DOID:5614", "EFO:0003966", "ICD9:360", "ICD9:360.29", "ICD9:360.89", "ICD9:360.9", "ICD9:379.8", "ICD9:379.90", "MEDGEN:5092", "MESH:D005128", "NCIT:C26767", "SCTID:371405004", "UMLS:C0015397" ], "synonyms": [ "disease of eye", "disease of eyeball of camera-type eye", "disease or disorder of eyeball of camera-type eye", "disorder of eye", "disorder of eyeball of camera-type eye", "eye disease", "eye disorder", "eyeball of camera-type eye disease", "eyeball of camera-type eye disease or disorder", "globe disease", "disease of eyeball", "disorder of eye proper", "disorder of eyeball", "disorder of globe" ], "categories": [ { "ref": "MONDO:0002022", "name": "disorder of orbital region" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma." }, "child_count": 240, "reference_id": "MONDO:0005328" }, { "id": 8776, "label": "Stern-Lubinsky-Durrie syndrome", "isLeaf": true, "isRoot": false, "parents": [ 19138, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001531", "MEDGEN:342260", "MESH:C537488", "OMIM:122440", "Orphanet:3194", "SCTID:723584003", "UMLS:C1852542", "icd11.foundation:1754695879" ], "synonyms": [ "corneo-dermato-osseous syndrome", "CORNEODERMATOOSSEOUS syndrome", "Cdo syndrome", "Stern Lubinsky Durrie syndrome", "corneal dystrophy epithelial and short stature", "corneal dystrophy, epithelial, with skin and skeletal changes" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Stern-Lubinsky-Durrie syndrome is characterized by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait." }, "child_count": 0, "reference_id": "MONDO:0007383" }, { "id": 9276, "label": "jaw-winking syndrome", "isLeaf": false, "isRoot": false, "parents": [ 4370, 5469, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:560", "GARD:0006972", "ICD9:374.43", "ICD9:742.8", "MEDGEN:120582", "MESH:C535908", "MedDRA:10064583", "NORD:1401", "OMIM:154600", "Orphanet:91412", "SCTID:5127009", "UMLS:C0266521", "icd11.foundation:590216180" ], "synonyms": [ "Marcus Gunn Phenomenon", "Marcus Gunn phenomenon", "Marcus Gunn syndrome", "Marcus-Gunn phenomenon", "Marcus-Gunn syndrome", "Maxillopalpebral synkinesis", "jaw-winking", "jaw-winking syndrome", "mandibulo-palpebral synkinesis-ptosis syndrome", "abnormal innervation syndrome of eyelid", "familial Marcus Gunn phenomenon (subtype)" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Marcus-Gunn syndrome is characterized by ptosis associated with maxillopalpebral synkinesis." }, "child_count": 6, "reference_id": "MONDO:0007946" }, { "id": 10067, "label": "aniridia-renal agenesis-psychomotor retardation syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 16087, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000690", "MEDGEN:347952", "MESH:C000598722", "OMIM:206750", "Orphanet:1064", "SCTID:733116005", "UMLS:C1859782" ], "synonyms": [ "Sommer-Rathbun-Battles syndrome", "Sommer Rathbun Battles syndrome", "aniridia partial with unilateral renal agenesis and psychomotor retardation", "aniridia renal agenesis psychomotor retardation", "aniridia, partial, with unilateral renal agenesis and psychomotor retardation" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974." }, "child_count": 0, "reference_id": "MONDO:0008796" }, { "id": 10190, "label": "colobomatous optic disc-macular atrophy-chorioretinopathy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0080635", "GARD:0017719", "MEDGEN:894574", "MESH:C565876", "OMIM:212550", "Orphanet:435930", "UMLS:C4225424" ], "synonyms": [ "ODRMD", "optic DISC anomalies with retinal and/or macular dystrophy" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "A rare genetic eye disease characterized by optic disk anomalies (bilateral colobomatous optic disks, retinal vessels arising from the peripheral optic disk) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity." }, "child_count": 0, "reference_id": "MONDO:0008927" }, { "id": 10276, "label": "cortical blindness-intellectual disability-polydactyly syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001548", "MEDGEN:347487", "MESH:C565674", "OMIM:218010", "Orphanet:1389", "UMLS:C1857568" ], "synonyms": [ "cortical blindness, retardation, and postaxial polydactyly" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "This syndrome is characterized by cortical blindness, intellectual deficit, and polydactyly." }, "child_count": 0, "reference_id": "MONDO:0009024" }, { "id": 10706, "label": "Joubert syndrome with oculorenal defect", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16225, 19709, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009455", "MEDGEN:340930", "MESH:C537430", "NANDO:1200662", "OMIM:243910", "Orphanet:2318", "SCTID:721862000", "UMLS:C1855675", "icd11.foundation:397835469" ], "synonyms": [ "Arima syndrome", "CORS", "Cerebellooculorenal syndrome", "Dekaban-Arima syndrome", "JS type B", "JS-OR", "Joubert syndrome with Senior-Loken syndrome", "Joubert syndrome with oculorenal defect", "Dekaban Arima syndrome", "Joubert syndrome 5", "Joubert syndrome with bilateral chorioretinal coloboma", "Joubert syndrome with oculorenal anomalies", "cerebello-oculo-renal syndrome", "cerebro-oculo-hepato-renal syndrome", "cerebrooculohepatorenal syndrome", "chorioretinal coloboma with cerebellar vermis aplasia", "coloboma, chorioretinal, with cerebellar vermis aplasia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease." }, "child_count": 20, "reference_id": "MONDO:0009480" }, { "id": 10803, "label": "Mietens syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16088, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0061196", "GARD:0003524", "ICD9:759.89", "MEDGEN:82695", "MESH:C537444", "OMIM:249600", "Orphanet:2557", "SCTID:40291001", "UMLS:C0265249", "icd11.foundation:1399358623" ], "synonyms": [ "intellectual disability, Mietens-Weber type", "Mietens-Weber syndrome", "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability", "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation", "intellectual disability syndrome, Mietens Weber type", "intellectual disability syndrome, Mietens-WEBER type", "mental retardation syndrome, Mietens Weber type", "mental retardation syndrome, Mietens-WEBER type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii." }, "child_count": 0, "reference_id": "MONDO:0009582" }, { "id": 11199, "label": "EEC syndrome", "isLeaf": false, "isRoot": false, "parents": [ 2903, 4370, 18362, 18956, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0060782", "GARD:0002076", "MEDGEN:98357", "MESH:C536189", "NCIT:C148261", "NORD:1079", "OMIM:268650", "Orphanet:1896", "SCTID:39788007", "UMLS:C0406704" ], "synonyms": [ "Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate", "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome", "ectrodactyly-ectodermal dysplasia-cleft syndrome", "RUDIGER syndrome", "ectrodactyly-cleft lip/palate syndrome", "ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate", "ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)." }, "child_count": 10, "reference_id": "MONDO:0010004" }, { "id": 11253, "label": "spastic ataxia-corneal dystrophy syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 18064, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003795", "MEDGEN:336493", "MESH:C536989", "OMIM:271320", "Orphanet:2572", "SCTID:715465001", "UMLS:C1849085" ], "synonyms": [ "Bedouin spastic ataxia syndrome", "Mousa-Al Din-Al Nassar syndrome", "spastic ataxia-ocular anomalies syndrome", "Mousa Al din Al Nassar syndrome", "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs", "spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted disks", "spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Mousa-AlDin-AlNassar syndrome is characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia." }, "child_count": 0, "reference_id": "MONDO:0010064" }, { "id": 11363, "label": "oculogastrointestinal muscular dystrophy", "isLeaf": true, "isRoot": false, "parents": [ 20415, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0005496", "MEDGEN:336376", "OMIM:277320", "Orphanet:1876", "SCTID:722060007", "UMLS:C1848586", "icd11.foundation:1205053137" ], "synonyms": [ "visceral myopathy-familial external ophthalmoplegia syndrome", "familial visceral myopathy with external ophthalmoplegia", "intestinal pseudoobstruction with external ophthalmoplegia", "muscular dystrophy, oculogastrointestinal", "visceral myopathy - familial external ophthalmoplegia", "visceral myopathy, familial, with external ophthalmoplegia" ], "categories": [ { "ref": "MONDO:0004335", "name": "digestive system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction." }, "child_count": 0, "reference_id": "MONDO:0010181" }, { "id": 11399, "label": "CHIME syndrome", "isLeaf": true, "isRoot": false, "parents": [ 16087, 16198, 16607, 17977, 19138, 21415, 24272 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0112152", "GARD:0000310", "MEDGEN:341214", "MESH:C536729", "OMIM:280000", "Orphanet:3474", "SCTID:720639008", "UMLS:C1848392" ], "synonyms": [ "CHIME syndrome", "PIGL-CDG", "Zunich-Kaye syndrome", "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome", "congenital disorder of glycosylation due to PIGL deficiency", "neuroectodermal dysplasia, CHIME type", "neuroectodermal syndrome, Zunich type", "CHIME", "Zunich neuroectodermal syndrome", "coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome", "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome", "glycosylphosphatidylinositol biosynthesis defect 5" ], "categories": [ { "ref": "MONDO:0002051", "name": "integumentary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy." }, "child_count": 0, "reference_id": "MONDO:0010221" }, { "id": 11924, "label": "Kearns-Sayre syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6902, 16878, 16918, 19748, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:12934", "GARD:0006817", "ICD10CM:H49.81", "MEDGEN:9618", "MESH:D007625", "MedDRA:10048804", "NANDO:1201064", "NANDO:2200529", "NCIT:C84798", "NORD:1323", "OMIM:530000", "Orphanet:480", "SCTID:25792000", "UMLS:C0022541", "icd11.foundation:399100745" ], "synonyms": [ "Kearns Sayre Syndrome", "Kearns-Sayre syndrome", "CPEO with myopathy", "CPEO with ragged red fibers", "CPEO with ragged red fibres", "CPEO with ragged-Red fibers", "CPEO with ragged-Red fibres", "KSS", "chronic progressive external ophthalmoplegia with myopathy", "mitochondrial Cytopathy", "oculocraniosomatic syndrome", "ophthalmoplegia plus syndrome", "ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy", "ophthalmoplegia, progressive external, with ragged red fibers", "ophthalmoplegia, progressive external, with ragged red fibres", "ophthalmoplegia, progressive external, with ragged-Red fibers", "ophthalmoplegia, progressive external, with ragged-Red fibres", "ophthalmoplegia-plus syndrome" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block." }, "child_count": 0, "reference_id": "MONDO:0010787" }, { "id": 11961, "label": "atrioventricular defect-blepharophimosis-radial and anal defect syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 6967, 16089, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0002742", "MEDGEN:374010", "MESH:C563994", "OMIM:600123", "Orphanet:1352", "UMLS:C1838606" ], "synonyms": [ "Houlston-Ironton-Temple syndrome", "atrioventricular septal defect with blepharophimosis and anal and radial defects" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0004995", "name": "cardiovascular disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects." }, "child_count": 0, "reference_id": "MONDO:0010825" }, { "id": 12324, "label": "RHYNS syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16626, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0009681", "MEDGEN:356371", "MESH:C537612", "OMIM:602152", "Orphanet:140976", "SCTID:723999009", "UMLS:C1865794" ], "synonyms": [ "RHYNS syndrome", "retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome", "retinitis pigmentosa syndrome", "retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia" ], "categories": [ { "ref": "MONDO:0002118", "name": "urinary system disorder" }, { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "RHYNS syndrome is characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia." }, "child_count": 0, "reference_id": "MONDO:0011202" }, { "id": 12359, "label": "colobomatous macrophthalmia-microcornea syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017844", "MEDGEN:400728", "MESH:C566533", "OMIM:602499", "Orphanet:468672", "UMLS:C1865286" ], "synonyms": [ "MACOM syndrome", "MACOM", "macrophthalmia, colobomatous, with microcornea" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0011239" }, { "id": 13779, "label": "microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010300", "MEDGEN:394835", "MESH:C567512", "OMIM:611863", "Orphanet:139450", "UMLS:C2678482" ], "synonyms": [ "Balikova-Vermeesch syndrome", "microtia eye coloboma and imperforation of the nasolacrimal duct", "microtia with nasolacrimal duct imperforation and eye coloboma" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct." }, "child_count": 0, "reference_id": "MONDO:0012739" }, { "id": 15127, "label": "intellectual disability-strabismus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0081099", "GARD:0017563", "MEDGEN:1665943", "OMIM:615286", "Orphanet:363528", "UMLS:C4750838" ], "synonyms": [ "intellectual disability, autosomal recessive type 36", "mental retardation, autosomal recessive type 36", "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies", "MRT36", "intellectual disability, autosomal recessive 36", "mental retardation, autosomal recessive 36" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0014119" }, { "id": 15739, "label": "familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0017888", "MEDGEN:903733", "OMIM:616722", "Orphanet:488197", "UMLS:C4225493" ], "synonyms": [ "retinal dystrophy and iris coloboma with or without cataract", "RDICC", "retinal dystrophy and iris coloboma with or without congenital cataract" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0014747" }, { "id": 16113, "label": "ankyloblepharon filiforme-imperforate anus syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 19507, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0000697", "MEDGEN:1666000", "Orphanet:1074", "UMLS:C4751231" ], "synonyms": [ "Aughton-Hufnagle syndrome", "ankyloblepharon filiforme adnatum-imperforate anus syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993." }, "child_count": 0, "reference_id": "MONDO:0015201" }, { "id": 16375, "label": "cataract-glaucoma syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0001160", "MEDGEN:930800", "Orphanet:162", "SCTID:718851007", "UMLS:C4305131" ], "synonyms": [ "cataract - glaucoma" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years." }, "child_count": 0, "reference_id": "MONDO:0015567" }, { "id": 16896, "label": "Joubert syndrome with ocular defect", "isLeaf": false, "isRoot": false, "parents": [ 4370, 16225, 19709, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0010168", "MEDGEN:909607", "Orphanet:220493", "SCTID:716998009", "UMLS:C4274118", "icd11.foundation:1358617785" ], "synonyms": [ "JS-O", "Joubert syndrome with retinopathy", "JBTS3", "Joubert syndrome 3", "Joubert syndrome with ocular anomalies" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy." }, "child_count": 20, "reference_id": "MONDO:0016364" }, { "id": 17205, "label": "microcephaly-microcornea syndrome, Seemanova type", "isLeaf": true, "isRoot": false, "parents": [ 4370, 16087, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0003627", "MEDGEN:419433", "MESH:C537539", "Orphanet:2528", "SCTID:715464002", "UMLS:C2931524", "icd11.foundation:1197077842" ], "synonyms": [ "Seemanova-Lesny syndrome", "Seemanova Lesny syndrome", "X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation", "microcephaly microcornea syndrome Seemanova type" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Microcephaly-microcornea syndrome, Seemanova type is characterized by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait." }, "child_count": 0, "reference_id": "MONDO:0016760" }, { "id": 17424, "label": "osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome", "isLeaf": true, "isRoot": false, "parents": [ 4370, 5714, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0018776", "Orphanet:2653", "SCTID:722108000" ], "synonyms": [ "Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome" ], "categories": [ { "ref": "MONDO:0002254", "name": "syndromic disease" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance." }, "child_count": 0, "reference_id": "MONDO:0017041" }, { "id": 17625, "label": "ocular albinism", "isLeaf": false, "isRoot": false, "parents": [ 18283, 21415 ], "type_id": 0, "properties": { "xrefs": [ "DOID:0050633", "GARD:0021124", "HP:0001107", "ICD10CM:E70.31", "ICD9:270.2", "MEDGEN:38147", "MESH:D016117", "MedDRA:10065276", "NORD:1516", "Orphanet:284804", "SCTID:26399002", "UMLS:C0078917", "icd11.foundation:1147926040" ], "synonyms": [ "ocular albinism", "ocular albinism (disease)", "XLOA" ], "categories": [ { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity." }, "child_count": 6, "reference_id": "MONDO:0017304" }, { "id": 18930, "label": "maternally-inherited progressive external ophthalmoplegia", "isLeaf": true, "isRoot": false, "parents": [ 10856, 16918, 21415 ], "type_id": 0, "properties": { "xrefs": [ "GARD:0016479", "Orphanet:663" ], "synonyms": [ "maternally-inherited CPEO", "maternally-inherited chronic progressive external ophthalmoplegia" ], "categories": [ { "ref": "MONDO:0002081", "name": "musculoskeletal system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ] }, "child_count": 0, "reference_id": "MONDO:0019016" }, { "id": 20325, "label": "vision disorder", "isLeaf": false, "isRoot": false, "parents": [ 21402, 21415 ], "type_id": 0, "properties": { "xrefs": [ "MEDGEN:12103", "MESH:D014786", "MedDRA:10047518", "NCIT:C35126", "SCTID:95677002", "UMLS:C0042790" ], "synonyms": [ "disorder of visual system", "visual system disorder", "disorder of vision", "vision disorder", "visual disorder", "visual Field disorder" ], "categories": [ { "ref": "MONDO:0005071", "name": "nervous system disorder" }, { "ref": "MONDO:0024458", "name": "disorder of visual system" } ], "definition": "Any impairment to the vision." }, "child_count": 14, "reference_id": "MONDO:0021084" } ], "roots": [ { "id": 29379, "label": "disease by body system or component" } ] }