{"Name":"Oculoauricular syndrome","DiseaseID__c":"GARD:0016988","id":16988,"encodedName":"oculoauricular-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Oculoauricular syndrome","Xref_IDs__c":"C2677500; C567416; DOID:0060482; MEDGEN:393758; MONDO:0012802; OMIM:612109; ORPHA:157962","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012802","Disease_Description__c":"Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).","GARD_Name__c":"Oculoauricular syndrome","GARD_Synonym__c":"microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear; ocacs; oculoauricular syndrome, schorderet type; schorderet-munier-franceschetti syndrome","Curated_Disease_Description_Source__c":"MONDO:0012802","Curated_Disease_Description__c":"Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:157962","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012802","ORPHANET_ID__c":"ORPHA:157962","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome oculoauricular tipo schorderet","Spanish_Description_Source__c":"ORPHA:157962","Spanish_Description__c":"El síndrome oculoauricular, tipo Schorderet, es un defecto genético del desarrollo durante la embriogénesis poco frecuente caracterizado por diversas anomalías oftálmicas (incluyendo microftalmia congénita, microcórnea, catarata, disgenesia del segmento anterior, coloboma ocular y distrofia de conos-bastones de inicio temprano) y anomalías auriculares externas (pinna de baja implantación con hélix arrugado, escotaduras intertrágicas estrechas, anomalía del puente que conecta el crus del hélix y el anti-hélix, meato auditivo externo estrecho y aplasia del lóbulo).","Spanish_Disease_Name__c":"síndrome oculoauricular tipo schorderet","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97966","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).","Curated_Disease_Description_Source__c":"MONDO:0012802","GARD_Synonym__c":"microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear; ocacs; oculoauricular syndrome, schorderet type; schorderet-munier-franceschetti syndrome","Name":"Oculoauricular syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:157962"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:157962"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567416","Source__c":"MONDO:0012802","Xref__c":"C567416"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060482","Source__c":"MONDO:0012802","Xref__c":"DOID:0060482"},{"URL__c":"https://www.orpha.net/en/disease/detail/157962","Source__c":"C2677500; MONDO:0012802","Xref__c":"ORPHA:157962"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=393758","Source__c":"C2677500","Xref__c":"MEDGEN:393758"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2677500","Source__c":"C2677500","Xref__c":"C2677500"},{"URL__c":"https://www.omim.org/entry/612109","Source__c":"C2677500; MONDO:0012802; ORPHA:157962","Xref__c":"OMIM:612109"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012802","Source__c":"GARD:0016988","Xref__c":"MONDO:0012802"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HMX1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the macula lutea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001104","HPO_Name__c":"Macular hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A coloboma of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000612","HPO_Synonym__c":"Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris","HPO_Name__c":"Iris coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000548","HPO_Synonym__c":"Cone rod dystrophy; Cone-rod retinal dystrophy","HPO_Name__c":"Cone/cone-rod dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000387","HPO_Synonym__c":"Absent ear lobes; Absent earlobe; Earlobe, absent; Lobeless ears; Lobule aplasia","HPO_Name__c":"Absent earlobe","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nystagmus dating from or present at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006934","HPO_Name__c":"Congenital nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000482","HPO_Synonym__c":"Cornea of eye less than 10mm in diameter; Decreased corneal diameter","HPO_Name__c":"Microcornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000667","HPO_Name__c":"Phthisis bulbi","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Adhesions between the iris and the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011484","HPO_Synonym__c":"Iridolenticular adhesions; Posterior synechiae","HPO_Name__c":"Posterior synechiae of the anterior chamber","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A notch or cleft of the retina or choroid, located vertically below the optic disc.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000480","HPO_Synonym__c":"Hole in the back of the eye","HPO_Name__c":"Retinal coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of a region of the retina, retinal pigment epithelium, and choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000567","HPO_Synonym__c":"Birth defect that causes a hole in the innermost layer at the back of the eye; Choroidoretinal coloboma","HPO_Name__c":"Chorioretinal coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Blockage of the lacrimal duct.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000579","HPO_Synonym__c":"Blocked tear duct; Lacrimal duct obstruction","HPO_Name__c":"Nasolacrimal duct obstruction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003778","HPO_Synonym__c":"Short body and ramus of mandible; Short mandibular ramus; Underdeveloped mandibular rami","HPO_Name__c":"Short mandibular rami","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003298","HPO_Synonym__c":"Hidden spina bifida","HPO_Name__c":"Spina bifida occulta","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007700","HPO_Synonym__c":"Anterior chamber cleavage defect; Anterior chamber cleavage disorder; Anterior chamber malformation; Anterior chamber mesodermal anomalies; Anterior segment developmental abnormality; Anterior segment dysgenesis; Anterior segment mesencyhmal dysgenesis; Anterior segment ocular dysgenesis","HPO_Name__c":"Ocular anterior segment dysgenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing of the external auditory canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000402","HPO_Synonym__c":"External auditory canal stenosis; Narrow auditory canals; Narrow external auditory canals; Narrow external auditory meatus; Narrowing of passageway from outer ear to middle ear; Stenotic external auditory canal","HPO_Name__c":"Stenosis of the external auditory canal","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","Feature__r":{"HPO_Description__c":"Intraocular pressure that is 2 standard deviations above the population mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007906","HPO_Synonym__c":"Elevated intraocular pressure; Elevated IOP; High eye pressure; Increased intraocular pressure; Increased IOP; Raised intraocular pressure; Raised IOP","HPO_Name__c":"Ocular hypertension","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","Feature__r":{"HPO_Description__c":"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000510","HPO_Synonym__c":"Retinitis pigmentosa; Rod cone dystrophy","HPO_Name__c":"Rod-cone dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An iris cyst is composed of a single cell layer of epithelium and is filled with fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011523","HPO_Name__c":"Iris cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ultra-low vision but with retained ability to perceive the difference between light and dark.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032286","HPO_Name__c":"Ultra-low vision with retained light perception","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025514","HPO_Synonym__c":"Morning glory disk anomaly; Morning glory optic disc","HPO_Name__c":"Morning glory anomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal smallness of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012376","HPO_Synonym__c":"Small lens","HPO_Name__c":"Microphakia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nystagmus consisting of horizontal to-and-fro eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000666","HPO_Synonym__c":"Nystagmus, horizontal","HPO_Name__c":"Horizontal nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000647","HPO_Synonym__c":"Hardening of skin and connective tissue","HPO_Name__c":"Sclerocornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000627","HPO_Synonym__c":"Embryotoxon","HPO_Name__c":"Posterior embryotoxon","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting) of the choroid and retinal layers of the fundus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000533","HPO_Synonym__c":"Chorioretinal degeneration; Chorioretinal thinning","HPO_Name__c":"Chorioretinal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020049","HPO_Synonym__c":"Divergent strabismus","HPO_Name__c":"Exodeviation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612109","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000519","HPO_Synonym__c":"Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral","HPO_Name__c":"Developmental cataract","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Pediatrics"]},"synonyms":["microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear"," ocacs"," oculoauricular syndrome, schorderet type"," schorderet-munier-franceschetti syndrome"]}