{ "disease_id": "DOID:0050155", "recommended_name": { "id": "DOID:0050155", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050155", "name": "sensory system disease", "description": "A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell)." }, "synonyms": [], "children": [ { "id": "DOID:0060030", "label": "autoimmune disease of eyes, ear, nose and throat", "link_status": false, "children": [ { "id": "DOID:0040088", "label": "autoimmune uveitis", "link_status": true, "children": [] }, { "id": "DOID:0081120", "label": "Graves ophthalmopathy", "link_status": true, "children": [] } ] }, { "id": "DOID:0060116", "label": "sensory system cancer", "link_status": false, "children": [ { "id": "DOID:2174", "label": "ocular cancer", "link_status": false, "children": [ { "id": "DOID:3479", "label": "uveal cancer", "link_status": false, "children": [ { "id": "DOID:6039", "label": "uveal melanoma", "link_status": true, "children": [] } ] }, { "id": "DOID:4645", "label": "retinal cancer", "link_status": false, "children": [ { "id": "DOID:771", "label": "retinal cell cancer", "link_status": false, "children": [ { "id": "DOID:768", "label": "retinoblastoma", "link_status": true, "children": [ { "id": "DOID:4648", "label": "familial retinoblastoma", "link_status": true, "children": [] } ] } ] } ] }, { "id": "DOID:5467", "label": "conjunctival cancer", "link_status": false, "children": [ { "id": "DOID:1748", "label": "conjunctival squamous cell carcinoma", "link_status": true, "children": [] } ] } ] } ] }, { "id": "DOID:0112240", "label": "Leber congenital amaurosis with early-onset deafness", "link_status": true, "children": [] }, { "id": "DOID:2742", "label": "auditory system disease", "link_status": true, "children": [ { "id": "DOID:0050563", "label": "nonsyndromic deafness", "link_status": true, "children": [ { "id": "DOID:0050564", "label": "autosomal dominant nonsyndromic deafness", "link_status": true, "children": [ { "id": "DOID:0060690", "label": "autosomal dominant auditory neuropathy 1", "link_status": true, "children": [] }, { "id": "DOID:0070601", "label": "autosomal dominant nonsyndromic deafness 37", "link_status": true, "children": [] }, { "id": "DOID:0070602", "label": "autosomal dominant nonsyndromic deafness 80", "link_status": true, "children": [] }, { "id": "DOID:0070603", "label": "autosomal dominant nonsyndromic deafness 82", "link_status": true, "children": [] }, { "id": "DOID:0070604", "label": "autosomal dominant nonsyndromic deafness 84", "link_status": true, "children": [] }, { "id": "DOID:0070605", "label": "autosomal dominant nonsyndromic deafness 85", "link_status": true, "children": [] }, { "id": "DOID:0070606", "label": "autosomal dominant nonsyndromic deafness 87", "link_status": true, "children": [] }, { "id": "DOID:0070607", "label": "autosomal dominant nonsyndromic deafness 90", "link_status": true, "children": [] }, { "id": "DOID:0070608", "label": "autosomal dominant nonsyndromic deafness 81", "link_status": true, "children": [] }, { "id": "DOID:0070609", "label": "autosomal dominant nonsyndromic deafness 83", "link_status": true, "children": [] }, { "id": "DOID:0070610", "label": "autosomal dominant nonsyndromic deafness 86", "link_status": true, "children": [] }, { "id": "DOID:0070611", "label": "autosomal dominant nonsyndromic deafness 88", "link_status": true, "children": [] }, { "id": "DOID:0070612", "label": "autosomal dominant nonsyndromic deafness 89", "link_status": true, "children": [] }, { "id": "DOID:0080267", "label": "autosomal dominant nonsyndromic deafness 71", "link_status": true, "children": [] }, { "id": "DOID:0080268", "label": "autosomal dominant nonsyndromic deafness 72", "link_status": true, "children": [] }, { "id": "DOID:0080269", "label": "autosomal dominant nonsyndromic deafness 73", "link_status": true, "children": [] }, { "id": "DOID:0080270", "label": "autosomal dominant nonsyndromic deafness 34", "link_status": true, "children": [] }, { "id": "DOID:0110541", "label": "autosomal dominant nonsyndromic deafness 1", "link_status": true, "children": [] }, { "id": "DOID:0110542", "label": "autosomal dominant nonsyndromic deafness 10", "link_status": true, "children": [] }, { "id": "DOID:0110543", "label": "autosomal dominant nonsyndromic deafness 11", "link_status": true, "children": [] }, { "id": "DOID:0110544", "label": "autosomal dominant nonsyndromic deafness 12", "link_status": true, "children": [] }, { "id": "DOID:0110545", "label": "autosomal dominant nonsyndromic deafness 13", "link_status": true, "children": [] }, { "id": "DOID:0110546", "label": "autosomal dominant nonsyndromic deafness 15", "link_status": true, "children": [] }, { "id": "DOID:0110548", "label": "autosomal dominant nonsyndromic deafness 17", "link_status": true, "children": [] }, { "id": "DOID:0110550", "label": "autosomal dominant nonsyndromic deafness 20", "link_status": true, "children": [] }, { "id": "DOID:0110551", "label": "autosomal dominant nonsyndromic deafness 21", "link_status": true, "children": [] }, { "id": "DOID:0110552", "label": "autosomal dominant nonsyndromic deafness 22", "link_status": true, "children": [] }, { "id": "DOID:0110553", "label": "autosomal dominant nonsyndromic deafness 23", "link_status": true, "children": [] }, { "id": "DOID:0110555", "label": "autosomal dominant nonsyndromic deafness 25", "link_status": true, "children": [] }, { "id": "DOID:0110556", "label": "autosomal dominant nonsyndromic deafness 27", "link_status": true, "children": [] }, { "id": "DOID:0110557", "label": "autosomal dominant nonsyndromic deafness 28", "link_status": true, "children": [] }, { "id": "DOID:0110558", "label": "autosomal dominant nonsyndromic deafness 2A", "link_status": true, "children": [] }, { "id": "DOID:0110559", "label": "autosomal dominant nonsyndromic deafness 2B", "link_status": true, "children": [] }, { "id": "DOID:0110563", "label": "autosomal dominant nonsyndromic deafness 36", "link_status": true, "children": [] }, { "id": "DOID:0110564", "label": "autosomal dominant nonsyndromic deafness 3A", "link_status": true, "children": [] }, { "id": "DOID:0110565", "label": "autosomal dominant nonsyndromic deafness 3B", "link_status": true, "children": [] }, { "id": "DOID:0110566", "label": "autosomal dominant nonsyndromic deafness 40", "link_status": true, "children": [] }, { "id": "DOID:0110567", "label": "autosomal dominant nonsyndromic deafness 41", "link_status": true, "children": [] }, { "id": "DOID:0110569", "label": "autosomal dominant nonsyndromic deafness 44", "link_status": true, "children": [] }, { "id": "DOID:0110573", "label": "autosomal dominant nonsyndromic deafness 4A", "link_status": true, "children": [] }, { "id": "DOID:0110574", "label": "autosomal dominant nonsyndromic deafness 4B", "link_status": true, "children": [] }, { "id": "DOID:0110575", "label": "autosomal dominant nonsyndromic deafness 5", "link_status": true, "children": [] }, { "id": "DOID:0110581", "label": "autosomal dominant nonsyndromic deafness 56", "link_status": true, "children": [] }, { "id": "DOID:0110584", "label": "autosomal dominant nonsyndromic deafness 6", "link_status": true, "children": [] }, { "id": "DOID:0110585", "label": "autosomal dominant nonsyndromic deafness 64", "link_status": true, "children": [] }, { "id": "DOID:0110586", "label": "autosomal dominant nonsyndromic deafness 65", "link_status": true, "children": [] }, { "id": "DOID:0110587", "label": "autosomal dominant nonsyndromic deafness 66", "link_status": true, "children": [] }, { "id": "DOID:0110588", "label": "autosomal dominant nonsyndromic deafness 67", "link_status": true, "children": [] }, { "id": "DOID:0110589", "label": "autosomal dominant nonsyndromic deafness 68", "link_status": true, "children": [] }, { "id": "DOID:0110590", "label": "autosomal dominant nonsyndromic deafness 69", "link_status": true, "children": [] }, { "id": "DOID:0110591", "label": "autosomal dominant nonsyndromic deafness 7", "link_status": true, "children": [] }, { "id": "DOID:0110592", "label": "autosomal dominant nonsyndromic deafness 70", "link_status": true, "children": [] }, { "id": "DOID:0110593", "label": "autosomal dominant nonsyndromic deafness 9", "link_status": true, "children": [] }, { "id": "DOID:0112159", "label": "autosomal dominant nonsyndromic deafness 78", "link_status": true, "children": [] }, { "id": "DOID:0112160", "label": "autosomal dominant nonsyndromic deafness 79", "link_status": true, "children": [] }, { "id": "DOID:0112165", "label": "autosomal dominant nonsyndromic deafness 74", "link_status": true, "children": [] }, { "id": "DOID:0112166", "label": "autosomal dominant nonsyndromic deafness 75", "link_status": true, "children": [] }, { "id": "DOID:0112167", "label": "autosomal dominant nonsyndromic deafness 76", "link_status": true, "children": [] }, { "id": "DOID:0112168", "label": "autosomal dominant nonsyndromic deafness 77", "link_status": true, "children": [] }, { "id": "DOID:0112373", "label": "autosomal dominant auditory neuropathy 3", "link_status": true, "children": [] } ] }, { "id": "DOID:0050565", "label": "autosomal recessive nonsyndromic deafness", "link_status": true, "children": [ { "id": "DOID:0061124", "label": "autosomal recessive nonsyndromic deafness 125", "link_status": true, "children": [] }, { "id": "DOID:0070669", "label": "autosomal recessive nonsyndromic deafness 122", "link_status": true, "children": [] }, { "id": "DOID:0070670", "label": "autosomal recessive nonsyndromic deafness 123", "link_status": true, "children": [] }, { "id": "DOID:0070671", "label": "autosomal recessive nonsyndromic deafness 117", "link_status": true, "children": [] }, { "id": "DOID:0070672", "label": "autosomal recessive nonsyndromic deafness 118", "link_status": true, "children": [] }, { "id": "DOID:0070673", "label": "autosomal recessive nonsyndromic deafness 119", "link_status": true, "children": [] }, { "id": "DOID:0070674", "label": "autosomal recessive nonsyndromic deafness 120", "link_status": true, "children": [] }, { "id": "DOID:0070675", "label": "autosomal recessive nonsyndromic deafness 121", "link_status": true, "children": [] }, { "id": "DOID:0070676", "label": "autosomal recessive nonsyndromic deafness 124", "link_status": true, "children": [] }, { "id": "DOID:0080261", "label": "autosomal recessive nonsyndromic deafness 106", "link_status": true, "children": [] }, { "id": "DOID:0080262", "label": "autosomal recessive nonsyndromic deafness 107", "link_status": true, "children": [] }, { "id": "DOID:0080263", "label": "autosomal recessive nonsyndromic deafness 108", "link_status": true, "children": [] }, { "id": "DOID:0110462", "label": "autosomal recessive nonsyndromic deafness 101", "link_status": true, "children": [] }, { "id": "DOID:0110463", "label": "autosomal recessive nonsyndromic deafness 102", "link_status": true, "children": [] }, { "id": "DOID:0110464", "label": "autosomal recessive nonsyndromic deafness 103", "link_status": true, "children": [] }, { "id": "DOID:0110465", "label": "autosomal recessive nonsyndromic deafness 104", "link_status": true, "children": [] }, { "id": "DOID:0110467", "label": "autosomal recessive nonsyndromic deafness 12", "link_status": true, "children": [] }, { "id": "DOID:0110470", "label": "autosomal recessive nonsyndromic deafness 15", "link_status": true, "children": [] }, { "id": "DOID:0110471", "label": "autosomal recessive nonsyndromic deafness 16", "link_status": true, "children": [] }, { "id": "DOID:0110473", "label": "autosomal recessive nonsyndromic deafness 18A", "link_status": true, "children": [] }, { "id": "DOID:0110474", "label": "autosomal recessive nonsyndromic deafness 18B", "link_status": true, "children": [] }, { "id": "DOID:0110475", "label": "autosomal recessive nonsyndromic deafness 1A", "link_status": true, "children": [] }, { "id": "DOID:0110476", "label": "autosomal recessive nonsyndromic deafness 1B", "link_status": true, "children": [] }, { "id": "DOID:0110477", "label": "autosomal recessive nonsyndromic deafness 2", "link_status": true, "children": [] }, { "id": "DOID:0110479", "label": "autosomal recessive nonsyndromic deafness 21", "link_status": true, "children": [] }, { "id": "DOID:0110480", "label": "autosomal recessive nonsyndromic deafness 22", "link_status": true, "children": [] }, { "id": "DOID:0110481", "label": "autosomal recessive nonsyndromic deafness 23", "link_status": true, "children": [] }, { "id": "DOID:0110482", "label": "autosomal recessive nonsyndromic deafness 24", "link_status": true, "children": [] }, { "id": "DOID:0110483", "label": "autosomal recessive nonsyndromic deafness 25", "link_status": true, "children": [] }, { "id": "DOID:0110484", "label": "autosomal recessive nonsyndromic deafness 26", "link_status": true, "children": [] }, { "id": "DOID:0110486", "label": "autosomal recessive nonsyndromic deafness 28", "link_status": true, "children": [] }, { "id": "DOID:0110487", "label": "autosomal recessive nonsyndromic deafness 29", "link_status": true, "children": [] }, { "id": "DOID:0110488", "label": "autosomal recessive nonsyndromic deafness 3", "link_status": true, "children": [] }, { "id": "DOID:0110489", "label": "autosomal recessive nonsyndromic deafness 30", "link_status": true, "children": [] }, { "id": "DOID:0110490", "label": "autosomal recessive nonsyndromic deafness 31", "link_status": true, "children": [] }, { "id": "DOID:0110491", "label": "autosomal recessive nonsyndromic deafness 32", "link_status": true, "children": [] }, { "id": "DOID:0110493", "label": "autosomal recessive nonsyndromic deafness 35", "link_status": true, "children": [] }, { "id": "DOID:0110494", "label": "autosomal recessive nonsyndromic deafness 36", "link_status": true, "children": [] }, { "id": "DOID:0110495", "label": "autosomal recessive nonsyndromic deafness 37", "link_status": true, "children": [] }, { "id": "DOID:0110497", "label": "autosomal recessive nonsyndromic deafness 39", "link_status": true, "children": [] }, { "id": "DOID:0110498", "label": "autosomal recessive nonsyndromic deafness 4", "link_status": true, "children": [] }, { "id": "DOID:0110500", "label": "autosomal recessive nonsyndromic deafness 42", "link_status": true, "children": [] }, { "id": "DOID:0110501", "label": "autosomal recessive nonsyndromic deafness 44", "link_status": true, "children": [] }, { "id": "DOID:0110505", "label": "autosomal recessive nonsyndromic deafness 48", "link_status": true, "children": [] }, { "id": "DOID:0110506", "label": "autosomal recessive nonsyndromic deafness 49", "link_status": true, "children": [] }, { "id": "DOID:0110509", "label": "autosomal recessive nonsyndromic deafness 53", "link_status": true, "children": [] }, { "id": "DOID:0110511", "label": "autosomal recessive nonsyndromic deafness 59", "link_status": true, "children": [] }, { "id": "DOID:0110512", "label": "autosomal recessive nonsyndromic deafness 6", "link_status": true, "children": [] }, { "id": "DOID:0110513", "label": "autosomal recessive nonsyndromic deafness 61", "link_status": true, "children": [] }, { "id": "DOID:0110515", "label": "autosomal recessive nonsyndromic deafness 63", "link_status": true, "children": [] }, { "id": "DOID:0110517", "label": "autosomal recessive nonsyndromic deafness 66", "link_status": true, "children": [] }, { "id": "DOID:0110518", "label": "autosomal recessive nonsyndromic deafness 67", "link_status": true, "children": [] }, { "id": "DOID:0110519", "label": "autosomal recessive nonsyndromic deafness 68", "link_status": true, "children": [] }, { "id": "DOID:0110520", "label": "autosomal recessive nonsyndromic deafness 7", "link_status": true, "children": [] }, { "id": "DOID:0110521", "label": "autosomal recessive nonsyndromic deafness 70", "link_status": true, "children": [] }, { "id": "DOID:0110523", "label": "autosomal recessive nonsyndromic deafness 74", "link_status": true, "children": [] }, { "id": "DOID:0110524", "label": "autosomal recessive nonsyndromic deafness 76", "link_status": true, "children": [] }, { "id": "DOID:0110525", "label": "autosomal recessive nonsyndromic deafness 77", "link_status": true, "children": [] }, { "id": "DOID:0110526", "label": "autosomal recessive nonsyndromic deafness 79", "link_status": true, "children": [] }, { "id": "DOID:0110527", "label": "autosomal recessive nonsyndromic deafness 8", "link_status": true, "children": [] }, { "id": "DOID:0110529", "label": "autosomal recessive nonsyndromic deafness 84A", "link_status": true, "children": [] }, { "id": "DOID:0110530", "label": "autosomal recessive nonsyndromic deafness 84B", "link_status": true, "children": [] }, { "id": "DOID:0110532", "label": "autosomal recessive nonsyndromic deafness 86", "link_status": true, "children": [] }, { "id": "DOID:0110533", "label": "autosomal recessive nonsyndromic deafness 88", "link_status": true, "children": [] }, { "id": "DOID:0110534", "label": "autosomal recessive nonsyndromic deafness 89", "link_status": true, "children": [] }, { "id": "DOID:0110535", "label": "autosomal recessive nonsyndromic deafness 9", "link_status": true, "children": [] }, { "id": "DOID:0110536", "label": "autosomal recessive nonsyndromic deafness 91", "link_status": true, "children": [] }, { "id": "DOID:0110537", "label": "autosomal recessive nonsyndromic deafness 93", "link_status": true, "children": [] }, { "id": "DOID:0110539", "label": "autosomal recessive nonsyndromic deafness 97", "link_status": true, "children": [] }, { "id": "DOID:0110540", "label": "autosomal recessive nonsyndromic deafness 98", "link_status": true, "children": [] }, { "id": "DOID:0111634", "label": "autosomal recessive nonsyndromic deafness 99", "link_status": true, "children": [] }, { "id": "DOID:0111635", "label": "autosomal recessive nonsyndromic deafness 57", "link_status": true, "children": [] }, { "id": "DOID:0111636", "label": "autosomal recessive nonsyndromic deafness 113", "link_status": true, "children": [] }, { "id": "DOID:0111637", "label": "autosomal recessive nonsyndromic deafness 112", "link_status": true, "children": [] }, { "id": "DOID:0111638", "label": "autosomal recessive nonsyndromic deafness 100", "link_status": true, "children": [] }, { "id": "DOID:0111639", "label": "autosomal recessive nonsyndromic deafness 109", "link_status": true, "children": [] }, { "id": "DOID:0111640", "label": "autosomal recessive nonsyndromic deafness 111", "link_status": true, "children": [] }, { "id": "DOID:0111641", "label": "autosomal recessive nonsyndromic deafness 94", "link_status": true, "children": [] }, { "id": "DOID:0111642", "label": "autosomal recessive nonsyndromic deafness 114", "link_status": true, "children": [] }, { "id": "DOID:0111643", "label": "autosomal recessive nonsyndromic deafness 115", "link_status": true, "children": [] }, { "id": "DOID:0111644", "label": "autosomal recessive nonsyndromic deafness 110", "link_status": true, "children": [] }, { "id": "DOID:0112162", "label": "autosomal recessive nonsyndromic deafness 116", "link_status": true, "children": [] } ] }, { "id": "DOID:0050566", "label": "X-linked nonsyndromic deafness", "link_status": true, "children": [ { "id": "DOID:0111735", "label": "X-linked deafness 4", "link_status": true, "children": [] }, { "id": "DOID:0111737", "label": "X-linked deafness 2", "link_status": true, "children": [] }, { "id": "DOID:0111738", "label": "X-linked deafness 7", "link_status": true, "children": [] }, { "id": "DOID:0111739", "label": "X-linked deafness 1", "link_status": true, "children": [] }, { "id": "DOID:0111740", "label": "X-linked deafness 6", "link_status": true, "children": [] } ] }, { "id": "DOID:0070310", "label": "drug-induced hearing loss", "link_status": false, "children": [ { "id": "DOID:0111734", "label": "aminoglycoside-induced deafness", "link_status": true, "children": [] } ] }, { "id": "DOID:0111757", "label": "Y-linked deafness", "link_status": false, "children": [ { "id": "DOID:0111758", "label": "Y-linked deafness 2", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:2889", "label": "retrocochlear disease", "link_status": false, "children": [ { "id": "DOID:12657", "label": "vestibulocochlear nerve disease", "link_status": false, "children": [ { "id": "DOID:0070735", "label": "auditory neuropathy and optic atrophy", "link_status": true, "children": [] }, { "id": "DOID:12683", "label": "vestibular neuronitis", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:2952", "label": "inner ear disease", "link_status": true, "children": [ { "id": "DOID:10003", "label": "sensorineural hearing loss", "link_status": true, "children": [ { "id": "DOID:0111751", "label": "mitochondrial nonsyndromic sensorineural deafness", "link_status": true, "children": [] } ] }, { "id": "DOID:12185", "label": "otosclerosis", "link_status": true, "children": [ { "id": "DOID:0060928", "label": "otosclerosis 11", "link_status": true, "children": [] } ] }, { "id": "DOID:3426", "label": "vestibular disease", "link_status": true, "children": [ { "id": "DOID:0050332", "label": "enlarged vestibular aqueduct", "link_status": true, "children": [] }, { "id": "DOID:9847", "label": "peripheral vertigo", "link_status": false, "children": [ { "id": "DOID:9848", "label": "endolymphatic hydrops", "link_status": false, "children": [ { "id": "DOID:9849", "label": "Meniere's disease", "link_status": true, "children": [] } ] } ] } ] }, { "id": "DOID:5463", "label": "cochlear disease", "link_status": true, "children": [] } ] }, { "id": "DOID:379", "label": "external ear disease", "link_status": false, "children": [ { "id": "DOID:9463", "label": "otitis externa", "link_status": true, "children": [] } ] }, { "id": "DOID:5100", "label": "middle ear disease", "link_status": false, "children": [ { "id": "DOID:0060322", "label": "mastoiditis", "link_status": true, "children": [] }, { "id": "DOID:10754", "label": "otitis media", "link_status": true, "children": [ { "id": "DOID:11506", "label": "suppurative otitis media", "link_status": true, "children": [] } ] }, { "id": "DOID:10964", "label": "cholesteatoma of middle ear", "link_status": true, "children": [] }, { "id": "DOID:5782", "label": "tympanic membrane disease", "link_status": false, "children": [ { "id": "DOID:1214", "label": "tympanosclerosis", "link_status": true, "children": [] } ] } ] } ] }, { "id": "DOID:5614", "label": "eye disease", "link_status": true, "children": [ { "id": "DOID:0050630", "label": "Aland Island eye disease", "link_status": true, "children": [] }, { "id": "DOID:0050633", "label": "ocular albinism 1", "link_status": true, "children": [ { "id": "DOID:0090100", "label": "ocular albinism with sensorineural deafness", "link_status": true, "children": [] } ] }, { "id": "DOID:0050637", "label": "Finnish type amyloidosis", "link_status": true, "children": [] }, { "id": "DOID:0060260", "label": "ptosis", "link_status": true, "children": [] }, { "id": "DOID:0060648", "label": "anterior segment dysgenesis", "link_status": true, "children": [ { "id": "DOID:0080606", "label": "anterior segment dysgenesis 1", "link_status": true, "children": [] }, { "id": "DOID:0080607", "label": "anterior segment dysgenesis 2", "link_status": true, "children": [] }, { "id": "DOID:0080608", "label": "anterior segment dysgenesis 3", "link_status": true, "children": [] }, { "id": "DOID:0080609", "label": "anterior segment dysgenesis 4", "link_status": true, "children": [] }, { "id": "DOID:0080610", "label": "anterior segment dysgenesis 5", "link_status": true, "children": [] }, { "id": "DOID:0080611", "label": "anterior segment dysgenesis 6", "link_status": true, "children": [] }, { "id": "DOID:0080612", "label": "anterior segment dysgenesis 7", "link_status": true, "children": [] }, { "id": "DOID:0080613", "label": "anterior segment dysgenesis 8", "link_status": true, "children": [] } ] }, { "id": "DOID:0060680", "label": "pigment dispersion syndrome", "link_status": true, "children": [] }, { "id": "DOID:0070344", "label": "ocular tuberculosis", "link_status": true, "children": [] }, { "id": "DOID:0070356", "label": "visual impairment and progressive phthisis bulbi", "link_status": true, "children": [] }, { "id": "DOID:0080849", "label": "ocular motor apraxia, Cogan type", "link_status": true, "children": [] }, { "id": "DOID:0111228", "label": "Sveinsson chorioretinal atrophy", "link_status": true, "children": [] }, { "id": "DOID:0111541", "label": "pigmented paravenous chorioretinal atrophy", "link_status": true, "children": [] }, { "id": "DOID:0111648", "label": "ectopia lentis with ectopia of pupil", "link_status": true, "children": [] }, { "id": "DOID:10124", "label": "corneal disease", "link_status": true, "children": [ { "id": "DOID:0002116", "label": "pterygium", "link_status": true, "children": [] }, { "id": "DOID:0060252", "label": "sclerocornea", "link_status": true, "children": [] }, { "id": "DOID:0060287", "label": "cornea plana", "link_status": true, "children": [] }, { "id": "DOID:0060305", "label": "megalocornea", "link_status": true, "children": [] }, { "id": "DOID:0060673", "label": "Peters anomaly", "link_status": true, "children": [] }, { "id": "DOID:0080729", "label": "brittle cornea syndrome 2", "link_status": true, "children": [] }, { "id": "DOID:0111548", "label": "ring dermoid of cornea", "link_status": true, "children": [] }, { "id": "DOID:10126", "label": "keratoconus", "link_status": true, "children": [] }, { "id": "DOID:11030", "label": "corneal edema", "link_status": true, "children": [] }, { "id": "DOID:1237", "label": "corneal degeneration", "link_status": false, "children": [ { "id": "DOID:11342", "label": "arcus senilis", "link_status": true, "children": [] } ] }, { "id": "DOID:14775", "label": "brittle cornea syndrome 1", "link_status": true, "children": [] }, { "id": "DOID:2566", "label": "corneal dystrophy", "link_status": true, "children": [ { "id": "DOID:0060440", "label": "epithelial and subepithelial dystrophy", "link_status": false, "children": [ { "id": "DOID:0060447", "label": "epithelial basement membrane dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0060449", "label": "gelatinous drop-like corneal dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0060450", "label": "Lisch epithelial corneal dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0060451", "label": "Meesmann corneal dystrophy", "link_status": true, "children": [ { "id": "DOID:0080670", "label": "Meesmann corneal dystrophy 1", "link_status": true, "children": [] }, { "id": "DOID:0080671", "label": "Meesmann corneal dystrophy 2", "link_status": true, "children": [] } ] }, { "id": "DOID:0070337", "label": "epithelial recurrent erosion dystrophy", "link_status": true, "children": [] } ] }, { "id": "DOID:0060441", "label": "epithelial-stromal TGFBI dystrophy", "link_status": false, "children": [ { "id": "DOID:0060453", "label": "Reis-Bucklers corneal dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0060455", "label": "Thiel-Behnke corneal dystrophy", "link_status": true, "children": [] }, { "id": "DOID:12318", "label": "granular corneal dystrophy", "link_status": false, "children": [ { "id": "DOID:0060444", "label": "granular corneal dystrophy 2", "link_status": true, "children": [] }, { "id": "DOID:0080530", "label": "granular corneal dystrophy 1", "link_status": true, "children": [] } ] }, { "id": "DOID:8943", "label": "lattice corneal dystrophy", "link_status": true, "children": [] } ] }, { "id": "DOID:0060442", "label": "stromal dystrophy", "link_status": false, "children": [ { "id": "DOID:0060445", "label": "congenital stromal corneal dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0060448", "label": "Fleck corneal dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0060456", "label": "Schnyder corneal dystrophy", "link_status": true, "children": [] }, { "id": "DOID:2565", "label": "macular corneal dystrophy", "link_status": true, "children": [] } ] }, { "id": "DOID:0060443", "label": "corneal endothelial dystrophy", "link_status": false, "children": [ { "id": "DOID:0060649", "label": "congenital hereditary endothelial dystrophy of cornea", "link_status": true, "children": [] }, { "id": "DOID:11555", "label": "Fuchs' endothelial dystrophy", "link_status": true, "children": [] } ] }, { "id": "DOID:0060457", "label": "posterior polymorphous corneal dystrophy", "link_status": true, "children": [ { "id": "DOID:0080669", "label": "posterior polymorphous corneal dystrophy 4", "link_status": true, "children": [] }, { "id": "DOID:0110855", "label": "posterior polymorphous corneal dystrophy 1", "link_status": true, "children": [] }, { "id": "DOID:0110856", "label": "posterior polymorphous corneal dystrophy 2", "link_status": true, "children": [] }, { "id": "DOID:0110857", "label": "posterior polymorphous corneal dystrophy 3", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:4677", "label": "keratitis", "link_status": true, "children": [ { "id": "DOID:0080158", "label": "herpes simplex virus keratitis", "link_status": true, "children": [] }, { "id": "DOID:0111383", "label": "autosomal dominant keratitis", "link_status": true, "children": [] }, { "id": "DOID:11382", "label": "corneal neovascularization", "link_status": true, "children": [] }, { "id": "DOID:8463", "label": "corneal ulcer", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:10376", "label": "amblyopia", "link_status": true, "children": [] }, { "id": "DOID:10629", "label": "microphthalmia", "link_status": true, "children": [ { "id": "DOID:0080634", "label": "nanophthalmos", "link_status": true, "children": [] }, { "id": "DOID:0080635", "label": "optic disc anomalies with retinal and/or macular dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0080636", "label": "syndromic microphthalmia", "link_status": true, "children": [ { "id": "DOID:0060842", "label": "syndromic microphthalmia 16", "link_status": true, "children": [] }, { "id": "DOID:0111799", "label": "syndromic microphthalmia 1", "link_status": true, "children": [] }, { "id": "DOID:0111800", "label": "syndromic microphthalmia 12", "link_status": true, "children": [] }, { "id": "DOID:0111801", "label": "syndromic microphthalmia 3", "link_status": true, "children": [] }, { "id": "DOID:0111802", "label": "syndromic microphthalmia 14", "link_status": true, "children": [] }, { "id": "DOID:0111804", "label": "syndromic microphthalmia 11", "link_status": true, "children": [] }, { "id": "DOID:0111805", "label": "syndromic microphthalmia 6", "link_status": true, "children": [] }, { "id": "DOID:0111806", "label": "syndromic microphthalmia 5", "link_status": true, "children": [] }, { "id": "DOID:0111807", "label": "syndromic microphthalmia 9", "link_status": true, "children": [] }, { "id": "DOID:0111809", "label": "syndromic microphthalmia 2", "link_status": true, "children": [] }, { "id": "DOID:0111811", "label": "syndromic microphthalmia 13", "link_status": true, "children": [] } ] }, { "id": "DOID:0080637", "label": "isolated microphthalmia", "link_status": false, "children": [ { "id": "DOID:0060835", "label": "isolated microphthalmia 6", "link_status": true, "children": [] }, { "id": "DOID:0060836", "label": "isolated microphthalmia 4", "link_status": true, "children": [] }, { "id": "DOID:0060837", "label": "isolated microphthalmia 5", "link_status": true, "children": [] }, { "id": "DOID:0060838", "label": "isolated microphthalmia 7", "link_status": true, "children": [] }, { "id": "DOID:0060839", "label": "isolated microphthalmia 2", "link_status": true, "children": [] }, { "id": "DOID:0060841", "label": "isolated microphthalmia 8", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:110", "label": "lens disease", "link_status": true, "children": [ { "id": "DOID:0111148", "label": "isolated ectopia lentis", "link_status": false, "children": [ { "id": "DOID:0111149", "label": "autosomal recessive isolated ectopia lentis 2", "link_status": true, "children": [] }, { "id": "DOID:0111150", "label": "autosomal dominant isolated ectopia lentis 1", "link_status": true, "children": [] } ] }, { "id": "DOID:11367", "label": "congenital aphakia", "link_status": true, "children": [] }, { "id": "DOID:83", "label": "cataract", "link_status": true, "children": [ { "id": "DOID:0070353", "label": "cataract 47", "link_status": true, "children": [] }, { "id": "DOID:0070354", "label": "cataract 48", "link_status": true, "children": [] }, { "id": "DOID:0110229", "label": "cataract 6 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110230", "label": "cataract 34 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110231", "label": "cataract 1 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110233", "label": "cataract 27", "link_status": true, "children": [] }, { "id": "DOID:0110234", "label": "cataract 4 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110235", "label": "cataract 2 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110236", "label": "cataract 39 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110237", "label": "cataract 42", "link_status": true, "children": [] }, { "id": "DOID:0110238", "label": "cataract 18", "link_status": true, "children": [] }, { "id": "DOID:0110239", "label": "cataract 12 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110240", "label": "cataract 20 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110241", "label": "cataract 41", "link_status": true, "children": [] }, { "id": "DOID:0110242", "label": "cataract 13 with adult i phenotype", "link_status": true, "children": [] }, { "id": "DOID:0110243", "label": "cataract 46 juvenile-onset", "link_status": true, "children": [] }, { "id": "DOID:0110245", "label": "cataract 38", "link_status": true, "children": [] }, { "id": "DOID:0110247", "label": "cataract 36", "link_status": true, "children": [] }, { "id": "DOID:0110248", "label": "cataract 30", "link_status": true, "children": [] }, { "id": "DOID:0110249", "label": "cataract 11 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110250", "label": "cataract 16 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110251", "label": "cataract 15 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110253", "label": "cataract 14 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110255", "label": "cataract 5 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110256", "label": "cataract 21 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110258", "label": "cataract 10 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110259", "label": "cataract 43", "link_status": true, "children": [] }, { "id": "DOID:0110260", "label": "cataract 7", "link_status": true, "children": [] }, { "id": "DOID:0110262", "label": "cataract 45", "link_status": true, "children": [] }, { "id": "DOID:0110263", "label": "cataract 19 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110264", "label": "cataract 33", "link_status": true, "children": [] }, { "id": "DOID:0110265", "label": "cataract 31 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110266", "label": "cataract 9 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110267", "label": "cataract 44", "link_status": true, "children": [] }, { "id": "DOID:0110268", "label": "cataract 22 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110269", "label": "cataract 3 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110270", "label": "cataract 17 multiple types", "link_status": true, "children": [] }, { "id": "DOID:0110271", "label": "cataract 23", "link_status": true, "children": [] }, { "id": "DOID:0110272", "label": "cataract 40", "link_status": true, "children": [] }, { "id": "DOID:13328", "label": "diabetic cataract", "link_status": true, "children": [] }, { "id": "DOID:9669", "label": "senile cataract", "link_status": true, "children": [ { "id": "DOID:13963", "label": "nuclear senile cataract", "link_status": true, "children": [] } ] } ] } ] }, { "id": "DOID:11265", "label": "trachoma", "link_status": true, "children": [] }, { "id": "DOID:11343", "label": "scleral disease", "link_status": true, "children": [ { "id": "DOID:13452", "label": "scleritis", "link_status": true, "children": [] } ] }, { "id": "DOID:12270", "label": "coloboma", "link_status": true, "children": [] }, { "id": "DOID:1242", "label": "globe disease", "link_status": false, "children": [ { "id": "DOID:4692", "label": "endophthalmitis", "link_status": true, "children": [] } ] }, { "id": "DOID:1279", "label": "ocular motility disease", "link_status": true, "children": [ { "id": "DOID:0080143", "label": "congenital fibrosis of the extraocular muscles", "link_status": true, "children": [ { "id": "DOID:0081015", "label": "congenital fibrosis of the extraocular muscles 1", "link_status": true, "children": [] }, { "id": "DOID:0081016", "label": "congenital fibrosis of the extraocular muscles 2", "link_status": true, "children": [] }, { "id": "DOID:0081017", "label": "congenital fibrosis of the extraocular muscles 3A", "link_status": true, "children": [] }, { "id": "DOID:0081020", "label": "congenital fibrosis of the extraocular muscles 5", "link_status": true, "children": [] } ] }, { "id": "DOID:539", "label": "ophthalmoplegia", "link_status": true, "children": [] }, { "id": "DOID:540", "label": "strabismus", "link_status": true, "children": [ { "id": "DOID:12557", "label": "Duane retraction syndrome", "link_status": true, "children": [ { "id": "DOID:0061028", "label": "Duane retraction syndrome 2", "link_status": true, "children": [] }, { "id": "DOID:0061029", "label": "Duane retraction syndrome 3", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:9650", "label": "pathologic nystagmus", "link_status": true, "children": [ { "id": "DOID:9649", "label": "congenital nystagmus", "link_status": true, "children": [ { "id": "DOID:0111790", "label": "congenital nystagmus 1", "link_status": true, "children": [] }, { "id": "DOID:0111795", "label": "congenital nystagmus 6", "link_status": true, "children": [] }, { "id": "DOID:0111797", "label": "autosomal recessive congenital nystagmus", "link_status": false, "children": [ { "id": "DOID:0061178", "label": "autosomal recessive congenital nystagmus 8", "link_status": true, "children": [] } ] } ] } ] } ] }, { "id": "DOID:1393", "label": "visual pathway disease", "link_status": false, "children": [ { "id": "DOID:11975", "label": "coloboma of optic nerve", "link_status": true, "children": [] }, { "id": "DOID:5678", "label": "nerve fibre bundle defect", "link_status": true, "children": [] } ] }, { "id": "DOID:1400", "label": "lacrimal apparatus disease", "link_status": false, "children": [ { "id": "DOID:10140", "label": "dry eye syndrome", "link_status": true, "children": [ { "id": "DOID:12895", "label": "keratoconjunctivitis sicca", "link_status": true, "children": [] } ] }, { "id": "DOID:13929", "label": "lacrimal duct obstruction", "link_status": true, "children": [] }, { "id": "DOID:6970", "label": "acute inflammation of lacrimal passage", "link_status": false, "children": [ { "id": "DOID:9938", "label": "dacryocystitis", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:1432", "label": "blindness", "link_status": true, "children": [ { "id": "DOID:13399", "label": "color blindness", "link_status": true, "children": [ { "id": "DOID:11661", "label": "blue color blindness", "link_status": true, "children": [] }, { "id": "DOID:13909", "label": "red-green color blindness", "link_status": true, "children": [] }, { "id": "DOID:13910", "label": "red color blindness", "link_status": true, "children": [] }, { "id": "DOID:13911", "label": "achromatopsia", "link_status": true, "children": [ { "id": "DOID:0050679", "label": "blue cone monochromacy", "link_status": true, "children": [] }, { "id": "DOID:0110007", "label": "achromatopsia 2", "link_status": true, "children": [] }, { "id": "DOID:0110008", "label": "achromatopsia 3", "link_status": true, "children": [] }, { "id": "DOID:0110009", "label": "achromatopsia 7", "link_status": true, "children": [] }, { "id": "DOID:0110010", "label": "achromatopsia 4", "link_status": true, "children": [] } ] } ] } ] }, { "id": "DOID:14323", "label": "Marfan syndrome", "link_status": true, "children": [] }, { "id": "DOID:14686", "label": "Axenfeld-Rieger syndrome", "link_status": true, "children": [ { "id": "DOID:0110120", "label": "Axenfeld-Rieger syndrome type 1", "link_status": true, "children": [] }, { "id": "DOID:0110122", "label": "Axenfeld-Rieger syndrome type 3", "link_status": true, "children": [] } ] }, { "id": "DOID:1686", "label": "glaucoma", "link_status": true, "children": [ { "id": "DOID:0050593", "label": "primary congenital glaucoma", "link_status": true, "children": [ { "id": "DOID:11212", "label": "hydrophthalmos", "link_status": true, "children": [ { "id": "DOID:11211", "label": "buphthalmos", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:1067", "label": "open-angle glaucoma", "link_status": true, "children": [ { "id": "DOID:1070", "label": "primary open angle glaucoma", "link_status": true, "children": [ { "id": "DOID:1068", "label": "juvenile glaucoma", "link_status": true, "children": [] } ] }, { "id": "DOID:13544", "label": "low tension glaucoma", "link_status": true, "children": [] } ] }, { "id": "DOID:12571", "label": "phacogenic glaucoma", "link_status": false, "children": [ { "id": "DOID:13641", "label": "exfoliation syndrome", "link_status": true, "children": [] } ] }, { "id": "DOID:13550", "label": "angle-closure glaucoma", "link_status": true, "children": [ { "id": "DOID:1405", "label": "primary angle-closure glaucoma", "link_status": true, "children": [] } ] }, { "id": "DOID:1687", "label": "neovascular glaucoma", "link_status": true, "children": [] } ] }, { "id": "DOID:2174", "label": "ocular cancer", "link_status": false, "children": [ { "id": "DOID:3479", "label": "uveal cancer", "link_status": false, "children": [ { "id": "DOID:6039", "label": "uveal melanoma", "link_status": true, "children": [] } ] }, { "id": "DOID:4645", "label": "retinal cancer", "link_status": false, "children": [ { "id": "DOID:771", "label": "retinal cell cancer", "link_status": false, "children": [ { "id": "DOID:768", "label": "retinoblastoma", "link_status": true, "children": [ { "id": "DOID:4648", "label": "familial retinoblastoma", "link_status": true, "children": [] } ] } ] } ] }, { "id": "DOID:5467", "label": "conjunctival cancer", "link_status": false, "children": [ { "id": "DOID:1748", "label": "conjunctival squamous cell carcinoma", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:3480", "label": "uveal disease", "link_status": false, "children": [ { "id": "DOID:0040088", "label": "autoimmune uveitis", "link_status": true, "children": [] }, { "id": "DOID:13141", "label": "uveitis", "link_status": true, "children": [ { "id": "DOID:12030", "label": "panuveitis", "link_status": true, "children": [ { "id": "DOID:12029", "label": "sympathetic ophthalmia", "link_status": true, "children": [] }, { "id": "DOID:12574", "label": "posterior uveitis", "link_status": true, "children": [ { "id": "DOID:0111079", "label": "birdshot chorioretinopathy", "link_status": true, "children": [] } ] }, { "id": "DOID:1407", "label": "anterior uveitis", "link_status": true, "children": [ { "id": "DOID:9383", "label": "iridocyclitis", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:12732", "label": "intermediate uveitis", "link_status": true, "children": [] } ] }, { "id": "DOID:1417", "label": "choroid disease", "link_status": true, "children": [ { "id": "DOID:1415", "label": "gyrate atrophy", "link_status": true, "children": [] }, { "id": "DOID:980", "label": "choroidal sclerosis", "link_status": true, "children": [ { "id": "DOID:9794", "label": "hereditary choroidal atrophy", "link_status": false, "children": [ { "id": "DOID:9822", "label": "partial central choroid dystrophy", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:9821", "label": "choroideremia", "link_status": true, "children": [] } ] }, { "id": "DOID:240", "label": "iris disease", "link_status": false, "children": [ { "id": "DOID:12271", "label": "aniridia", "link_status": true, "children": [ { "id": "DOID:0070532", "label": "aniridia 1", "link_status": true, "children": [] } ] }, { "id": "DOID:13641", "label": "exfoliation syndrome", "link_status": true, "children": [] } ] }, { "id": "DOID:3479", "label": "uveal cancer", "link_status": false, "children": [ { "id": "DOID:6039", "label": "uveal melanoma", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:4251", "label": "conjunctival disease", "link_status": true, "children": [ { "id": "DOID:4250", "label": "conjunctivochalasis", "link_status": true, "children": [] }, { "id": "DOID:5467", "label": "conjunctival cancer", "link_status": false, "children": [ { "id": "DOID:1748", "label": "conjunctival squamous cell carcinoma", "link_status": true, "children": [] } ] }, { "id": "DOID:6195", "label": "conjunctivitis", "link_status": true, "children": [ { "id": "DOID:2475", "label": "chronic conjunctivitis", "link_status": true, "children": [ { "id": "DOID:11204", "label": "allergic conjunctivitis", "link_status": true, "children": [] } ] } ] } ] }, { "id": "DOID:5679", "label": "retinal disease", "link_status": true, "children": [ { "id": "DOID:0050335", "label": "bradyopsia", "link_status": true, "children": [ { "id": "DOID:0070363", "label": "bradyopsia 1", "link_status": true, "children": [] }, { "id": "DOID:0070364", "label": "bradyopsia 2", "link_status": true, "children": [] } ] }, { "id": "DOID:0050795", "label": "cone dystrophy", "link_status": true, "children": [ { "id": "DOID:0081022", "label": "cone dystrophy with supernormal rod responses", "link_status": true, "children": [] }, { "id": "DOID:0081023", "label": "retinal cone dystrophy 4", "link_status": true, "children": [] }, { "id": "DOID:0081025", "label": "achromatopsia 6", "link_status": true, "children": [] } ] }, { "id": "DOID:0070530", "label": "foveal hypoplasia 1", "link_status": true, "children": [] }, { "id": "DOID:0070531", "label": "foveal hypoplasia 2", "link_status": true, "children": [] }, { "id": "DOID:0090059", "label": "enhanced S-cone syndrome", "link_status": true, "children": [ { "id": "DOID:0061231", "label": "enhanced S-cone syndrome 1", "link_status": true, "children": [] }, { "id": "DOID:0061232", "label": "enhanced S-cone syndrome 2", "link_status": true, "children": [] } ] }, { "id": "DOID:0111677", "label": "familial benign fleck retina", "link_status": true, "children": [] }, { "id": "DOID:11561", "label": "hypertensive retinopathy", "link_status": true, "children": [] }, { "id": "DOID:13025", "label": "retinopathy of prematurity", "link_status": true, "children": [] }, { "id": "DOID:14791", "label": "Leber congenital amaurosis", "link_status": true, "children": [ { "id": "DOID:0081169", "label": "Leber congenital amaurosis 19", "link_status": true, "children": [] }, { "id": "DOID:0110005", "label": "Leber congenital amaurosis 9", "link_status": true, "children": [] }, { "id": "DOID:0110016", "label": "Leber congenital amaurosis 2", "link_status": true, "children": [] }, { "id": "DOID:0110078", "label": "Leber congenital amaurosis 1", "link_status": true, "children": [] }, { "id": "DOID:0110079", "label": "Leber congenital amaurosis 8", "link_status": true, "children": [] }, { "id": "DOID:0110080", "label": "Leber congenital amaurosis 12", "link_status": true, "children": [] }, { "id": "DOID:0110118", "label": "Leber congenital amaurosis 16", "link_status": true, "children": [] }, { "id": "DOID:0110188", "label": "Leber congenital amaurosis 14", "link_status": true, "children": [] }, { "id": "DOID:0110189", "label": "Leber congenital amaurosis 15", "link_status": true, "children": [] }, { "id": "DOID:0110215", "label": "Leber congenital amaurosis 5", "link_status": true, "children": [] }, { "id": "DOID:0110216", "label": "Leber congenital amaurosis 11", "link_status": true, "children": [] }, { "id": "DOID:0110217", "label": "Leber congenital amaurosis 17", "link_status": true, "children": [] }, { "id": "DOID:0110291", "label": "Leber congenital amaurosis 10", "link_status": true, "children": [] }, { "id": "DOID:0110329", "label": "Leber congenital amaurosis 6", "link_status": true, "children": [] }, { "id": "DOID:0110330", "label": "Leber congenital amaurosis 13", "link_status": true, "children": [] }, { "id": "DOID:0110331", "label": "Leber congenital amaurosis 3", "link_status": true, "children": [] }, { "id": "DOID:0110332", "label": "Leber congenital amaurosis 4", "link_status": true, "children": [] }, { "id": "DOID:0110333", "label": "Leber congenital amaurosis 7", "link_status": true, "children": [] } ] }, { "id": "DOID:2462", "label": "retinal vascular disease", "link_status": false, "children": [ { "id": "DOID:0050535", "label": "exudative vitreoretinopathy", "link_status": true, "children": [ { "id": "DOID:0080264", "label": "exudative vitreoretinopathy 7", "link_status": true, "children": [] }, { "id": "DOID:0111408", "label": "exudative vitreoretinopathy 5", "link_status": true, "children": [] }, { "id": "DOID:0111410", "label": "exudative vitreoretinopathy 6", "link_status": true, "children": [] }, { "id": "DOID:0111411", "label": "exudative vitreoretinopathy 4", "link_status": true, "children": [] }, { "id": "DOID:0111412", "label": "exudative vitreoretinopathy 1", "link_status": true, "children": [] }, { "id": "DOID:0111413", "label": "X-linked exudative vitreoretinopathy 2", "link_status": true, "children": [] } ] }, { "id": "DOID:11563", "label": "retinal vasculitis", "link_status": true, "children": [] }, { "id": "DOID:12510", "label": "retinal ischemia", "link_status": true, "children": [] }, { "id": "DOID:7736", "label": "retinal telangiectasia", "link_status": true, "children": [] }, { "id": "DOID:8947", "label": "diabetic retinopathy", "link_status": true, "children": [ { "id": "DOID:13207", "label": "proliferative diabetic retinopathy", "link_status": true, "children": [] }, { "id": "DOID:13208", "label": "background diabetic retinopathy", "link_status": true, "children": [] }, { "id": "DOID:8946", "label": "severe nonproliferative diabetic retinopathy", "link_status": true, "children": [] }, { "id": "DOID:9191", "label": "diabetic macular edema", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:3612", "label": "retinitis", "link_status": true, "children": [ { "id": "DOID:0080160", "label": "Cytomegalovirus retinitis", "link_status": true, "children": [] }, { "id": "DOID:3611", "label": "acute retinal necrosis syndrome", "link_status": true, "children": [] } ] }, { "id": "DOID:4645", "label": "retinal cancer", "link_status": false, "children": [ { "id": "DOID:771", "label": "retinal cell cancer", "link_status": false, "children": [ { "id": "DOID:768", "label": "retinoblastoma", "link_status": true, "children": [ { "id": "DOID:4648", "label": "familial retinoblastoma", "link_status": true, "children": [] } ] } ] } ] }, { "id": "DOID:5327", "label": "retinal detachment", "link_status": true, "children": [] }, { "id": "DOID:5678", "label": "nerve fibre bundle defect", "link_status": true, "children": [] }, { "id": "DOID:6929", "label": "retinal edema", "link_status": false, "children": [ { "id": "DOID:4449", "label": "macular retinal edema", "link_status": true, "children": [] } ] }, { "id": "DOID:8466", "label": "retinal degeneration", "link_status": true, "children": [ { "id": "DOID:0050572", "label": "cone-rod dystrophy", "link_status": true, "children": [ { "id": "DOID:0080314", "label": "cone-rod dystrophy 14", "link_status": true, "children": [] }, { "id": "DOID:0081447", "label": "cone-rod dystrophy 21", "link_status": true, "children": [] }, { "id": "DOID:0081448", "label": "cone-rod dystrophy 22", "link_status": true, "children": [] }, { "id": "DOID:0081449", "label": "cone-rod dystrophy 24", "link_status": true, "children": [] }, { "id": "DOID:0111005", "label": "cone-rod dystrophy 2", "link_status": true, "children": [] }, { "id": "DOID:0111007", "label": "X-linked cone-rod dystrophy 3", "link_status": true, "children": [] }, { "id": "DOID:0111008", "label": "X-linked cone-rod dystrophy 1", "link_status": true, "children": [] }, { "id": "DOID:0111010", "label": "cone-rod dystrophy 5", "link_status": true, "children": [] }, { "id": "DOID:0111011", "label": "cone-rod dystrophy 6", "link_status": true, "children": [] }, { "id": "DOID:0111012", "label": "cone-rod dystrophy 7", "link_status": true, "children": [] }, { "id": "DOID:0111013", "label": "cone-rod dystrophy 3", "link_status": true, "children": [] }, { "id": "DOID:0111015", "label": "Newfoundland cone-rod dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0111016", "label": "cone-rod dystrophy 13", "link_status": true, "children": [] }, { "id": "DOID:0111017", "label": "cone-rod dystrophy 10", "link_status": true, "children": [] }, { "id": "DOID:0111018", "label": "cone-rod dystrophy 11", "link_status": true, "children": [] }, { "id": "DOID:0111019", "label": "cone-rod dystrophy 12", "link_status": true, "children": [] }, { "id": "DOID:0111020", "label": "cone-rod dystrophy 9", "link_status": true, "children": [] }, { "id": "DOID:0111021", "label": "cone-rod dystrophy 15", "link_status": true, "children": [] }, { "id": "DOID:0111022", "label": "cone-rod dystrophy 16", "link_status": true, "children": [] }, { "id": "DOID:0111024", "label": "cone-rod dystrophy 18", "link_status": true, "children": [] }, { "id": "DOID:0111025", "label": "cone-rod dystrophy 19", "link_status": true, "children": [] }, { "id": "DOID:0111026", "label": "cone-rod dystrophy 20", "link_status": true, "children": [] } ] }, { "id": "DOID:0050664", "label": "Bietti crystalline corneoretinal dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0060869", "label": "late-onset retinal degeneration", "link_status": true, "children": [] }, { "id": "DOID:10584", "label": "retinitis pigmentosa", "link_status": true, "children": [ { "id": "DOID:0061103", "label": "retinitis pigmentosa 76", "link_status": true, "children": [] }, { "id": "DOID:0061104", "label": "retinitis pigmentosa 96", "link_status": true, "children": [] }, { "id": "DOID:0061105", "label": "retinitis pigmentosa 93", "link_status": true, "children": [] }, { "id": "DOID:0061106", "label": "retinitis pigmentosa 91", "link_status": true, "children": [] }, { "id": "DOID:0061107", "label": "retinitis pigmentosa 92", "link_status": true, "children": [] }, { "id": "DOID:0061108", "label": "retinitis pigmentosa 79", "link_status": true, "children": [] }, { "id": "DOID:0061109", "label": "retinitis pigmentosa 98", "link_status": true, "children": [] }, { "id": "DOID:0061110", "label": "retinitis pigmentosa 97", "link_status": true, "children": [] }, { "id": "DOID:0061111", "label": "retinitis pigmentosa 80", "link_status": true, "children": [] }, { "id": "DOID:0061112", "label": "retinitis pigmentosa 95", "link_status": true, "children": [] }, { "id": "DOID:0061113", "label": "retinitis pigmentosa 78", "link_status": true, "children": [] }, { "id": "DOID:0061298", "label": "retinitis pigmentosa 100", "link_status": true, "children": [] }, { "id": "DOID:0080292", "label": "retinitis pigmentosa 81", "link_status": true, "children": [] }, { "id": "DOID:0080350", "label": "retinitis pigmentosa 77", "link_status": true, "children": [] }, { "id": "DOID:0110352", "label": "retinitis pigmentosa 59", "link_status": true, "children": [] }, { "id": "DOID:0110353", "label": "retinitis pigmentosa 20", "link_status": true, "children": [] }, { "id": "DOID:0110354", "label": "retinitis pigmentosa 19", "link_status": true, "children": [] }, { "id": "DOID:0110355", "label": "retinitis pigmentosa 32", "link_status": true, "children": [] }, { "id": "DOID:0110356", "label": "retinitis pigmentosa 18", "link_status": true, "children": [] }, { "id": "DOID:0110357", "label": "retinitis pigmentosa 35", "link_status": true, "children": [] }, { "id": "DOID:0110358", "label": "retinitis pigmentosa 12", "link_status": true, "children": [] }, { "id": "DOID:0110359", "label": "retinitis pigmentosa 67", "link_status": true, "children": [] }, { "id": "DOID:0110360", "label": "retinitis pigmentosa 39", "link_status": true, "children": [] }, { "id": "DOID:0110361", "label": "retinitis pigmentosa 75", "link_status": true, "children": [] }, { "id": "DOID:0110362", "label": "retinitis pigmentosa 58", "link_status": true, "children": [] }, { "id": "DOID:0110363", "label": "retinitis pigmentosa 71", "link_status": true, "children": [] }, { "id": "DOID:0110364", "label": "retinitis pigmentosa 54", "link_status": true, "children": [] }, { "id": "DOID:0110365", "label": "retinitis pigmentosa 28", "link_status": true, "children": [] }, { "id": "DOID:0110366", "label": "retinitis pigmentosa 33", "link_status": true, "children": [] }, { "id": "DOID:0110367", "label": "retinitis pigmentosa 38", "link_status": true, "children": [] }, { "id": "DOID:0110368", "label": "retinitis pigmentosa 26", "link_status": true, "children": [] }, { "id": "DOID:0110369", "label": "retinitis pigmentosa 47", "link_status": true, "children": [] }, { "id": "DOID:0110370", "label": "retinitis pigmentosa 55", "link_status": true, "children": [] }, { "id": "DOID:0110371", "label": "retinitis pigmentosa 56", "link_status": true, "children": [] }, { "id": "DOID:0110372", "label": "retinitis pigmentosa 4", "link_status": true, "children": [] }, { "id": "DOID:0110373", "label": "retinitis pigmentosa 61", "link_status": true, "children": [] }, { "id": "DOID:0110374", "label": "retinitis pigmentosa 68", "link_status": true, "children": [] }, { "id": "DOID:0110375", "label": "retinitis pigmentosa 40", "link_status": true, "children": [] }, { "id": "DOID:0110376", "label": "retinitis pigmentosa 41", "link_status": true, "children": [] }, { "id": "DOID:0110377", "label": "retinitis pigmentosa 49", "link_status": true, "children": [] }, { "id": "DOID:0110379", "label": "retinitis pigmentosa 43", "link_status": true, "children": [] }, { "id": "DOID:0110380", "label": "retinitis pigmentosa 62", "link_status": true, "children": [] }, { "id": "DOID:0110381", "label": "retinitis pigmentosa 14", "link_status": true, "children": [] }, { "id": "DOID:0110382", "label": "retinitis pigmentosa 48", "link_status": true, "children": [] }, { "id": "DOID:0110383", "label": "retinitis pigmentosa 7", "link_status": true, "children": [] }, { "id": "DOID:0110384", "label": "retinitis pigmentosa 25", "link_status": true, "children": [] }, { "id": "DOID:0110386", "label": "retinitis pigmentosa 42", "link_status": true, "children": [] }, { "id": "DOID:0110387", "label": "retinitis pigmentosa 9", "link_status": true, "children": [] }, { "id": "DOID:0110388", "label": "retinitis pigmentosa 10", "link_status": true, "children": [] }, { "id": "DOID:0110389", "label": "retinitis pigmentosa 73", "link_status": true, "children": [] }, { "id": "DOID:0110390", "label": "retinitis pigmentosa 1", "link_status": true, "children": [] }, { "id": "DOID:0110391", "label": "retinitis pigmentosa 31", "link_status": true, "children": [] }, { "id": "DOID:0110392", "label": "retinitis pigmentosa 70", "link_status": true, "children": [] }, { "id": "DOID:0110393", "label": "retinitis pigmentosa 66", "link_status": true, "children": [] }, { "id": "DOID:0110394", "label": "retinitis pigmentosa 44", "link_status": true, "children": [] }, { "id": "DOID:0110395", "label": "retinitis pigmentosa 72", "link_status": true, "children": [] }, { "id": "DOID:0110396", "label": "retinitis pigmentosa 50", "link_status": true, "children": [] }, { "id": "DOID:0110397", "label": "retinitis pigmentosa 27", "link_status": true, "children": [] }, { "id": "DOID:0110398", "label": "retinitis pigmentosa 51", "link_status": true, "children": [] }, { "id": "DOID:0110399", "label": "retinitis pigmentosa 37", "link_status": true, "children": [] }, { "id": "DOID:0110401", "label": "retinitis pigmentosa 74", "link_status": true, "children": [] }, { "id": "DOID:0110402", "label": "retinitis pigmentosa 45", "link_status": true, "children": [] }, { "id": "DOID:0110403", "label": "retinitis pigmentosa 13", "link_status": true, "children": [] }, { "id": "DOID:0110404", "label": "retinitis pigmentosa 17", "link_status": true, "children": [] }, { "id": "DOID:0110405", "label": "retinitis pigmentosa 36", "link_status": true, "children": [] }, { "id": "DOID:0110406", "label": "retinitis pigmentosa 30", "link_status": true, "children": [] }, { "id": "DOID:0110407", "label": "retinitis pigmentosa 57", "link_status": true, "children": [] }, { "id": "DOID:0110408", "label": "retinitis pigmentosa 11", "link_status": true, "children": [] }, { "id": "DOID:0110409", "label": "retinitis pigmentosa 46", "link_status": true, "children": [] }, { "id": "DOID:0110410", "label": "retinitis pigmentosa 69", "link_status": true, "children": [] }, { "id": "DOID:0110411", "label": "retinitis pigmentosa 60", "link_status": true, "children": [] }, { "id": "DOID:0110412", "label": "retinitis pigmentosa 23", "link_status": true, "children": [] }, { "id": "DOID:0110414", "label": "retinitis pigmentosa 3", "link_status": true, "children": [] }, { "id": "DOID:0110415", "label": "retinitis pigmentosa 2", "link_status": true, "children": [] }, { "id": "DOID:0110419", "label": "retinitis pigmentosa with or without situs inversus", "link_status": true, "children": [] }, { "id": "DOID:0112140", "label": "retinitis pigmentosa 83", "link_status": true, "children": [] }, { "id": "DOID:0112141", "label": "retinitis pigmentosa 84", "link_status": true, "children": [] }, { "id": "DOID:0112142", "label": "retinitis pigmentosa 85", "link_status": true, "children": [] }, { "id": "DOID:0112143", "label": "retinitis pigmentosa 86", "link_status": true, "children": [] }, { "id": "DOID:0112144", "label": "retinitis pigmentosa 87", "link_status": true, "children": [] }, { "id": "DOID:0112145", "label": "retinitis pigmentosa 88", "link_status": true, "children": [] }, { "id": "DOID:0112146", "label": "retinitis pigmentosa 89", "link_status": true, "children": [] }, { "id": "DOID:0112147", "label": "retinitis pigmentosa 90", "link_status": true, "children": [] } ] }, { "id": "DOID:4448", "label": "macular degeneration", "link_status": true, "children": [ { "id": "DOID:0050578", "label": "occult macular dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0050661", "label": "vitelliform macular dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0050662", "label": "bestrophinopathy", "link_status": true, "children": [] }, { "id": "DOID:0060863", "label": "patterned macular dystrophy", "link_status": true, "children": [ { "id": "DOID:0060864", "label": "patterned macular dystrophy 2", "link_status": true, "children": [] }, { "id": "DOID:0060865", "label": "patterned macular dystrophy 3", "link_status": true, "children": [] }, { "id": "DOID:0060866", "label": "patterned macular dystrophy 1", "link_status": true, "children": [] } ] }, { "id": "DOID:0070438", "label": "retinal macular dystrophy", "link_status": false, "children": [ { "id": "DOID:0070439", "label": "North Carolina macular dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0070441", "label": "retinal macular dystrophy 4", "link_status": true, "children": [] }, { "id": "DOID:0070517", "label": "retinal macular dystrophy 2", "link_status": true, "children": [] } ] }, { "id": "DOID:0112157", "label": "X-linked atrophic macular degeneration", "link_status": true, "children": [] }, { "id": "DOID:2007", "label": "degeneration of macula and posterior pole", "link_status": false, "children": [ { "id": "DOID:10871", "label": "age related macular degeneration", "link_status": true, "children": [ { "id": "DOID:0050817", "label": "Stargardt disease", "link_status": true, "children": [ { "id": "DOID:0061238", "label": "Stargardt disease 3", "link_status": true, "children": [] }, { "id": "DOID:0061239", "label": "Stargardt disease 4", "link_status": true, "children": [] }, { "id": "DOID:0061240", "label": "Stargardt disease 5", "link_status": true, "children": [] }, { "id": "DOID:0061241", "label": "Stargardt disease 1", "link_status": true, "children": [] } ] }, { "id": "DOID:0110014", "label": "age related macular degeneration 1", "link_status": true, "children": [] }, { "id": "DOID:0110015", "label": "age related macular degeneration 2", "link_status": true, "children": [] }, { "id": "DOID:0110017", "label": "age related macular degeneration 4", "link_status": true, "children": [] }, { "id": "DOID:0110018", "label": "age related macular degeneration 6", "link_status": true, "children": [] }, { "id": "DOID:0110019", "label": "age related macular degeneration 7", "link_status": true, "children": [] }, { "id": "DOID:0110020", "label": "age related macular degeneration 8", "link_status": true, "children": [] }, { "id": "DOID:0110021", "label": "age related macular degeneration 9", "link_status": true, "children": [] }, { "id": "DOID:0110023", "label": "age related macular degeneration 11", "link_status": true, "children": [] }, { "id": "DOID:0110024", "label": "age related macular degeneration 12", "link_status": true, "children": [] }, { "id": "DOID:0110025", "label": "age related macular degeneration 13", "link_status": true, "children": [] }, { "id": "DOID:0110026", "label": "age related macular degeneration 14", "link_status": true, "children": [] }, { "id": "DOID:0110027", "label": "age related macular degeneration 15", "link_status": true, "children": [] }, { "id": "DOID:0110028", "label": "age related macular degeneration 5", "link_status": true, "children": [] } ] }, { "id": "DOID:10873", "label": "Kuhnt-Junius degeneration", "link_status": true, "children": [] }, { "id": "DOID:2006", "label": "preretinal fibrosis", "link_status": true, "children": [] }, { "id": "DOID:2569", "label": "retinal drusen", "link_status": true, "children": [ { "id": "DOID:0060745", "label": "Doyne honeycomb retinal dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0060746", "label": "basal laminar drusen", "link_status": true, "children": [] } ] } ] } ] }, { "id": "DOID:8465", "label": "retinoschisis", "link_status": true, "children": [ { "id": "DOID:0060763", "label": "X-linked juvenile retinoschisis 1", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:8499", "label": "night blindness", "link_status": true, "children": [ { "id": "DOID:8498", "label": "hereditary night blindness", "link_status": true, "children": [ { "id": "DOID:0050534", "label": "congenital stationary night blindness", "link_status": true, "children": [ { "id": "DOID:0110712", "label": "Oguchi disease-1", "link_status": true, "children": [] }, { "id": "DOID:0110713", "label": "Oguchi disease-2", "link_status": true, "children": [] }, { "id": "DOID:0110714", "label": "congenital stationary night blindness 1G", "link_status": true, "children": [] }, { "id": "DOID:0110715", "label": "congenital stationary night blindness autosomal dominant 3", "link_status": true, "children": [] }, { "id": "DOID:0110862", "label": "congenital stationary night blindness autosomal dominant 1", "link_status": true, "children": [] }, { "id": "DOID:0110863", "label": "congenital stationary night blindness autosomal dominant 2", "link_status": true, "children": [] }, { "id": "DOID:0110864", "label": "congenital stationary night blindness 1F", "link_status": true, "children": [] }, { "id": "DOID:0110865", "label": "congenital stationary night blindness 1B", "link_status": true, "children": [] }, { "id": "DOID:0110866", "label": "congenital stationary night blindness 1H", "link_status": true, "children": [] }, { "id": "DOID:0110867", "label": "congenital stationary night blindness 1C", "link_status": true, "children": [] }, { "id": "DOID:0110868", "label": "congenital stationary night blindness 1D", "link_status": true, "children": [] }, { "id": "DOID:0110869", "label": "congenital stationary night blindness 1E", "link_status": true, "children": [] }, { "id": "DOID:0110870", "label": "congenital stationary night blindness 1A", "link_status": true, "children": [] }, { "id": "DOID:0110871", "label": "congenital stationary night blindness 2A", "link_status": true, "children": [] } ] } ] } ] }, { "id": "DOID:9719", "label": "neovascular inflammatory vitreoretinopathy", "link_status": true, "children": [] } ] }, { "id": "DOID:790", "label": "ocular hypotension", "link_status": true, "children": [] }, { "id": "DOID:8501", "label": "fundus dystrophy", "link_status": true, "children": [ { "id": "DOID:0050683", "label": "Bothnia retinal dystrophy", "link_status": true, "children": [] }, { "id": "DOID:11105", "label": "fundus albipunctatus", "link_status": true, "children": [] }, { "id": "DOID:8500", "label": "hereditary retinal dystrophy", "link_status": false, "children": [ { "id": "DOID:0090114", "label": "Sorsby's fundus dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0111569", "label": "autosomal dominant vitreoretinochoroidopathy", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:8886", "label": "chorioretinitis", "link_status": true, "children": [] }, { "id": "DOID:9282", "label": "ocular hypertension", "link_status": true, "children": [] }, { "id": "DOID:9368", "label": "keratoconjunctivitis", "link_status": true, "children": [] }, { "id": "DOID:9720", "label": "vitreous disease", "link_status": false, "children": [ { "id": "DOID:0060282", "label": "persistent hyperplastic primary vitreous", "link_status": true, "children": [] }, { "id": "DOID:9719", "label": "neovascular inflammatory vitreoretinopathy", "link_status": true, "children": [] } ] }, { "id": "DOID:9790", "label": "toxocariasis", "link_status": true, "children": [] }, { "id": "DOID:9799", "label": "eye degenerative disease", "link_status": false, "children": [ { "id": "DOID:0111570", "label": "snowflake vitreoretinal degeneration", "link_status": true, "children": [] }, { "id": "DOID:1237", "label": "corneal degeneration", "link_status": false, "children": [ { "id": "DOID:11342", "label": "arcus senilis", "link_status": true, "children": [] } ] }, { "id": "DOID:8466", "label": "retinal degeneration", "link_status": true, "children": [ { "id": "DOID:0050572", "label": "cone-rod dystrophy", "link_status": true, "children": [ { "id": "DOID:0080314", "label": "cone-rod dystrophy 14", "link_status": true, "children": [] }, { "id": "DOID:0081447", "label": "cone-rod dystrophy 21", "link_status": true, "children": [] }, { "id": "DOID:0081448", "label": "cone-rod dystrophy 22", "link_status": true, "children": [] }, { "id": "DOID:0081449", "label": "cone-rod dystrophy 24", "link_status": true, "children": [] }, { "id": "DOID:0111005", "label": "cone-rod dystrophy 2", "link_status": true, "children": [] }, { "id": "DOID:0111007", "label": "X-linked cone-rod dystrophy 3", "link_status": true, "children": [] }, { "id": "DOID:0111008", "label": "X-linked cone-rod dystrophy 1", "link_status": true, "children": [] }, { "id": "DOID:0111010", "label": "cone-rod dystrophy 5", "link_status": true, "children": [] }, { "id": "DOID:0111011", "label": "cone-rod dystrophy 6", "link_status": true, "children": [] }, { "id": "DOID:0111012", "label": "cone-rod dystrophy 7", "link_status": true, "children": [] }, { "id": "DOID:0111013", "label": "cone-rod dystrophy 3", "link_status": true, "children": [] }, { "id": "DOID:0111015", "label": "Newfoundland cone-rod dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0111016", "label": "cone-rod dystrophy 13", "link_status": true, "children": [] }, { "id": "DOID:0111017", "label": "cone-rod dystrophy 10", "link_status": true, "children": [] }, { "id": "DOID:0111018", "label": "cone-rod dystrophy 11", "link_status": true, "children": [] }, { "id": "DOID:0111019", "label": "cone-rod dystrophy 12", "link_status": true, "children": [] }, { "id": "DOID:0111020", "label": "cone-rod dystrophy 9", "link_status": true, "children": [] }, { "id": "DOID:0111021", "label": "cone-rod dystrophy 15", "link_status": true, "children": [] }, { "id": "DOID:0111022", "label": "cone-rod dystrophy 16", "link_status": true, "children": [] }, { "id": "DOID:0111024", "label": "cone-rod dystrophy 18", "link_status": true, "children": [] }, { "id": "DOID:0111025", "label": "cone-rod dystrophy 19", "link_status": true, "children": [] }, { "id": "DOID:0111026", "label": "cone-rod dystrophy 20", "link_status": true, "children": [] } ] }, { "id": "DOID:0050664", "label": "Bietti crystalline corneoretinal dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0060869", "label": "late-onset retinal degeneration", "link_status": true, "children": [] }, { "id": "DOID:10584", "label": "retinitis pigmentosa", "link_status": true, "children": [ { "id": "DOID:0061103", "label": "retinitis pigmentosa 76", "link_status": true, "children": [] }, { "id": "DOID:0061104", "label": "retinitis pigmentosa 96", "link_status": true, "children": [] }, { "id": "DOID:0061105", "label": "retinitis pigmentosa 93", "link_status": true, "children": [] }, { "id": "DOID:0061106", "label": "retinitis pigmentosa 91", "link_status": true, "children": [] }, { "id": "DOID:0061107", "label": "retinitis pigmentosa 92", "link_status": true, "children": [] }, { "id": "DOID:0061108", "label": "retinitis pigmentosa 79", "link_status": true, "children": [] }, { "id": "DOID:0061109", "label": "retinitis pigmentosa 98", "link_status": true, "children": [] }, { "id": "DOID:0061110", "label": "retinitis pigmentosa 97", "link_status": true, "children": [] }, { "id": "DOID:0061111", "label": "retinitis pigmentosa 80", "link_status": true, "children": [] }, { "id": "DOID:0061112", "label": "retinitis pigmentosa 95", "link_status": true, "children": [] }, { "id": "DOID:0061113", "label": "retinitis pigmentosa 78", "link_status": true, "children": [] }, { "id": "DOID:0061298", "label": "retinitis pigmentosa 100", "link_status": true, "children": [] }, { "id": "DOID:0080292", "label": "retinitis pigmentosa 81", "link_status": true, "children": [] }, { "id": "DOID:0080350", "label": "retinitis pigmentosa 77", "link_status": true, "children": [] }, { "id": "DOID:0110352", "label": "retinitis pigmentosa 59", "link_status": true, "children": [] }, { "id": "DOID:0110353", "label": "retinitis pigmentosa 20", "link_status": true, "children": [] }, { "id": "DOID:0110354", "label": "retinitis pigmentosa 19", "link_status": true, "children": [] }, { "id": "DOID:0110355", "label": "retinitis pigmentosa 32", "link_status": true, "children": [] }, { "id": "DOID:0110356", "label": "retinitis pigmentosa 18", "link_status": true, "children": [] }, { "id": "DOID:0110357", "label": "retinitis pigmentosa 35", "link_status": true, "children": [] }, { "id": "DOID:0110358", "label": "retinitis pigmentosa 12", "link_status": true, "children": [] }, { "id": "DOID:0110359", "label": "retinitis pigmentosa 67", "link_status": true, "children": [] }, { "id": "DOID:0110360", "label": "retinitis pigmentosa 39", "link_status": true, "children": [] }, { "id": "DOID:0110361", "label": "retinitis pigmentosa 75", "link_status": true, "children": [] }, { "id": "DOID:0110362", "label": "retinitis pigmentosa 58", "link_status": true, "children": [] }, { "id": "DOID:0110363", "label": "retinitis pigmentosa 71", "link_status": true, "children": [] }, { "id": "DOID:0110364", "label": "retinitis pigmentosa 54", "link_status": true, "children": [] }, { "id": "DOID:0110365", "label": "retinitis pigmentosa 28", "link_status": true, "children": [] }, { "id": "DOID:0110366", "label": "retinitis pigmentosa 33", "link_status": true, "children": [] }, { "id": "DOID:0110367", "label": "retinitis pigmentosa 38", "link_status": true, "children": [] }, { "id": "DOID:0110368", "label": "retinitis pigmentosa 26", "link_status": true, "children": [] }, { "id": "DOID:0110369", "label": "retinitis pigmentosa 47", "link_status": true, "children": [] }, { "id": "DOID:0110370", "label": "retinitis pigmentosa 55", "link_status": true, "children": [] }, { "id": "DOID:0110371", "label": "retinitis pigmentosa 56", "link_status": true, "children": [] }, { "id": "DOID:0110372", "label": "retinitis pigmentosa 4", "link_status": true, "children": [] }, { "id": "DOID:0110373", "label": "retinitis pigmentosa 61", "link_status": true, "children": [] }, { "id": "DOID:0110374", "label": "retinitis pigmentosa 68", "link_status": true, "children": [] }, { "id": "DOID:0110375", "label": "retinitis pigmentosa 40", "link_status": true, "children": [] }, { "id": "DOID:0110376", "label": "retinitis pigmentosa 41", "link_status": true, "children": [] }, { "id": "DOID:0110377", "label": "retinitis pigmentosa 49", "link_status": true, "children": [] }, { "id": "DOID:0110379", "label": "retinitis pigmentosa 43", "link_status": true, "children": [] }, { "id": "DOID:0110380", "label": "retinitis pigmentosa 62", "link_status": true, "children": [] }, { "id": "DOID:0110381", "label": "retinitis pigmentosa 14", "link_status": true, "children": [] }, { "id": "DOID:0110382", "label": "retinitis pigmentosa 48", "link_status": true, "children": [] }, { "id": "DOID:0110383", "label": "retinitis pigmentosa 7", "link_status": true, "children": [] }, { "id": "DOID:0110384", "label": "retinitis pigmentosa 25", "link_status": true, "children": [] }, { "id": "DOID:0110386", "label": "retinitis pigmentosa 42", "link_status": true, "children": [] }, { "id": "DOID:0110387", "label": "retinitis pigmentosa 9", "link_status": true, "children": [] }, { "id": "DOID:0110388", "label": "retinitis pigmentosa 10", "link_status": true, "children": [] }, { "id": "DOID:0110389", "label": "retinitis pigmentosa 73", "link_status": true, "children": [] }, { "id": "DOID:0110390", "label": "retinitis pigmentosa 1", "link_status": true, "children": [] }, { "id": "DOID:0110391", "label": "retinitis pigmentosa 31", "link_status": true, "children": [] }, { "id": "DOID:0110392", "label": "retinitis pigmentosa 70", "link_status": true, "children": [] }, { "id": "DOID:0110393", "label": "retinitis pigmentosa 66", "link_status": true, "children": [] }, { "id": "DOID:0110394", "label": "retinitis pigmentosa 44", "link_status": true, "children": [] }, { "id": "DOID:0110395", "label": "retinitis pigmentosa 72", "link_status": true, "children": [] }, { "id": "DOID:0110396", "label": "retinitis pigmentosa 50", "link_status": true, "children": [] }, { "id": "DOID:0110397", "label": "retinitis pigmentosa 27", "link_status": true, "children": [] }, { "id": "DOID:0110398", "label": "retinitis pigmentosa 51", "link_status": true, "children": [] }, { "id": "DOID:0110399", "label": "retinitis pigmentosa 37", "link_status": true, "children": [] }, { "id": "DOID:0110401", "label": "retinitis pigmentosa 74", "link_status": true, "children": [] }, { "id": "DOID:0110402", "label": "retinitis pigmentosa 45", "link_status": true, "children": [] }, { "id": "DOID:0110403", "label": "retinitis pigmentosa 13", "link_status": true, "children": [] }, { "id": "DOID:0110404", "label": "retinitis pigmentosa 17", "link_status": true, "children": [] }, { "id": "DOID:0110405", "label": "retinitis pigmentosa 36", "link_status": true, "children": [] }, { "id": "DOID:0110406", "label": "retinitis pigmentosa 30", "link_status": true, "children": [] }, { "id": "DOID:0110407", "label": "retinitis pigmentosa 57", "link_status": true, "children": [] }, { "id": "DOID:0110408", "label": "retinitis pigmentosa 11", "link_status": true, "children": [] }, { "id": "DOID:0110409", "label": "retinitis pigmentosa 46", "link_status": true, "children": [] }, { "id": "DOID:0110410", "label": "retinitis pigmentosa 69", "link_status": true, "children": [] }, { "id": "DOID:0110411", "label": "retinitis pigmentosa 60", "link_status": true, "children": [] }, { "id": "DOID:0110412", "label": "retinitis pigmentosa 23", "link_status": true, "children": [] }, { "id": "DOID:0110414", "label": "retinitis pigmentosa 3", "link_status": true, "children": [] }, { "id": "DOID:0110415", "label": "retinitis pigmentosa 2", "link_status": true, "children": [] }, { "id": "DOID:0110419", "label": "retinitis pigmentosa with or without situs inversus", "link_status": true, "children": [] }, { "id": "DOID:0112140", "label": "retinitis pigmentosa 83", "link_status": true, "children": [] }, { "id": "DOID:0112141", "label": "retinitis pigmentosa 84", "link_status": true, "children": [] }, { "id": "DOID:0112142", "label": "retinitis pigmentosa 85", "link_status": true, "children": [] }, { "id": "DOID:0112143", "label": "retinitis pigmentosa 86", "link_status": true, "children": [] }, { "id": "DOID:0112144", "label": "retinitis pigmentosa 87", "link_status": true, "children": [] }, { "id": "DOID:0112145", "label": "retinitis pigmentosa 88", "link_status": true, "children": [] }, { "id": "DOID:0112146", "label": "retinitis pigmentosa 89", "link_status": true, "children": [] }, { "id": "DOID:0112147", "label": "retinitis pigmentosa 90", "link_status": true, "children": [] } ] }, { "id": "DOID:4448", "label": "macular degeneration", "link_status": true, "children": [ { "id": "DOID:0050578", "label": "occult macular dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0050661", "label": "vitelliform macular dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0050662", "label": "bestrophinopathy", "link_status": true, "children": [] }, { "id": "DOID:0060863", "label": "patterned macular dystrophy", "link_status": true, "children": [ { "id": "DOID:0060864", "label": "patterned macular dystrophy 2", "link_status": true, "children": [] }, { "id": "DOID:0060865", "label": "patterned macular dystrophy 3", "link_status": true, "children": [] }, { "id": "DOID:0060866", "label": "patterned macular dystrophy 1", "link_status": true, "children": [] } ] }, { "id": "DOID:0070438", "label": "retinal macular dystrophy", "link_status": false, "children": [ { "id": "DOID:0070439", "label": "North Carolina macular dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0070441", "label": "retinal macular dystrophy 4", "link_status": true, "children": [] }, { "id": "DOID:0070517", "label": "retinal macular dystrophy 2", "link_status": true, "children": [] } ] }, { "id": "DOID:0112157", "label": "X-linked atrophic macular degeneration", "link_status": true, "children": [] }, { "id": "DOID:2007", "label": "degeneration of macula and posterior pole", "link_status": false, "children": [ { "id": "DOID:10871", "label": "age related macular degeneration", "link_status": true, "children": [ { "id": "DOID:0050817", "label": "Stargardt disease", "link_status": true, "children": [ { "id": "DOID:0061238", "label": "Stargardt disease 3", "link_status": true, "children": [] }, { "id": "DOID:0061239", "label": "Stargardt disease 4", "link_status": true, "children": [] }, { "id": "DOID:0061240", "label": "Stargardt disease 5", "link_status": true, "children": [] }, { "id": "DOID:0061241", "label": "Stargardt disease 1", "link_status": true, "children": [] } ] }, { "id": "DOID:0110014", "label": "age related macular degeneration 1", "link_status": true, "children": [] }, { "id": "DOID:0110015", "label": "age related macular degeneration 2", "link_status": true, "children": [] }, { "id": "DOID:0110017", "label": "age related macular degeneration 4", "link_status": true, "children": [] }, { "id": "DOID:0110018", "label": "age related macular degeneration 6", "link_status": true, "children": [] }, { "id": "DOID:0110019", "label": "age related macular degeneration 7", "link_status": true, "children": [] }, { "id": "DOID:0110020", "label": "age related macular degeneration 8", "link_status": true, "children": [] }, { "id": "DOID:0110021", "label": "age related macular degeneration 9", "link_status": true, "children": [] }, { "id": "DOID:0110023", "label": "age related macular degeneration 11", "link_status": true, "children": [] }, { "id": "DOID:0110024", "label": "age related macular degeneration 12", "link_status": true, "children": [] }, { "id": "DOID:0110025", "label": "age related macular degeneration 13", "link_status": true, "children": [] }, { "id": "DOID:0110026", "label": "age related macular degeneration 14", "link_status": true, "children": [] }, { "id": "DOID:0110027", "label": "age related macular degeneration 15", "link_status": true, "children": [] }, { "id": "DOID:0110028", "label": "age related macular degeneration 5", "link_status": true, "children": [] } ] }, { "id": "DOID:10873", "label": "Kuhnt-Junius degeneration", "link_status": true, "children": [] }, { "id": "DOID:2006", "label": "preretinal fibrosis", "link_status": true, "children": [] }, { "id": "DOID:2569", "label": "retinal drusen", "link_status": true, "children": [ { "id": "DOID:0060745", "label": "Doyne honeycomb retinal dystrophy", "link_status": true, "children": [] }, { "id": "DOID:0060746", "label": "basal laminar drusen", "link_status": true, "children": [] } ] } ] } ] }, { "id": "DOID:8465", "label": "retinoschisis", "link_status": true, "children": [ { "id": "DOID:0060763", "label": "X-linked juvenile retinoschisis 1", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:980", "label": "choroidal sclerosis", "link_status": true, "children": [ { "id": "DOID:9794", "label": "hereditary choroidal atrophy", "link_status": false, "children": [ { "id": "DOID:9822", "label": "partial central choroid dystrophy", "link_status": true, "children": [] } ] } ] } ] }, { "id": "DOID:9835", "label": "refractive error", "link_status": true, "children": [ { "id": "DOID:11830", "label": "myopia", "link_status": true, "children": [ { "id": "DOID:11829", "label": "degenerative myopia", "link_status": true, "children": [] } ] }, { "id": "DOID:9834", "label": "hyperopia", "link_status": true, "children": [ { "id": "DOID:540", "label": "strabismus", "link_status": true, "children": [ { "id": "DOID:12557", "label": "Duane retraction syndrome", "link_status": true, "children": [ { "id": "DOID:0061028", "label": "Duane retraction syndrome 2", "link_status": true, "children": [] }, { "id": "DOID:0061029", "label": "Duane retraction syndrome 3", "link_status": true, "children": [] } ] } ] } ] } ] } ] } ], "id_list": [ "DOID:0061113", "DOID:0111641", "DOID:0110591", "DOID:11661", "DOID:14775", "DOID:0110541", "DOID:0110251", "DOID:0110865", "DOID:790", "DOID:0111018", "DOID:0110712", "DOID:0110269", "DOID:0110555", "DOID:0110262", "DOID:0110270", "DOID:0111408", "DOID:0112160", "DOID:11975", "DOID:0060680", "DOID:0110365", "DOID:0110494", "DOID:0110398", "DOID:14791", "DOID:0060282", "DOID:0110509", "DOID:980", "DOID:0070604", "DOID:8501", "DOID:5782", "DOID:0050662", "DOID:0060838", "DOID:0111079", "DOID:13641", "DOID:1687", "DOID:0060865", "DOID:5614", "DOID:0110506", "DOID:3612", "DOID:12510", "DOID:0111737", "DOID:0110592", "DOID:0110260", "DOID:0070438", "DOID:8465", "DOID:0110546", "DOID:13025", "DOID:0110513", "DOID:0110548", "DOID:0080610", "DOID:0110368", "DOID:0070674", "DOID:0110569", "DOID:0110389", "DOID:0060252", "DOID:0060835", "DOID:1415", "DOID:0110489", "DOID:0110498", "DOID:0110482", "DOID:8946", "DOID:0110410", "DOID:8466", "DOID:0061103", "DOID:0110377", "DOID:9720", "DOID:0111644", "DOID:771", "DOID:0112168", "DOID:0111383", "DOID:0110394", "DOID:0110464", "DOID:0111012", "DOID:0110584", "DOID:5100", "DOID:0110333", "DOID:9669", "DOID:0070606", "DOID:5678", "DOID:10584", "DOID:0112157", "DOID:0070531", "DOID:0111541", "DOID:0110080", "DOID:0111790", "DOID:0070612", "DOID:0110530", "DOID:0110511", "DOID:0110230", "DOID:6970", "DOID:0111639", "DOID:0110018", "DOID:8498", "DOID:2889", "DOID:0050565", "DOID:13328", "DOID:0110491", "DOID:0112143", "DOID:0110330", "DOID:0110229", "DOID:12732", "DOID:1070", "DOID:0110118", "DOID:0061105", "DOID:0070608", "DOID:0070675", "DOID:0110525", "DOID:3480", "DOID:0060869", "DOID:0080270", "DOID:0110007", "DOID:0070607", "DOID:0081020", "DOID:9794", "DOID:5463", "DOID:0110567", "DOID:0110523", "DOID:0080143", "DOID:0081017", "DOID:1279", "DOID:8886", "DOID:0110237", "DOID:0110535", "DOID:0112141", "DOID:0061106", "DOID:0110713", "DOID:1242", "DOID:0060842", "DOID:0060447", "DOID:0111636", "DOID:0080530", "DOID:0112165", "DOID:0070530", "DOID:9938", "DOID:540", "DOID:0110501", "DOID:0080612", "DOID:0061239", "DOID:0060746", "DOID:4448", "DOID:0110242", "DOID:0061178", "DOID:13207", "DOID:0110005", "DOID:0111806", "DOID:0060443", "DOID:0110268", "DOID:0110383", "DOID:0070669", "DOID:0070517", "DOID:0110519", "DOID:0080611", "DOID:0110376", "DOID:0060449", "DOID:0110364", "DOID:0110369", "DOID:14323", "DOID:0110868", "DOID:9790", "DOID:0110552", "DOID:0110397", "DOID:0090100", "DOID:9822", "DOID:0061028", "DOID:11105", "DOID:0110014", "DOID:12571", "DOID:0090114", "DOID:0050563", "DOID:0110537", "DOID:10126", "DOID:0111148", "DOID:0111807", "DOID:0110078", "DOID:0061110", "DOID:2174", "DOID:0110856", "DOID:0111809", "DOID:12657", "DOID:0110189", "DOID:0110590", "DOID:0111150", "DOID:0110512", "DOID:10003", "DOID:0110593", "DOID:0110403", "DOID:0110869", "DOID:0080671", "DOID:0111411", "DOID:0110500", "DOID:0110215", "DOID:0111025", "DOID:0110249", "DOID:0080314", "DOID:0110256", "DOID:0110401", "DOID:0110497", "DOID:0110253", "DOID:0061240", "DOID:0110557", "DOID:0050664", "DOID:0110366", "DOID:0110867", "DOID:0110565", "DOID:0110291", "DOID:0050817", "DOID:0110379", "DOID:0111011", "DOID:0110866", "DOID:1214", "DOID:2566", "DOID:2475", "DOID:1417", "DOID:0110267", "DOID:0050630", "DOID:0111024", "DOID:0110479", "DOID:0110357", "DOID:0061231", "DOID:0111008", "DOID:0110015", "DOID:0080849", "DOID:0110248", "DOID:0111758", "DOID:0110476", "DOID:1407", "DOID:0080292", "DOID:12271", "DOID:0112159", "DOID:13911", "DOID:9191", "DOID:8463", "DOID:0110558", "DOID:0111634", "DOID:0080262", "DOID:12185", "DOID:0110354", "DOID:1067", "DOID:0060839", "DOID:10140", "DOID:0111797", "DOID:0060305", "DOID:0111020", "DOID:0110544", "DOID:0110352", "DOID:10964", "DOID:0112166", "DOID:0110329", "DOID:0110532", "DOID:0061111", "DOID:0110375", "DOID:0110406", "DOID:0110515", "DOID:0110483", "DOID:11204", "DOID:0110550", "DOID:0110272", "DOID:0080158", "DOID:0110250", "DOID:0110021", "DOID:0061108", "DOID:5327", "DOID:0110486", "DOID:0110715", "DOID:0080636", "DOID:2007", "DOID:5679", "DOID:0110465", "DOID:0050661", "DOID:0112373", "DOID:11829", "DOID:0060448", "DOID:0070601", "DOID:2565", "DOID:9649", "DOID:13909", "DOID:12318", "DOID:0050572", "DOID:13963", "DOID:0110019", "DOID:379", "DOID:0060648", "DOID:9835", "DOID:8943", "DOID:0112144", "DOID:0060928", "DOID:0111569", "DOID:0110493", "DOID:0080269", "DOID:11211", "DOID:0110462", "DOID:11561", "DOID:9799", "DOID:0081169", "DOID:0111802", "DOID:3479", "DOID:0110487", "DOID:11030", "DOID:0110553", "DOID:0110566", "DOID:0110356", "DOID:0111021", "DOID:3426", "DOID:0070611", "DOID:0110871", "DOID:0111804", "DOID:0070364", "DOID:0110023", "DOID:0080607", "DOID:0110524", "DOID:0110474", "DOID:0070310", "DOID:0110484", "DOID:0060260", "DOID:0110217", "DOID:10754", "DOID:0110396", "DOID:0060673", "DOID:13929", "DOID:0060030", "DOID:0110534", "DOID:0050564", "DOID:0110236", "DOID:0081022", "DOID:0110247", "DOID:0111228", "DOID:0110589", "DOID:0110009", "DOID:0110414", "DOID:11342", "DOID:0050534", "DOID:0110540", "DOID:0050566", "DOID:9848", "DOID:0110122", "DOID:0110188", "DOID:0110363", "DOID:0060444", "DOID:0110588", "DOID:10124", "DOID:0111412", "DOID:0081120", "DOID:1686", "DOID:0060440", "DOID:0110402", "DOID:0110481", "DOID:0110332", "DOID:0111800", "DOID:0080637", "DOID:0110470", "DOID:0111149", "DOID:0110586", "DOID:0050679", "DOID:0110362", "DOID:0050633", "DOID:0040088", "DOID:6039", "DOID:0070672", "DOID:0050578", "DOID:0110370", "DOID:0110407", "DOID:0110556", "DOID:1393", "DOID:0111735", "DOID:0110533", "DOID:8947", "DOID:0110393", "DOID:0110419", "DOID:0110235", "DOID:0081016", "DOID:0112240", "DOID:0112147", "DOID:0111638", "DOID:0110395", "DOID:0070735", "DOID:11830", "DOID:12557", "DOID:1405", "DOID:9821", "DOID:0110467", "DOID:9368", "DOID:11382", "DOID:0081025", "DOID:0060863", "DOID:9834", "DOID:0110231", "DOID:0111801", "DOID:0111007", "DOID:0110415", "DOID:0110477", "DOID:539", "DOID:0081449", "DOID:0070353", "DOID:1237", "DOID:0070603", "DOID:0060322", "DOID:0110412", "DOID:9650", "DOID:0110361", "DOID:0080670", "DOID:0110374", "DOID:0060745", "DOID:8499", "DOID:0110390", "DOID:0110475", "DOID:0110527", "DOID:0110857", "DOID:0110539", "DOID:0111640", "DOID:0110263", "DOID:0111022", "DOID:0070439", "DOID:0060455", "DOID:0112146", "DOID:0110016", "DOID:0110488", "DOID:0050637", "DOID:10629", "DOID:1400", "DOID:0111005", "DOID:0070673", "DOID:0110353", "DOID:0061238", "DOID:0111757", "DOID:0111811", "DOID:10873", "DOID:12574", "DOID:0111410", "DOID:0080261", "DOID:9383", "DOID:0110391", "DOID:0081015", "DOID:3611", "DOID:5467", "DOID:0110216", "DOID:0060441", "DOID:0111734", "DOID:0070337", "DOID:4677", "DOID:9847", "DOID:0110258", "DOID:11343", "DOID:0112145", "DOID:0110714", "DOID:0110505", "DOID:2569", "DOID:0070676", "DOID:0111795", "DOID:13141", "DOID:0060866", "DOID:0080635", "DOID:4648", "DOID:0110255", "DOID:0070670", "DOID:110", "DOID:0111805", "DOID:0060837", "DOID:0080268", "DOID:13544", "DOID:0110359", "DOID:0110382", "DOID:2742", "DOID:0110545", "DOID:0110526", "DOID:0110559", "DOID:0110358", "DOID:0110404", "DOID:0080729", "DOID:0110520", "DOID:11555", "DOID:0050795", "DOID:11212", "DOID:0110542", "DOID:0070356", "DOID:0111677", "DOID:0111015", "DOID:0112142", "DOID:0090059", "DOID:0070605", "DOID:0111799", "DOID:0110862", "DOID:0050535", "DOID:12683", "DOID:0110388", "DOID:0070610", "DOID:0110027", "DOID:0110563", "DOID:11506", "DOID:2462", "DOID:0061112", "DOID:0110381", "DOID:0050683", "DOID:0060445", "DOID:11563", "DOID:0060841", "DOID:0110518", "DOID:0070354", "DOID:0110026", "DOID:0110020", "DOID:0061109", "DOID:0110259", "DOID:83", "DOID:0110536", "DOID:0081023", "DOID:0081447", "DOID:12030", "DOID:0110264", "DOID:0111740", "DOID:0080350", "DOID:0110028", "DOID:0110490", "DOID:0112167", "DOID:0110360", "DOID:12270", "DOID:0110017", "DOID:9849", "DOID:0050332", "DOID:0002116", "DOID:0111017", "DOID:9719", "DOID:0110024", "DOID:0110355", "DOID:0110399", "DOID:0080608", "DOID:0111642", "DOID:0061241", "DOID:12895", "DOID:0110243", "DOID:13399", "DOID:0060453", "DOID:0080606", "DOID:0110240", "DOID:0070602", "DOID:0110564", "DOID:0110495", "DOID:0111637", "DOID:0111739", "DOID:0111548", "DOID:0110266", "DOID:8500", "DOID:0110367", "DOID:0110585", "DOID:9463", "DOID:0070532", "DOID:240", "DOID:2006", "DOID:0070671", "DOID:0060287", "DOID:0080264", "DOID:0110870", "DOID:4692", "DOID:0111016", "DOID:11367", "DOID:4251", "DOID:13452", "DOID:0061232", "DOID:1748", "DOID:0110587", "DOID:0061107", "DOID:0110405", "DOID:0110581", "DOID:10376", "DOID:0070363", "DOID:0112162", "DOID:0110863", "DOID:0110543", "DOID:4250", "DOID:0061029", "DOID:13910", "DOID:0110386", "DOID:0110387", "DOID:13550", "DOID:6195", "DOID:10871", "DOID:0110265", "DOID:0110529", "DOID:0111643", "DOID:0110234", "DOID:9282", "DOID:0110463", "DOID:0111738", "DOID:0060451", "DOID:4645", "DOID:0080669", "DOID:0110233", "DOID:0070441", "DOID:0110411", "DOID:0110471", "DOID:1068", "DOID:2952", "DOID:0061298", "DOID:0110025", "DOID:0110238", "DOID:0111635", "DOID:0110574", "DOID:0060116", "DOID:0110331", "DOID:13208", "DOID:0111026", "DOID:0050155", "DOID:0110120", "DOID:0111570", "DOID:0080263", "DOID:0111010", "DOID:0110010", "DOID:14686", "DOID:6929", "DOID:0061124", "DOID:0110864", "DOID:0110392", "DOID:0110855", "DOID:0060450", "DOID:0060690", "DOID:0110517", "DOID:0080634", "DOID:0110575", "DOID:0111019", "DOID:0060763", "DOID:4449", "DOID:7736", "DOID:1432", "DOID:0081448", "DOID:0110384", "DOID:0060456", "DOID:0080609", "DOID:0110573", "DOID:0110245", "DOID:0080613", "DOID:0060457", "DOID:0050593", "DOID:0110008", "DOID:0112140", "DOID:11265", "DOID:0110473", "DOID:0110380", "DOID:0110408", "DOID:0070609", "DOID:0060649", "DOID:0110521", "DOID:768", "DOID:0111648", "DOID:0110241", "DOID:0110409", "DOID:0110373", "DOID:0110480", "DOID:0111751", "DOID:0080160", "DOID:0111413", "DOID:0060442", "DOID:0080267", "DOID:0110551", "DOID:0060836", "DOID:0050335", "DOID:0110079", "DOID:0111013", "DOID:12029", "DOID:0061104", "DOID:0060864", "DOID:0070344", "DOID:0110271", "DOID:0110239", "DOID:0110371", "DOID:0110372" ], "unlinked_id_list": [ "DOID:1242", "DOID:8500", "DOID:0060440", "DOID:12571", "DOID:240", "DOID:0060116", "DOID:6970", "DOID:0111148", "DOID:0070310", "DOID:0080637", "DOID:2007", "DOID:2889", "DOID:2174", "DOID:1400", "DOID:12657", "DOID:6929", "DOID:12318", "DOID:0060030", "DOID:5782", "DOID:0111757", "DOID:9720", "DOID:771", "DOID:0060443", "DOID:0060442", "DOID:379", "DOID:5467", "DOID:3480", "DOID:1393", "DOID:2462", "DOID:1237", "DOID:0111797", "DOID:9848", "DOID:4645", "DOID:0060441", "DOID:9799", "DOID:9794", "DOID:5100", "DOID:9847", "DOID:3479", "DOID:0070438" ], "crossref": [ { "id": "DOID:0050155", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050155", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A5PF33-1", "uniprot_ac": "A5PF33", "uniprot_id": "A5PF33_DANRE", "refseq_ac": "XP_005172880", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "F-box-like/WD repeat-containing protein TBL1XR1a isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "tbl1xr1a", "type": "recommended" }, { "name": "CH211-51H4.1", "type": "synonym" }, { "name": "TBL1XR1", "type": "synonym" }, { "name": "fc46g07", "type": "synonym" }, { "name": "tbl1xr1a", "type": "synonym" }, { "name": "wu:fc46g07", "type": "synonym" }, { "name": "zgc:110312", "type": "synonym" } ], "record_id": "A5PF33-1", "evidence": [ { "id": "0050155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050155" } ] }, { "uniprot_canonical_ac": "Q8BHJ5-1", "uniprot_ac": "Q8BHJ5", "uniprot_id": "TBL1R_MOUSE", "refseq_ac": "NP_109657", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "F-box-like/WD repeat-containing protein TBL1XR1", "type": "recommended" }, { "name": "F-box-like/WD repeat protein TBL1XR1", "type": "synonym" }, { "name": "F-box-like/WD repeat-containing protein TBL1XR1", "type": "synonym" }, { "name": "Nuclear receptor corepressor/HDAC3 complex subunit TBLR1", "type": "synonym" }, { "name": "TBL1-related protein 1", "type": "synonym" }, { "name": "Transducin beta-like 1X-related protein 1", "type": "synonym" }, { "name": "nuclear receptor corepressor/HDAC3 complex subunit TBLR1", "type": "synonym" }, { "name": "transducin (beta)-like 1X-linked receptor 1", "type": "synonym" }, { "name": "transducin beta-like 1X-related protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Tbl1xr1", "type": "recommended" }, { "name": "8030499H02Rik", "type": "synonym" }, { "name": "A630076E03Rik", "type": "synonym" }, { "name": "C21", "type": "synonym" }, { "name": "C230089I12Rik", "type": "synonym" }, { "name": "DC42", "type": "synonym" }, { "name": "Ira1", "type": "synonym" }, { "name": "TBLR1", "type": "synonym" }, { "name": "Tbl1xr1", "type": "synonym" }, { "name": "Tblr1", "type": "synonym" } ], "record_id": "Q8BHJ5-1", "evidence": [ { "id": "0050155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050155" } ] }, { "uniprot_canonical_ac": "Q9QXE7-1", "uniprot_ac": "Q9QXE7", "uniprot_id": "TBL1X_MOUSE", "refseq_ac": "NP_065626", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "F-box-like/WD repeat-containing protein TBL1X", "type": "recommended" }, { "name": "F-box-like/WD repeat-containing protein TBL1X", "type": "synonym" }, { "name": "Transducin beta-like protein 1X", "type": "synonym" }, { "name": "transducin beta-like protein 1X", "type": "synonym" } ], "gene_names": [ { "name": "Tbl1x", "type": "recommended" }, { "name": "5330429M20", "type": "synonym" }, { "name": "Tbl1x", "type": "synonym" }, { "name": "Tbl1", "type": "synonym" } ], "record_id": "Q9QXE7-1", "evidence": [ { "id": "0050155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050155" } ] }, { "uniprot_canonical_ac": "P38262-1", "uniprot_ac": "P38262", "uniprot_id": "SIF2_YEAST", "refseq_ac": "NP_009661", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "SIR4-interacting protein SIF2", "type": "recommended" }, { "name": "Sif2p", "type": "synonym" } ], "gene_names": [ { "name": "SIF2", "type": "recommended" }, { "name": "EMB1", "type": "synonym" }, { "name": "SIF2", "type": "synonym" }, { "name": "YBR0832", "type": "synonym" } ], "record_id": "P38262-1", "evidence": [ { "id": "0050155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050155" } ] }, { "uniprot_canonical_ac": "A0A0G2JY80-1", "uniprot_ac": "A0A0G2JY80", "uniprot_id": "A0A0G2JY80_RAT", "refseq_ac": "NP_001423970", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "F-box-like/WD repeat-containing protein TBL1X", "type": "synonym" }, { "name": "TBL1X/Y related 1", "type": "synonym" } ], "gene_names": [ { "name": "Tbl1x", "type": "recommended" }, { "name": "RGD1563868", "type": "synonym" }, { "name": "Tbl1x", "type": "synonym" } ], "record_id": "A0A0G2JY80-1", "evidence": [ { "id": "0050155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050155" } ] }, { "uniprot_canonical_ac": "D3ZNF4-1", "uniprot_ac": "D3ZNF4", "uniprot_id": "D3ZNF4_RAT", "refseq_ac": "NP_001102411", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "F-box-like/WD repeat-containing protein TBL1XR1", "type": "recommended" }, { "name": "F-box-like/WD repeat-containing protein TBL1XR1 isoform 1", "type": "synonym" }, { "name": "F-box-like/WD repeat-containing protein TBL1XR1", "type": "synonym" }, { "name": "Nuclear receptor corepressor/HDAC3 complex subunit TBLR1", "type": "synonym" }, { "name": "TBL1-related protein 1", "type": "synonym" }, { "name": "TBL1X receptor 1", "type": "synonym" }, { "name": "Transducin beta-like 1X-related protein 1", "type": "synonym" }, { "name": "transducin (beta)-like 1 X-linked receptor 1", "type": "synonym" } ], "gene_names": [ { "name": "Tbl1xr1", "type": "recommended" }, { "name": "RGD1560053", "type": "synonym" }, { "name": "Tbl1xr1", "type": "synonym" } ], "record_id": "D3ZNF4-1", "evidence": [ { "id": "0050155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050155" } ] }, { "uniprot_canonical_ac": "Q95RJ9-1", "uniprot_ac": "Q95RJ9", "uniprot_id": "EBI_DROME", "refseq_ac": "NP_477329", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "F-box-like/WD repeat-containing protein ebi", "type": "recommended" }, { "name": "CG4063-PA", "type": "synonym" }, { "name": "beta transducin-like 1 protein", "type": "synonym" }, { "name": "ebi-PA", "type": "synonym" }, { "name": "ebi", "type": "synonym" }, { "name": "enhancer on chromosome 2-complementation group 2g", "type": "synonym" } ], "gene_names": [ { "name": "ebi", "type": "recommended" }, { "name": "CG4063", "type": "synonym" }, { "name": "Dmel\\CG4063", "type": "synonym" }, { "name": "E-2f", "type": "synonym" }, { "name": "E-2g", "type": "synonym" }, { "name": "Ebi", "type": "synonym" }, { "name": "FBXW4", "type": "synonym" }, { "name": "Tb11", "type": "synonym" }, { "name": "Tbl1", "type": "synonym" }, { "name": "ebi", "type": "synonym" }, { "name": "l(2)k16213", "type": "synonym" } ], "record_id": "Q95RJ9-1", "evidence": [ { "id": "0050155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050155" } ] }, { "uniprot_canonical_ac": "Q9BZK7-1", "uniprot_ac": "Q9BZK7", "uniprot_id": "TBL1R_HUMAN", "refseq_ac": "NP_001308122", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "F-box-like/WD repeat-containing protein TBL1XR1", "type": "recommended" }, { "name": "F-box-like/WD repeat-containing protein TBL1XR1 isoform 1", "type": "synonym" }, { "name": "F-box-like/WD repeat-containing protein TBL1XR1", "type": "synonym" }, { "name": "Nuclear receptor corepressor/HDAC3 complex subunit TBLR1", "type": "synonym" }, { "name": "TBL1-related protein 1", "type": "synonym" }, { "name": "TBL1X receptor 1", "type": "synonym" }, { "name": "Transducin beta-like 1X-related protein 1", "type": "synonym" }, { "name": "nuclear receptor corepressor/HDAC3 complex subunit TBLR1", "type": "synonym" }, { "name": "transducin beta like 1 X-linked receptor 1", "type": "synonym" } ], "gene_names": [ { "name": "TBL1XR1", "type": "recommended" }, { "name": "C21", "type": "synonym" }, { "name": "DC42", "type": "synonym" }, { "name": "IRA1", "type": "synonym" }, { "name": "MRD41", "type": "synonym" }, { "name": "TBL1XR1", "type": "synonym" }, { "name": "TBLR1", "type": "synonym" } ], "record_id": "Q9BZK7-1", "evidence": [ { "id": "0050155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050155" } ] }, { "uniprot_canonical_ac": "Q9BQ87-1", "uniprot_ac": "Q9BQ87", "uniprot_id": "TBL1Y_HUMAN", "refseq_ac": "NP_150600", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "F-box-like/WD repeat-containing protein TBL1Y", "type": "recommended" }, { "name": "F-box-like/WD repeat-containing protein TBL1Y", "type": "synonym" }, { "name": "Transducin beta-like protein 1Y", "type": "synonym" }, { "name": "Transducin-beta-like protein 1, Y-linked", "type": "synonym" }, { "name": "transducin beta-like 1", "type": "synonym" }, { "name": "transducin beta-like protein 1Y", "type": "synonym" }, { "name": "transducin-beta-like protein 1, Y-linked", "type": "synonym" } ], "gene_names": [ { "name": "TBL1Y", "type": "recommended" }, { "name": "DFNY2", "type": "synonym" }, { "name": "TBL1Y", "type": "synonym" }, { "name": "TBL1", "type": "synonym" } ], "record_id": "Q9BQ87-1", "evidence": [ { "id": "0050155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050155" } ] }, { "uniprot_canonical_ac": "O60907-1", "uniprot_ac": "O60907", "uniprot_id": "TBL1X_HUMAN", "refseq_ac": "NP_001132938", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "F-box-like/WD repeat-containing protein TBL1X", "type": "recommended" }, { "name": "F-box-like/WD repeat-containing protein TBL1X isoform a", "type": "synonym" }, { "name": "F-box-like/WD repeat-containing protein TBL1X", "type": "synonym" }, { "name": "SMAP55", "type": "synonym" }, { "name": "Transducin beta-like protein 1X", "type": "synonym" }, { "name": "Transducin-beta-like protein 1, X-linked", "type": "synonym" }, { "name": "transducin beta like 1X-linked", "type": "synonym" }, { "name": "transducin beta-like protein 1X", "type": "synonym" }, { "name": "transducin-beta-like protein 1, X-linked", "type": "synonym" } ], "gene_names": [ { "name": "TBL1X", "type": "recommended" }, { "name": "CHNG8", "type": "synonym" }, { "name": "EBI", "type": "synonym" }, { "name": "SMAP55", "type": "synonym" }, { "name": "TBL1X", "type": "synonym" }, { "name": "TBL1", "type": "synonym" } ], "record_id": "O60907-1", "evidence": [ { "id": "0050155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050155" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050155" }