Disease Browser
Parent Node: Eye Diseases, Hereditary (D015785) Parent Node: Heredodegenerative Disorders, Nervous System (D020271) Parent Node: Optic Atrophy (D009896) ..Starting node Optic Atrophies, Hereditary (D015418) Child Nodes:
........Berk-Tabatznik syndrome (C535432) ........Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999) ........Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642) ........Hagemoser Weinstein Bresnick syndrome (C537626) ........Konigsmark Knox Hussels syndrome (C537214) ........Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395) ........Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530) ........Optic atrophy 1 and deafness (C537124) ........Optic Atrophy 4 (C565343) ........Optic atrophy 5 (C537126) ........Optic atrophy 6 (C537127) ........Optic Atrophy 7 (C567833) ........Optic atrophy and cataract, autosomal dominant (C537128) ........Optic atrophy polyneuropathy deafness (C537129) ........Optic Atrophy Spastic Paraplegia Syndrome (C564084) ........Optic Atrophy with Demyelinating Disease of CNS (C563496) ........Optic Atrophy with Negative Electroretinograms (C563494) ........Optic Atrophy, Autosomal Dominant (D029241) ........Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117) ........Optic Atrophy, Hereditary, Leber (D029242) ........Senior Loken Syndrome (C537580) ........Senior-Loken Syndrome 3 (C564637) ........Senior-Loken Syndrome 5 (C563763) ........Senior-Loken Syndrome 6 (C565708) ........Spastic Paraplegia, Optic Atrophy, And Dementia (C566679) ........Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409) ........Wolfram Syndrome (D014929) ........Wolfram Syndrome, Mitochondrial Form (C564012) Sister Nodes: ..Al Gazali Khidr Prem Chandran syndrome (C535616) ..Al Gazali Sabrinathan Nair syndrome (C535617) ..Behr syndrome (C537669) ..CAPOS syndrome (C535351) ..Costeff optic atrophy syndrome (C535311) ..Jensen syndrome (C537568) ..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810) ..Mohr-Tranebjaerg syndrome (C535808) ..Optic Atrophies, Hereditary (D015418) ..OPTIC ATROPHY 2 (OMIM:311050) ..Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant (C563497) ..Optic atrophy, X-linked (C537125) ..PEHO syndrome (C536317) ..Silengo Lerone Pelizza syndrome (C537336) ..Spastic Ataxia (C564815) ..Spastic Paraplegia, Optic Atrophy, and Neuropathy (C563702) ..Treft Sanborn Carey syndrome (C536544) ..Warburg Sjo Fledelius syndrome (C536681) ..Wolfram Syndrome 2 (C565733) ..X-linked mental retardation Gustavson type (C536759) UMLS . MedGen , OMIM , CTD
Term ID: 8271 Name: Optic Atrophies, Hereditary Definition: Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER). Alternative IDs: ParentIDs: MESH:D009896|MESH:D015785|MESH:D020271 TreeNumbers: C10.292.700.225.500 |C10.574.500.662 |C11.270.564 |C11.640.451.451 |C16.320.290.564 |C16.320.400.630 Synonyms: Atrophies, Hereditary Optic |Atrophy, Hereditary Optic |Hereditary Optic Atrophies |Hereditary Optic Atrophy |Optic Atrophy, Hereditary Slim Mappings: Eye disease|Genetic disease (inborn)|Nervous system disease Reference:
MedGen: D015418
MeSH: D015418 OMIM: Genes: Phenotypes Disease Causing ClinVar Variants
Optic Atrophies, Hereditary 
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