Disease Browser
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Parent Node: Hearing Loss, Sensorineural (D006319) | Parent Node: Muscular Diseases (D009135) | Parent Node: Ophthalmoplegia (D009886) | Parent Node: Optic Atrophies, Hereditary (D015418) | ..Starting node ..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
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Sister 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) 1
| ..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) 1
| ..Wolfram Syndrome, Mitochondrial Form (C564012)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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Term ID: | 8281 |
Name: | Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D006319|MESH:D009135|MESH:D009886|MESH:D015418 |
TreeNumbers: | C05.651/C565117 |C09.218.458.341.887/C565117 |C10.292.562.750/C565117 |C10.292.700.225.500/C565117 |C10.574.500.662/C565117 |C10.597.622.447/C565117 |C10.597.751.418.341.887/C565117 |C10.668.491/C565117 |C11.270.564/C565117 |C11.590.472/C565117 |C11.640.451.451/C5 |
Synonyms: | |
Slim Mappings: | Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms |
Reference: |
MedGen: C565117
MeSH: C565117
OMIM:
Genes: | Phenotypes | | Disease Causing ClinVar Variants | |
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