Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Hearing Loss, Sensorineural (D006319)
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Muscular Diseases (D009135)
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Ophthalmoplegia (D009886)
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Optic Atrophies, Hereditary (D015418)
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Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)

       Child Nodes:



 Sister Nodes: 
..expandBerk-Tabatznik syndrome (C535432)
..expandFriedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..expandGrowth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
..expandHagemoser Weinstein Bresnick syndrome (C537626)
..expandKonigsmark Knox Hussels syndrome (C537214)
..expandMetaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..expandNecrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530)
..expandOptic atrophy 1 and deafness (C537124)
..expandOptic Atrophy 4 (C565343)
..expandOptic atrophy 5 (C537126)
..expandOptic atrophy 6 (C537127)
..expandOptic Atrophy 7 (C567833)
..expandOptic atrophy and cataract, autosomal dominant (C537128)
..expandOptic atrophy polyneuropathy deafness (C537129)
..expandOptic Atrophy Spastic Paraplegia Syndrome (C564084)
..expandOptic Atrophy with Demyelinating Disease of CNS (C563496)
..expandOptic Atrophy with Negative Electroretinograms (C563494)
..expandOptic Atrophy, Autosomal Dominant (D029241)
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1
..expandSenior Loken Syndrome (C537580)
..expandSenior-Loken Syndrome 3 (C564637)
..expandSenior-Loken Syndrome 5 (C563763)
..expandSenior-Loken Syndrome 6 (C565708)
..expandSpastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..expandSpastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..expandWolfram Syndrome (D014929) Child1
..expandWolfram Syndrome, Mitochondrial Form (C564012)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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