Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandHereditary Central Nervous System Demyelinating Diseases (D020279)
Parent Node:
expandOptic Atrophies, Hereditary (D015418)
..Starting node
..expandOptic Atrophy with Demyelinating Disease of CNS (C563496)

       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:8286
Name:Optic Atrophy with Demyelinating Disease of CNS
Definition:
Alternative IDs:
ParentIDs:MESH:D015418|MESH:D020279
TreeNumbers:C10.228.140.163.100.362/C563496 |C10.228.140.695.625/C563496 |C10.292.700.225.500/C563496 |C10.314.400/C563496 |C10.574.500.494/C563496 |C10.574.500.662/C563496 |C11.270.564/C563496 |C11.640.451.451/C563496 |C16.320.290.564/C563496 |C16.320.400.367/C563496 |C16.32
Synonyms:
Slim Mappings:Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: C563496
MeSH: C563496
OMIM: 165200;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001251Ataxia
3 HP:0007305CNS demyelination
4 HP:0001260Dysarthria
5 HP:0001269Hemiparesis
6 HP:0000648Optic atrophy
7 HP:0100653Optic neuritis
8 HP:0011096Peripheral demyelination
Disease Causing ClinVar Variants