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:
expandFriedreich Ataxia (D005621)
Parent Node:
expandHearing Loss, Sensorineural (D006319)
Parent Node:
expandOptic Atrophies, Hereditary (D015418)
..Starting node
..expandFriedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)

       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:4423
Name:Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness
Definition:
Alternative IDs:
ParentIDs:MESH:D005621|MESH:D006319|MESH:D015418
TreeNumbers:C09.218.458.341.887/C564999 |C10.228.140.252.700.150/C564999 |C10.228.854.787.200/C564999 |C10.292.700.225.500/C564999 |C10.574.500.662/C564999 |C10.574.500.825.200/C564999 |C10.597.751.418.341.887/C564999 |C11.270.564/C564999 |C11.640.451.451/C564999 |C16.320.29
Synonyms:
Slim Mappings:Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C564999
MeSH: C564999
OMIM: 136600;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001251Ataxia
3 HP:0001265Hyporeflexia
4 HP:0000648Optic atrophy
5 HP:0000407Sensorineural hearing impairment
Disease Causing ClinVar Variants