Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness

Preferred Label : Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 136600;

Details

Origin ID

136600;

UMLS CUI

C1850982;

Automatic exact mappings (from CISMeF team)
- friedreich ataxia, So-Called, with optic atrophy and sensorineural deafness [MeSH Supplementary Concept]
- friedreich ataxia, So-Called, with optic atrophy and sensorineural deafness [MeSH concept]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hyporeflexia [HPO term]
- Optic atrophy [HPO term]
- Sensorineural hearing impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- friedreich ataxia, So-Called, with optic atrophy and sensorineural deafness [MeSH Supplementary Concept]
- friedreich ataxia, So-Called, with optic atrophy and sensorineural deafness [MeSH concept]

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