Ataxia, deafness, and cardiomyopathy

Preferred Label : Ataxia, deafness, and cardiomyopathy;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %208750;

Details

Origin ID

208750;

UMLS CUI

C1859645;

Currated CISMeF NLP mapping
- ataxia, deafness, and cardiomyopathy [MeSH concept]
- ataxia, deafness, and cardiomyopathy [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the skin [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Deafness [HPO term]
- Intellectual disability [HPO term]
- Sensorineural hearing impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ataxia, deafness, and cardiomyopathy [MeSH Supplementary Concept]
- ataxia, deafness, and cardiomyopathy [MeSH concept]

Keyword's position in hierarchy(ies) :

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