Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts

Preferred Label : Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Lyon syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : 225740;

Details

Origin ID

225740;

UMLS CUI

C1856990;

Automatic exact mappings (from CISMeF team)
- encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts [MeSH concept]
- encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Cataract [HPO term]
- Congenital encephalopathy [HPO term]
- Corpus callosum atrophy [HPO term]
- Generalized hypotonia [HPO term]
- Hypotonia [HPO term]
- Necrotizing myopathy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts [MeSH Supplementary Concept]
- encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts [MeSH concept]

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