Muscular dystrophy, cardiac type

Preferred Label : Muscular dystrophy, cardiac type;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : X-linked;

Laboratory abnormalities : Carnosinuria; Elevated serum creatine phosphokinase;

Prefixed ID : 309930;

Details

Origin ID

309930;

UMLS CUI

C1442927;

Currated CISMeF NLP mapping
- muscular dystrophy, cardiac type [MeSH concept]
- muscular dystrophy, cardiac type [MeSH Supplementary Concept]
DO Cross reference
- muscular dystrophy [DO Concept]
HPO term(s)
- Abnormal EKG [HPO term]
- Cardiomyopathy [HPO term]
- Carnosinuria [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Muscular dystrophy [HPO term]
- X-linked inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- muscular dystrophy, cardiac type [MeSH Supplementary Concept]
- muscular dystrophy, cardiac type [MeSH concept]
Validated automatic mappings to NTBT
- muscular dystrophy [DO Concept]

Keyword's position in hierarchy(ies) :

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