Muscular dystrophy, congenital, with rapid progression

Preferred Label : Muscular dystrophy, congenital, with rapid progression;

Symbol : MDRP;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Prefixed ID : #254100;

Details

Origin ID

254100;

UMLS CUI

C1850840;

Currated CISMeF NLP mapping
- muscular dystrophy, congenital, with rapid progression [MeSH concept]
- muscular dystrophy, congenital, with rapid progression [MeSH Supplementary Concept]
DO Cross reference
- congenital muscular dystrophy [DO Concept]
Genes related to phenotype
- Bet1 golgi vesicular membrane-trafficking protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital muscular dystrophy [HPO term]
- Muscle weakness [HPO term]
- Rapidly progressive [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- muscular dystrophy, congenital, with rapid progression [MeSH Supplementary Concept]
- muscular dystrophy, congenital, with rapid progression [MeSH concept]

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