Muscular hypoplasia, congenital universal, of krabbe

Preferred Label : Muscular hypoplasia, congenital universal, of krabbe;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant; heterogeneous;

Prefixed ID : 159100;

Details

Origin ID

159100;

UMLS CUI

C1834651;

Currated CISMeF NLP mapping
- muscular hypoplasia, congenital universal, of krabbe [MeSH concept]
- muscular hypoplasia, congenital universal, of krabbe [MeSH Supplementary Concept]
HPO term(s)
- Abnormal muscle fiber morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Heterogeneous [HPO term]
- Hypoplasia of the musculature [HPO term]
- Muscle weakness [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- muscular hypoplasia, congenital universal, of krabbe [MeSH Supplementary Concept]
- muscular hypoplasia, congenital universal, of krabbe [MeSH concept]

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