alpha-Dystroglycanopathies

Preferred Label : alpha-Dystroglycanopathies;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0542869;

UMLS CUI

C2936406;

Automatic exact mappings (from CISMeF team)
- Qualitative or quantitative defects of alpha-dystroglycan [ORDO Disease]
Currated CISMeF NLP mapping
- Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan [ORDO Disease]
Related record
- Walker-Warburg syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Qualitative or quantitative defects of alpha-dystroglycan [ORDO Disease]
- Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan [ORDO Disease]