congenital disorder of glycosylation, type IIH

Preferred Label : congenital disorder of glycosylation, type IIH;

MeSH note : mutation in COG8;

MeSH synonym : CDGIIH; CDG IIIH; CDG2H;

Origin ID

C566987;

UMLS CUI

C1970021;

Currated CISMeF NLP mapping
- COG8-CDG [ORDO Disease]
- Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type iih [OMIM Phenotype]
- congenital disorder of glycosylation type IIh [Disease (Nov.)]
- congenital disorder of glycosylation type IIh [DO Concept]
DO Cross reference
- congenital disorder of glycosylation type IIh [DO Concept]
MeSH term(s) associated for indexing
- congenital disorders of glycosylation [MeSH Descriptor]
Record concept(s)
- congenital disorder of glycosylation, type IIH [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- COG8-CDG [ORDO Disease]
- Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation, type iih [OMIM Phenotype]
- congenital disorder of glycosylation type IIh [Disease (Nov.)]
- congenital disorder of glycosylation type IIh [DO Concept]