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Metadata
ID DOID:0070256
Name congenital disorder of glycosylation type IId
Definition A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of B4GALT1 on chromosome 9p21.1.
https://www.ncbi.nlm.nih.gov/pubmed/11901181
Xrefs

GARD:9841

MESH:C535753

OMIM:607091

ORDO:79332

SNOMEDCT_US_2019_09_01:725587007

UMLS_CUI:C2931009

Synonyms

CDG IId [EXACT]

CDG2D [EXACT]

CDGIId [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital disorder of glycosylation type II

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