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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 the B4GALT1 gene on chromosome 9p21.1. https://www.ncbi.nlm.nih.gov/pubmed/11901181
Xrefs	GARD:9841 MESH:C535753 OMIM:607091 ORDO:79332 SNOMEDCT_US_2023_03_01:725587007 UMLS_CUI:C2931009
Subsets	DO_rare_slim
Synonyms	CDG IId [EXACT] CDG2D [EXACT] CDGIId [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type II