ZFIN Human Disease: congenital disorder of glycosylation type IIf

OBO ID: DOID:0070258

Term Name:	congenital disorder of glycosylation type IIf		Search Ontology:
Synonyms:	Carbohydrate deficient glycoprotein syndrome type IIf CDG IIf CDG2F CDGIIdf CMP-sialic acid transporter deficiency SLC35A1-CDG
Definition:	A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. https://www.ncbi.nlm.nih.gov/pubmed/11157507
References:	GARD:12409 MESH:C567040 OMIM:603585 ORDO:238459 SNOMEDCT_US_2023_03_01:723624008 UMLS_CUI:C1970344
Ontology:	Human Disease ( DOID:0070258 )

Relationships

is a type of:	autosomal recessive disease congenital disorder of glycosylation type II autosomal recessive disease congenital disorder of glycosylation type II Show first 5 Terms

OTHER congenital disorder of glycosylation type IIf PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC35A1	slc35a1	Congenital disorder of glycosylation, type IIf	603585

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None