ZFIN Human Disease: congenital disorder of glycosylation type IIc

OBO ID: DOID:0070255

Term Name:	congenital disorder of glycosylation type IIc		Search Ontology:
Synonyms:	CDG IIc CDG2C CDGIIc Rambam-Hasharon syndrome
Definition:	A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. https://www.ncbi.nlm.nih.gov/pubmed/10590041
References:	GARD:4634 MESH:C535755 NCI:C4690 OMIM:266265 ORDO:99843 SNOMEDCT_US_2023_03_01:234583001 UMLS_CUI:C0398739
Ontology:	Human Disease ( DOID:0070255 )

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 IIc PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC35C1	slc35c1	Congenital disorder of glycosylation, type IIc	266265

ZEBRAFISH MODELS

Fish	Conditions	Citations
gmds^{p31erb/p31erb}	standard conditions	Song et al., 2010

PHENOTYPE No data available

CITATIONS (1)