congenital disorder of glycosylation type IIc

Summary

DOID:0070255 - congenital disorder of glycosylation type IIc

Disease Ontology 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.

Synonyms: CDG2C, CDG IIc, CDGIIc, Rambam-Hasharon syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc35c1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009953 - leukocyte adhesion deficiency type II

MONDO:0009953 - leukocyte adhesion deficiency type II

MIM:

MIM:266265 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C

MIM:266265 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital disorder of glycosylation type II (is_a)