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DO Term : congenital disorder of glycosylation type IIc [DOID:0070255] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
MESH:C535755,
ORDO:99843,
266265,
NCI:C4690,
GARD:4634,
UMLS_CUI:C0398739,
Rambam-Hasharon syndrome,
SNOMEDCT_US_2023_03_01:234583001,
CDGIIc,
CDG IIc,
OMIM:266265,
CDG2C

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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