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Metadata
ID DOID:0070255
Name congenital disorder of glycosylation type IIc
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
Xrefs

GARD:4634

MESH:C535755

NCI:C4690

OMIM:266265

ORDO:99843

SNOMEDCT_US_2023_03_01:234583001

UMLS_CUI:C0398739

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

CDG IIc [EXACT]

CDG2C [EXACT]

CDGIIc [EXACT]

Rambam-Hasharon syndrome [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital disorder of glycosylation type II

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