Search Ontology:
Human Disease
congenital disorder of glycosylation type IIc
- Term ID
- DOID:0070255
- Synonyms
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- 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
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- GARD:4634
- MESH:C535755
- MIM:266265
- NCI:C4690
- ORDO:99843
- SNOMEDCT_US_2023_03_01:234583001
- UMLS_CUI:C0398739
- Ontology
- Human Disease ( DOID:0070255 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models