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congenital disorder of glycosylation type IIc
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070255
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001974 | Leukocytosis |
| HP:0002002 | Deep philtrum |
| HP:0002028 | Chronic diarrhea |
| HP:0002059 | Cerebral atrophy |
| HP:0002240 | Hepatomegaly |
| HP:0002360 | Sleep abnormality |
| HP:0002719 | Recurrent infections |
| HP:0004322 | Short stature |
| HP:0005280 | Depressed nasal bridge |
| HP:0006480 | Premature loss of teeth |
