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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:0005400 | Reduction of neutrophil motility |
| HP:0006887 | Intellectual disability, progressive |
| HP:0010529 | Echolalia |
| HP:0011950 | Bronchiolitis |
| HP:0100658 | Cellulitis |
