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congenital disorder of glycosylation Id
Summary
- Synonym
-
- congenital disorder of glycosylation 1d
- Definition
- A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080556
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15305 | Phosphomannomutase 2 | |
| O75352 | Mannose-P-dolichol utilization defect 1 protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000119 | Abnormality of the genitourinary system |
| HP:0000158 | Macroglossia |
| HP:0000172 | Abnormal uvula morphology |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000365 | Hearing impairment |
| HP:0000366 | Abnormality of the nose |
| HP:0000377 | Abnormal pinna morphology |
| HP:0000478 | Abnormality of the eye |
| HP:0000518 | Cataract |
