Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012444 | Brain atrophy |
| HP:0012762 | Cerebral white matter atrophy |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0003577 | Congenital onset |
| HP:0000431 | Wide nasal bridge |
| HP:0001792 | Small nail |
| HP:0002059 | Cerebral atrophy |
| HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude |
| HP:0009473 | Joint contracture of the hand |
| HP:0001347 | Hyperreflexia |
