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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002813 | Abnormal limb bone morphology |
| HP:0003186 | Inverted nipples |
| HP:0005871 | Metaphyseal chondrodysplasia |
| HP:0009125 | Lipodystrophy |
| HP:0011024 | Abnormality of the gastrointestinal tract |
| HP:0011968 | Feeding difficulties |
| HP:0012110 | Hypoplasia of the pons |
| HP:0012157 | Subcortical cerebral atrophy |
| HP:0012305 | Coarctation of the descending aortic arch |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
