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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hyperprolinemia type 2
Summary
- Synonym
-
- hyperprolinemia type II
- Definition
- A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36.
- Super Class
- autosomal recessive disease hyperprolinemia
External Links
- Disease Ontology
- DOID:0080543
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P49419 | Alpha-aminoadipic semialdehyde dehydrogenase |
