Search Ontology:
Human Disease
hyperprolinemia type 1
- Term ID
- DOID:0080542
- Synonyms
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- hyperprolinemia type I
- Definition
- A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. https://ghr.nlm.nih.gov/condition/hyperprolinemia
- References
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- MIM:239500
- ORDO:419
- Ontology
- Human Disease ( DOID:0080542 )
- is a type of
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