OBO ID: DOID:0080542
Term Name: hyperprolinemia type 1 Search Ontology:
Synonyms:
  • 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:
Ontology: Human Disease   (DOID:0080542)
OTHER hyperprolinemia type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PRODH Hyperprolinemia, type I 239500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None