Search Ontology:
Human Disease

hyperprolinemia type 1

Term ID
DOID:0080542
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models