Search Ontology:
Human Disease

hyperprolinemia type 2

Term ID
DOID:0080543
Synonyms
  • 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. https://ghr.nlm.nih.gov/condition/hyperprolinemia
References
Ontology
Human Disease   ( DOID:0080543 )
Relationships
is a type of
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Genes Involved
Zebrafish Models