OBO ID: DOID:0080543
Term Name: hyperprolinemia type 2 Search Ontology:
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:
OTHER hyperprolinemia type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALDH4A1 Hyperprolinemia, type II 239510
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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