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Metadata
ID	DOID:0080543
Name	hyperprolinemia type 2
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
Xrefs	MESH:C538385 MIM:239510 ORDO:79101
Subsets	DO_rare_slim
Synonyms	hyperprolinemia type II [EXACT]
Parent Relationships	is_a hyperprolinemia is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance