Term Name: hyperprolinemia type 1
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.
Ontology: Human Disease [DOID:0080542]   ( DOID:0080542 )

Relationships
is a type of: autosomal recessive disease hyperprolinemia