Term Name: | hyperprolinemia type 1 |
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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 ) |