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Disease Ontology Browser
hyperprolinemia type 1 (DOID:0080542)
Alliance: disease page
Synonyms: hyperprolinemia type I
Alt IDs: OMIM:239500, ORDO:419
Definition: A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory