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Disease Ontology Browser
hyperprolinemia type 2 (DOID:0080543)
Alliance: disease page
Synonyms: hyperprolinemia type II
Alt IDs: OMIM:239510, ORDO:79101
Definition: A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36.


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
02/11/2020
MGI 6.14
The Jackson Laboratory