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DOID:0080542 - hyperprolinemia type 1
Disease Ontology Definition:A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11.
Synonyms: hyperprolinemia type I,
Echinobase Genes : LOC583929
MIM:239500 - hyperprolinemia, type i; hpi |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)