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DOID:0090141 - cortisone reductase deficiency 1
Disease Ontology Definition:A cortisone reductase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the H6PD gene on chromosome 1p36.
Synonyms: CORTRD1,
Echinobase Genes : h6pd
MIM:604931 - cortisone reductase deficiency 1; cortrd1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
cortisone reductase deficiency (is_a)