glucocorticoid deficiency 1

Summary

DOID:0080621 - glucocorticoid deficiency 1

Disease Ontology Definition:A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mc2r

MIM:

MIM:202200 - GLUCOCORTICOID DEFICIENCY 1; GCCD1

MIM:202200 - GLUCOCORTICOID DEFICIENCY 1; GCCD1

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), familial glucocorticoid deficiency (is_a)