ZFIN Human Disease: glucocorticoid deficiency 1

OBO ID: DOID:0080621

Term Name:	glucocorticoid deficiency 1		Search Ontology:
Synonyms:
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. https://www.ncbi.nlm.nih.gov/pubmed/19500760
References:	OMIM:202200
Ontology:	Human Disease ( DOID:0080621 )

Relationships

is a type of:	autosomal recessive disease familial glucocorticoid deficiency autosomal recessive disease familial glucocorticoid deficiency Show first 5 Terms

OTHER glucocorticoid deficiency 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MC2R	mc2r	Glucocorticoid deficiency, due to ACTH unresponsiveness	202200

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None