ZFIN Human Disease: congenital adrenal insufficiency

OBO ID: DOID:0050546

Term Name:	congenital adrenal insufficiency		Search Ontology:
Synonyms:	Adrenal insufficiency, congenital, with 46,XY sex reversal ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE P450scc DEFICIENCY
Definition:	An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase. https://en.wikipedia.org/wiki/Adrenal_insufficiency
References:	OMIM:613743
Ontology:	Human Disease ( DOID:0050546 )

Relationships

is a type of:	adrenal gland disease autosomal dominant disease autosomal recessive disease physical disorder adrenal gland disease autosomal dominant disease autosomal recessive disease physical disorder Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CYP11A1	cyp11a1.2 cyp11a1.1	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete	613743

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None