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congenital adrenal insufficiency

http://purl.obolibrary.org/obo/DOID_0050546

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. [ http://purl.obolibrary.org/obo/ECO_0007638 ]

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Term info

Label

congenital adrenal insufficiency

Synonyms

ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
P450scc DEFICIENCY

database cross reference

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

DOID:0050546

Term relations

Subclass of:

autosomal dominant disease
autosomal recessive disease
adrenal gland disease
has material basis in some autosomal recessive inheritance
has material basis in some autosomal dominant inheritance