Preferred Name

congenital adrenal hyperplasia

Synonyms

adrenogenital syndrome

Definitions

group of syndromes caused by inherited defects in cortisol and/or aldosterone biosynthesis; ACTH elevation is caused by low levels of cortisol, whose production is impaired by absence or deficiency of one of the five enzymes necessary for its synthesis from cholesterol.

ID

http://purl.bioontology.org/ontology/CSP/0060-3730

altLabel

adrenogenital syndrome

cui

C0001627

C0302280

definition

group of syndromes caused by inherited defects in cortisol and/or aldosterone biosynthesis; ACTH elevation is caused by low levels of cortisol, whose production is impaired by absence or deficiency of one of the five enzymes necessary for its synthesis from cholesterol.

DID

0060-3730

Inverse of RB

http://purl.bioontology.org/ontology/CSP/2791-2966

http://purl.bioontology.org/ontology/CSP/0060-3106

http://purl.bioontology.org/ontology/CSP/1849-0057

http://purl.bioontology.org/ontology/CSP/2586-8784

Inverse of RO

http://purl.bioontology.org/ontology/CSP/0060-3370

http://purl.bioontology.org/ontology/CSP/0060-4199

notation

0060-3730

prefLabel

congenital adrenal hyperplasia

tui

T047

subClassOf

http://purl.bioontology.org/ontology/CSP/2791-2966

http://purl.bioontology.org/ontology/CSP/0060-3106

http://purl.bioontology.org/ontology/CSP/1849-0057

http://purl.bioontology.org/ontology/CSP/2586-8784

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