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DO Term : congenital adrenal hyperplasia [DOID:0050811] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency.

synonyms:
lipoid CAH,
201910,
201810,
congenital lipoid adrenal hyperplasia,
202110,
OMIM:202110,
202010,
GARD:1467,
ORDO:418,
UMLS_CUI:C0701163,
OMIM:202010,
OMIM:201810,
SNOMEDCT_US_2023_03_01:154706003,
adrenal hyperplasia 1,
ICD10CM:E25,
GARD:1465,
OMIM:201910,
201710,
OMIM:201710,
ICD9CM:255.2

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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