Preferred Name

congenital adrenal hyperplasia

Synonyms

lipoid CAH

Definitions

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

ID

http://purl.obolibrary.org/obo/DOID_0050811

comment

Xref MGI.

created by

lschriml

creation_date

2013-12-04T12:52:02Z

database_cross_reference

SNOMEDCT_US_2023_03_01:154706003

ICD9CM:255.2

ICD10CM:E25

UMLS_CUI:C0701163

OMIM:201910

OMIM:201710

OMIM:202010

OMIM:201810

OMIM:202110

GARD:1465

GARD:1467

ORDO:418

definition

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

disease has basis in

http://purl.obolibrary.org/obo/HP_0001197

has exact synonym

lipoid CAH

congenital lipoid adrenal hyperplasia

adrenal hyperplasia 1

has_obo_namespace

disease_ontology

id

DOID:0050811

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

congenital adrenal hyperplasia

notation

DOID:0050811

prefLabel

congenital adrenal hyperplasia

subClassOf

http://purl.obolibrary.org/obo/DOID_0080015

http://purl.obolibrary.org/obo/DOID_1701

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Delete Mapping To Ontology Source
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