Experimental Factor Ontology

Last uploaded: January 16, 2025
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Id http://purl.obolibrary.org/obo/MONDO_0018479
http://purl.obolibrary.org/obo/MONDO_0018479
Preferred Name

congenital adrenal hyperplasia
Definitions
Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease.
Synonyms
congenital lipoid adrenal hyperplasia
lipoid CAH
adrenogenital syndrome
adrenal hyperplasia
adrenogenital disorder
congenital adrenal gland hyperplasia
adrenal hyperplasia, congenital
CAH
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease.
preferred label
congenital adrenal hyperplasia
label
congenital adrenal hyperplasia
prefLabel
congenital adrenal hyperplasia
exactMatch
database_cross_reference
DOID:0050811
MESH:D000312
icd11.foundation:172733763
NANDO:2100134
MedDRA:10010323
NANDO:2200370
NANDO:1200397
NANDO:1200396
SCTID:237751000
UMLS:C0001627
MEDGEN:7900
NCIT:C34360
Orphanet:418
GARD:1467
ICD9:255.2
NORD:992
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notation
MONDO:0018479
in_subset
has_related_synonym
congenital lipoid adrenal hyperplasia
lipoid CAH
id
MONDO:0018479
subClassOf
closeMatch
type
has_broad_synonym
adrenogenital syndrome
adrenal hyperplasia
adrenogenital disorder
has_exact_synonym
congenital adrenal gland hyperplasia
adrenal hyperplasia, congenital
CAH
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