Mondo Disease Ontology

Last uploaded: February 4, 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
adrenal hyperplasia
adrenogenital syndrome
adrenogenital disorder
CAH
adrenal hyperplasia, congenital
congenital adrenal gland hyperplasia
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.
label
congenital adrenal hyperplasia
prefLabel
congenital adrenal hyperplasia
database_cross_reference
NORD:992
MedDRA:10010323
UMLS:C0001627
MESH:D000312
MEDGEN:7900
NANDO:2100134
SCTID:237751000
NANDO:1200397
GARD:1467
DOID:0050811
Orphanet:418
ICD9:255.2
icd11.foundation:172733763
NANDO:2200370
NCIT:C34360
NANDO:1200396
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notation
MONDO:0018479
in_subset
has_related_synonym
congenital lipoid adrenal hyperplasia
lipoid CAH
id
MONDO:0018479
skos_exactMatch
subClassOf
skos_closeMatch
type
has_broad_synonym
adrenal hyperplasia
adrenogenital syndrome
adrenogenital disorder
has_exact_synonym
CAH
adrenal hyperplasia, congenital
congenital adrenal gland hyperplasia
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