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Id http://purl.obolibrary.org/obo/DOID_0050811
http://purl.obolibrary.org/obo/DOID_0050811
Preferred Name

congenital adrenal hyperplasia
Definitions
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. Xref MGI.
Synonyms
lipoid CAH
congenital lipoid adrenal hyperplasia
adrenal hyperplasia 1
Type http://www.w3.org/2002/07/owl#Class

All Properties

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.

Xref MGI.
preferred label
congenital adrenal hyperplasia
label
congenital adrenal hyperplasia
comment
Xref MGI.
prefLabel
congenital adrenal hyperplasia
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
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notation
DOID:0050811
in_subset
creation_date
2013-12-04T12:52:02Z
id
DOID:0050811
note
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.
Xref MGI.
alternative label
lipoid CAH
congenital lipoid adrenal hyperplasia
adrenal hyperplasia 1
created by
lschriml
has_obo_namespace
disease_ontology
subClassOf
disease has basis in
type
has exact synonym
lipoid CAH
congenital lipoid adrenal hyperplasia
adrenal hyperplasia 1
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