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Metadata
ID DOID:0050811
Name congenital adrenal hyperplasia
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.
http://gallus.reactome.org/cgi-bin/instancebrowser?DB=test_gallus_reactome_release_1_myisam&ID=65160&, http://omim.org/entry/201710, http://www.genome.jp/dbget-bin/www_bget?ds:H00216, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0
Xrefs

GARD:1465

GARD:1467

ICD10CM:E25

ICD9CM:255.2

OMIM:201710

OMIM:201810

OMIM:201910

OMIM:202010

OMIM:202110

ORDO:418

SNOMEDCT_US_2020_03_01:154706003

UMLS_CUI:C0701163

Synonyms

adrenal hyperplasia 1 [EXACT]

congenital lipoid adrenal hyperplasia [EXACT]

lipoid CAH [EXACT]

Parent Relationships

is_a steroid inherited metabolic disorder

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