FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital adrenal hyperplasia ID (Ontology) DOID:0050811 (Human Disease)
Definition A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency.
Also Known As "adrenal hyperplasia 1" ; "congenital lipoid adrenal hyperplasia" ; "lipoid CAH"
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 Genes
 congenital adrenal hyperplasia      15
 for disease ribbon | congenital adrenal hyperplasia      15
 model of | congenital adrenal hyperplasia      15
Spanning Tree (Parents/Children)
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lipid metabolism disorder
 |__steroid inherited metabolic disorder__
disease                                   |
 |__physical disorder_____________________|
                                          congenital adrenal hyperplasia  15 rec.
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Is a physical disorder
steroid inherited metabolic disorder
Part of
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Synonyms
  • "adrenal hyperplasia 1" EXACT
    "congenital lipoid adrenal hyperplasia" EXACT
    "lipoid CAH" EXACT
Secondary IDs
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GARD:1465
GARD:1467
ICD10CM:E25
ICD9CM:255.2
MIM:201710
MIM:201810
MIM:201910
MIM:202010
MIM:202110
ORDO:418
SNOMEDCT_US_2023_03_01:154706003
UMLS_CUI:C0701163