Preferred Name |
congenital adrenal hyperplasia |
|
Synonyms |
lipoid CAH |
|
Definitions |
Xref MGI. 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. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0050811 |
|
comment |
Xref MGI. |
|
created by |
lschriml |
|
creation_date |
2013-12-04T12:52:02Z |
|
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 |
|
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. |
|
disease has basis in | ||
has exact synonym |
lipoid CAH congenital lipoid adrenal hyperplasia adrenal hyperplasia 1 |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0050811 |
|
in_subset | ||
label |
congenital adrenal hyperplasia |
|
notation |
DOID:0050811 |
|
prefLabel |
congenital adrenal hyperplasia |
|
subClassOf |