loading...| Preferred Name | congenital adrenal hyperplasia | |
| Synonyms |
lipoid CAH congenital lipoid adrenal hyperplasia adrenal hyperplasia 1 |
|
| Definitions |
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. Xref MGI. |
|
| 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 GARD:1465 GARD:1467 MIM:201710 MIM:201810 MIM:201910 MIM:202010 MIM:202110 ORDO:418 |
|
| 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. |
|
| 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 |