loading...| Preferred Name |
congenital adrenal hyperplasia |
| Synonyms |
adrenal hyperplasia 1 |
| 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 |
OMIM:202110 ICD9CM:255.2 OMIM:202010 GARD:1467 GARD:1465 OMIM:201810 ORDO:418 OMIM:201910 OMIM:201710 SNOMEDCT_US_2022_09_01:154706003 ICD10CM:E25 UMLS_CUI:C0701163 |
| 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 |
adrenal hyperplasia 1 lipoid CAH congenital lipoid adrenal hyperplasia |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0050811 |
| in_subset | |
| label |
congenital adrenal hyperplasia |
| notation |
DOID:0050811 |
| prefLabel |
congenital adrenal hyperplasia |
| subClassOf |