loading...| Preferred Name |
obsolete apparent mineralocorticoid excess |
|
| Synonyms |
Ulick syndrome |
|
| Definitions |
An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0090121 |
|
| Obsolete |
true |
|
| definition |
An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. |
|
| has exact synonym |
Ulick syndrome |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0090121 |
|
| label |
obsolete apparent mineralocorticoid excess |
|
| notation |
DOID:0090121 |
|
| owl:deprecated |
true |
|
| prefLabel |
obsolete apparent mineralocorticoid excess |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0090121 | HHEAR | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0090121 | NIFSTD | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_320 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0090121 | HHEAR | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0090121 | NIFSTD | LOOM |