loading...| Preferred Name |
Glucocorticoid Receptor Deficiency |
|
| Synonyms |
Cortisol Resistance from Glucocorticoid Receptor Defect |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C564221 |
|
| altLabel |
Cortisol Resistance from Glucocorticoid Receptor Defect Glucocorticoid Resistance Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance GCR Deficiency Body Composition, Beneficial GCCR Deficiency |
|
| cui |
C1841973 C1841972 C1841982 |
|
| Has mapping qualifier | ||
| HM |
D011965/Q000172 D008661 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20121105 |
|
| MeSH Frequency |
71 |
|
| MMR |
20150818 |
|
| notation |
C564221 |
|
| prefLabel |
Glucocorticoid Receptor Deficiency |
|
| SC |
3 |
|
| Scope Statement |
A hereditary autosomal dominant disease characterized by increased plasma and urinary CORTISOL, resistance to adrenal suppression by DEXAMETHASONE, and the absence of clinical stigmata of CUSHING SYNDROME. Symptoms are variable but may include HYPOGLYCEMIA; HYPERTENSION, and metabolic ALKALOSIS; CHRONIC FATIGUE SYNDROME, and ANXIETY. In females, overproduction of adrenal ANDROGENS may cause INFERTILITY, ALOPECIA (male pattern bladness) HIRSUTISM, and menstrual irregularities. Caused by mutations in the NR3C1 gene. OMIM: 615962 |
|
| TERMUI |
T829418 T804432 T829417 T804426 T804429 T829415 T804431 |
|
| TH |
OMIM (2013) |
|
| tui |
T047 T033 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/615962 | OMIM | CUI | |
| http://purl.bioontology.org/ontology/OMIM/138040 | OMIM | CUI | |
| http://phenomebrowser.net/ontologies/mesh/mesh.owl#C564221 | RH-MESH | LOOM |