loading...| Preferred Name |
Darier Disease [Disease/Finding] |
|
| Synonyms |
Darier's Disease |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001742 |
|
| altLabel |
Darier's Disease Keratosis Follicularis Darier Disease Darier-White Disease |
|
| cui |
C0022595 |
|
| MESH DEFINITION |
An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES. |
|
| MESH DUI |
D007644 |
|
| MeSH name |
Darier Disease |
|
| MESH UI |
M0011973 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001742 |
|
| NUI |
N0000001742 |
|
| prefLabel |
Darier Disease [Disease/Finding] |
|
| SNOMED CID |
48611009 |
|
| tui |
T047 |
|
| subClassOf |