loading...| Preferred Name | Darier Disease | |
| Synonyms |
Keratosis Follicularis Darier Disease |
|
| Definitions |
An autosomal dominant inherited chronic skin disorder caused by mutations in the ATP2A2 gene. It is characterized by the development of yellow-brown keratotic skin papules in the neck, ears, forehead, chest, back and groin. It is associated with fragility of the free margins of the nails. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84665 |
|
| code |
C84665 |
|
| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
|
| DEFINITION |
An autosomal dominant inherited chronic skin disorder caused by mutations in the ATP2A2 gene. It is characterized by the development of yellow-brown keratotic skin papules in the neck, ears, forehead, chest, back and groin. It is associated with fragility of the free margins of the nails. |
|
| FULL_SYN |
Keratosis Follicularis Darier Disease |
|
| label |
Darier Disease |
|
| Preferred_Name |
Darier Disease |
|
| prefixIRI |
Thesaurus:C84665 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0022595 |
|
| subClassOf |