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loading...| Preferred Name |
Darier Disease |
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| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C84665 |
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| code |
C84665 |
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| Contributing_Source |
Cellosaurus |
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| 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. |
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| in_subset | ||
| label |
Darier Disease |
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| Preferred_Name |
Darier Disease |
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| prefixIRI |
NCIT:C84665 |
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| prefLabel |
Darier Disease |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0022595 |
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| subClassOf |
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