Preferred Name |
Pachyonychia Congenita |
|
Synonyms |
|
|
Definitions |
A rare genetic disorder caused by mutations in the KRT6A, KRT6B, KRT616, and KRT17 genes. It is characterized by hypertrophy and abnormalities in the shape of the fingernails and toe nails. |
|
ID |
http://purl.obolibrary.org/obo/NCIT_C84986 |
|
code |
C84986 |
|
definition |
A rare genetic disorder caused by mutations in the KRT6A, KRT6B, KRT616, and KRT17 genes. It is characterized by hypertrophy and abnormalities in the shape of the fingernails and toe nails. |
|
label |
Pachyonychia Congenita |
|
Preferred_Name |
Pachyonychia Congenita |
|
prefixIRI |
NCIT:C84986 |
|
prefLabel |
Pachyonychia Congenita |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0265334 |
|
subClassOf |
Create mapping