Preferred Name |
Pachyonychia Congenita |
|
Synonyms |
|
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Pachyonychia_Congenita |
|
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. |
|
isDefinedBy |
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 |
|
prefixIRI |
Thesaurus:Pachyonychia_Congenita |
|
prefLabel |
Pachyonychia Congenita |
|
subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |
Create mapping