loading...| Preferred Name | pachyonychia congenita 2 | |
| Synonyms |
pachyonychia congenita, Jackson-Lawler type pachyonychia congenita, Jackson-Lawler type, formerly PC2 KRT17 pachyonychia congenita pachyonychia congenita caused by mutation in KRT17 pachyonychia congenita type 2 pachyonychia congenita 2 |
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| Definitions |
Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008174 |
|
| database_cross_reference |
UMLS:C1721007 OMIM:167210 MEDGEN:314107 GARD:15103 |
|
| definition |
Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene. |
|
| has_exact_synonym |
KRT17 pachyonychia congenita pachyonychia congenita caused by mutation in KRT17 pachyonychia congenita type 2 pachyonychia congenita 2 |
|
| has_related_synonym |
pachyonychia congenita, Jackson-Lawler type pachyonychia congenita, Jackson-Lawler type, formerly PC2 |
|
| id |
MONDO:0008174 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare |
|
| label |
pachyonychia congenita 2 |
|
| notation |
MONDO:0008174 |
|
| preferred label |
pachyonychia congenita 2 |
|
| prefLabel |
pachyonychia congenita 2 |
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| skos_exactMatch | ||
| subClassOf |