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loading...| Preferred Name | Pachyonychia Congenita [Disease/Finding] | |
| Synonyms |
Congenital Pachyonychia Pachyonychia Congenita Syndrome Pachyonychia Congenita |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000181086 |
|
| altLabel |
Congenital Pachyonychia Pachyonychia Congenita Syndrome Pachyonychia Congenita |
|
| cui |
C0265334 |
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| MESH DEFINITION |
A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS. |
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| MESH DUI |
D053549 |
|
| MeSH name |
Pachyonychia Congenita |
|
| MESH UI |
M0494472 |
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| NDFRT kind |
DISEASE_KIND |
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| notation |
N0000181086 |
|
| NUI |
N0000181086 |
|
| prefLabel |
Pachyonychia Congenita [Disease/Finding] |
|
| tui |
T047 |
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| subClassOf |
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