loading...| Preferred Name | Pachyonychia congenita 2 | |
| Synonyms |
PC2 |
|
| Definitions |
(PC2) - An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent|sparse eyebrow and body hair, and by the presence of natal teeth. |
|
| ID |
http://identifiers.org/omim/167210 |
|
| altLabel |
PC2 |
|
| definition |
(PC2) - An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent|sparse eyebrow and body hair, and by the presence of natal teeth. |
|
| id |
OMIM:167210 |
|
| notation |
OMIM:167210 |
|
| prefLabel |
Pachyonychia congenita 2 |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/167210 | GEXO | SAME_URI | |
| http://identifiers.org/omim/167210 | RETO | SAME_URI | |
| http://purl.obolibrary.org/obo/OMIM_167210 | CCO | LOOM | |
| http://identifiers.org/omim/167210 | GEXO | LOOM | |
| http://identifiers.org/omim/167210 | RETO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0008174 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0008174 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0008174 | DOVES | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/167210 | OMIM | LOOM |