loading...| Preferred Name | Pachyonychia congenita 2 | |
| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/OMIM_167210 |
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| 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. |
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| has_obo_namespace |
cell_cycle_ontology |
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| id |
OMIM:167210 |
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| label |
Pachyonychia congenita 2 |
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| notation |
OMIM:167210 |
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| prefLabel |
Pachyonychia congenita 2 |
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| treeView | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://identifiers.org/omim/167210 | REXO | 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 |