loading...| Preferred Name |
palmoplantar keratoderma and congenital alopecia 1 |
|
| Synonyms |
palmoplantar keratoderma and congenital alopecia, Stevanovic type autosomal dominant palmoplantar keratoderma and congenital alopecia |
|
| Definitions |
An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0111244 |
|
| Obsolete |
true |
|
| database_cross_reference |
MESH:C537050 OMIM:104100 UMLS_CUI:C1863093 GARD:604 ORDO:1010 |
|
| definition |
An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. |
|
| disease has basis in | ||
| has exact synonym |
autosomal dominant palmoplantar keratoderma and congenital alopecia PPKCA Stevanovic type PPKCA1 keratoderma-hypotrichosis-leukonychia totalis syndrome PPK-CA, Stevanovic type autosomal dominant palmoplantar hyperkeratosis and congenital alopecia palmoplantar keratoderma and congenital alopecia, Stevanovic type |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111244 |
|
| in_subset | ||
| label |
palmoplantar keratoderma and congenital alopecia 1 |
|
| notation |
DOID:0111244 |
|
| owl:deprecated |
true |
|
| prefLabel |
palmoplantar keratoderma and congenital alopecia 1 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0111244 | DOID | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0111244 | DOID | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0111244 | HHEAR | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0111244 | FNS-H | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0111244 | DOID | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0111244 | DOID | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0111244 | HHEAR | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0111244 | FNS-H | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/104100 | OMIM | LOOM |