loading...| Preferred Name |
Keratoderma, Palmoplantar, Epidermolytic |
| Synonyms |
Keratoderma, Epidermolytic Palmoplantar |
| Definitions |
An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has been associated with mutations in the gene that codes for KERATIN-9. |
| ID |
http://purl.bioontology.org/ontology/MESH/D053546 |
| altLabel |
Keratoderma, Epidermolytic Palmoplantar Localized Epidermolytic Hyperkeratosis Unna-Thost Disease, Epidermolytic EPPK (Epidermolytic Palmoplantar Keratoderma) Localized Epidermolytic Hyperkeratoses Thost Unna Disease, Epidermolytic Epidermolytic Palmoplantar Keratodermas Palmoplantar Keratoderma, Epidermolytic Epidermolytic Palmoplantar Keratoderma Vorner Type Epidermolytic Thost-Unna Disease Epidermolytic Palmoplantar Keratoderma Hyperkeratosis, Localized Epidermolytic Epidermolytic Hyperkeratoses, Localized Palmoplantar Keratodermas, Epidermolytic Epidermolytic Unna-Thost Disease Thost-Unna Disease, Epidermolytic Keratodermas, Epidermolytic Palmoplantar Hyperkeratoses, Localized Epidermolytic EPPKs (Epidermolytic Palmoplantar Keratoderma) Epidermolytic Hyperkeratosis, Localized Greither Keratosis Keratosis of Greither Unna Thost Disease, Epidermolytic |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C1721006 C2931735 C2936837 |
| DC |
1 |
| definition |
An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has been associated with mutations in the gene that codes for KERATIN-9. |
| DX |
20070101 |
| HN |
2007 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Machine permutation |
2007 |
| Mapped from | |
| MDA |
20060705 |
| MMR |
20150618 |
| MN |
C17.800.428.435.440.500 C16.320.850.475.440.500 C17.800.827.475.440.500 |
| notation |
D053546 |
| prefLabel |
Keratoderma, Palmoplantar, Epidermolytic |
| TERMUI |
T751081 T665381 T744768 T781807 T665342 T751082 T781806 T665343 T665382 |
| TH |
NLM (2010) NLM (2007) NLM (2012) ORD (2010) OMIM (2013) |
| tui |
T047 |
| subClassOf |