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loading...| Preferred Name |
Palmoplantar Keratoderma, Nonepidermolytic |
| Synonyms |
Nonepidermolytic Palmoplantar Keratoderma |
| ID |
http://purl.bioontology.org/ontology/MESH/C563422 |
| altLabel |
Nonepidermolytic Palmoplantar Keratoderma Keratoderma, Nonepidermolytic Palmoplantar NEPPK Nonepidermolytic Palmoplantar Keratoderma |
| cui |
C1833030 |
| HM |
D015776 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20121105 |
| MeSH Frequency |
18 |
| MMR |
20190620 |
| notation |
C563422 |
| prefLabel |
Palmoplantar Keratoderma, Nonepidermolytic |
| SC |
3 |
| Scope Statement |
Hereditary, autosomal dominant nonepidermolytic palmoplantar keratoderma that is caused by mutations in the KERATIN-1 (KRT1) gene. OMIM: 600962 |
| TERMUI |
T000961583 T802879 T802876 T802878 |
| TH |
OMIM (2013) NLM (2019) |
| tui |
T047 |
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