loading...| Preferred Name |
Naxos disease |
| Synonyms |
Woolly hair, palmoplantar keratoderma, and cardiac abnormalities |
| ID |
http://purl.bioontology.org/ontology/MESH/C538346 |
| altLabel |
Woolly hair, palmoplantar keratoderma, and cardiac abnormalities Mal de Naxos Keratosis palmoplantaris with arrhythmogenic cardiomyopathy Palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair |
| cui |
C1832600 |
| HM |
D006201 D007645 D019571 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D019571 |
| MDA |
20100825 |
| MeSH Frequency |
24 |
| MMR |
20150927 |
| notation |
C538346 |
| prefLabel |
Naxos disease |
| SC |
3 |
| Scope Statement |
A hereditary autosomal recessive disorder that combines palmoplantar keratoderma and other ectodermal features with cardiac disorders suggesting arrhythmogenic right ventricular dysplasia/cardiomyopathy (OMIM: 107970). It was first reported in families on the Greek island of Naxos. Mutations in the JUP gene have been identified. OMIM: 601214 |
| TERMUI |
T745510 T745512 T745513 T745509 T745511 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |