loading...| Preferred Name | Cardiomyopathy dilated with woolly hair and keratoderma | |
| Synonyms |
Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair Epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma Carvajal syndrome DCWHK |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C535581 |
|
| altLabel |
Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair Epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma Carvajal syndrome DCWHK |
|
| cui |
C1854063 |
|
| HM |
D002311 D007645 D006201 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D006201 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
29 |
|
| MMR |
20200221 |
|
| notation |
C535581 |
|
| prefLabel |
Cardiomyopathy dilated with woolly hair and keratoderma |
|
| SC |
3 |
|
| Scope Statement |
A hereditary autosomal recessive disorder characterized by epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy. Woolly hair is present at birth; palmoplantar keratoderma and other keratotic signs appear around the first year of life. Cardiac abnormalities may be detected by electrocardiograph in asymptomatic patients and include dilation of the left ventricle leading to CONGESTIVE HEART FAILURE and death. Mutations in the DSP gene have been identified. OMIM: 605676 |
|
| TERMUI |
T736575 T736576 T736573 T736574 T806556 T001008206 |
|
| TH |
OMIM (2013) NLM (2021) ORD (2010) |
|
| tui |
T047 |