Palmoplantar Keratoderma And Woolly Hair
Disease ID: disease_node_19361
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| Dbxref | MIM:616099, ORDO:420686, UMLS_CUI:C4015202, UMLS_CUI:C4706686 |
|---|---|
| Subclassof | DOID_0050428, DOID_0050737 |
| Data Source | DOID |
| Synonyms | PPKWH, keratoderma with woolly hair type IV, woolly hair-palmoplantar keratoderma syndrome type 4 |
| Doid Label | palmoplantar keratoderma and woolly hair |
| Doid Description | A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19361 |
| Doid Id | DOID_0070554 |
| Label | Palmoplantar Keratoderma And Woolly Hair |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)