| Metadata | |
|---|---|
| ID | DOID:0070554 |
| Name | palmoplantar keratoderma and woolly hair |
| Definition | 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. https://pubmed.ncbi.nlm.nih.gov/24671081/, https://pubmed.ncbi.nlm.nih.gov/35283492 |
| Xrefs | |
| SKOS |
exactMatch ORDO:420686 exactMatch UMLS_CUI:C4706686 exactMatch UMLS_CUI:C4015202 exactMatch MIM:616099 |
| Subsets |
DO_rare_slim |
| Synonyms |
keratoderma with woolly hair type IV [EXACT] PPKWH [EXACT] woolly hair-palmoplantar keratoderma syndrome type 4 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |