Term Name: palmoplantar keratoderma and woolly hair
Synonyms: keratoderma with woolly hair type IV, PPKWH, woolly hair-palmoplantar keratoderma syndrome type 4
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.
Ontology: Human Disease [DOID:0070554]   ( DOID:0070554 )

Relationships
is a type of: autosomal recessive disease nonepidermolytic palmoplantar keratoderma