palmoplantar keratoderma and woolly hair

Summary

DOID:0070554 - palmoplantar keratoderma and woolly hair

Disease Ontology 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.

Synonyms: PPKWH, keratoderma with woolly hair type IV, woolly hair-palmoplantar keratoderma syndrome type 4,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), nonepidermolytic palmoplantar keratoderma (is_a)