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Disease Ontology Browser
palmoplantar keratoderma and woolly hair (DOID:0070554)
Alliance: disease page
Synonyms: keratoderma with woolly hair type IV; PPKWH; woolly hair-palmoplantar keratoderma syndrome type 4
Alt IDs: OMIM:616099, ORDO:420686, UMLS_CUI:C4015202, UMLS_CUI:C4706686
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory