|  Help  |  About  |  Contact Us

DO Term : palmoplantar keratoderma and woolly hair [DOID:0070554] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • keratoderma with woolly hair type IV,
  • PPKWH,
  • woolly hair-palmoplantar keratoderma syndrome type 4,
  • OMIM:616099,
  • UMLS_CUI:C4706686,
  • UMLS_CUI:C4015202,
  • 616099,
  • ORDO:420686
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents