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keratoderma hereditarium mutilans with ichthyosis
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.
Uniprot Description A variant form of Vohwinkel syndrome without hearing loss and associated with ichthyosiform dermatosis. Clinical features include palmoplantar keratoderma, pseudoainhum and ichthyosis. Compact hyperkeratosis with round retained nuclei and hypergranulosis is observed on skin biopsies.
Mondo Term and Equivalent IDs
MONDO:0011396: keratoderma hereditarium mutilans with ichthyosis
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C565826
OMIM:604117
Orphanet:79395
SCTID:717183001
UMLS:C1858805
MONDO:0011396
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