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palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.
Uniprot Description A recessive syndrome characterized by XX (female to male) SRY-independent sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin.
Mondo Term and Equivalent IDs
MONDO:0012530: palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
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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:C567165
OMIM:610644
Orphanet:85112
MONDO:0012530
High level summary of knowledge for a disease, including descriptions and datasource references.