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hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.
Mondo Term and Equivalent IDs
MONDO:0011884:  hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
MESH:C564357: 
Orphanet:307936: 
SCTID:763658004: 
UMLS:C1843285: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found