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terminal osseous dysplasia-pigmentary defects syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
Uniprot Description A rare X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin and recurrent digital fibroma during infancy. A significant phenotypic variability is observed in affected females.
Mondo Term and Equivalent IDs
MONDO:0010279:  terminal osseous dysplasia-pigmentary defects syndrome
MESH:C564554: 
Orphanet:88630: 
UMLS:C1846129: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found