terminal osseous dysplasia (DOID:0112149)
Alliance: disease page
Synonyms: digital osseous dysplasia with facial pigmentary defects and multiple frenula; ODPD; ODPF syndrome; terminal osseous dysplasia-pigmentary defects syndrome; TOD; TODPD
Alt IDs: OMIM:300244, MESH:C564554, ORDO:88630, UMLS_CUI:C1846129
Definition: A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28.