Term Name: | terminal osseous dysplasia |
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Synonyms: | digital osseous dysplasia with facial pigmentary defects and multiple frenula, ODPD, ODPF syndrome, terminal osseous dysplasia-pigmentary defects syndrome, TOD, TODPD |
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. |
Ontology: | Human Disease [DOID:0112149] ( DOID:0112149 ) |