Term Name: terminal osseous dysplasia
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 )

Relationships
is a type of: autosomal dominant disease syndrome