RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 FLNA on chromosome Xq28. (DO)
Synonyms:
exact_synonym:
ODPD; ODPF; ODPF syndrome; TOD; TODPD; digital osseous dysplasia with facial pigmentary defects and multiple frenula; terminal osseous dysplasia and pigmentary defects; terminal osseous dysplasia-pigmentary defects syndrome
ClinVar Annotator: match by term: Terminal osseous dysplasia | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome