terminal osseous dysplasia

Term ID

DOID:0112149

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. https://pubmed.ncbi.nlm.nih.gov/20598277/

References

• MESH:C564554
• MIM:300244
• ORDO:88630
• UMLS_CUI:C1846129

Ontology

Human Disease   ( DOID:0112149 )