OBO ID: DOID:0112149
Term Name: terminal osseous dysplasia Search Ontology:
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:
Ontology: Human Disease   ( DOID:0112149 )
OTHER terminal osseous dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FLNA Terminal osseous dysplasia 300244
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None