FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term terminal osseous dysplasia ID (Ontology) DOID:0112149 (Human Disease)
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.
Also Known As "digital osseous dysplasia with facial pigmentary defects and multiple frenula" ; "ODPD" ; "ODPF syndrome" (for all, see Synonyms field below)
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 Genes
 terminal osseous dysplasia       2
 for disease ribbon | terminal osseous dysplasia       2
 model of | terminal osseous dysplasia       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                terminal osseous dysplasia  2 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "digital osseous dysplasia with facial pigmentary defects and multiple frenula" EXACT
    "ODPD" EXACT OMO:0003012
    "ODPF syndrome" EXACT
    "terminal osseous dysplasia-pigmentary defects syndrome" EXACT
    "TOD" EXACT OMO:0003012
    "TODPD" EXACT OMO:0003012
Secondary IDs
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MESH:C564554
MIM:300244
ORDO:88630
UMLS_CUI:C1846129