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terminal osseous dysplasia
Summary
- Synonym
-
- ODPD
- ODPF syndrome
- TOD
- TODPD
- digital osseous dysplasia with facial pigmentary defects and multiple frenula
- terminal osseous dysplasia-pigmentary defects syndrome
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0112149
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
