| Metadata | |
|---|---|
| ID | DOID:0112149 |
| Name | terminal osseous dysplasia |
| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
digital osseous dysplasia with facial pigmentary defects and multiple frenula [EXACT] ODPD [EXACT] ODPF syndrome [EXACT] terminal osseous dysplasia-pigmentary defects syndrome [EXACT] TOD [EXACT] TODPD [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |