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Disease Ontology Browser
terminal osseous dysplasia (DOID:0112149)
Alliance: disease page
Synonyms: digital osseous dysplasia with facial pigmentary defects and multiple frenula; ODPD; ODPF syndrome; terminal osseous dysplasia-pigmentary defects syndrome; TOD; TODPD
Alt IDs: OMIM:300244, MESH:C564554, ORDO:88630, UMLS_CUI:C1846129
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 FLNA on chromosome Xq28.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory