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DOID:0112149 - terminal osseous dysplasia
Disease Ontology 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.
Synonyms: ODPD, ODPF syndrome, TOD, TODPD, digital osseous dysplasia with facial pigmentary defects and multiple frenula, terminal osseous dysplasia-pigmentary defects syndrome,
Xenbase Genes
:
flna
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)