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DO Term : otopalatodigital syndrome type 1 [DOID:0111783] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28.
  • synonyms:
  • UMLS_CUI:C0265251,
  • OPD syndrome 1,
  • GARD:5121,
  • MESH:C536065,
  • oto-palato-digital syndrome type 1,
  • NCI:C118845,
  • OPD I syndrome,
  • OMIM:311300,
  • otopalatodigital syndrome type I,
  • Taybi syndrome,
  • 311300,
  • OPD1,
  • ORDO:90650,
  • SNOMEDCT_US_2023_03_01:54036001
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