FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term otopalatodigital syndrome type 1 ID (Ontology) DOID:0111783 (Human Disease)
Definition 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.
Also Known As "OPD I syndrome" ; "OPD syndrome 1" ; "OPD1" (for all, see Synonyms field below)
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 Genes
 otopalatodigital syndrome type 1       2
 for disease ribbon | otopalatodigital syndrome type 1       2
 model of | otopalatodigital syndrome type 1       2
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked dominant disease____________________
bone development disease                         |
 |__otopalatodigital syndrome spectrum disorder__|
                                                 otopalatodigital syndrome type 1  2 rec.
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Is a X-linked dominant disease
otopalatodigital syndrome spectrum disorder
Part of
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Synonyms
  • "OPD I syndrome" EXACT
    "OPD syndrome 1" EXACT
    "OPD1" EXACT OMO:0003012
    "oto-palato-digital syndrome type 1" EXACT
    "otopalatodigital syndrome type I" EXACT
    "Taybi syndrome" EXACT
Secondary IDs
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GARD:5121
MESH:C536065
MIM:311300
NCI:C118845
ORDO:90650
SNOMEDCT_US_2023_03_01:54036001
UMLS_CUI:C0265251