FB2026_03 , released September 17, 2026
CV Term Report
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Term otopalatodigital syndrome type 2 ID (Ontology) DOID:0111784 (Human Disease)
Definition An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28.
Also Known As"Andre syndrome" ; "faciopalatoosseous syndrome" ; "OPD II syndrome" (for all, see Synonyms field below)
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 otopalatodigital syndrome type 2
 for disease ribbon | otopalatodigital syndrome type 2
 model of | otopalatodigital syndrome type 2
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X-linked monogenic disease
 |__X-linked dominant disease____________________
bone development disease                         |
 |__otopalatodigital syndrome spectrum disorder__|
                                                 otopalatodigital syndrome type 2  2 rec.
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Is a X-linked dominant disease
otopalatodigital syndrome spectrum disorder
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Synonyms
  • "Andre syndrome" EXACT
    "faciopalatoosseous syndrome" EXACT
    "OPD II syndrome" EXACT
    "OPD syndrome 2" EXACT
    "OPD2" EXACT OMO:0003012
    "oto-palato-digital syndrome type 2" EXACT
    "otopalatodigital syndrome type II" EXACT
Secondary IDs
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GARD:5802
MESH:C538089
MIM:304120
ORDO:90652
SNOMEDCT_US_2025_09_01:42432003
UMLS_CUI:C1844696