FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term orofaciodigital syndrome IV ID (Ontology) DOID:0060374 (Human Disease)
Definition An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene.
Also Known As "Baraitser-Burn syndrome" ; "OFD4"
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 Genes
 orofaciodigital syndrome IV       1
 for disease ribbon | orofaciodigital syndrome IV       1
 model of | orofaciodigital syndrome IV       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
syndrome                         |
 |__orofaciodigital syndrome_____|
                                 orofaciodigital syndrome IV  1 rec.
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Is a autosomal recessive disease
orofaciodigital syndrome
Part of
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Synonyms
  • "Baraitser-Burn syndrome" EXACT
    "OFD4" EXACT OMO:0003012
Secondary IDs
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MESH:C537133
MIM:258860
ORDO:2753
SNOMEDCT_US_2023_03_01:239031000
UMLS_CUI:C0406727