FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spondyloepiphyseal dysplasia-brachydactyly and distinctive speech ID (Ontology) DOID:0112287 (Human Disease)
Definition A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech.
Also Known As "Fantasy Island syndrome" ; "SED-BDS" ; "SED-brachydactyly and distinctive speech" (for all, see Synonyms field below)
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  osteochondrodysplasia
   |__spondyloepiphyseal dysplasia
       |__spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
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Synonyms
  • "Fantasy Island syndrome" EXACT
    "SED-BDS" EXACT OMO:0003012
    "SED-brachydactyly and distinctive speech" EXACT
    "spondyloepiphyseal dysplasia, Cantu type" EXACT
    "Tattoo dysplasia" EXACT
Secondary IDs
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GARD:10629
MESH:C567128
MIM:611717
ORDO:163654
SNOMEDCT_US_2023_03_01:718765003
UMLS_CUI:C2673649