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About: spondyloepiphyseal dysplasia-brachydactyly and distinctive speech     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
described by
id
  • DOID:0112287
database_cross_reference
  • GARD:10629
  • MESH:C567128
  • OMIM:611717
  • ORDO:163654
  • SNOMEDCT_US_2021_09_01:718765003
  • UMLS_CUI:C2673649
has_exact_synonym
  • Fantasy Island syndrome
  • SED-BDS
  • SED-brachydactyly and distinctive speech
  • Tattoo dysplasia
  • spondyloepiphyseal dysplasia, Cantu type
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech.
is topic of
is annotatedSource of
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