About: Treacher Collins Syndrome     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Treacher Collins Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Treacher Collins Syndrome
UMLS_CUI
  • C0242387
Contributing_Source
  • NICHD
Legacy_Concept_Name
  • Treacher_Collins_Syndrome
FULL_SYN
  • Treacher Collins SyndromePTNCI
  • Mandibulofacial DysostosisSYNCI
  • Treacher Collins SyndromePTNICHD
DEFINITION
  • A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures.NCI
code
  • C75018
is someValuesFrom of
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