About: Trichorhinophalangeal Syndrome Type II     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Trichorhinophalangeal Syndrome Type II
equivalentClass
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Trichorhinophalangeal Syndrome Type II
UMLS_CUI
  • C0023003
Legacy_Concept_Name
  • Trichorhinophalangeal_Syndrome_Type_II
FULL_SYN
  • Langer-Giedion SyndromeSYNCI
  • Trichorhinophalangeal Syndrome Type IIPTNCI
DEFINITION
  • A rare, usually sporadic and less frequently familiar syndrome caused by deletions on the long arm of chromosome 8. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and large ears), multiple exostoses, redundant skin, and mental retardation.NCI
code
  • C75118
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