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AttributesValues
rdf:type
rdfs:label
  • Mulibrey Nanism
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Mulibrey Nanism
UMLS_CUI
  • C0524582
FULL_SYN
  • Mulibrey NanismPTNCI
  • Perheentupa SyndromeSYNCI
DEFINITION
  • An autosomal recessive inherited disorder caused by mutations in the TRIM37 gene. It is characterized by marked growth retardation and abnormalities in multiple organs including heart, liver, muscle, eyes, and brain.NCI
code
  • C84906
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