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AttributesValues
rdf:type
rdfs:label
  • Robinow Syndrome
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Robinow Syndrome
UMLS_CUI
  • C0265205
FULL_SYN
  • Robinow SyndromePTNCI
DEFINITION
  • A rare autosomal recessive or dominant inherited disorder. The autosomal recessive form is caused by mutations in the ROR2 gene. There is no causative mutation identified for the autosomal dominant form. It is manifested with short limbs, abnormal facial features, underdeveloped genitalia, and wedge-shaped vertebrae.NCI
code
  • C85048
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