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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Jacobsen Syndrome
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Jacobsen Syndrome
UMLS_CUI
  • C0795841
Legacy_Concept_Name
  • Jacobsen_Syndrome
FULL_SYN
  • Jacobsen SyndromePTNCI
  • 11q Terminal Deletion DisorderSYNCI
DEFINITION
  • A very rare genetic syndrome caused by deletion of the terminal band of chromosome 11. It is characterized by the presence of growth and psychomotor retardation, broad nasal bridge, low set ears, strabismus, trigonocephaly, and thrombocytopenia.NCI
code
  • C75457
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