About: Monosomy 13q Syndrome     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Monosomy 13q Syndrome
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Monosomy 13q Syndrome
UMLS_CUI
  • C0265451
Contributing_Source
  • NICHD
FULL_SYN
  • Monosomy 13q SyndromePTNICHD
  • 13q Deletion SyndromeSYNCI
  • Monosomy 13q SyndromePTNCI
DEFINITION
  • A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and psychomotor retardation.NCI
code
  • C98993
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