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ZIRC
OBO ID: DOID:11725
Term Name: Cornelia de Lange syndrome Search Ontology:
Synonyms:
  • Brachmann de Lange syndrome
  • De Lange syndrome
Definition: A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. (4)
References:
  • CSP2005:2403-8925
  • GARD:10109
  • ICD10CM:Q87.1
  • MESH:D003635
  • NCI:C75016
  • OMIM:PS122470
  • ORDO:199
  • SNOMEDCT_US_2018_03_01:40354009
  • UMLS_CUI:C0270972
Ontology: Human Disease   (DOID:11725)
OTHER Cornelia de Lange syndrome PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (7)