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Human Disease

Cornelia de Lange syndrome

Term ID
DOID:11725
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
  • GARD:10109
  • ICD10CM:Q87.19
  • MESH:D003635
  • MIM:PS122470
  • NCI:C75016
  • ORDO:199
  • SNOMEDCT_US_2023_03_01:40354009
  • UMLS_CUI:C0270972
Ontology
Human Disease   ( DOID:11725 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models