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DO Term : Cornelia de Lange syndrome [DOID:11725] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • De Lange syndrome,
  • GARD:10109,
  • NCI:C75016,
  • MESH:D003635,
  • PS122470,
  • ORDO:199,
  • SNOMEDCT_US_2023_03_01:40354009,
  • UMLS_CUI:C0270972,
  • ICD10CM:Q87.19,
  • OMIM:PS122470,
  • Brachmann de Lange syndrome
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents