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Disease Ontology Browser
Cornelia de Lange syndrome (DOID:11725)
Synonyms: Brachmann de Lange syndrome; De Lange syndrome
Alt IDs: OMIM:122470, OMIM:300590, OMIM:300882, OMIM:610759, OMIM:614701, ICD10CM:Q87.1, MESH:D003635, NCI:C75016, ORDO:199, UMLS_CUI:C0270972
Definition: A genetic disease 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.

Disease References using Mouse Models (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/12/2017
MGI 6.10
The Jackson Laboratory