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Disease Ontology Browser
Cornelia de Lange syndrome (DOID:11725)
Alliance: disease page
Synonyms: Brachmann de Lange syndrome; De Lange syndrome
Alt IDs: ICD10CM:Q87.19, MESH:D003635, NCI:C75016, OMIM:PS122470, ORDO:199, UMLS_CUI:C0270972
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.

Disease References using Mouse Models (5)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory