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Disease Ontology Browser
Van Maldergem syndrome (DOID:0060238)
Alliance: disease page
Synonyms: cerebro-facio-articular syndrome
Alt IDs: MESH:C536530, OMIM:PS601390, ORDO:314679, UMLS_CUI:C1832390
Definition: A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.

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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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory