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Disease Ontology Browser
Van Maldergem syndrome (DOID:0060238)
Synonyms: cerebro-facio-articular syndrome
Alt IDs: OMIM:601390, OMIM:615546, MESH:C536530, 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.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/20/2017
MGI 6.10
The Jackson Laboratory