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Disease Ontology Browser
Kabuki syndrome (DOID:0060473)
Synonyms: Kabuki make up syndrome; KMS; Niikawa-Kuroki syndrome
Alt IDs: OMIM:147920, OMIM:300867, MESH:C537705, ORDO:2322, UMLS_CUI:C0796004
Definition: A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.


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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
03/14/2017
MGI 6.08
The Jackson Laboratory