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Disease Ontology Browser
Kabuki syndrome (DOID:0060473)
Alliance: disease page
Synonyms: Kabuki make up syndrome; KMS; Niikawa-Kuroki syndrome
Alt IDs: OMIM:147920, OMIM:300867, ICD10CM:Q89.81, MESH:C537705, NCI:C124837, 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.

Disease References using Mouse Models (8)
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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06/16/2026
MGI 6.24 		The Jackson Laboratory