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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Kabuki syndrome
Summary
- Synonym
-
- KMS
- Kabuki make up syndrome
- Niikawa-Kuroki syndrome
- 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.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0060473
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
