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Metadata
DOID DOID:0060473
Name Kabuki 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.
http://ghr.nlm.nih.gov/condition/kabuki-syndrome, https://en.wikipedia.org/wiki/Kabuki_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/25281733, https://www.ncbi.nlm.nih.gov/pubmed/25972376, https://www.ncbi.nlm.nih.gov/pubmed/26512256
Xrefs

GARD:6810

MESH:C537705

NCI:C124837

OMIM:147920

OMIM:300867

ORDO:2322

UMLS_CUI:C0796004

Subsets

DO_cancer_slim

DO_rare_slim

NCIthesaurus

Synonyms

Kabuki make up syndrome [EXACT]

KMS [EXACT]

Niikawa-Kuroki syndrome [EXACT]

Relationships

is_a syndrome

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