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Kabuki syndrome 2

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Explore Associated Targets
Uniprot Description A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy.
Mondo Term and Equivalent IDs
MONDO:0010465:  Kabuki syndrome 2
UMLS:C3275495: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found