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ring chromosome 14

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.
Mondo Term and Equivalent IDs
MONDO:0014708:  ring chromosome 14
GARD:0006072: 
MESH:C535487: 
Orphanet:1440: 
SCTID:702345009: 
UMLS:CN233170: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found