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chromosome 6pter-p24 deletion syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
Mondo Term and Equivalent IDs
MONDO:0012948:  chromosome 6pter-p24 deletion syndrome
MESH:C567239: 
Orphanet:96125: 
SCTID:718688008: 
UMLS:C2675486: 
UMLS:C4305276: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found