disease arises from structure
disease arises from alteration in structure
8q12 (Human)
syndrome caused by partial chromosomal duplication
8q12 microduplication syndrome
https://github.com/monarch-initiative/mondo/issues/3492
https://rarediseases.info.nih.gov/diseases/12816/8q12-microduplication-syndrome
Orphanet:228399
MONDO:0016458
trisomy 8q12
dup(8)(q12)
GARD:12816
SCTID:719684000
UMLS:C4304504
chromosome 8q12 microduplication syndrome
The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.
partial duplication of the long arm of chromosome 8