Central hypoventilation syndrome

Disease Term Disease ID Gene Symbol Classification References Source
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1
209880C5562075
PHOX2B Unknown — Disgenet HPO
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1, WITH OR WITHOUT HIRSCHSPRUNG DISEASE
MONDO:0800026
PHOX2B Causal
12640453 12438263 15024693 16691592 16888290
ClinGen ClinVar GWAS catalog
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION
619482C5561963MONDO:0030537
MYO1H Causal
28779001 30366217
ClinVar Disgenet HPO
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3
619483C5561964MONDO:0030539
LBX1 Unknown — ClinVar Disgenet HPO