1番染色体 (ヒト)
Gaucher-like disease
Gelatinous drop-like corneal dystrophy(英語版)
緑内障
難聴, autosomal recessive deafness 36
Hemochromatosis(英語版)
Hemochromatosis, type 2
Hepatoerythropoietic porphyria(英語版)
Homocystinuria
Hutchinson Gilford progeria syndrome
3-hydroxy-3-methylglutaryl-CoA lyase deficiency(英語版)
Hypertrophic cardiomyopathy(英語版), autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death
maple syrup urine disease