Disease List
- HAE - See Hereditary Angioedema
- Haltia-Santavuori - See Neuronal ceroid lipofuscinosis
- hATTR amyloidosis - See Amyloidosis, hereditary, transthyretin-related
- HCSD - See Holocarboxylase synthetase deficiency
- Hemochromatosis
- Hemophilia A
- Hemophilia B
- Hepatic ductular hypoplasia - See Alagille syndrome
- Hepatofacioneurocardiovertebral syndrome - See Alagille syndrome
- Hereditary Angioedema
- Hereditary Diffuse Gastric Cancer
- Hereditary hemorrhagic telangiectasia
- Hereditary Renal Adysplasia - See Bilateral renal agenesis
- Hereditary spastic paraplegia (HSP) 5A
- HHT - See Hereditary hemorrhagic telangiectasia
- HIBM - See GNE Myopathy
- Hirschsprung disease
- HLCS deficiency - See Holocarboxylase synthetase deficiency
- HMG - See 3-hydroxy-3-methylglutaric aciduria (HMG)
- HMG-CoA lyase deficiency
- HMGCL - See HMG-CoA lyase deficiency
- Holocarboxylase deficiency - See Holocarboxylase synthetase deficiency
- Holocarboxylase synthetase deficiency
- Homocystinuria
- Houston-Harris - See Achondrogenesis
- HPP - See Hypophosphatasia
- Hunter syndrome - See Mucopolysaccharidosis Type II
- Huntington's disease
- Hurler syndrome - See Mucopolysaccharidosis Type I
- Hurler-Scheie syndrome - See Mucopolysaccharidosis Type I
- Hutchinson-gilford progeria syndrome
- Hutchinson-Gilford syndrome - See Hutchinson-gilford progeria syndrome
- hydantoin embryopathy - See Fetal hydantoin syndrome
- Hydatidiform mole
- Hyperlysinemia, Type 1 (AASS)
- Hypertrophic cardiomyopathy
- Hypophosphatasia
