Guillain-Barré syndrome

Multigenic/multifactorial

All ages

Hemophilia

X-linked recessive

Antenatal, Infancy, Neonatal

Hepatocellular carcinoma

Not applicable

All ages

Hereditary angioedema

Autosomal dominant

All ages

Hereditary spastic paraplegia

Autosomal dominant, Autosomal recessive, X-linked recessive

All ages

Hodgkin lymphoma

Multigenic/multifactorial

Adolescent, Adult, Childhood, Elderly, Infancy

Homozygous 2p21 microdeletion syndrome

Not applicable

Huntington disease-like syndrome

Hypereosinophilic syndrome

Not applicable, Unknown

All ages

Hypophosphatemic rickets

Autosomal dominant, Autosomal recessive, X-linked dominant

All ages

Hypoplastic right heart syndrome

Neonatal

Hypotonia-cystinuria type 1 syndrome

Autosomal recessive

Infancy, Neonatal

Hypoxanthine-guanine phosphoribosyltransferase deficiency

X-linked recessive

All ages

Idiopathic nephrotic syndrome

All ages

IgG4-related disease

Not applicable

Adult

Immunotactoid or fibrillary glomerulopathy

Not applicable

Adult

Infantile bilateral striatal necrosis

Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable

All ages

Inherited arrhythmogenic cardiomyopathy

Autosomal dominant, Autosomal recessive

Adolescent, Adult

Intestinal lymphangiectasia

Not applicable

All ages

Isolated microphthalmia-anophthalmia-coloboma

Autosomal dominant, Autosomal recessive, X-linked recessive

Antenatal, Neonatal

Isolated punctate palmoplantar keratoderma

Autosomal dominant

Junctional epidermolysis bullosa

Autosomal recessive

Adolescent, Antenatal, Infancy, Neonatal

Juvenile idiopathic arthritis

Childhood

Keratinopathic ichthyosis