46,XY difference of sex development

Acquired secondary polycythemia

Not applicable

All ages

Acute leukemia of ambiguous lineage

All ages

Acute myeloid leukemia with recurrent genetic anomaly

Agammaglobulinemia

Aggressive B-cell non-Hodgkin lymphoma

Adult

Amyloidosis

All ages

Anterior segment developmental anomaly

Autosomal dominant

Neonatal

Anterior uveitis

Not applicable

All ages

Aortic arch defects

Not applicable

Childhood

Autosomal dominant cerebellar ataxia

Autosomal dominant

All ages

Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature

Autosomal dominant

Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature

Autosomal dominant

Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature

Autosomal dominant

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant

Autosomal dominant distal myopathy

Autosomal dominant

Autosomal dominant hereditary axonal motor and sensory neuropathy

Autosomal dominant

Autosomal dominant hereditary demyelinating motor and sensory neuropathy

Autosomal dominant

Autosomal dominant hereditary sensory and autonomic neuropathy

Autosomal dominant

Autosomal dominant isolated diffuse palmoplantar keratoderma

Autosomal dominant

Autosomal dominant limb-girdle muscular dystrophy

Autosomal dominant

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal dominant

Autosomal dominant spastic ataxia

Autosomal dominant

Autosomal recessive cerebellar ataxia due to a DNA repair defect

Autosomal recessive