Adenylosuccinate lyase deficiency

Autosomal recessive

Childhood, Infancy, Neonatal

Adenylosuccinate synthetase-like 1-related distal myopathy

Autosomal recessive

Adolescent, Childhood

Adiposis dolorosa

Autosomal dominant, Not applicable

Adult

Adrenocortical carcinoma

Not applicable

Childhood

Adrenocortical carcinoma with pure aldosterone hypersecretion

Not applicable

All ages

Adrenomyodystrophy

Unknown

Infancy, Neonatal

Adult Refsum disease

Autosomal recessive

Adolescent, Adult, Childhood

Adult T-cell leukemia/lymphoma

Multigenic/multifactorial, Not applicable

Adult

Adult acute respiratory distress syndrome

Not applicable

Adult

Adult familial nephronophthisis-spastic quadriparesia syndrome

Unknown

Adult

Adult hepatocellular carcinoma

Not applicable

Adult, Elderly

Adult idiopathic neutropenia

Not applicable

Adult

Adult-onset Still disease

Not applicable

Adult, Elderly

Adult-onset autosomal dominant leukodystrophy

Autosomal dominant

Adult

Adult-onset autosomal recessive cerebellar ataxia

Autosomal recessive

Adult

Adult-onset autosomal recessive sideroblastic anemia

Autosomal recessive

Adult

Adult-onset cervical dystonia, DYT23 type

Autosomal dominant

Adult

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Autosomal dominant, Mitochondrial inheritance

Adult

Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency

Autosomal recessive

Adult-onset distal myopathy due to VCP mutation

Autosomal dominant

Adult

Adult-onset dystonia-parkinsonism

Autosomal recessive

Adolescent, Adult

Adult-onset foveomacular vitelliform dystrophy

Autosomal dominant, Not applicable

Adult

Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

Not applicable

Adult

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Autosomal dominant

Adult