2-hydroxyglutaric aciduria

Autosomal dominant, Autosomal recessive

Childhood

ABeta2M amyloidosis

Adult

ACTH-dependent Cushing syndrome

ARX-related encephalopathy-brain malformation spectrum

Antenatal, Childhood, Infancy, Neonatal

ATP13A2-related parkinsonism

Adolescent, Childhood

Acquired Creutzfeldt-Jakob disease

Not applicable

All ages

Acquired angioedema

Not applicable

Adult

Activated PI3K-delta syndrome

Autosomal dominant

Adult, Childhood, Infancy

Acute encephalopathy with inflammation-mediated status epilepticus

All ages

Acute hepatic porphyria

Autosomal dominant, Autosomal recessive

All ages

Acute lymphoblastic leukemia

All ages

Acute myeloid leukemia

All ages

Alpha-thalassemia

Autosomal recessive

All ages

Androgen insensitivity syndrome

X-linked recessive

Antenatal, Neonatal

Anti-neutrophil cytoplasmic antibody-associated vasculitis

Arthrogryposis multiplex congenita

Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive

Neonatal

Astrocytoma

All ages

Autoimmune hemolytic anemia

Multigenic/multifactorial

All ages

Autoimmune hemolytic anemia, cold type

Multigenic/multifactorial

All ages

Autoimmune pancreatitis

Not applicable

Autosomal dominant Charcot-Marie-Tooth disease type 2

Autosomal dominant

All ages

Autosomal dominant cerebellar ataxia type I

Autosomal dominant

All ages

Autosomal dominant cerebellar ataxia type II

Autosomal dominant

Autosomal dominant cerebellar ataxia type III

Autosomal dominant

Adolescent, Adult, Childhood, Elderly