Total: 12238 diseases

• mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
• 3-Methylglutaconic aciduria type 3
• Deficiency of ferroxidase
• Achondrogenesis, type IA
• Adrenocorticotropic hormone deficiency
• ADULT syndrome
• AICAR transformylase/IMP cyclohydrolase deficiency
• Alexander Disease
• Slow acetylator due to N-acetyltransferase enzyme variant
• Medium-chain acyl-coenzyme A dehydrogenase deficiency
• Total intestinal aganglionosis
• Oculocutaneous albinism type 3
• Alkaptonuria
• Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
• Hereditary acrodermatitis enteropathica
• Acromesomelic dysplasia Maroteaux type
• Acquired hemoglobin H disease
• Acanthosis nigricans
• Achromatopsia 2
• Acroleukopathy, symmetric
• Adenylosuccinate lyase deficiency
• Aicardi Goutieres syndrome 3
• Alopecia, neurologic defects, and endocrinopathy syndrome
• Persistent fetal circulation
• Aminoacylase 1 deficiency
• Alzheimer's disease
• Amyotrophic lateral sclerosis type 11
• Amyotrophic lateral sclerosis type 4
• Anemia sideroblastic and spinocerebellar ataxia
• Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
• Deficiency of aromatic-L-amino-acid decarboxylase
• Alzheimer disease 2
• Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
• Amyotrophic lateral sclerosis type 10
• Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
• Apolipoprotein C2 deficiency
• Asthma-related traits, susceptibility to, 5
• Ataxia-oculomotor apraxia type 1
• Autism, susceptibility to, X-linked 2
• Bartter syndrome, type 2, antenatal
• Basal cell carcinoma, multiple
• Beta-hydroxyisobutyryl-CoA deacylase deficiency
• Jeune thoracic dystrophy
• Atelosteogenesis type 1
• Autistic disorder of childhood onset
• Polyglandular autoimmune syndrome, type 1
• Bare lymphocyte syndrome 2
• Pili torti-deafness syndrome
• Body mass index quantitative trait locus 9
• Brachydactyly type E1