Total: 12287 diseases
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- 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