Disease List
- Aarskog disease - See Aarskog syndrome
- Aarskog syndrome
- Aarskog-Scott syndrome - See Aarskog syndrome
- AAS - See Aarskog syndrome
- AATD - See Alpha-1-antitrypsin deficiency
- ACH - See Achondroplasia
- Achondrogenesis
- Achondroplasia
- Achondroplastic dwarfism - See Achondroplasia
- acid maltase deficiency - See Pompe disease
- Acid spingomyelinase deficiency - See Niemann-pick types a/b
- Acromegaly
- Acute intermittent porphyria
- Acyl-coa dehydrogenase, medium-chain, deficiency of
- Acyl-coa dehydrogenase, short-chain, deficiency of
- Acyl-coa dehydrogenase, very long-chain, deficiency of
- Adamtsl4-related eye disorders
- ADPK - See Autosomal dominant polycystic kidney disease
- ADPK disease - See Autosomal dominant polycystic kidney disease
- ADPKD - See Autosomal dominant polycystic kidney disease
- Adrenoleukodystrophy
- Agammaglobulinemia, x-linked
- aganglionic megacolon - See Hirschsprung disease
- AGL deficiency - See Glycogen storage disease type III
- AIC - See Aicardi syndrome
- Aicardi syndrome
- Aicardi's syndrome - See Aicardi syndrome
- Alagille syndrome
- Alagille's syndrome - See Alagille syndrome
- Alagille-Watson syndrome - See Alagille syndrome
- Alkaptonuria
- Alpha-1-antitrypsin deficiency
- Alpha-Galactosidase A deficiency - See Fabry disease
- Alpha-mannosidosis
- Alpha-thalassemia
- Alpha-thalassemia/mental retardation syndrome, x-linked
- Alstrom syndrome
- Alzheimer disease
- Amylo-1,6-glucosidase deficiency - See Glycogen storage disease type III
- Amyloidosis, hereditary, transthyretin-related
- Amyotrophic lateral sclerosis 1
- Andermann syndrome
- Andersen-tawil syndrome
- Anderson-Fabry disease - See Fabry disease
- Androgen insensitivity syndrome
- Angelman syndrome
- Angiokeratoma corporis diffusum - See Fabry disease
- Aniridia
- ankylosing spondylitis
- Antley-Bixler syndrome
- AR dRTA - See Primary Distal Renal Tubular Acidosis
- ARG1 deficiency - See Argininemia
- Argininemia
- Argininosuccinic aciduria
- Arrhythmogenic right ventricular cardiomyopathy
- Arteriohepatic dysplasia - See Alagille syndrome
- Arts syndrome
- arylsulfatase B deficiency - See Mucopolysaccharidosis Type VI
- ATTR - See Amyloidosis, hereditary, transthyretin-related
- Autosomal dominant polycystic kidney disease
