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Monogenic disease
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AAA syndrome
ABCA3 deficiency
ABCC8-associated hyperinsulinism
aceruloplasminemia
achondrogenesis type 2
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acral peeling skin syndrome
acrodermatitis enteropathica
adrenocortical micronodular hyperplasia
adrenoleukodystrophies
Aicardi-Goutieres syndrome
Alagille disease
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Alpers syndrome
alpha-mannosidosis
Alstrom syndrome
Alzheimer disease
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amelogenesis imperfecta
amish type microcephaly
amyotrophic lateral sclerosis
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anauxetic dysplasia
androgen insentivity syndrome
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Antley-Bixler syndrome
APECED
Apert syndrome
aplasia of lacrimal and salivary glands
argininemia
arrhythmogenic right ventricular dysplasia
Arts syndrome
ARVD2
arylsulfatase deficiency type metachromatic leokodystrophy
ataxia telangiectasia
autoimmune lymphoproliferative syndrome
autoimmune polyglandular syndrome type 1
autosomal dominant anhidrotic ectodermal dysplasia and (...)
autosomal dominant polycystic kidney disease
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autosomal recessive microtia
autosomal recessive renal glucosuria
autosomal visceral heterotaxy
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