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Abetalipoproteinemia
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Abnormal thyroid hormone metabolism
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Aceruloplasminemia/Hypoceruloplasminemia
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Achondroplasia
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Achondroplasia-SCID syndrome
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Acro-renal-ocular syndrome
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Acrocallosal syndrome
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Acrocapitofemoral dysplasia
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Acromesomelic dysplasia, Demirhan type
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Acromesomelic dysplasia, Grebe type
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Acromesomelic dysplasia, Hunter-Thompson type
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ACTH-independent macronodular adrenal hyperplasia 1
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ACTH-independent macronodular adrenal hyperplasia 2
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Acute febrile neutrophilic dermatosis
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Acute myeloid leukemia
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ADA2 deficiency
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Adrenal adenoma
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Adult hypophosphatasia
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Adult type lactose intolerance
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Afibrinogenemia
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Agammaglobulinemia, X-linked
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Age-related macula degeneration 01
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Aicardi-Goutieres syndrome
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Aicardi-Goutieres syndrome 1
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Aicardi-Goutieres syndrome 2
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Aicardi-Goutieres syndrome 3
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Aicardi-Goutieres syndrome 4
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Aicardi-Goutieres syndrome 5
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Aicardi-Goutieres syndrome 6
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Aicardi-Goutieres syndrome 7
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AIDS progression
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Al-Gazali-Bakalinova syndrome
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Alagille syndrome 2
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Albright hereditary osteodystrophy
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Allan-Herndon-Dudley syndrome
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Alloimmune thrombocytopenia
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Alport Syndrome
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Alström syndrome
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Alzheimer disease
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Alzheimer disease, mitochondrial type
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Aminoaciduria
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Amyloidosis, cerebroarterial
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Amyloidosis, cerebroarterial, Britisch type
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Amyloidosis, cerebroarterial, Danish type
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Amyloidosis, cerebroarterial, Dutch type
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Amyloidosis, cerebroarterial, Icelandic type
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Angiofibroma
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Aniridia-Wilms-tumor syndrome
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Antenatal Bartter syndrome type 1
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Antenatal Bartter syndrome type 2
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Antley-Bixler syndrome 1
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Antley-Bixler syndrome 2
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Apert syndrome
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Aplasia of lacrimal and salivary glands
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Aplastic anemia
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Apolipoprotein A-2 amyloidosis
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Apolipoprotein A1 deficiency
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Apolipoprotein A2 deficiency
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Apolipoprotein deficiency
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Apolipoprotein F deficiency
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Apolipoprotein H deficiency
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Apparent mineralocorticoid excess
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Argininosuccinic aciduria
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Arteriosclerosis
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Arthrogryposis, renal dysfunction, and cholestasis 1
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Arthrogryposis, renal dysfunction, and cholestasis 2
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Arts syndrome
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Ataxia, mitochondrial type
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Ataxia-pancytopenia syndrome
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Atopy
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Atrial septal defect 7 with or without AV conduction defects
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Attenuated cholesterol lowering by statins
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ATTR amyloidosis
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Atypical Rett syndrome
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Autism
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Autoimmune disease
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Autoimmune lymphoproliferative syndrome 5
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Autoimmune lymphoproliferative syndrome type 2
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Autoimmune polyendocrinopathy syndrome 1
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Autoimmune polyendocrinopathy syndrome 2
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Autoimmune polyendocrinopathy syndrome 3
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Autoimmune polyendocrinopathy syndrome 4
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Autoimmune polyendokrinopathy
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Autoinflammation with arthritis and dyskeratosis
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Autoinflammation, antibody deficiency, and immune dysregulation syndrome
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Autoinflammatory disease
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Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
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Autosomal dominant cerebellar ataxia, deafness and narcolepsy
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Autosomal dominant hypercholesterolemia 1
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Autosomal dominant hypercholesterolemia 2
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Autosomal dominant hypercholesterolemia 3
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Autosomal dominant hypophosphatemic rickets
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Autosomal dominant idiopathic Fanconi syndrome
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Autosomal dominant obesity
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Autosomal dominant osteopetrosis 1
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Autosomal dominant osteopetrosis 2
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Autosomal dominant polycystic kidney disease
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Autosomal dominant protein C deficiency
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Autosomal dominant protein S deficiency
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Autosomal dominant Robinow syndrome 1
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Autosomal dominant tubulointerstitial kidney disease (ADTKD)
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Autosomal recesive deafness 12
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Autosomal recessive deafness 23
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Autosomal recessive deafness 4 with enlarged vestibular aqueduct
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Autosomal recessive hypercholesterolemia
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Autosomal recessive hypophosphatemic rickets type 1
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Autosomal recessive hypophosphatemic rickets type 2
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Autosomal recessive osteopetrosis 4
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Autosomal recessive osteopetrosis 7
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Autosomal recessive polycystic kidney and hepatic disease 1
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Autosomal recessive protein C deficiency
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Autosomal recessive protein S deficiency
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Autosomal recessive Robinow syndrome
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Autosomal recessive spastic paraplegia type 44
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Axenfeld-Rieger Anomaly
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