AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 |
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AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK |
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AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC |
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AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; APLAID |
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AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD |
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AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL |
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AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K |
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AUTOSOMAL DOMINANT CUTIS LAXA |
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AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA |
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AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY |
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AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY |
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AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS |
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AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME |
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AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE |
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AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS |
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AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME |
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AUTOSOMAL RECESSIVE STICKLER SYNDROME |
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AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY |
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AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1 |
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AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 |
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