Additional Disease Briefs

NORD Summit 2026 Banner Ad

advanced sleep phase syndrome 2

Also known as: CSNK1D advanced sleep phase syndrome, FASPS2, advanced sleep phase syndrome caused by mutation in CSNK1D, advanced sleep phase syndrome type 2, advanced sleep phase syndrome, familial, 2, advanced sleep phase syndrome, familial, type 2, advanced sleep-phase syndrome, familial, 2, familial advanced sleep phase syndrome 2


advanced sleep phase syndrome 3

Also known as: FASPS3, PER3 advanced sleep phase syndrome, advanced sleep phase syndrome caused by mutation in PER3, advanced sleep phase syndrome type 3, advanced sleep phase syndrome, familial, 3, advanced sleep phase syndrome, familial, type 3, familial advanced sleep phase syndrome 3


AFib amyloidosis

Also known as: familial amyloid nephropathy due to fibrinogen A alpha-chain variant, fibrinogen A alpha-chain amyloidosis, hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant, hereditary renal amyloidosis due to fibrinogen A alpha-chain variant


African tick-bite fever

Also known as: Rickettsia africae spotted fever, South African tick-bite feverRickettsia africae spotted fever, South African tick-bite fever



agammaglobulinemia 2, autosomal recessive

Also known as: AGM2, IGLL1 autosomal agammaglobulinemia, agammaglobulinemia 2, autosomal recessive, agammaglobulinemia, autosomal recessive, due to IGLL1 defect, autosomal agammaglobulinemia caused by mutation in IGLL1, lambda 5 deficiency


agammaglobulinemia 3, autosomal recessive

Also known as: AGM3, CD79A autosomal agammaglobulinemia, agammaglobulinemia 3, autosomal recessive, agammaglobulinemia, autosomal recessive, due to Cd79A defect, autosomal agammaglobulinemia caused by mutation in CD79A


agammaglobulinemia 4, autosomal recessive

Also known as: AGM4, B cell linker protein deficiency, B-cell linker protein deficiency, BLNK autosomal agammaglobulinemia, BLNK deficiency, agammaglobulinemia 4, agammaglobulinemia 4, autosomal recessive, agammaglobulinemia, autosomal recessive, due to Blnk defect, autosomal agammaglobulinemia caused by mutation in BLNK


agammaglobulinemia 5, autosomal dominant

Also known as: AGM5, LRRC8A autosomal agammaglobulinemia, agammaglobulinemia 5, agammaglobulinemia 5, autosomal dominant, agammaglobulinemia, autosomal dominant, due to Lrrc8A defect, autosomal agammaglobulinemia caused by mutation in LRRC8A