Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
X-linked progressive cerebellar ataxia

Also known as: OPCA, X-linked, SCAX1, olivopontocerebellar atrophy, X-linked, spinocerebellar ataxia, X-linked 1, spinocerebellar ataxia, X-linked 1, X-linked recessive, spinocerebellar ataxia, X-linked type 1

X-linked recessive ocular albinism

Also known as: Nettleship-Falls syndrome, Nettleship-Falls type ocular albinism, OA1, X-linked ocular albinism, XLOA, albinism, ocular, type 1, albinism, ocular, type I, ocular albinism type 1, ocular albinism, Nettleship-Falls type, ocular albinism, type I, Nettleship-Falls type

X-linked reticulate pigmentary disorder

Also known as: PDR, Partington disease, X-linked cutaneous amyloidosis, XLPDR, amyloidosis, familial cutaneous, familial cutaneous amyloidosis, pigmentary disorder, reticulate, with systemic manifestations, pigmentary disorder, reticulate, with systemic manifestations, X-linked, pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive

X-linked scapuloperoneal muscular dystrophy

Also known as: SPM, X-linked SPMD, X-linked scapuloperoneal syndrome, scapuloperoneal myopathy, FHL1-related, scapuloperoneal myopathy, X-linked dominant, scapuloperoneal myopathy, X-linked dominant, X-linked dominant

X-linked severe congenital neutropenia

Also known as: SCNX, X-linked severe congenital neutropenia, Xln, neutropenia, severe congenital, X-linked, neutropenia, severe congenital, X-linked, X-linked recessive, severe congenital neutropenia X-linked, severe congenital neutropenia, X-linked

X-linked sideroblastic anemia 1

Also known as: ANH1, SIDBA1, X chromosome-linked sideroblastic anaemia, X chromosome-linked sideroblastic anemia, X-linked sideroblastic anaemia, X-linked sideroblastic anemia, XLSA, anaemia hereditary sideroblastic, anaemia sex-linked hypochromic sideroblastic, anemia hereditary sideroblastic, anemia sex-linked hypochromic sideroblastic, anemia, hereditary sideroblastic, anemia, hypochromic, anemia, sideroblastic, 1, anemia, sideroblastic, 1, X-linked recessive, anemia, sideroblastic, X-linked, erythroid 5-aminolevulinate synthase deficiency, hereditary iron-loading Anaemia, hereditary iron-loading Anemia, sideroblastic anaemia X-linked, sideroblastic anemia X-linked, sideroblastic anemia, X-linked

X-linked sideroblastic anemia with ataxia

Also known as: ASAT, Pagon Bird Detter syndrome, Pagon-Bird-Detter syndrome, X-linked sideroblastic Anaemia and ataxia, X-linked sideroblastic Anemia and ataxia, X-linked sideroblastic anaemia and ataxia, X-linked sideroblastic anaemia and spinocerebellar ataxia, X-linked sideroblastic anaemia with spinocerebellar ataxia, X-linked sideroblastic anemia and ataxia, X-linked sideroblastic anemia and spinocerebellar ataxia, X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with spinocerebellar ataxia, XLSA-A, Xlsa-A, anaemia sideroblastic and spinocerebellar ataxia, anemia sideroblastic and spinocerebellar ataxia, anemia, Sex-linked hypochromic Siderobla, anemia, sideroblastic, and spinocerebellar ataxia, anemia, sideroblastic, with ataxia, X-linked recessive, sideroblastic anaemia with spinocerebellar ataxia, sideroblastic anemia with spinocerebellar ataxia

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