Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Fabry Disease

Also known as: alpha-galactosidase A deficiency Anderson-Fabry disease angiokeratoma corporis diffusum angiokeratoma diffuse GLA deficiency

NORD Rare Disease Report
Factor VII Deficiency

Also known as: Alexander's disease congenital factor VII deficiency inherited factor VII deficiency

NORD Rare Disease Report
Factor X Deficiency

Also known as: congenital factor X deficiency congenital Stuart factor deficiency F10 deficiency Stuart-Power factor deficiency

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NORD Rare Disease Report
Factor XI Deficiency

Also known as: haemophilia C hemophilia C plasma thromboplastin antecedent deficiency PTA deficiency Rosenthal syndrome

NORD Rare Disease Report
Factor XII Deficiency

Also known as: F12 deficiency HAF deficiency Hageman factor deficiency Hageman trait

NORD Rare Disease Report
Factor XIII Deficiency

Also known as: congenital factor XIII deficiency fibrin stabilizing factor deficiency inherited factor XIII deficiency

NORD Rare Disease Report
Familial Adenomatous Polyposis

Also known as: adenomatous polyposis of the colon (APC) familial multiple polyposis FAP hereditary polyposis coli multiple polyposis of the colon

NORD Rare Disease Report
Familial Hypercholesterolemia

Also known as: autosomal dominant hypercholesterolemia FH hyperlipoproteinemia, type IIA LDLR-related familial hypercholesterolemia, autosomal dominant APOB-related familial hypercholesterolemia, autosomal dominant PCSK9-related familial hypercholesterolemia, autosomal dominant

* También disponible en español

NORD Rare Disease Report
Familial Hypophosphatemia

Also known as: hereditary type I hypophosphatemia (HPDR I) hereditary type II hypophosphatemia (HPDR II) hypophosphatemic D-resistant rickets I hypophosphatemic D-resistant rickets II phosphate diabetes X-linked hypophosphatemia XLH X-linked vitamin D-resistant rickets

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