Rare Disease Library

Familial apolipoprotein A5 deficiency

Familial apolipoprotein A-V deficiency · Familial APOA5 deficiency

AApoAI amyloidosis

Apolipoprotein A-I amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-I variant

AApoAII amyloidosis

Apolipoprotein A-II amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-II variant

Apolipoprotein A-I deficiency

ApoA-I deficiency · Familial apoA-I deficiency

Ataxia with vitamin E deficiency

AVED · Ataxia with isolated vitamin E deficiency

Congenital deficiency in alpha-fetoprotein

Familial apolipoprotein C-II deficiency

Familial apoC-II deficiency · Familial APOC2 deficiency

Familial benign copper deficiency

Familial benign hypocupremia

Familial glucocorticoid deficiency

Familial GPIHBP1 deficiency

Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency

Familial LCAT deficiency

Complete LCAT deficiency · FLD

Familial lipase maturation factor 1 deficiency

Familial LMF1 deficiency

Familial lipoprotein lipase deficiency

LPL deficiency

NAD(P)HX epimerase deficiency

Apolipoprotein A-I binding protein deficiency

Protein S acquired deficiency

Susceptibility to respiratory infections associated with CD8alpha chain mutation

Familial CD8 deficiency