Svensk definition
Medfödda sjukdomar, oftast autosomalt recessiva, som kännetecknas av svårartad brist på fettvävnad, extrem insulinresistens och hypertriglyceridemi.
Medfödda sjukdomar, oftast autosomalt recessiva, som kännetecknas av svårartad brist på fettvävnad, extrem insulinresistens och hypertriglyceridemi.
Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.
Inga svenska synonymer finns.
Congenital Generalized Lipodystrophies — Generalized Lipodystrophies, Congenital — Generalized Lipodystrophy, Congenital — Lipodystrophies, Congenital Generalized — Congenital Generalized Lipodystrophy — Berardinelli-Seip Congenital Lipodystrophy — Berardinelli Seip Congenital Lipodystrophy — Congenital Lipodystrophy, Berardinelli-Seip — Lipodystrophy, Berardinelli-Seip Congenital — Brunzell Syndrome (with Bone Cysts) — Syndrome, Brunzell (with Bone Cysts) — Generalized Lipodystrophy — Generalized Lipodystrophies — Lipodystrophies, Generalized — Lipodystrophy, Generalized — Total Lipodystrophy — Lipodystrophies, Total — Lipodystrophy, Total — Total Lipodystrophies — Berardinelli-Seip Syndrome — Berardinelli Seip Syndrome — Syndrome, Berardinelli-Seip — Congenital Generalized Lipodystrophy Type 1 — Lipodystrophy, Congenital Generalized, Type 1 — Berardinelli-Seip Congenital Lipodystrophy, Type 1 — Berardinelli Seip Congenital Lipodystrophy, Type 1 — Berardinelli-Seip Congenital Lipodystrophy Type 1 — Berardinelli Seip Congenital Lipodystrophy Type 1 — Lipodystrophy, Berardinelli-Seip Congenital, Type 1 — Brunzell Syndrome, AGPAT2-Related — AGPAT2-Related Brunzell Syndrome — Brunzell Syndrome, AGPAT2 Related — Syndrome, AGPAT2-Related Brunzell — Congenital Generalized Lipodystrophy Type 2 — Berardinelli-Seip Congenital Lipodystrophy, Type 2 — Berardinelli Seip Congenital Lipodystrophy, Type 2 — Berardinelli-Seip Congenital Lipodystrophy Type 2 — Berardinelli Seip Congenital Lipodystrophy Type 2 — Berardinelli Syndrome — Syndrome, Berardinelli — Brunzell Syndrome — Syndrome, Brunzell — Congenital Lipoatrophic Diabetes — Congenital Lipoatrophic Diabete — Diabete, Congenital Lipoatrophic — Diabetes, Congenital Lipoatrophic — Lipoatrophic Diabete, Congenital — Seip Syndrome — Syndrome, Seip — Total Lipodystrophy and Acromegaloid Gigantism — Lipodystrophy, Berardinelli-Seip Congenital, Type 2 — Lipoatrophic Diabetes, Congenital — Lipodystrophy, Total, And Acromegaloid Gigantism — Lipodystrophy, Congenital Generalized, Type 2 — Brunzell Syndrome, BSCL2-Related — Brunzell Syndrome, BSCL2 Related — BSCL2-Related Brunzell Syndrome — Syndrome, BSCL2-Related Brunzell