Rare Disease Library

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Booth-Haworth-Dilling syndrome · Mitochondrial encephalomyopathy-aminoacidopathy syndrome

Bamforth-Lazarus syndrome

Athyroidal hypothyroidism-spiky hair-cleft palate syndrome · Bamforth syndrome

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome