Rare Disease Library

Shwachman-Diamond syndrome

Pancreatic insufficiency and bone marrow dysfunction · SDS

Autoerythrocyte sensitization syndrome

GDS · Gardner-Diamond syndrome

Blue diaper syndrome

Drummond syndrome · Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome

Brachydactyly-nystagmus-cerebellar ataxia syndrome

Biemond syndrome

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

CHAND syndrome

Baughman syndrome · CHANDS

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

Ornithine decarboxylase deficiency · Bachmann-Bupp syndrome