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Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
Diamond-Blackfan anemia
Diamond-Blackfan anemia syndrome · Congenital PRCA
ANE syndrome
Alopecia-progressive neurological defect-endocrinopathy syndrome
Autoerythrocyte sensitization syndrome
GDS · Gardner-Diamond syndrome
Blue diaper syndrome
Drummond syndrome · Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome
Brachydactyly-nystagmus-cerebellar ataxia syndrome
Biemond syndrome
Ghosal hematodiaphyseal dysplasia
Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome
Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction · SDS