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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"
PAGOD syndrome
Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome
Diaphragmatic hernia-short bowel-asplenia syndrome
Donnai-Barrow syndrome
DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome
Lethal hydranencephaly-diaphragmatic hernia syndrome
Matthew-Wood syndrome
Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome