Rare Disease Library

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"

6 matching diseasesClear search ×

PAGOD syndrome

Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome

ORPHA:991

Diaphragmatic hernia-short bowel-asplenia syndrome

ORPHA:527468

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

ORPHA:2143

Lethal hydranencephaly-diaphragmatic hernia syndrome

ORPHA:480528

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

ORPHA:2470

Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome

ORPHA:210136