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"

11 matching diseasesClear search ×

Cystic hamartoma of lung and kidney

Graham-Boyle-Troxell syndrome

ORPHA:2111

Acrodysostosis

Acrodysplasia · Arkless-Graham syndrome

ORPHA:950

Autosomal recessive spastic paraplegia type 20

Childhood-onset spastic paraparesis-distal muscle wasting syndrome · SPG20

ORPHA:101000

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Graham-Cox syndrome

ORPHA:52055

Craniodigital-intellectual disability syndrome

Scott craniodigital syndrome · Scott-Bryant-Graham syndrome

ORPHA:1514

Gorham-Stout disease

Gorham disease · Gorham syndrome

ORPHA:73

GRACILE syndrome

Fellman disease · Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome

ORPHA:53693

Graham Little-Piccardi-Lassueur syndrome

Graham Little syndrome · Piccardi-Lassueur-Little syndrome

ORPHA:505

Grange syndrome

Grange occlusive arterial syndrome · Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

ORPHA:79094

Grant syndrome

ORPHA:2097

Pterygium colli-intellectual disability-digital anomalies syndrome

Khalifa-Graham syndrome

ORPHA:2988