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"

16 matching diseasesClear search ×

Craniodigital-intellectual disability syndrome

Scott craniodigital syndrome · Scott-Bryant-Graham syndrome

ORPHA:1514

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

ORPHA:915

Acrodysostosis

Acrodysplasia · Arkless-Graham syndrome

ORPHA:950

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

ORPHA:3453

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Graham-Cox syndrome

ORPHA:52055

Coxopodopatellar syndrome

Ischiopubicpatellar syndrome · Ischiocoxopodopatellar syndrome

ORPHA:1509

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

ORPHA:171839

Cystic hamartoma of lung and kidney

Graham-Boyle-Troxell syndrome

ORPHA:2111

FATCO syndrome

Hecht-Scott syndrome · Fibular aplasia-tibial campomelia-oligosyndactyly syndrome

ORPHA:2492

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

Scott syndrome

ORPHA:806