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 ×

Osteopetrosis with renal tubular acidosis

Carbonic anhydrase 2 deficiency · Guibaud-Vainsel syndrome

ORPHA:2785

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

ORPHA:2090

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

ORPHA:2095

Grisel syndrome

Atlantoaxial non-traumatic subluxation

ORPHA:662255

Guillain-Barré syndrome

GBS · Guillain-Barré-Strohl syndrome

ORPHA:2103

Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome

Rambaud-Gallian syndrome · Rambaud-Gallian-Touchard syndrome

ORPHA:3018