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"

5 matching diseasesClear search ×

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

ORPHA:324

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

FDLAB syndrome · Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

ORPHA:412022

Familial dyskinesia and facial myokymia

FDFM

ORPHA:324588

Fibrous dysplasia/McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum

ORPHA:595216

Hereditary diffuse gastric cancer

FDGC · Familial diffuse cancer of stomach

ORPHA:26106