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"

8 matching diseasesClear search ×

Femur-fibula-ulna complex

FFU complex · Femur-fibula-ulna dysostosis

ORPHA:2019

Acropectorovertebral dysplasia

F syndrome

ORPHA:957

Apparent mineralocorticoid excess

11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome

ORPHA:320

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

ORPHA:352712

Felty syndrome

Splenomegaly-neutropenia-rheumatoid arthritis syndrome

ORPHA:47612

Miller Fisher syndrome

Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome

ORPHA:98919

Ulnar-mammary syndrome

Pallister ulnar-mammary syndrome · Schinzel syndrome

ORPHA:3138

Ulnar/fibula ray defect-brachydactyly syndrome

Morava-Mehes syndrome

ORPHA:52056