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 ×

Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome

DAIPT · Distal arthrogryposis with impaired proprioception and touch

ORPHA:707937

Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

Distal arthrogryposis type 5 · Distal arthrogryposis type IIB

ORPHA:1154

Arthrogryposis-severe scoliosis syndrome

Distal arthrogryposis type 4 · Distal arthrogryposis type IID

ORPHA:65720

Distal arthrogryposis

ORPHA:97120

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

ORPHA:376

Musculocontractural Ehlers-Danlos syndrome

Musculocontractural EDS · mcEDS

ORPHA:2953