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 ×

Multiple pterygium-malignant hyperthermia syndrome

Froster-Iskenius-Waterson-Hall syndrome · Malignant hyperthermia-arthrogryposis-torticollis syndrome

ORPHA:2215

Arthrogryposis syndrome

ORPHA:109007

Arthrogryposis-ectodermal dysplasia syndrome

Stoll-Alembik-Finck syndrome

ORPHA:3200

Arthrogryposis-hyperkeratosis syndrome, lethal form

Johnston-Aarons-Schelley syndrome

ORPHA:1485

Arthrogryposis-severe scoliosis syndrome

Distal arthrogryposis type 4 · Distal arthrogryposis type IID

ORPHA:65720

Kuskokwim syndrome

Kuskokwim disease · Arthrogryposis-like syndrome

ORPHA:1149

Malignant hyperthermia of anesthesia

Hyperthermia of anesthesia

ORPHA:423

Native American myopathy

Congenital myopathy-cleft palate-malignant hyperthermia syndrome · Bailey-Bloch congenital myopathy

ORPHA:168572