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"

56 matching diseasesClear search ×

Thoracic dysplasia-hydrocephalus syndrome

ORPHA:1861

Thymic-renal-anal-lung dysplasia

ORPHA:3326

Tibial aplasia-ectrodactyly syndrome

Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome

ORPHA:3329

Torticollis-keloids-cryptorchidism-renal dysplasia syndrome

ORPHA:3341

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

ORPHA:857

Ulbright-Hodes syndrome

Renal dysplasia-limb defects syndrome · Renal dysplasia-mesomelia-radiohumeral fusion syndrome

ORPHA:3404

Upington disease

Hip dysplasia-enchondromata-ecchondroma syndrome

ORPHA:3408

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899