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"

12 matching diseasesClear search ×

Pentalogy of Cantrell

Cantrell deformity · Cantrell syndrome

ORPHA:1335

ABCD syndrome

Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome · Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural hearing loss syndrome

ORPHA:918

Acrorenal syndrome

ORPHA:971

Anterior cutaneous nerve entrapment syndrome

ACNES · Intercostal nerve syndrome

ORPHA:51890

Arterial thoracic outlet syndrome

ATOS · Arterial TOS

ORPHA:357107

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

ORPHA:2998

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

ORPHA:2970

Thalidomide embryopathy

Fetal thalidomide syndrome

ORPHA:3312

Thomas syndrome

Potter sequence-cleft lip/palate-cardiopathy syndrome

ORPHA:3316

Thoracic outlet syndrome

TOS · Thoracic outlet compression syndrome

ORPHA:97330

Thoraco-abdominal enteric duplication

ORPHA:1759

Trigeminal trophic syndrome

TTS · Trigeminal neurotrophic ulceration

ORPHA:664901