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"

17 matching diseasesClear search ×

Idiopathic catatonia

Isolated catatonia · Isolated catatonic syndrome

ORPHA:648919

Camptodactyly-tall stature-scoliosis-hearing loss syndrome

Camptodactyly-tall stature-scoliosis-deafness syndrome · CATSHL syndrome

ORPHA:85164

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

ORPHA:71505

Cat-eye syndrome

CES

ORPHA:195

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

ORPHA:85199

Idiopathic dropped head syndrome

Isolated neck extensor myopathy

ORPHA:447881

Idiopathic hypereosinophilic syndrome

ORPHA:3260

Idiopathic nephrotic syndrome

ORPHA:357502

Idiopathic small fibers neuropathy

Idiopathic-SFN

ORPHA:658549

Idiopathic spontaneous coronary artery dissection

Idiopathic SCAD

ORPHA:458718

Idiopathic steroid-resistant nephrotic syndrome

Idiopathic SRNS

ORPHA:567548

Idiopathic steroid-sensitive nephrotic syndrome

ORPHA:69061

Idiopathic uveal effusion syndrome

ORPHA:209956

Inverted duplicated chromosome 15 syndrome

Inv dup (15) syndrome · idic (15) syndrome

ORPHA:3306

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

ORPHA:294016

Myotonic syndrome

ORPHA:206970

Systemic capillary leak syndrome

Capillary hyperpermeability syndrome · Capillary leak syndrome

ORPHA:188