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"

4 matching diseasesClear search ×

Joubert syndrome with ocular defect

JS-O · Joubert syndrome with retinopathy

ORPHA:220493

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

ORPHA:2318

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

ORPHA:1454

Joubert syndrome with renal defect

JS-R

ORPHA:220497