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"

9 matching diseasesClear search ×

OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1

OBSOLETE: Familial juvenile gouty nephropathy · OBSOLETE: UMOD-associated familial juvenile hyperuricemic nephropathy

ORPHA:209886

OBSOLETE: Ichthyosis associated with ocular features

ORPHA:98698

OBSOLETE: Progeria-associated arthropathy

ORPHA:99706

OBSOLETE: Secondary acute transverse myelitis

OBSOLETE: Disease-associated transverse myelitis

ORPHA:139420

OBSOLETE: Sequence or association

ORPHA:139006

OBSOLETE: Syndrome associated with Pierre Robin syndrome

OBSOLETE: Syndrome associated with Pierre Robin sequence

ORPHA:138063

OBSOLETE: Vascular tumor with associated anomalies

ORPHA:458827

OBSOLETE: Vitiligo-associated autoimmune disease

ORPHA:247871

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2

ORPHA:217330