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"

10 matching diseasesClear search ×

Borderline vascular tumor

Vascular locally aggressive tumors · Vascular intermediate tumors

ORPHA:673473

Benign vascular tumor

ORPHA:673470

Intermediate Charcot-Marie-Tooth disease

Intermediate CMT · Intermediate hereditary motor and sensory neuropathy

ORPHA:476123

Intermediate collagen VI-related muscular dystrophy

Intermediate COL6-RD

ORPHA:646113

Intermediate maple syrup urine disease

Intermediate BCKD deficiency · Intermediate MSUD

ORPHA:268162

Intermediate uveitis

IU

ORPHA:279914

Malignant vascular tumor

Metastatic vascular neoplasm

ORPHA:673466

Neonatal adrenoleukodystrophy

NALD · Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder

ORPHA:44

Proximal spinal muscular atrophy type 2

Intermediate spinal muscular atrophy · Kugelberg-Welander disease

ORPHA:83418

Rare vascular tumor

ORPHA:211237