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"

110 matching diseasesClear search ×

Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma

ORPHA:178522

Primary cutaneous plasmacytosis

ORPHA:451602

Primary plasmacytoma of the bone

ORPHA:100021

Rare carcinoma of small intestine

Rare carcinoma of small bowel

ORPHA:423957

Rare epithelial tumor of small intestine

Rare epithelial tumor of small bowel

ORPHA:425368

Rare paroxysmal movement disorder

ORPHA:306768

Rare tumor of small intestine

Rare tumor of small bowel

ORPHA:423793

Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome

Rambaud-Gallian syndrome · Rambaud-Gallian-Touchard syndrome

ORPHA:3018

Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome

Rolandic epilepsy exercise-induced dystonia

ORPHA:163727

Short stature-pituitary and cerebellar defects-small sella turcica syndrome

ORPHA:85442

Splenic diffuse red pulp small B-cell lymphoma

SDRPL · Splenic diffuse red pulp lymphoma

ORPHA:300869

Squamous cell carcinoma of the small intestine

Squamous cell carcinoma of the small bowel

ORPHA:423968

Weismann-Netter syndrome

Toxopachyosteose diaphysaire tibio-peroniere · Anterior bowing of legs with dwarfism

ORPHA:3344

X small rings syndrome

ORPHA:96201