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"

8 matching diseasesClear search ×

Pediatric hepatocellular carcinoma

Childhood-onset HCC · Childhood-onset hepatocellular carcinoma

ORPHA:33402

Childhood-onset epilepsy syndrome

ORPHA:98259

Childhood-onset hypophosphatasia

Childhood-onset phosphoethanolaminuria · Childhood-onset Rathbun disease

ORPHA:247667

Childhood-onset nemaline myopathy

Mild nemaline myopathy

ORPHA:171439

Childhood-onset schizophrenia

COS · Very early-onset schizophrenia

ORPHA:641496

Childhood-onset Steinert myotonic dystrophy

Childhood-onset Steinert disease · Childhood-onset myotonic dystrophy type 1

ORPHA:589824

Pediatric arterial ischemic stroke

Childhood AIS · Childhood arterial ischemic stroke

ORPHA:439175

Pediatric collagenous gastritis

Childhood-onset collagenous gastritis

ORPHA:487809