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"

7 matching diseasesClear search ×

Childhood-onset hypophosphatasia

Childhood-onset phosphoethanolaminuria · Childhood-onset Rathbun disease

ORPHA:247667

Adult hypophosphatasia

Adult Rathbun disease · Adult phosphoethanolaminuria

ORPHA:247676

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

Hypophosphatasia

HPP · Phosphoethanolaminuria

ORPHA:436

Infantile hypophosphatasia

Infantile phosphoethanolaminuria · Infantile Rathbun disease

ORPHA:247651

Pediatric hepatocellular carcinoma

Childhood-onset HCC · Childhood-onset hepatocellular carcinoma

ORPHA:33402