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"

200 matching diseasesClear search ×

Childhood-onset nemaline myopathy

Mild nemaline myopathy

ORPHA:171439

Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome

ORPHA:466921

Childhood-onset schizophrenia

COS · Very early-onset schizophrenia

ORPHA:641496

Childhood-onset spasticity with hyperglycinemia

Childhood-onset spasticity with variant non-ketotic hyperglycinemia · Spasticity-ataxia-gait anomalies syndrome

ORPHA:401866

Childhood-onset Steinert myotonic dystrophy

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

ORPHA:589824

CHIME syndrome

Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · Congenital disorder of glycosylation due to PIGL deficiency

ORPHA:3474

Chronic eosinophilic leukemia

ORPHA:168940

Chronic hiccup

ORPHA:396