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"

13 matching diseasesClear search ×

Central congenital hypothyroidism

Secondary hypothyroidism

ORPHA:226298

Congenital hypothyroidism

ORPHA:442

Idiopathic congenital hypothyroidism

ORPHA:95717

Permanent congenital hypothyroidism

ORPHA:226292

Primary congenital hypothyroidism

ORPHA:226295

Rare adult hypothyroidism

ORPHA:177101

Rare hyperthyroidism

ORPHA:181399

Rare hypoparathyroidism

ORPHA:181405

Rare hypothyroidism

ORPHA:181396

Secondary hypereosinophilic syndrome

HES-R · Reactive hypereosinophilic syndrome

ORPHA:314962

Secondary hypoparathyroidism due to impaired parathormon secretion

ORPHA:140286

Syndromic hypothyroidism

ORPHA:177107

Transient congenital hypothyroidism

ORPHA:178045