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"

9 matching diseasesClear search ×

Familial hyperthyroidism due to mutations in TSH receptor

Familial non-immune hyperthyroidism · Resistance to thyroid stimulating hormone

ORPHA:424

Familial gestational hyperthyroidism

ORPHA:99819

Familial hyperinsulinism

FHI · Familial hyperinsulinemic hypoglycemia

ORPHA:276525

Familial isolated hyperparathyroidism

FIHPT

ORPHA:99879

Familial isolated hypoparathyroidism

ORPHA:2238

Familial primary hyperparathyroidism

ORPHA:2207

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP

ORPHA:682

Non-familial hypertrophic cardiomyopathy

ORPHA:217598

Rare hyperthyroidism

ORPHA:181399