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"

11 matching diseasesClear search ×

OBSOLETE: Primary parathyroid hyperplasia

OBSOLETE: Familial parathyroid hyperplasia · OBSOLETE: Hereditary parathyroid hyperplasia

ORPHA:99878

Familial isolated hyperparathyroidism

FIHPT

ORPHA:99879

Familial isolated hypoparathyroidism

ORPHA:2238

Familial primary hyperparathyroidism

ORPHA:2207

OBSOLETE: Cholesterol-ester transfer protein deficiency

OBSOLETE: CEPT deficiency · OBSOLETE: Familial hyperalphalipoproteinemia type I

ORPHA:79506

OBSOLETE: Familial cervical artery dissection

OBSOLETE: Familial CAD · OBSOLETE: Hereditary CAD

ORPHA:36382

OBSOLETE: Familial esophageal achalasia

ORPHA:99723

OBSOLETE: Familial hypospadias

ORPHA:440

OBSOLETE: Familial parathyroid adenoma

ORPHA:99877

OBSOLETE: Familial pseudohyperkalemia type 2

ORPHA:100040

OBSOLETE: Peripheral hypothyroidism

ORPHA:226310