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"

35 matching diseasesClear search ×

OBSOLETE: Familial cervical artery dissection

OBSOLETE: Familial CAD · OBSOLETE: Hereditary CAD

ORPHA:36382

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

ORPHA:1416

Familial cavitary optic disc anomaly

Familial CODA

ORPHA:464760

Familial isolated café-au-lait macules

Familial isolated CALSs · Multiple isolated café-au-lait spots

ORPHA:2678

Familial thoracic aortic aneurysm and aortic dissection

Familial TAAD · FTAAD

ORPHA:91387

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 1

OBSOLETE: CAMS1

ORPHA:141194

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2

OBSOLETE: Bonnet-Dechaume-Blanc syndrome · OBSOLETE: CAMS2

ORPHA:53719

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3

OBSOLETE: CAMS3

ORPHA:141199

OBSOLETE: Common variable immunodeficiency

OBSOLETE: CVID

ORPHA:1572

OBSOLETE: Familial articular chondrocalcinosis type 1

OBSOLETE: CCAL1

ORPHA:99781

OBSOLETE: Familial articular chondrocalcinosis type 2

OBSOLETE: CCAL2

ORPHA:99782

OBSOLETE: Familial capillary hemangioma

ORPHA:91415

OBSOLETE: Familial chondromalacia patellae

ORPHA:1428

OBSOLETE: Familial esophageal achalasia

ORPHA:99723

OBSOLETE: Familial flecked retinopathy

OBSOLETE: Hereditary flecked retinopathy

ORPHA:227786

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

ORPHA:99763

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2

OBSOLETE: Aldosterone synthase deficiency unrelated to CYP11B2 · OBSOLETE: Aldosterone synthase deficiency unrelated to the aldosterone synthase gene

ORPHA:99764

OBSOLETE: Familial hypospadias

ORPHA:440

OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1

OBSOLETE: Familial juvenile gouty nephropathy · OBSOLETE: UMOD-associated familial juvenile hyperuricemic nephropathy

ORPHA:209886

OBSOLETE: Familial lambdoid synostosis

ORPHA:3267

OBSOLETE: Familial ovarian cancer

OBSOLETE: Familial ovarian malignant tumor

ORPHA:213517

OBSOLETE: Familial parathyroid adenoma

ORPHA:99877

OBSOLETE: Familial pseudohyperkalemia type 2

ORPHA:100040

OBSOLETE: Familial pseudohyperkalemia, Cardiff type

ORPHA:100041

OBSOLETE: Familial renal cell carcinoma

ORPHA:151

OBSOLETE: Familial restrictive cardiomyopathy type 1

ORPHA:99985

OBSOLETE: Familial restrictive cardiomyopathy type 2

ORPHA:99986

OBSOLETE: Familial restrictive cardiomyopathy type 3

OBSOLETE: RCM3

ORPHA:218432

OBSOLETE: Familial segmental neurofibromatosis

ORPHA:79428

OBSOLETE: Familial spinal neurofibromatosis

ORPHA:79429

OBSOLETE: Fibrocalculous pancreatopathy

OBSOLETE: FCPD · OBSOLETE: Tropical pancreatic diabetes

ORPHA:99654

OBSOLETE: Inherited predisposition to essential thrombocythemia

OBSOLETE: Familial essential thrombocythemia

ORPHA:225968

OBSOLETE: Pili canulati

ORPHA:719

OBSOLETE: Primary parathyroid hyperplasia

OBSOLETE: Familial parathyroid hyperplasia · OBSOLETE: Hereditary parathyroid hyperplasia

ORPHA:99878

OBSOLETE: Primary pigmented nodular adrenocortical disease

OBSOLETE: PPNAD · OBSOLETE: Primary pigmented nodular adrenal dysplasia

ORPHA:189439