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"

10,911 rare diseases

OBSOLETE: Eyebrow/eyelashes structural anomaly

ORPHA:98599

OBSOLETE: Eyelashes hypertrophy

OBSOLETE: Eyelashes polytrichia · OBSOLETE: Eyelashes trichomegalia

ORPHA:98597

OBSOLETE: Facial arteriovenous malformation

ORPHA:156230

OBSOLETE: Facial asymmetry-temporal seizures syndrome

ORPHA:1167

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 cervical artery dissection

OBSOLETE: Familial CAD · OBSOLETE: Hereditary CAD

ORPHA:36382

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 idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation

ORPHA:93214

OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis

ORPHA:93217

OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis

ORPHA:93213

OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes

ORPHA:93216

OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome

OBSOLETE: Stalker-Chitayat syndrome

ORPHA:2454

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 primary hypomagnesemia with normocalciuria and normocalcemia

ORPHA:34527

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: Farmer's lung disease

ORPHA:99906

OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency

OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency · OBSOLETE: Fatal infantile HCM due to mitochondrial complex I deficiency

ORPHA:289527

OBSOLETE: Femoral agenesis/hypoplasia, bilateral

OBSOLETE: Femoral intercalary meromelia, bilateral

ORPHA:295067

OBSOLETE: Femoral agenesis/hypoplasia, unilateral

OBSOLETE: Femoral intercalary meromelia, unilateral

ORPHA:295065

OBSOLETE: Fibrocalculous pancreatopathy

OBSOLETE: FCPD · OBSOLETE: Tropical pancreatic diabetes

ORPHA:99654

OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome

ORPHA:480773

OBSOLETE: Fibular hemimelia, bilateral

OBSOLETE: Fibular longitudinal meromelia, bilateral

ORPHA:295083

OBSOLETE: Fibular hemimelia, unilateral

OBSOLETE: Fibular longitudinal meromelia, unilateral

ORPHA:295081

OBSOLETE: Foix-Alajouanine syndrome

OBSOLETE: Subacute necrotizing myelitis · OBSOLETE: Angiodysgenetic necrotizing myelopathy

ORPHA:79093

OBSOLETE: Follicular atrophoderma-basal cell carcinoma

ORPHA:79459

OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome

ORPHA:2112

OBSOLETE: Frontonasal arteriovenous malformation

ORPHA:141168

OBSOLETE: Gastric neuroendocrine tumor type 1

OBSOLETE: GNET type 1

ORPHA:481469

OBSOLETE: Gastric neuroendocrine tumor type 2

OBSOLETE: GNET type 2

ORPHA:481475

OBSOLETE: Gastric neuroendocrine tumor type 3

OBSOLETE: GNET type 3

ORPHA:481478

OBSOLETE: Gastric neuroendocrine tumor type 4

OBSOLETE: GNET type 4

ORPHA:481481