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: Other muscle weakness and/or chronic muscle pain

ORPHA:206606

OBSOLETE: Otopalatodigital syndrome

ORPHA:669

OBSOLETE: Palpebral epidermal tumor

ORPHA:98581

OBSOLETE: Palpebral lentiginosis

ORPHA:98587

OBSOLETE: Palpebral malignant melanoma

ORPHA:98589

OBSOLETE: Palpebral nevus

ORPHA:98588

OBSOLETE: Palpebral piliary tumor

ORPHA:98590

OBSOLETE: Palpebral sebaceous gland tumor

ORPHA:98585

OBSOLETE: Palpebral tumor

ORPHA:98580

OBSOLETE: Palpebral tumor with a vascular malformation

ORPHA:98592

OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus

ORPHA:28455

OBSOLETE: Papillary carcinoma of the cervix uteri

OBSOLETE: Cervical papillary carcinoma

ORPHA:213817

OBSOLETE: Papillary fibroelastoma of the heart

OBSOLETE: Cardiac papillary fibroelastoma

ORPHA:208600

OBSOLETE: Paraneoplastic limbic encephalitis

ORPHA:163895

OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome

OBSOLETE: Fitzsimmons-Guilbert syndrome

ORPHA:2823

OBSOLETE: Partial prune belly syndrome

ORPHA:93178

OBSOLETE: Patella aplasia/hypoplasia, bilateral

ORPHA:295041

OBSOLETE: Patella aplasia/hypoplasia, unilateral

ORPHA:295038

OBSOLETE: Pediatric Castleman disease

ORPHA:93682

OBSOLETE: Pediatric polyarteritis nodosa

OBSOLETE: PAN, pediatric onset

ORPHA:93564

OBSOLETE: Pediatric Sjögren syndrome

ORPHA:93566

OBSOLETE: Pediatric systemic sclerosis

OBSOLETE: Pediatric systemic scleroderma

ORPHA:93567

OBSOLETE: Peeling skin syndrome type C

OBSOLETE: Generalized deciduous skin type C · OBSOLETE: Generalized peeling skin syndrome type C

ORPHA:263558

OBSOLETE: Peripheral dysostosis

ORPHA:1795

OBSOLETE: Peripheral hypothyroidism

ORPHA:226310

OBSOLETE: Peripheral resistance to thyroid hormones

ORPHA:97927

OBSOLETE: Perlecan-related bone disorder

ORPHA:93424

OBSOLETE: Peters anomaly-cataract syndrome

ORPHA:101033

OBSOLETE: Phakomatosis with eye involvement

ORPHA:98701

OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

OBSOLETE: Stoll-Lévy-Francfort syndrome · OBSOLETE: Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome

ORPHA:2878

OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency

OBSOLETE: PEPCK1 deficiency

ORPHA:79316

OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency

OBSOLETE: PEPCK2 deficiency

ORPHA:79317

OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies

OBSOLETE: Pierre Robin sequence associated with miscellaneous anomalies

ORPHA:138066

OBSOLETE: Pigeon-breeder lung disease

OBSOLETE: Bird fancier lung

ORPHA:99908

OBSOLETE: Pigmentation disorder with eye involvement

ORPHA:98700

OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism

ORPHA:98708

OBSOLETE: Pigmented conjunctival lesion

ORPHA:98615

OBSOLETE: Pigmented palpebral tumor

ORPHA:98586

OBSOLETE: Pili canulati

ORPHA:719

OBSOLETE: Pilotto syndrome

ORPHA:2894

OBSOLETE: Pitt-Hopkins-like syndrome

ORPHA:221150

OBSOLETE: Pituitary deficiency secondary to an anevrysm

ORPHA:95615

OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhage

ORPHA:95614

OBSOLETE: Platelet function disease associated with renal insufficiency

ORPHA:99146

OBSOLETE: Platyspondylic lethal chondrodysplasia

OBSOLETE: Akaba-Hayasaka syndrome

ORPHA:1417

OBSOLETE: Pleomorphic salivary gland adenoma

ORPHA:454821

OBSOLETE: Pleomorphic undifferentiated sarcoma

ORPHA:293190

OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk

ORPHA:330009