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

Pneumococcal meningitis

ORPHA:55655

Pneumoconiosis

ORPHA:182098

Pneumocystosis

ORPHA:723

Pneumonia caused by Pseudomonas aeruginosa infection

ORPHA:90066

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

ORPHA:2905

POGLUT1-related limb-girdle muscular dystrophy R21

LGMD2Z · Autosomal recessive limb-girdle muscular dystrophy type 2Z

ORPHA:480682

Poikiloderma with neutropenia

Poikiloderma with neutropenia, Clericuzio type

ORPHA:221046

Poirier-Bienvenu neurodevelopmental syndrome

ORPHA:689397

Poland syndrome

Poland anomaly · Poland sequence

ORPHA:2911

Poliomyelitis

ORPHA:2912

Pollitt syndrome

Trichorrhexis nodosa syndrome · Trichothiodystrophy type C

ORPHA:75790

Polyarteritis nodosa

Küssmaul-Maier disease · PAN

ORPHA:767

Polyarticular juvenile idiopathic arthritis

Juvenile polyarticular arthritis · Juvenile polyarthritis

ORPHA:404580

Polyclonal hyperviscosity syndrome

ORPHA:450322

Polycythemia vera

Acquired primary erythrocytosis · Osler-Vaquez disease

ORPHA:729

Polydactyly of a biphalangeal thumb and/or hallux

PPD1 · Preaxial polydactyly type 1

ORPHA:93339

Polydactyly of a triphalangeal thumb

PPD2 · Preaxial polydactyly type 2

ORPHA:93336

Polydactyly of an index finger

PPD3 · Preaxial polydactyly type 3

ORPHA:93337

Polydactyly-myopia syndrome

Czeizel-Brooser syndrome

ORPHA:2917

Polyembryoma

ORPHA:180229

Polyendocrine-polyneuropathy syndrome

ORPHA:453533

Polyendocrinopathy

ORPHA:101956

Polyglucosan body myopathy type 1

PGBM1

ORPHA:397937

Polyglucosan body myopathy type 2

ORPHA:456369

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

PMSE syndrome

ORPHA:500533

Polymalformative genetic syndrome with increased risk of developing cancer

ORPHA:183422

Polymerase proofreading-related polyposis

Polymerase proofreading-related adenomatous polyposis · PPAP

ORPHA:447877

Polymicrogyria

ORPHA:35981

Polymicrogyria due to TUBB2B mutation

ORPHA:300573

Polymicrogyria with optic nerve hypoplasia

ORPHA:250972

Polymyositis

ORPHA:732

Polyneuropathy associated with IgM monoclonal gammopathy

ORPHA:209004

Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG

Anti-MAG neuropathy · Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein

ORPHA:639

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

ORPHA:171848

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

Lundberg syndrome

ORPHA:2928

Polyostotic fibrous dysplasia

ORPHA:93276

Polyploidy syndrome

ORPHA:96321

Polyrrhinia

Double nose · Polyrhinia

ORPHA:141091

Polysomy of X chromosome syndrome

ORPHA:263723

Polysyndactyly

PPD4 · Preaxial polydactyly type 4

ORPHA:93338

Polysyndactyly-cardiac malformation syndrome

Bonneau syndrome

ORPHA:2934

POMGNT1-related limb-girdle muscular dystrophy R15

LGMD2O · Autosomal recessive limb-girdle muscular dystrophy type 2O

ORPHA:206564

POMGNT2-related limb-girdle muscular dystrophy R24

POMGNT2-related muscular dystrophy · POMGNT2-related LGMD R24

ORPHA:565899

POMT1-related limb-girdle muscular dystrophy R11

Autosomal recessive limb-girdle muscular dystrophy type 2K · POMT1-related LGMD R11

ORPHA:86812

POMT2-related limb-girdle muscular dystrophy R14

LGMD2N · Autosomal recessive limb-girdle muscular dystrophy type 2N

ORPHA:206559

Pontiac fever

Non-pneumonic Legionnaires' disease

ORPHA:99748

Pontine autosomal dominant microangiopathy with leukoencephalopathy

PADMAL

ORPHA:477749

Pontine tegmental cap dysplasia

PTCD

ORPHA:269229