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

Pancreatic insufficiency-anemia-hyperostosis syndrome

ORPHA:199337

Pancreatic solid pseudopapillary neoplasm

SPN · Frantz tumor

ORPHA:424065

Pancreatic triacylglycerol lipase deficiency

Pancreatic triglyceride lipase deficiency

ORPHA:309031

Pancreatoblastoma

ORPHA:677

Pancytopenia-developmental delay syndrome

Trilineage bone marrow failure-developmental delay syndrome

ORPHA:401764

PANDAS

Pediatric autoimmune disorders associated with Streptococcus infections · Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections

ORPHA:66624

Panhypophysitis

Infundibulo-panhypophysitis

ORPHA:95513

Panner disease

Aseptic necrosis of the capital humerus · Osteochondrosis of the capital humerus

ORPHA:97336

Panniculitis-induced localized lipodystrophy

ORPHA:90159

Pantothenate kinase-associated neurodegeneration

Hallervorden-Spatz syndrome · NBIA1

ORPHA:157850

Panuveitis

Total uveitis

ORPHA:280898

PAPA syndrome

FRA · Familial recurrent arthritis

ORPHA:69126

PAPASH syndrome

Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome

ORPHA:641380

Papillary glioneuronal tumor

PGNT · Pseudopapillary ganglioglioneurocytoma

ORPHA:251962

Papillary hemangioma

Papillary capillary hemangioma

ORPHA:673543

Papillary intralymphatic angioendothelioma

PILA · Primary intralymphatic angioendothelioma

ORPHA:458768

Papillary renal cell carcinoma

Kidney cancer · Papillary renal cell adenocarcinoma

ORPHA:319298

Papillary tumor of the pineal region

PTPR

ORPHA:251915

Papilloma of choroid plexus

Choroid plexus papilloma · CPP

ORPHA:2807

Papillon-Lefèvre syndrome

Keratosis palmoplantar-periodontopathy syndrome · PLS

ORPHA:678

Papular elastorrhexis

ORPHA:228264

Papular mucinosis of infancy

Cutaneous mucinosis of infancy

ORPHA:90395

Papular xanthoma

ORPHA:158008

Paracetamol poisoning

Acetaminophen poisoning

ORPHA:464458

Parachute tricuspid valve

ORPHA:99056

Paracoccidioidomycosis

ORPHA:73260

Paragonimiasis

ORPHA:658913

Paralytic facial malformation

ORPHA:156224

Paramedian facial cleft

Tessier number 1-1 and 2-12 facial cleft

ORPHA:155867

Paramedian nasal cleft

Isolated cleft of the ala nasi · Alar cleft

ORPHA:141242

Paramyotonia congenita of Von Eulenburg

Paramyotonia congenita

ORPHA:684

Parana hard skin syndrome

Hard skin syndrome, Parana type

ORPHA:2812

Paraneoplastic cerebellar degeneration

PCD · Subacute cerebellar degeneration

ORPHA:623626

Paraneoplastic isolated brainstem encephalitis

Paraneoplastic isolated rhombencephalitis · Paraneoplastic isolated rhomboencephalitis

ORPHA:624190

Paraneoplastic neurologic syndrome

PNS

ORPHA:36388

Paraneoplastic pemphigus

ORPHA:63455

Paraneoplastic sensory ganglionopathy

Paraneoplastic sensory neuronopathy

ORPHA:208999

Paraneoplastic uveitis

ORPHA:279928

Paraparetic variant of Guillain-Barré syndrome

Paraparetic variant of GBS

ORPHA:231445

Paraplegia-intellectual disability-hyperkeratosis syndrome

Fitzsimmons-McLachlan-Gilbert syndrome

ORPHA:2824

Paraquat poisoning

ORPHA:31827

Parasitic myositis

ORPHA:206997

Parastremmatic dysplasia

Parastremmatic dwarfism

ORPHA:2646

Paratesticular adenocarcinoma

Adenocarcinoma of the paratestis

ORPHA:363478

Parathyroid carcinoma

ORPHA:143

Paratyphoid fever

ORPHA:443227

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

ORPHA:2825

Parenteral nutrition-associated cholestasis

PNAC

ORPHA:567983