MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Paratyphoid fever

ORPHA:443227Disease
Not applicable

Paris-Trousseau thrombocytopenia

ORPHA:851Disease

Parkes Weber syndrome

ORPHA:90307Disease
Autosomal dominant, Not applicable

Parkinson-dementia complex of Guam

ORPHA:90020Disease

Parkinsonian-pyramidal syndrome

ORPHA:171695Disease
Autosomal recessive

Parkinsonism with polyneuropathy

ORPHA:611237Disease

Paroxysmal cold hemoglobinuria

ORPHA:90035Disease
Multigenic/multifactorial

Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

ORPHA:53583Disease
Autosomal dominant

Paroxysmal exertion-induced dyskinesia

ORPHA:98811Disease
Autosomal dominant, Not applicable

Paroxysmal extreme pain disorder

ORPHA:46348Disease
Autosomal dominant

Paroxysmal hemicrania

ORPHA:157835Disease
Not applicable

Paroxysmal kinesigenic dyskinesia

ORPHA:98809Disease
Autosomal dominant, Not applicable

Paroxysmal nocturnal hemoglobinuria

ORPHA:447Disease
Not applicable

Paroxysmal non-kinesigenic dyskinesia

ORPHA:98810Disease
Autosomal dominant, Not applicable

Partial androgen insensitivity syndrome

ORPHA:90797Disease
X-linked recessive

Partially involuting congenital hemangioma

ORPHA:458785Disease
Not applicable

Pauci-immune glomerulonephritis

ORPHA:93126Disease
Not applicable

Pearson syndrome

ORPHA:699Disease
Mitochondrial inheritance, Not applicable

Pediatric acute respiratory distress syndrome

ORPHA:685082Disease

Pediatric collagenous gastritis

ORPHA:487809Disease

Pediatric hepatocellular carcinoma

ORPHA:33402Disease
Not applicable

Pediatric multiple sclerosis

ORPHA:477738Disease

Pediatric systemic lupus erythematosus

ORPHA:93552Disease
Not applicable

Pediatric-onset Graves disease

ORPHA:525731Disease