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

Postencephalitic parkinsonism

ORPHA:97349Disease

Posterior amorphous corneal dystrophy

ORPHA:98971Disease
Autosomal dominant

Posterior column ataxia-retinitis pigmentosa syndrome

ORPHA:88628Disease
Autosomal recessive

Posterior cortical atrophy

ORPHA:54247Disease
Unknown

Posterior polymorphous corneal dystrophy

ORPHA:98973Disease
Autosomal dominant

Postinfectious cerebellitis

ORPHA:624244Disease

Postinfectious vasculitis

ORPHA:48435Disease
Not applicable

Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome

ORPHA:477673Disease
Autosomal recessive

Postpartum psychosis

ORPHA:443173Disease
Not applicable

Postpoliomyelitis syndrome

ORPHA:2942Disease
Not applicable

Postural orthostatic tachycardia syndrome due to NET deficiency

ORPHA:443236Disease
Autosomal dominant

PrP systemic amyloidosis

ORPHA:397606Disease
Autosomal dominant

Prader-Willi syndrome

ORPHA:739Disease
Autosomal dominant, Not applicable

Pre-Descemet corneal dystrophy

ORPHA:293462Disease
Unknown

Precursor B-cell acute lymphoblastic leukemia

ORPHA:99860Disease
Not applicable

Precursor T-cell acute lymphoblastic leukemia

ORPHA:99861Disease
Not applicable

Predisposition to invasive fungal disease due to CARD9 deficiency

ORPHA:457088Disease
Autosomal recessive

Predisposition to severe viral infection due to IRF7 deficiency

ORPHA:574918Disease
Autosomal recessive

Preeclampsia

ORPHA:275555Disease
Not applicable

Prenatal-onset spinal muscular atrophy with congenital bone fractures

ORPHA:486811Disease
Autosomal recessive

Pressure-induced localized lipoatrophy

ORPHA:90160Disease

Presumed ocular histoplasmosis syndrome

ORPHA:714160Disease
Not applicable

Primary CD59 deficiency

ORPHA:169464Disease
Autosomal recessive

Primary Fanconi renotubular syndrome

ORPHA:3337Disease
Autosomal dominant, Autosomal recessive