MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Postorgasmic illness syndrome

ORPHA:279947Clinical syndrome
Not applicable

Postpartum psychosis

ORPHA:443173Disease
Not applicable

Postpoliomyelitis syndrome

ORPHA:2942Disease
Not applicable

Postsynaptic congenital myasthenic syndrome

ORPHA:98913Etio. sub.
Autosomal recessive

Posttransplant acute limbic encephalitis

ORPHA:163921Situation

Postural orthostatic tachycardia syndrome due to NET deficiency

ORPHA:443236Disease
Autosomal dominant

Potassium-aggravated myotonia

ORPHA:612Clin. grp.
Autosomal dominant

Potocki-Shaffer syndrome

ORPHA:52022Malform.
Unknown

Pouchitis

ORPHA:217067Situation
Not applicable

PrP systemic amyloidosis

ORPHA:397606Disease
Autosomal dominant

Prader-Willi syndrome

ORPHA:739Disease
Autosomal dominant, Not applicable

Prader-Willi syndrome due to imprinting mutation

ORPHA:177910Etio. sub.
Not applicable

Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15

ORPHA:98754Etio. sub.
Not applicable

Prader-Willi syndrome due to paternal 15q11q13 deletion

ORPHA:98793Etio. sub.
Autosomal dominant

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1

ORPHA:177901Etio. sub.
Autosomal dominant

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2

ORPHA:177904Etio. sub.
Autosomal dominant

Prader-Willi syndrome due to translocation

ORPHA:177907Etio. sub.
Not applicable

Prader-Willi-like syndrome

ORPHA:398073Clin. grp.

Pre-Descemet corneal dystrophy

ORPHA:293462Disease
Unknown

Preaxial polydactyly-colobomata-intellectual disability syndrome

ORPHA:2921Malform.
Autosomal recessive

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