MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Postorgasmic illness syndrome

ORPHA:279947Clinical syndrome
Not applicable

Postpartum psychosis

ORPHA:443173Kr.
Not applicable

Postpoliomyelitis syndrome

ORPHA:2942Kr.
Not applicable

Postsynaptic congenital myasthenic syndrome

ORPHA:98913Ätl. subt.
Autosomal recessive

Posttransplant acute limbic encephalitis

ORPHA:163921spez. Sit.

Postural orthostatic tachycardia syndrome due to NET deficiency

ORPHA:443236Kr.
Autosomal dominant

Potassium-aggravated myotonia

ORPHA:612Kl. gruppe
Autosomal dominant

Potocki-Shaffer syndrome

ORPHA:52022Malf.
Unknown

Pouchitis

ORPHA:217067spez. Sit.
Not applicable

PrP systemic amyloidosis

ORPHA:397606Kr.
Autosomal dominant

Prader-Willi syndrome

ORPHA:739Kr.
Autosomal dominant, Not applicable

Prader-Willi syndrome due to imprinting mutation

ORPHA:177910Ätl. subt.
Not applicable

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

ORPHA:98754Ätl. subt.
Not applicable

Prader-Willi syndrome due to paternal 15q11q13 deletion

ORPHA:98793Ätl. subt.
Autosomal dominant

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

ORPHA:177901Ätl. subt.
Autosomal dominant

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

ORPHA:177904Ätl. subt.
Autosomal dominant

Prader-Willi syndrome due to translocation

ORPHA:177907Ätl. subt.
Not applicable

Prader-Willi-like syndrome

ORPHA:398073Kl. gruppe

Pre-Descemet corneal dystrophy

ORPHA:293462Kr.
Unknown

Preaxial polydactyly-colobomata-intellectual disability syndrome

ORPHA:2921Malf.
Autosomal recessive

Precursor B-cell acute lymphoblastic leukemia

ORPHA:99860Kr.
Not applicable

Precursor T-cell acute lymphoblastic leukemia

ORPHA:99861Kr.
Not applicable

Predisposition to invasive fungal disease due to CARD9 deficiency

ORPHA:457088Kr.
Autosomal recessive

Predisposition to severe viral infection due to IRF7 deficiency

ORPHA:574918Kr.
Autosomal recessive