MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
727 Erkrankungen gefunden (Kl. subt.) Zurücksetzen

Primary localized amyloidosis

ORPHA:314709Kl. subt.
Not applicable

Primary megaureter, adult-onset form

ORPHA:238642Kl. subt.
Unknown

Primary plasmacytoma of the bone

ORPHA:100021Kl. subt.

Primary polyarteritis nodosa

ORPHA:439737Kl. subt.
Not applicable

Primary systemic amyloidosis

ORPHA:314701Kl. subt.
Not applicable

Progeroid syndrome, Petty type

ORPHA:2963Kl. subt.
Autosomal dominant

Progressive dementia with neuroserpin inclusion bodies

ORPHA:530303Kl. subt.
Autosomal dominant

Progressive encephalomyelitis with rigidity and myoclonus

ORPHA:438266Kl. subt.
Not applicable

Progressive familial intrahepatic cholestasis type 1

ORPHA:79306Kl. subt.
Autosomal recessive

Progressive familial intrahepatic cholestasis type 2

ORPHA:79304Kl. subt.
Autosomal recessive

Progressive familial intrahepatic cholestasis type 3

ORPHA:79305Kl. subt.
Autosomal recessive

Progressive familial intrahepatic cholestasis type 4

ORPHA:480483Kl. subt.
Autosomal recessive

Progressive familial intrahepatic cholestasis type 5

ORPHA:480476Kl. subt.
Autosomal recessive

Progressive myoclonic epilepsy with neuroserpin inclusion bodies

ORPHA:530298Kl. subt.

Progressive supranuclear palsy-corticobasal syndrome

ORPHA:240103Kl. subt.
Not applicable

Progressive supranuclear palsy-predominant parkinsonism syndrome

ORPHA:240085Kl. subt.
Not applicable

Progressive supranuclear palsy-progressive non-fluent aphasia syndrome

ORPHA:240112Kl. subt.
Not applicable

Progressive supranuclear palsy-pure akinesia with gait freezing syndrome

ORPHA:240094Kl. subt.
Not applicable

Proteus-like syndrome

ORPHA:2969Kl. subt.
Autosomal dominant

Protracted juvenile CLN3 disease

ORPHA:699796Kl. subt.
Autosomal recessive

Proximal spinal muscular atrophy type 1

ORPHA:83330Kl. subt.
Autosomal recessive

Proximal spinal muscular atrophy type 2

ORPHA:83418Kl. subt.
Autosomal recessive

Proximal spinal muscular atrophy type 3

ORPHA:83419Kl. subt.
Autosomal recessive

Proximal spinal muscular atrophy type 4

ORPHA:83420Kl. subt.
Autosomal recessive