MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
727 diseases matched (Clin. sub.) Reset

Primary localized amyloidosis

ORPHA:314709Clin. sub.
Not applicable

Primary megaureter, adult-onset form

ORPHA:238642Clin. sub.
Unknown

Primary plasmacytoma of the bone

ORPHA:100021Clin. sub.

Primary polyarteritis nodosa

ORPHA:439737Clin. sub.
Not applicable

Primary systemic amyloidosis

ORPHA:314701Clin. sub.
Not applicable

Progeroid syndrome, Petty type

ORPHA:2963Clin. sub.
Autosomal dominant

Progressive dementia with neuroserpin inclusion bodies

ORPHA:530303Clin. sub.
Autosomal dominant

Progressive encephalomyelitis with rigidity and myoclonus

ORPHA:438266Clin. sub.
Not applicable

Progressive familial intrahepatic cholestasis type 1

ORPHA:79306Clin. sub.
Autosomal recessive

Progressive familial intrahepatic cholestasis type 2

ORPHA:79304Clin. sub.
Autosomal recessive

Progressive familial intrahepatic cholestasis type 3

ORPHA:79305Clin. sub.
Autosomal recessive

Progressive familial intrahepatic cholestasis type 4

ORPHA:480483Clin. sub.
Autosomal recessive

Progressive familial intrahepatic cholestasis type 5

ORPHA:480476Clin. sub.
Autosomal recessive

Progressive myoclonic epilepsy with neuroserpin inclusion bodies

ORPHA:530298Clin. sub.

Progressive supranuclear palsy-corticobasal syndrome

ORPHA:240103Clin. sub.
Not applicable

Progressive supranuclear palsy-predominant parkinsonism syndrome

ORPHA:240085Clin. sub.
Not applicable

Progressive supranuclear palsy-progressive non-fluent aphasia syndrome

ORPHA:240112Clin. sub.
Not applicable

Progressive supranuclear palsy-pure akinesia with gait freezing syndrome

ORPHA:240094Clin. sub.
Not applicable

Proteus-like syndrome

ORPHA:2969Clin. sub.
Autosomal dominant

Protracted juvenile CLN3 disease

ORPHA:699796Clin. sub.
Autosomal recessive

Proximal spinal muscular atrophy type 1

ORPHA:83330Clin. sub.
Autosomal recessive

Proximal spinal muscular atrophy type 2

ORPHA:83418Clin. sub.
Autosomal recessive

Proximal spinal muscular atrophy type 3

ORPHA:83419Clin. sub.
Autosomal recessive

Proximal spinal muscular atrophy type 4

ORPHA:83420Clin. sub.
Autosomal recessive