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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 727 заболеваний (Клин. подт.) Сброс

Primary localized amyloidosis

ORPHA:314709Клин. подт.
Not applicable

Primary megaureter, adult-onset form

ORPHA:238642Клин. подт.
Unknown

Primary plasmacytoma of the bone

ORPHA:100021Клин. подт.

Primary polyarteritis nodosa

ORPHA:439737Клин. подт.
Not applicable

Primary systemic amyloidosis

ORPHA:314701Клин. подт.
Not applicable

Progeroid syndrome, Petty type

ORPHA:2963Клин. подт.
Autosomal dominant

Progressive dementia with neuroserpin inclusion bodies

ORPHA:530303Клин. подт.
Autosomal dominant

Progressive encephalomyelitis with rigidity and myoclonus

ORPHA:438266Клин. подт.
Not applicable

Progressive familial intrahepatic cholestasis type 1

ORPHA:79306Клин. подт.
Autosomal recessive

Progressive familial intrahepatic cholestasis type 2

ORPHA:79304Клин. подт.
Autosomal recessive

Progressive familial intrahepatic cholestasis type 3

ORPHA:79305Клин. подт.
Autosomal recessive

Progressive familial intrahepatic cholestasis type 4

ORPHA:480483Клин. подт.
Autosomal recessive

Progressive familial intrahepatic cholestasis type 5

ORPHA:480476Клин. подт.
Autosomal recessive

Progressive myoclonic epilepsy with neuroserpin inclusion bodies

ORPHA:530298Клин. подт.

Progressive supranuclear palsy-corticobasal syndrome

ORPHA:240103Клин. подт.
Not applicable

Progressive supranuclear palsy-predominant parkinsonism syndrome

ORPHA:240085Клин. подт.
Not applicable

Progressive supranuclear palsy-progressive non-fluent aphasia syndrome

ORPHA:240112Клин. подт.
Not applicable

Progressive supranuclear palsy-pure akinesia with gait freezing syndrome

ORPHA:240094Клин. подт.
Not applicable

Proteus-like syndrome

ORPHA:2969Клин. подт.
Autosomal dominant

Protracted juvenile CLN3 disease

ORPHA:699796Клин. подт.
Autosomal recessive

Proximal spinal muscular atrophy type 1

ORPHA:83330Клин. подт.
Autosomal recessive

Proximal spinal muscular atrophy type 2

ORPHA:83418Клин. подт.
Autosomal recessive

Proximal spinal muscular atrophy type 3

ORPHA:83419Клин. подт.
Autosomal recessive

Proximal spinal muscular atrophy type 4

ORPHA:83420Клин. подт.
Autosomal recessive