MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Subcorneal pustular dermatosis

ORPHA:48377Заболевание
Not applicable

Subcutaneous panniculitis-like T-cell lymphoma

ORPHA:86884Заболевание
Not applicable

Subependymoma

ORPHA:251639Заболевание

Subepithelial mucinous corneal dystrophy

ORPHA:98959Заболевание
Autosomal dominant

Succinic semialdehyde dehydrogenase deficiency

ORPHA:22Заболевание
Autosomal recessive

Succinyl-CoA:3-oxoacid CoA transferase deficiency

ORPHA:832Заболевание
Autosomal recessive

Superficial epidermolytic ichthyosis

ORPHA:455Заболевание
Autosomal dominant

Superficial siderosis

ORPHA:247245Заболевание
Not applicable

Susac syndrome

ORPHA:838Заболевание
Unknown

Susceptibility to infection due to TYK2 deficiency

ORPHA:331226Заболевание
Autosomal recessive

Susceptibility to respiratory infections associated with CD8alpha chain mutation

ORPHA:169085Заболевание
Autosomal recessive

Susceptibility to viral and mycobacterial infections due to STAT1 deficiency

ORPHA:391311Заболевание
Autosomal recessive

Sweet syndrome

ORPHA:3243Заболевание
Multigenic/multifactorial

Symmetrical thalamic calcifications

ORPHA:1314Заболевание
Not applicable

Sympathetic ophthalmia

ORPHA:79098Заболевание
Not applicable

Symptomatic form of HFE-related hemochromatosis

ORPHA:465508Заболевание
Autosomal recessive

Symptomatic form of X-linked centronuclear myopathy in female carriers

ORPHA:604680Заболевание

Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

ORPHA:206546Заболевание
X-linked recessive

Syndromic autoimmune enteropathy due to LRBA deficiency

ORPHA:445018Заболевание
Autosomal recessive

Syndromic congenital sodium diarrhea

ORPHA:563708Заболевание
Autosomal recessive

Syndromic multisystem autoimmune disease due to Itch deficiency

ORPHA:228426Заболевание
Autosomal recessive

Syndromic recessive X-linked ichthyosis

ORPHA:281090Заболевание
X-linked recessive

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

ORPHA:457223Заболевание
Autosomal recessive

Synovial sarcoma

ORPHA:3273Заболевание
Not applicable