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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 3,968 заболеваний (Disease) Сброс

Subcorneal pustular dermatosis

ORPHA:48377Disease
Not applicable

Subcutaneous panniculitis-like T-cell lymphoma

ORPHA:86884Disease
Not applicable

Subependymoma

ORPHA:251639Disease

Subepithelial mucinous corneal dystrophy

ORPHA:98959Disease
Autosomal dominant

Succinic semialdehyde dehydrogenase deficiency

ORPHA:22Disease
Autosomal recessive

Succinyl-CoA:3-oxoacid CoA transferase deficiency

ORPHA:832Disease
Autosomal recessive

Superficial epidermolytic ichthyosis

ORPHA:455Disease
Autosomal dominant

Superficial siderosis

ORPHA:247245Disease
Not applicable

Susac syndrome

ORPHA:838Disease
Unknown

Susceptibility to infection due to TYK2 deficiency

ORPHA:331226Disease
Autosomal recessive

Susceptibility to respiratory infections associated with CD8alpha chain mutation

ORPHA:169085Disease
Autosomal recessive

Susceptibility to viral and mycobacterial infections due to STAT1 deficiency

ORPHA:391311Disease
Autosomal recessive

Sweet syndrome

ORPHA:3243Disease
Multigenic/multifactorial

Symmetrical thalamic calcifications

ORPHA:1314Disease
Not applicable

Sympathetic ophthalmia

ORPHA:79098Disease
Not applicable

Symptomatic form of HFE-related hemochromatosis

ORPHA:465508Disease
Autosomal recessive

Symptomatic form of X-linked centronuclear myopathy in female carriers

ORPHA:604680Disease

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

ORPHA:206546Disease
X-linked recessive

Syndromic autoimmune enteropathy due to LRBA deficiency

ORPHA:445018Disease
Autosomal recessive

Syndromic congenital sodium diarrhea

ORPHA:563708Disease
Autosomal recessive

Syndromic multisystem autoimmune disease due to Itch deficiency

ORPHA:228426Disease
Autosomal recessive

Syndromic recessive X-linked ichthyosis

ORPHA:281090Disease
X-linked recessive

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

ORPHA:457223Disease
Autosomal recessive

Synovial sarcoma

ORPHA:3273Disease
Not applicable