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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Small cell lung cancer

ORPHA:70573Disease
Not applicable

Smith-McCort dysplasia

ORPHA:178355Disease
Autosomal recessive

Smoldering systemic mastocytosis

ORPHA:158775Disease
Autosomal dominant, Unknown

Snakebite envenomation

ORPHA:449285Disease
Not applicable

Sneddon syndrome

ORPHA:820Disease
Autosomal dominant, Not applicable

Snowflake vitreoretinal degeneration

ORPHA:91496Disease
Autosomal dominant

Solar urticaria

ORPHA:97230Disease
Not applicable

Solitary bone cyst

ORPHA:83468Disease
Not applicable

Solitary fibrous tumor

ORPHA:2126Disease
Not applicable

Solitary rectal ulcer syndrome

ORPHA:209964Disease
Not applicable

Somatomammotropinoma

ORPHA:314769Disease

Somatostatinoma

ORPHA:97283Disease
Unknown

Sorsby fundus dystrophy

ORPHA:59181Disease
Autosomal dominant

Sotos syndrome

ORPHA:821Disease
Autosomal dominant, Autosomal recessive

Southeast Asian ovalocytosis

ORPHA:98868Disease
Autosomal dominant

Spastic ataxia with congenital miosis

ORPHA:1182Disease
Autosomal dominant

Spastic ataxia-corneal dystrophy syndrome

ORPHA:2572Disease
Autosomal recessive

Spastic ataxia-dysarthria due to glutaminase deficiency

ORPHA:557056Disease
Autosomal dominant

Spastic paraplegia type 2

ORPHA:99015Disease
X-linked recessive

Spastic paraplegia type 7

ORPHA:99013Disease
Autosomal dominant, Autosomal recessive

Spastic paraplegia-Paget disease of bone syndrome

ORPHA:329475Disease
Autosomal dominant

Spastic paraplegia-glaucoma-intellectual disability syndrome

ORPHA:2818Disease
Autosomal recessive

Spastic paraplegia-neuropathy-poikiloderma syndrome

ORPHA:2821Disease

Spastic paraplegia-optic atrophy-neuropathy syndrome

ORPHA:320406Disease
Autosomal recessive