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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Stromal corneal dystrophy

ORPHA:98626Кат.
Autosomal dominant, Autosomal recessive

Stromme syndrome

ORPHA:506307Порок
Autosomal recessive

Strongyloidiasis

ORPHA:76Заболевание
Not applicable

Structural heart defects-renal anomalies syndrome

ORPHA:689822Порок
Autosomal recessive

Sturge-Weber syndrome

ORPHA:3205Порок
Not applicable

Stüve-Wiedemann syndrome

ORPHA:3206Порок
Autosomal recessive

Sub-cortical nodular heterotopia

ORPHA:101029Клин. подт.

Subacute cutaneous lupus erythematosus

ORPHA:163525Заболевание

Subacute inflammatory demyelinating polyneuropathy

ORPHA:206594Заболевание

Subacute sclerosing leukoencephalitis

ORPHA:2806Заболевание
Not applicable

Subaortic stenosis-short stature syndrome

ORPHA:3191Порок

Subcorneal pustular dermatosis

ORPHA:48377Заболевание
Not applicable

Subcortical band heterotopia

ORPHA:99796Морф.
Autosomal recessive, Unknown, X-linked recessive

Subcutaneous panniculitis-like T-cell lymphoma

ORPHA:86884Заболевание
Not applicable

Subependymal nodular heterotopia

ORPHA:101030Клин. подт.

Subependymoma

ORPHA:251639Заболевание

Subepithelial mucinous corneal dystrophy

ORPHA:98959Заболевание
Autosomal dominant

Submucosal cleft palate

ORPHA:155878Морф.

Succinic semialdehyde dehydrogenase deficiency

ORPHA:22Заболевание
Autosomal recessive

Succinyl-CoA:3-oxoacid CoA transferase deficiency

ORPHA:832Заболевание
Autosomal recessive

Sudden infant death-dysgenesis of the testes syndrome

ORPHA:168593Порок
Autosomal recessive

Sudden sensorineural hearing loss

ORPHA:90059Ситуация
Not applicable

Sugarman brachydactyly

ORPHA:498602Морф.

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

ORPHA:308386Этиол. подт.
Autosomal recessive