MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Stromal corneal dystrophy

ORPHA:98626Сан.
Autosomal dominant, Autosomal recessive

Stromme syndrome

ORPHA:506307Мальф.
Autosomal recessive

Strongyloidiasis

ORPHA:76Ауру
Not applicable

Structural heart defects-renal anomalies syndrome

ORPHA:689822Мальф.
Autosomal recessive

Sturge-Weber syndrome

ORPHA:3205Мальф.
Not applicable

Stüve-Wiedemann syndrome

ORPHA:3206Мальф.
Autosomal recessive

Sub-cortical nodular heterotopia

ORPHA:101029Клин. под.

Subacute cutaneous lupus erythematosus

ORPHA:163525Ауру

Subacute inflammatory demyelinating polyneuropathy

ORPHA:206594Ауру

Subacute sclerosing leukoencephalitis

ORPHA:2806Ауру
Not applicable

Subaortic stenosis-short stature syndrome

ORPHA:3191Мальф.

Subcorneal pustular dermatosis

ORPHA:48377Ауру
Not applicable

Subcortical band heterotopia

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

Subcutaneous panniculitis-like T-cell lymphoma

ORPHA:86884Ауру
Not applicable

Subependymal nodular heterotopia

ORPHA:101030Клин. под.

Subependymoma

ORPHA:251639Ауру

Subepithelial mucinous corneal dystrophy

ORPHA:98959Ауру
Autosomal dominant

Submucosal cleft palate

ORPHA:155878Морф.

Succinic semialdehyde dehydrogenase deficiency

ORPHA:22Ауру
Autosomal recessive

Succinyl-CoA:3-oxoacid CoA transferase deficiency

ORPHA:832Ауру
Autosomal recessive

Sudden infant death-dysgenesis of the testes syndrome

ORPHA:168593Мальф.
Autosomal recessive

Sudden sensorineural hearing loss

ORPHA:90059Жағдай
Not applicable

Sugarman brachydactyly

ORPHA:498602Морф.

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

ORPHA:308386Этио. под.
Autosomal recessive