MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 727 заболеваний (Clin. sub.) Сброс

Shiga toxin-associated hemolytic uremic syndrome

ORPHA:90038Clin. sub.
Not applicable

Short stature due to growth hormone qualitative anomaly

ORPHA:629Clin. sub.
Autosomal recessive

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

ORPHA:632Clin. sub.
X-linked recessive

Sickle cell S-D Punjab disease

ORPHA:251370Clin. sub.
Autosomal recessive

Sickle cell S-E disease

ORPHA:251375Clin. sub.
Autosomal recessive

Sickle cell S-Lepore disease

ORPHA:699822Clin. sub.

Sickle cell S-O Arab disease

ORPHA:700090Clin. sub.

Sickle cell S-other specified hemoglobin variant

ORPHA:700107Clin. sub.

Single-organ polyarteritis nodosa

ORPHA:439755Clin. sub.
Not applicable

Single-system multifocal Langerhans cell histiocytosis

ORPHA:687738Clin. sub.
Not applicable

Sporadic porphyria cutanea tarda

ORPHA:443057Clin. sub.
Multigenic/multifactorial

Stevens-Johnson syndrome

ORPHA:36426Clin. sub.
Not applicable

Stickler syndrome type 1

ORPHA:90653Clin. sub.
Autosomal dominant

Stickler syndrome type 2

ORPHA:90654Clin. sub.
Autosomal dominant

Streptococcus pneumoniae-associated hemolytic uremic syndrome

ORPHA:544493Clin. sub.

Sub-cortical nodular heterotopia

ORPHA:101029Clin. sub.

Subependymal nodular heterotopia

ORPHA:101030Clin. sub.

Synpolydactyly type 1

ORPHA:295195Clin. sub.
Autosomal dominant

Synpolydactyly type 2

ORPHA:295197Clin. sub.
Autosomal dominant

Systemic polyarteritis nodosa

ORPHA:439762Clin. sub.
Not applicable

Tay-Sachs disease, adult form

ORPHA:309192Clin. sub.
Autosomal recessive

Tay-Sachs disease, infantile form

ORPHA:309178Clin. sub.
Autosomal recessive

Tay-Sachs disease, juvenile form

ORPHA:309185Clin. sub.
Autosomal recessive

Telangiectasia macularis eruptiva perstans

ORPHA:90389Clin. sub.
Unknown