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Редкие (орфанные) заболевания
Полная база 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, препаратами и исследованиями.
7,547
Заболевания
4 552
Гены
8 700
Фенотипы
140
Регионы
Все (7,547)Bio anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformationMorphological anomalyClinical situation
Shiga toxin-associated hemolytic uremic syndrome
Not applicable
All ages
Short stature due to growth hormone qualitative anomaly
Autosomal recessive
Infancy, Neonatal
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked recessive
Infancy, Neonatal
Sickle cell S-D Punjab disease
Autosomal recessive
All ages
Sickle cell S-E disease
Autosomal recessive
All ages
Sickle cell S-Lepore disease
Sickle cell S-O Arab disease
Sickle cell S-other specified hemoglobin variant
Single-organ polyarteritis nodosa
Not applicable
Single-system multifocal Langerhans cell histiocytosis
Not applicable
Sporadic porphyria cutanea tarda
Multigenic/multifactorial
Stevens-Johnson syndrome
Not applicable
All ages
Stickler syndrome type 1
Autosomal dominant
Childhood, Infancy, Neonatal
Stickler syndrome type 2
Autosomal dominant
Childhood, Infancy, Neonatal
Streptococcus pneumoniae-associated hemolytic uremic syndrome
All ages
Sub-cortical nodular heterotopia
Antenatal, Infancy, Neonatal
Subependymal nodular heterotopia
Antenatal, Infancy, Neonatal
Synpolydactyly type 1
Autosomal dominant
Synpolydactyly type 2
Autosomal dominant
Systemic polyarteritis nodosa
Not applicable
Tay-Sachs disease, adult form
Autosomal recessive
Tay-Sachs disease, infantile form
Autosomal recessive
Tay-Sachs disease, juvenile form
Autosomal recessive
Telangiectasia macularis eruptiva perstans
Unknown