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Сирек (орфандық) аурулар
7,547 аурудың толық базасы: генетика, фенотиптер, эпидемиология, препараттар және зерттеулер.
7,547
Аурулар
4 552
Гендер
8 700
Фенотиптер
140
Аймақтар
Все (7,547)Био аномалияСанатКлиникалық топКлиникалық подтипClinical syndromeАуруЭтиологиялық подтипГистопатологиялық подтипМальформацияМорфологиялық аномалияКлиникалық жағдай
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