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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
Laryngotracheoesophageal cleft type 2
Infancy, Neonatal
Laryngotracheoesophageal cleft type 3
Infancy, Neonatal
Laryngotracheoesophageal cleft type 4
Infancy, Neonatal
Larynx atresia
Autosomal dominant
All ages
Lassa fever
All ages
Late infantile CACH syndrome
Autosomal recessive
Childhood
Late infantile CLN1 disease
Autosomal recessive
Late infantile CLN10 disease
Autosomal recessive
Late infantile CLN2 disease
Autosomal recessive
Late infantile CLN5 disease
Late infantile CLN6 disease
Autosomal recessive
Late infantile CLN8 disease
Autosomal recessive
Late-infantile/juvenile Krabbe disease
Autosomal recessive
Adolescent, Childhood, Infancy
Late-onset Steinert myotonic dystrophy
Autosomal dominant
Elderly
Late-onset citrullinemia type I
Autosomal recessive
Adult
Late-onset combined immunodeficiency due to ICOS deficiency
Autosomal recessive
Late-onset combined immunodeficiency due to ICOSL deficiency
Late-onset distal myopathy, Markesbery-Griggs type
Autosomal dominant
Adult
Late-onset familial hypoaldosteronism
Adult, Elderly
Late-onset focal dermal elastosis
Not applicable
Adult
Late-onset idiopathic chronic pancreatitis
Not applicable
Late-onset isolated ACTH deficiency
Not applicable
Adult
Late-onset junctional epidermolysis bullosa
Autosomal recessive
Adolescent, Adult, Childhood
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Unknown
Childhood