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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
8q24.3 microdeletion syndrome
Not applicable
Antenatal, Neonatal
9p13 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
9p23p22.2 microdeletion syndrome
9q21.13 microdeletion syndrome
Not applicable
Childhood, Infancy
9q31.1q31.3 microdeletion syndrome
Unknown
Neonatal
9q33.3q34.11 microdeletion syndrome
Not applicable
Childhood, Infancy
AA amyloidosis
Not applicable
Adolescent, Adult, Childhood
AApoAI amyloidosis
Autosomal dominant
AApoAII amyloidosis
Autosomal dominant
AApoAIV amyloidosis
Not applicable
Adult
ABeta amyloidosis, Arctic type
Autosomal dominant
Adult, Elderly
ABeta amyloidosis, Dutch type
Autosomal dominant
Adult
ABeta amyloidosis, Iowa type
Autosomal dominant
Elderly
ABeta amyloidosis, Italian type
Autosomal dominant
Adult, Elderly
ABeta2M amyloidosis
Adult
ABetaA21G amyloidosis
Autosomal dominant
Adult
ABetaL34V amyloidosis
Autosomal dominant
Adult, Elderly
ABri amyloidosis
Autosomal dominant
Adult
ACTH-dependent Cushing syndrome
ACys amyloidosis
Autosomal dominant
Adolescent, Adult
ADAR-related hereditary spastic paraplegia
Autosomal dominant
ADULT syndrome
Autosomal dominant
Antenatal, Neonatal
ADan amyloidosis
Autosomal dominant
AFib amyloidosis
Autosomal dominant