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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

ORPHA:319547Ауру
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

ORPHA:319558Ауру
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

ORPHA:319552Ауру
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

ORPHA:319563Ауру
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

ORPHA:477857Ауру
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

ORPHA:319600Ауру
Autosomal dominant

Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency

ORPHA:574957Ауру
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

ORPHA:319595Ауру
Autosomal dominant

Meningioma

ORPHA:2495Ауру
Not applicable

Meningococcal meningitis

ORPHA:33475Ауру
Not applicable

Menke-Hennekam syndrome

ORPHA:592574Мальф.
Autosomal dominant

Menkes disease

ORPHA:565Ауру
X-linked recessive

Menstrual cycle-dependent periodic fever

ORPHA:498251Ауру

Mercury poisoning

ORPHA:330021Ауру
Not applicable

Mesial temporal lobe epilepsy with hippocampal sclerosis

ORPHA:99701Ауру

Mesoaxial synostotic syndactyly with phalangeal reduction

ORPHA:157801Морф.
Autosomal recessive

Mesomelia-synostoses syndrome

ORPHA:2496Мальф.
Autosomal dominant

Mesomelic dwarfism, Reinhardt-Pfeiffer type

ORPHA:2634Мальф.
Autosomal dominant

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

ORPHA:2631Мальф.
Autosomal recessive

Mesomelic dysplasia, Kantaputra type

ORPHA:1836Мальф.
Autosomal dominant

Mesomelic dysplasia, Nievergelt type

ORPHA:2633Мальф.
Autosomal dominant

Mesomelic dysplasia, Savarirayan type

ORPHA:85170Мальф.
Not applicable

Mesomelic dysplasia-digital anomalies-intellectual disability syndrome

ORPHA:632603Мальф.

Mesothelioma of the tunica vaginalis

ORPHA:685010Ауру