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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency

ORPHA:319547Заболевание
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

ORPHA:319558Заболевание
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

ORPHA:319552Заболевание
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

ORPHA:319563Заболевание
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

ORPHA:477857Заболевание
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

ORPHA:319600Заболевание
Autosomal dominant

Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency

ORPHA:574957Заболевание
Autosomal recessive

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

ORPHA:319595Заболевание
Autosomal dominant

Meningioma

ORPHA:2495Заболевание
Not applicable

Meningococcal meningitis

ORPHA:33475Заболевание
Not applicable

Menke-Hennekam syndrome

ORPHA:592574Порок
Autosomal dominant

Menkes disease

ORPHA:565Заболевание
X-linked recessive

Menstrual cycle-dependent periodic fever

ORPHA:498251Заболевание

Mercury poisoning

ORPHA:330021Заболевание
Not applicable

Mesial temporal lobe epilepsy with hippocampal sclerosis

ORPHA:99701Заболевание

Mesoaxial synostotic syndactyly with phalangeal reduction

ORPHA:157801Морф.
Autosomal recessive

Mesomelia-synostoses syndrome

ORPHA:2496Порок
Autosomal dominant

Mesomelic dwarfism, Reinhardt-Pfeiffer type

ORPHA:2634Порок
Autosomal dominant

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

ORPHA:2631Порок
Autosomal recessive

Mesomelic dysplasia, Kantaputra type

ORPHA:1836Порок
Autosomal dominant

Mesomelic dysplasia, Nievergelt type

ORPHA:2633Порок
Autosomal dominant

Mesomelic dysplasia, Savarirayan type

ORPHA:85170Порок
Not applicable

Mesomelic dysplasia-digital anomalies-intellectual disability syndrome

ORPHA:632603Порок

Mesothelioma of the tunica vaginalis

ORPHA:685010Заболевание