MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

McLeod neuroacanthocytosis syndrome

ORPHA:59306Заболевание
X-linked recessive

Meconium aspiration syndrome

ORPHA:70588Заболевание
Not applicable

Medial condensing osteitis of the clavicle

ORPHA:57196Заболевание
Not applicable

Medich giant platelet syndrome

ORPHA:370127Заболевание

Medium chain acyl-CoA dehydrogenase deficiency

ORPHA:42Заболевание
Autosomal recessive

Medullary thyroid carcinoma

ORPHA:1332Заболевание
Not applicable

Medulloblastoma

ORPHA:616Заболевание
Not applicable

Meesmann corneal dystrophy

ORPHA:98954Заболевание
Autosomal dominant

Megaconial congenital muscular dystrophy

ORPHA:280671Заболевание
Autosomal recessive

Megacystis-megaureter syndrome

ORPHA:238637Заболевание

Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)

ORPHA:402023Заболевание

Megalencephalic leukoencephalopathy with subcortical cysts

ORPHA:2478Заболевание
Autosomal dominant, Autosomal recessive

Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency

ORPHA:661412Заболевание

Meige disease

ORPHA:90186Заболевание
Not applicable

Melanoma and neural system tumor syndrome

ORPHA:252206Заболевание
Autosomal dominant, Unknown

Melanoma of soft tissue

ORPHA:97338Заболевание
Not applicable

Melioidosis

ORPHA:31202Заболевание

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

ORPHA:99898Заболевание
Autosomal recessive

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