MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 3,968 заболеваний (Ауру) Қалпына келтіру

McLeod neuroacanthocytosis syndrome

ORPHA:59306Ауру
X-linked recessive

Meconium aspiration syndrome

ORPHA:70588Ауру
Not applicable

Medial condensing osteitis of the clavicle

ORPHA:57196Ауру
Not applicable

Medich giant platelet syndrome

ORPHA:370127Ауру

Medium chain acyl-CoA dehydrogenase deficiency

ORPHA:42Ауру
Autosomal recessive

Medullary thyroid carcinoma

ORPHA:1332Ауру
Not applicable

Medulloblastoma

ORPHA:616Ауру
Not applicable

Meesmann corneal dystrophy

ORPHA:98954Ауру
Autosomal dominant

Megaconial congenital muscular dystrophy

ORPHA:280671Ауру
Autosomal recessive

Megacystis-megaureter syndrome

ORPHA:238637Ауру

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

ORPHA:402023Ауру

Megalencephalic leukoencephalopathy with subcortical cysts

ORPHA:2478Ауру
Autosomal dominant, Autosomal recessive

Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency

ORPHA:661412Ауру

Meige disease

ORPHA:90186Ауру
Not applicable

Melanoma and neural system tumor syndrome

ORPHA:252206Ауру
Autosomal dominant, Unknown

Melanoma of soft tissue

ORPHA:97338Ауру
Not applicable

Melioidosis

ORPHA:31202Ауру

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

ORPHA:99898Ауру
Autosomal recessive

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