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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Medulloblastoma with extensive nodularity

ORPHA:251858Гист. под.
Not applicable

Meesmann corneal dystrophy

ORPHA:98954Ауру
Autosomal dominant

Megaconial congenital muscular dystrophy

ORPHA:280671Ауру
Autosomal recessive

Megacystis-megaureter syndrome

ORPHA:238637Ауру

Megacystis-microcolon-intestinal hypoperistalsis syndrome

ORPHA:2241Мальф.
Autosomal dominant, Autosomal recessive

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

ORPHA:402023Ауру

Megalencephalic leukoencephalopathy with subcortical cysts

ORPHA:2478Ауру
Autosomal dominant, Autosomal recessive

Megalencephaly-capillary malformation-polymicrogyria syndrome

ORPHA:60040Мальф.
Not applicable

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

ORPHA:83473Мальф.
Autosomal dominant, Not applicable

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

ORPHA:457359Мальф.
Autosomal recessive

Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency

ORPHA:661412Ауру

Megalocornea-intellectual disability syndrome

ORPHA:2479Мальф.

Meige disease

ORPHA:90186Ауру
Not applicable

Meigs syndrome

ORPHA:314451Clinical syndrome
Not applicable

Melanoma and neural system tumor syndrome

ORPHA:252206Ауру
Autosomal dominant, Unknown

Melanoma of soft tissue

ORPHA:97338Ауру
Not applicable

Melhem-Fahl syndrome

ORPHA:2482Мальф.

Melioidosis

ORPHA:31202Ауру

Melkersson-Rosenthal syndrome

ORPHA:2483Мальф.

Melnick-Needles syndrome

ORPHA:2484Мальф.
X-linked dominant

Melorheostosis

ORPHA:2485Мальф.
Not applicable

Melorheostosis with osteopoikilosis

ORPHA:1879Мальф.
Autosomal dominant

Mendelian susceptibility to mycobacterial diseases

ORPHA:748Клин. топ
Autosomal dominant, Autosomal recessive, X-linked recessive

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

ORPHA:99898Ауру
Autosomal recessive