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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Medulloblastoma with extensive nodularity

ORPHA:251858Гист. подт.
Not applicable

Meesmann corneal dystrophy

ORPHA:98954Заболевание
Autosomal dominant

Megaconial congenital muscular dystrophy

ORPHA:280671Заболевание
Autosomal recessive

Megacystis-megaureter syndrome

ORPHA:238637Заболевание

Megacystis-microcolon-intestinal hypoperistalsis syndrome

ORPHA:2241Порок
Autosomal dominant, Autosomal recessive

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

ORPHA:402023Заболевание

Megalencephalic leukoencephalopathy with subcortical cysts

ORPHA:2478Заболевание
Autosomal dominant, Autosomal recessive

Megalencephaly-capillary malformation-polymicrogyria syndrome

ORPHA:60040Порок
Not applicable

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

ORPHA:83473Порок
Autosomal dominant, Not applicable

Megalencephaly-severe kyphoscoliosis-overgrowth syndrome

ORPHA:457359Порок
Autosomal recessive

Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency

ORPHA:661412Заболевание

Megalocornea-intellectual disability syndrome

ORPHA:2479Порок

Meige disease

ORPHA:90186Заболевание
Not applicable

Meigs syndrome

ORPHA:314451Clinical syndrome
Not applicable

Melanoma and neural system tumor syndrome

ORPHA:252206Заболевание
Autosomal dominant, Unknown

Melanoma of soft tissue

ORPHA:97338Заболевание
Not applicable

Melhem-Fahl syndrome

ORPHA:2482Порок

Melioidosis

ORPHA:31202Заболевание

Melkersson-Rosenthal syndrome

ORPHA:2483Порок

Melnick-Needles syndrome

ORPHA:2484Порок
X-linked dominant

Melorheostosis

ORPHA:2485Порок
Not applicable

Melorheostosis with osteopoikilosis

ORPHA:1879Порок
Autosomal dominant

Mendelian susceptibility to mycobacterial diseases

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

Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency

ORPHA:99898Заболевание
Autosomal recessive