Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
McLeod neuroacanthocytosis syndrome
X-linked recessive
Adult
Meconium aspiration syndrome
Not applicable
Infancy, Neonatal
Medial condensing osteitis of the clavicle
Not applicable
Adolescent, Adult, Childhood
Medich giant platelet syndrome
Infancy, Neonatal
Medium chain acyl-CoA dehydrogenase deficiency
Autosomal recessive
Infancy, Neonatal
Medullary thyroid carcinoma
Not applicable
Adult
Medulloblastoma
Not applicable
All ages
Meesmann corneal dystrophy
Autosomal dominant
Childhood
Megaconial congenital muscular dystrophy
Autosomal recessive
Infancy, Neonatal
Megacystis-megaureter syndrome
Infancy, Neonatal
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
Megalencephalic leukoencephalopathy with subcortical cysts
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
Infancy, Neonatal
Meige disease
Not applicable
Adolescent, Childhood
Melanoma and neural system tumor syndrome
Autosomal dominant, Unknown
Adult, Elderly
Melanoma of soft tissue
Not applicable
Adult
Melioidosis
All ages
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Autosomal recessive
Infancy, Neonatal
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Autosomal recessive
Infancy, Neonatal
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Autosomal recessive
Infancy, Neonatal
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Autosomal recessive
Childhood
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Autosomal recessive
Childhood
Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Autosomal recessive
Infancy
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Autosomal dominant
Infancy, Neonatal