Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Medulloblastoma with extensive nodularity
Not applicable
Childhood, Infancy
Meesmann corneal dystrophy
Autosomal dominant
Childhood
Megaconial congenital muscular dystrophy
Autosomal recessive
Infancy, Neonatal
Megacystis-megaureter syndrome
Infancy, Neonatal
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Infancy, Neonatal
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
Megalencephalic leukoencephalopathy with subcortical cysts
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Megalencephaly-capillary malformation-polymicrogyria syndrome
Not applicable
Antenatal, Neonatal
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Autosomal recessive
Neonatal
Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
Infancy, Neonatal
Megalocornea-intellectual disability syndrome
Childhood, Infancy, Neonatal
Meige disease
Not applicable
Adolescent, Childhood
Meigs syndrome
Not applicable
Adult
Melanoma and neural system tumor syndrome
Autosomal dominant, Unknown
Adult, Elderly
Melanoma of soft tissue
Not applicable
Adult
Melhem-Fahl syndrome
Neonatal
Melioidosis
All ages
Melkersson-Rosenthal syndrome
Childhood
Melnick-Needles syndrome
X-linked dominant
Childhood
Melorheostosis
Not applicable
All ages
Melorheostosis with osteopoikilosis
Autosomal dominant
All ages
Mendelian susceptibility to mycobacterial diseases
Autosomal dominant, Autosomal recessive, X-linked recessive
All ages
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Autosomal recessive
Infancy, Neonatal