Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
Autosomal recessive
All ages
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Autosomal dominant
Childhood
Meningioma
Not applicable
All ages
Meningococcal meningitis
Not applicable
All ages
Menkes disease
X-linked recessive
Neonatal
Menstrual cycle-dependent periodic fever
Adolescent, Adult
Mercury poisoning
Not applicable
All ages
Mesial temporal lobe epilepsy with hippocampal sclerosis
Adolescent, Adult, Childhood, Elderly, Infancy
Mesothelioma of the tunica vaginalis
Elderly
Metabolic myopathy due to lactate transporter defect
Autosomal dominant
Metachromatic leukodystrophy
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Metaphyseal anadysplasia
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Metaphyseal chondrodysplasia, Jansen type
Autosomal dominant
Infancy, Neonatal
Metaphyseal chondrodysplasia, Kaitila type
Neonatal
Metaphyseal chondrodysplasia, Rosenberg type
Adolescent
Metaphyseal chondrodysplasia, Schmid type
Autosomal dominant
Childhood, Infancy, Neonatal
Metaphyseal chondrodysplasia, Spahr type
Autosomal recessive
Childhood
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Not applicable
Childhood, Infancy, Neonatal
Metaplastic carcinoma of the breast
Adult
Metatropic dysplasia
Autosomal dominant, Not applicable
Antenatal, Neonatal
Methanol poisoning
Not applicable
All ages
Methionine adenosyltransferase I/III deficiency
Autosomal recessive
Infancy
Methotrexate toxicity
Not applicable
All ages
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Autosomal recessive
Childhood, Infancy