Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Metabolic myopathy due to lactate transporter defect
Autosomal dominant
Metachondromatosis
Autosomal dominant
Childhood
Metachromatic leukodystrophy
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Metachromatic leukodystrophy, adult form
Autosomal recessive
Adult
Metachromatic leukodystrophy, juvenile form
Autosomal recessive
Adolescent, Childhood
Metachromatic leukodystrophy, late infantile form
Autosomal recessive
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
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Autosomal recessive
Infancy, Neonatal
Metaphyseal dysplasia, Braun-Tinschert type
Infancy, Neonatal
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Autosomal dominant
Infancy, Neonatal
Metaplastic carcinoma of the breast
Adult
Metatropic dysplasia
Autosomal dominant, Not applicable
Antenatal, Neonatal
Methanol poisoning
Not applicable
All ages
Methimazole embryofetopathy
Not applicable
Antenatal, Neonatal
Methionine adenosyltransferase I/III deficiency
Autosomal recessive
Infancy
Methotrexate toxicity
Not applicable
All ages
Methylcobalamin deficiency type cblDv1
Autosomal recessive
Methylcobalamin deficiency type cblE
Autosomal recessive
Childhood