Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Methylcobalamin deficiency type cblG
Autosomal recessive
All ages
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Autosomal recessive
Childhood, Infancy
Methylmalonic acidemia with homocystinuria
Autosomal recessive, X-linked recessive
All ages
Methylmalonic acidemia with homocystinuria type cblF
Autosomal recessive
Childhood
Methylmalonic acidemia with homocystinuria, type cblC
Autosomal recessive
All ages
Methylmalonic acidemia with homocystinuria, type cblD
Autosomal recessive
All ages
Methylmalonic acidemia with homocystinuria, type cblJ
Autosomal recessive
Infancy, Neonatal
Methylmalonic acidemia with homocystinuria, type cblX
X-linked recessive
Infancy, Neonatal
Methylmalonic acidemia without homocystinuria
Autosomal dominant, Autosomal recessive, X-linked dominant
All ages
Methylmalonic aciduria due to transcobalamin receptor defect
Autosomal recessive
Infancy, Neonatal
Mevalonate kinase deficiency
Not applicable
Infancy
Mevalonic aciduria
Autosomal recessive
Childhood, Infancy, Neonatal
MiT family translocation renal cell carcinoma
Adolescent, Adult, Childhood, Elderly, Infancy
Micro syndrome
Autosomal recessive
Childhood
Microbrachycephaly-ptosis-cleft lip syndrome
Autosomal recessive
Infancy, Neonatal
Microcephalic cortical malformations-short stature due to RTTN deficiency
Autosomal recessive
Infancy, Neonatal
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Autosomal recessive
Neonatal
Microcephalic osteodysplastic primordial dwarfism type II
Autosomal recessive
Antenatal, Infancy, Neonatal
Microcephalic osteodysplastic primordial dwarfism types I and III
Autosomal recessive
Antenatal, Infancy, Neonatal
Microcephalic primordial dwarfism due to ZNF335 deficiency
Autosomal recessive
Antenatal, Neonatal
Microcephalic primordial dwarfism, Dauber type
Autosomal recessive
Antenatal, Neonatal
Microcephalic primordial dwarfism, Montreal type
Infancy, Neonatal
Microcephalic primordial dwarfism, Toriello type
Antenatal, Neonatal
Microcephalic primordial dwarfism-insulin resistance syndrome
Autosomal recessive
Childhood, Infancy, Neonatal