Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Multifocal sporadic venous malformation
Not applicable
Multiloculated renal cyst
Adult, Elderly, Infancy
Multiminicore myopathy
Autosomal dominant, Autosomal recessive
Antenatal, Childhood, Infancy, Neonatal
Multinodular goiter-cystic kidney-polydactyly syndrome
Autosomal dominant
Antenatal, Neonatal
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Autosomal recessive
Antenatal
Multiple acyl-CoA dehydrogenase deficiency
Autosomal recessive
All ages
Multiple acyl-CoA dehydrogenase deficiency, mild type
Autosomal recessive
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
Autosomal recessive
Infancy, Neonatal
Multiple benign circumferential skin creases on limbs
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Multiple carboxylase deficiency
Autosomal recessive
Infancy, Neonatal
Multiple congenital anomalies-hypotonia-seizures syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
X-linked recessive
Antenatal, Infancy, Neonatal
Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
Autosomal dominant
Multiple endocrine neoplasia
Autosomal dominant, Not applicable
All ages
Multiple endocrine neoplasia type 1
Autosomal dominant, Not applicable
All ages
Multiple endocrine neoplasia type 2
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
Multiple endocrine neoplasia type 2A
Autosomal dominant
Childhood
Multiple endocrine neoplasia type 2B
Autosomal dominant
Childhood
Multiple endocrine neoplasia type 4
Autosomal dominant, Not applicable
Adult
Multiple epiphyseal dysplasia
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Autosomal dominant
Adolescent, Childhood
Multiple epiphyseal dysplasia type 1
Autosomal dominant
Childhood
Multiple epiphyseal dysplasia type 4
Autosomal recessive
Childhood
Multiple epiphyseal dysplasia type 5
Autosomal dominant
Childhood