Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Congenital myopathy, Paradas type
Autosomal recessive
Infancy, Neonatal
Congenital nephrotic syndrome, Finnish type
Autosomal recessive
Antenatal, Infancy, Neonatal
Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
Autosomal recessive
Infancy, Neonatal
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Autosomal recessive
Infancy, Neonatal
Congenital oculomotor nerve palsy
Not applicable
Neonatal
Congenital panfollicular nevus
Infancy, Neonatal
Congenital plasminogen activator inhibitor type 1 deficiency
Autosomal recessive
Adolescent, Adult, Childhood, Elderly
Congenital prekallikrein deficiency
Autosomal recessive
Infancy, Neonatal
Congenital primary lymphedema of Gordon
Autosomal dominant
Adolescent, Adult, Childhood, Infancy, Neonatal
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Autosomal recessive
Neonatal
Congenital pseudoarthrosis of the clavicle
Not applicable
Childhood, Infancy, Neonatal
Congenital ptosis
Autosomal dominant, X-linked recessive
Infancy, Neonatal
Congenital pulmonary lymphangiectasia
Autosomal recessive
Neonatal
Congenital renal artery stenosis
Neonatal
Congenital reticular ichthyosiform erythroderma
Autosomal dominant
Neonatal
Congenital rubella syndrome
Not applicable
Antenatal, Neonatal
Congenital short QT syndrome
Autosomal dominant
All ages
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Autosomal recessive
Infancy, Neonatal
Congenital smooth muscle hamartoma
Not applicable
Infancy, Neonatal
Congenital sodium diarrhea
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Congenital stationary night blindness, Riggs type
Autosomal dominant, Autosomal recessive
Congenital stationary night blindness, Schubert-Bornschein type
Autosomal recessive, X-linked recessive
Congenital stromal corneal dystrophy
Autosomal dominant
Neonatal
Congenital sucrase-isomaltase deficiency
Autosomal recessive
Adolescent, Adult, Childhood, Infancy