Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Congenital glucokinase-related hyperinsulinism
Autosomal dominant
Infancy, Neonatal
Congenital heart block
Not applicable
Infancy, Neonatal
Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome
Autosomal dominant
Congenital heart defect-round face-developmental delay syndrome
Infancy, Neonatal
Congenital hereditary endothelial dystrophy type II
Autosomal recessive
Infancy, Neonatal
Congenital hereditary facial paralysis-variable hearing loss syndrome
Autosomal recessive
Infancy, Neonatal
Congenital herpes simplex virus infection
Not applicable
Antenatal, Neonatal
Congenital high-molecular-weight kininogen deficiency
Autosomal recessive
Congenital hydrocephalus
Not applicable
Antenatal
Congenital hyperinsulinism due to HNF4A deficiency
Autosomal dominant
Infancy, Neonatal
Congenital hypogonadotropic hypogonadism
Autosomal dominant, Autosomal recessive, X-linked recessive
Infancy, Neonatal
Congenital hypothyroidism
Autosomal recessive
Antenatal, Neonatal
Congenital hypothyroidism due to developmental anomaly
Congenital hypothyroidism due to maternal intake of antithyroid drugs
Infancy, Neonatal
Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
Not applicable
Neonatal
Congenital ichthyosiform erythroderma
Autosomal recessive
Infancy, Neonatal
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Autosomal recessive
Infancy, Neonatal
Congenital ichthyosis-microcephalus-tetraplegia syndrome
Unknown
Infancy, Neonatal
Congenital infiltrating lipomatosis of the face
Neonatal
Congenital insensitivity to pain syndrome, Marsili type
Autosomal dominant
Childhood, Infancy, Neonatal
Congenital insensitivity to pain with severe intellectual disability
Autosomal recessive
Neonatal
Congenital insensitivity to pain-anosmia-neuropathic arthropathy
Autosomal dominant, Autosomal recessive
Neonatal
Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation
Unknown
Infancy, Neonatal
Congenital intrahepatic arterioportal fistula
Not applicable