Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Congenital fiber-type disproportion myopathy
Autosomal dominant, Autosomal recessive, X-linked recessive
Infancy, Neonatal
Congenital fibrinogen deficiency
Autosomal dominant, Autosomal recessive
All ages
Congenital fibrosis of extraocular muscles
Autosomal dominant, Autosomal recessive, Not applicable
Neonatal
Congenital generalized hypercontractile muscle stiffness syndrome
Autosomal dominant, Not applicable
Antenatal, Neonatal
Congenital generalized lipodystrophy
Autosomal recessive
Childhood, Infancy, Neonatal
Congenital glaucoma
Autosomal dominant, Autosomal recessive, Not applicable
Infancy, Neonatal
Congenital glucokinase-related hyperinsulinism
Autosomal dominant
Infancy, Neonatal
Congenital heart block
Not applicable
Infancy, Neonatal
Congenital hereditary endothelial dystrophy type II
Autosomal recessive
Infancy, Neonatal
Congenital herpes simplex virus infection
Not applicable
Antenatal, Neonatal
Congenital high-molecular-weight kininogen deficiency
Autosomal recessive
Congenital hyperinsulinism due to HNF4A deficiency
Autosomal dominant
Infancy, Neonatal
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 intrinsic factor deficiency
Autosomal recessive, Not applicable
Childhood
Congenital isolated ACTH deficiency
Autosomal recessive
Neonatal