Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
Infancy, Neonatal
Infantile neurovisceral acid sphingomyelinase deficiency
Autosomal recessive
Infancy, Neonatal
Infantile onset panniculitis with uveitis and systemic granulomatosis
Not applicable
Infancy, Neonatal
Infantile osteopetrosis with neuroaxonal dysplasia
Autosomal recessive
Infancy, Neonatal
Infantile spasms-broad thumbs syndrome
Neonatal
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Autosomal recessive
Infancy, Neonatal
Infantile systemic hyalinosis
Autosomal recessive
Infancy, Neonatal
Infantile-onset X-linked spinal muscular atrophy
X-linked recessive
Neonatal
Infantile-onset ascending hereditary spastic paralysis
Autosomal recessive
Infancy, Neonatal
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Autosomal recessive
Infancy, Neonatal
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
Autosomal recessive
Infancy
Infantile-onset generalized dyskinesia with orofacial involvement
Autosomal recessive
Infancy
Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome
Autosomal dominant
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Autosomal recessive
Infancy, Neonatal
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Autosomal recessive
Infancy, Neonatal
Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
Autosomal dominant
Infancy
Infantile-onset spinocerebellar ataxia
Autosomal recessive
Infancy
Infection-related hemolytic uremic syndrome
Not applicable
All ages
Infectious anterior uveitis
All ages
Infectious panuveitis
All ages
Infectious posterior uveitis
All ages
Infective dermatitis associated with HTLV-1
Not applicable
Childhood
Infective endocarditis
All ages
Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome
Autosomal dominant