Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Indolent systemic mastocytosis
Not applicable
Adult, Elderly
Infantile LAD-like disease due to RAC2 deficiency
Autosomal dominant
Infancy, Neonatal
Infantile Refsum disease
Autosomal recessive
All ages
Infantile apnea
Infancy, Neonatal
Infantile cerebellar-retinal degeneration
Autosomal recessive
Infancy, Neonatal
Infantile choroidocerebral calcification syndrome
Autosomal recessive
Infancy, Neonatal
Infantile digital fibromatosis
Childhood, Infancy, Neonatal
Infantile dystonia-parkinsonism
Autosomal recessive
Infancy, Neonatal
Infantile epileptic spasms syndrome
Autosomal dominant, Autosomal recessive, X-linked dominant
Infantile epileptic-dyskinetic encephalopathy
X-linked recessive
Infancy, Neonatal
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Autosomal recessive
Infancy, Neonatal
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Autosomal dominant
Infancy
Infantile inflammatory bowel disease with neurological involvement
Autosomal recessive
Infancy
Infantile mercury poisoning
Not applicable
Infancy
Infantile multisystem neurologic-endocrine-pancreatic disease
Autosomal recessive
Infancy
Infantile myofibromatosis
Autosomal dominant, Autosomal recessive, Not applicable
Antenatal, Infancy, Neonatal
Infantile neuroaxonal dystrophy
Autosomal recessive
Infancy, Neonatal
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 spasms-broad thumbs syndrome
Neonatal
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
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