Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Inherited epidermodysplasia verruciformis
Autosomal recessive
All ages
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Autosomal recessive
Infancy, Neonatal
Inherited isolated arrhythmogenic cardiomyopathy
Autosomal dominant
No data available
Insulin autoimmune syndrome
Not applicable
Adult, Elderly
Insulin-resistance syndrome type A
Autosomal dominant, Autosomal recessive
Adolescent, Adult, Childhood
Insulin-resistance syndrome type B
Not applicable
Adolescent, Adult, Childhood, Elderly
Insulinoma
Not applicable
All ages
Intellectual disability-alacrima-achalasia syndrome
X-linked recessive
Infancy, Neonatal
Intellectual disability-cupped ears syndrome
Autosomal dominant
Intellectual disability-epilepsy-extrapyramidal syndrome
Autosomal recessive
Infancy
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Autosomal recessive
Childhood
Intellectual disability-myopathy-short stature-endocrine defect syndrome
Neonatal
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Autosomal recessive
Infancy, Neonatal
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Autosomal recessive
Neonatal
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Autosomal dominant
Infancy
Intellectual disability-seizures-macrocephaly-obesity syndrome
Not applicable, Unknown
Infancy, Neonatal
Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
Autosomal dominant
Intellectual disability-strabismus syndrome
Autosomal recessive
Infancy, Neonatal
Interdigitating dendritic cell sarcoma
Adult
Intermediate DEND syndrome
Autosomal dominant, Autosomal recessive, Not applicable
Infancy, Neonatal
Intermediate collagen VI-related muscular dystrophy
Autosomal dominant, Autosomal recessive
Intermediate epidermolysis bullosa simplex with cardiomyopathy
Autosomal dominant
Neonatal
Intermediate generalized junctional epidermolysis bullosa
Autosomal recessive
Neonatal
Intermediate nemaline myopathy
Autosomal dominant, Autosomal recessive
Neonatal