Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Juvenile dermatomyositis
Not applicable
Adolescent, Childhood, Infancy
Juvenile glaucoma
Autosomal dominant
Adolescent, Childhood
Juvenile hyaline fibromatosis
Autosomal recessive
Childhood
Juvenile idiopathic arthritis
Childhood
Juvenile myasthenia gravis
Not applicable
Adolescent, Childhood, Infancy, Neonatal
Juvenile myelomonocytic leukemia
Not applicable
Childhood, Infancy
Juvenile myoclonic epilepsy
Multigenic/multifactorial
Adolescent, Childhood
Juvenile nasopharyngeal angiofibroma
Not applicable
Adolescent, Childhood
Juvenile nephronophthisis
Autosomal recessive
Juvenile nephropathic cystinosis
Autosomal recessive
Adolescent, Childhood
Juvenile or adult CACH syndrome
Autosomal recessive
Adolescent, Adult
Juvenile overlap myositis
Adolescent, Childhood
Juvenile polymyositis
Adolescent, Childhood
Juvenile polyposis of infancy
Autosomal dominant, Not applicable
Infancy, Neonatal
Juvenile polyposis syndrome
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
Juvenile primary lateral sclerosis
Autosomal recessive
Childhood
Juvenile sialidosis type 2
Autosomal recessive
Adolescent
Juvenile temporal arteritis
Unknown
Childhood
Juvenile xanthogranuloma
Not applicable
Adolescent, Childhood, Infancy, Neonatal
Juvenile-onset Steinert myotonic dystrophy
Autosomal dominant
Childhood
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Autosomal recessive
Adolescent, Childhood, Infancy
KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
Autosomal dominant
Infancy, Neonatal
KBG syndrome
Autosomal dominant
Adolescent, Childhood, Infancy, Neonatal
KCNQ2-related developmental and epileptic encephalopathy
Autosomal dominant
Infancy, Neonatal