Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Classic hairy cell leukemia
Unknown
Adult
Classic heparin-induced thrombocytopenia
Not applicable
All ages
Classic maple syrup urine disease
Autosomal recessive
Neonatal
Classic medulloblastoma
Childhood
Classic multiminicore myopathy
Autosomal recessive
Infancy, Neonatal
Classic mycosis fungoides
Multigenic/multifactorial, Not applicable
Adult
Classic neuroendocrine tumor of appendix
Not applicable
All ages
Classic pantothenate kinase-associated neurodegeneration
Autosomal recessive
Infancy, Neonatal
Classic progressive supranuclear palsy syndrome
Not applicable
Adult
Classic pyoderma gangrenosum
Multigenic/multifactorial
Adolescent, Adult, Childhood, Elderly
Classic stiff person syndrome
Not applicable
Adult
Classical Ehlers-Danlos syndrome
Autosomal dominant
Childhood, Infancy, Neonatal
Classical-like Ehlers-Danlos syndrome type 1
Autosomal recessive
Childhood, Infancy, Neonatal
Classical-like Ehlers-Danlos syndrome type 2
Autosomal recessive
Infancy, Neonatal
Clear cell adenocarcinoma of the ovary
Adult
Clear cell papillary renal cell carcinoma
Clear cell renal carcinoma
Not applicable
Adult, Elderly
Clear cell sarcoma of kidney
Not applicable
Adolescent, Adult, Childhood, Infancy
Cleft hard palate
Cleft lip and alveolus
Multigenic/multifactorial
Infancy, Neonatal
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Autosomal recessive
Neonatal
Cleft lip with or without cleft palate
Cleft lip/palate
Multigenic/multifactorial
Infancy, Neonatal
Cleft lip/palate-deafness-sacral lipoma syndrome
Unknown
Infancy, Neonatal