Orphanet Database • Orphadata CC-BY-4.0
Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
7,547
Заболеваний
4 552
Генов
8 700
Фенотипов
140
Регионов
Все (7,547)Biological anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformation syndromeMorphological anomalyParticular clinical situation in a disease or syndrome
Laminopathy with peripheral neuropathy
Laminopathy with premature aging
Laminopathy with striated muscle involvement
Lipoic acid biosynthesis defect
Autosomal recessive
Childhood, Neonatal
Lissencephaly
Infancy, Neonatal
Lymphoproliferative disease associated with primary immune disease
Childhood
Malformation of the neurenteric canal, spinal cord and column
Malignant epithelial tumor of ovary
Adult
Malignant germ cell tumor of ovary
Unknown
Adolescent, Adult, Childhood, Elderly, Infancy
Malignant non-epithelial tumor of ovary
Adult
Malignant sex cord stromal tumor of ovary
Not applicable
All ages
Malignant tumor of penis
Elderly
Mastocytosis
All ages
Microphthalmia-anophthalmia-coloboma
Autosomal dominant, Autosomal recessive, X-linked recessive
Antenatal, Neonatal
Midline cerebral malformation
Mitochondrial DNA depletion syndrome
All ages
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Autosomal recessive
All ages
Mucopolysaccharidosis
Myofibrillar myopathy
Autosomal dominant, Autosomal recessive
Adult
Neonatal diabetes mellitus
Autosomal dominant, Autosomal recessive, Not applicable
Infancy, Neonatal
Nephrotic syndrome without extrarenal manifestations
All ages
Neural tube closure defect
Neural tube defect
Neuroendocrine neoplasm
Unknown
Adult