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
Monosomy 5p syndrome
Not applicable, Unknown
Antenatal
Monosomy 9p syndrome
Antenatal, Neonatal
Monosomy 9q22.3 syndrome
Not applicable, Unknown
Infancy, Neonatal
Morgagni-Stewart-Morel syndrome
Autosomal dominant, X-linked recessive
Adult
Mosaic genome-wide paternal uniparental disomy syndrome
Antenatal, Neonatal
Mosaic trisomy 1 syndrome
Neonatal
Mosaic trisomy 10 syndrome
Antenatal, Neonatal
Mosaic trisomy 12 syndrome
Antenatal, Neonatal
Mosaic trisomy 14 syndrome
Antenatal, Neonatal
Mosaic trisomy 15 syndrome
Antenatal, Neonatal
Mosaic trisomy 16 syndrome
Antenatal, Neonatal
Mosaic trisomy 17 syndrome
Antenatal, Neonatal
Mosaic trisomy 2 syndrome
Antenatal, Neonatal
Mosaic trisomy 20 syndrome
Antenatal, Neonatal
Mosaic trisomy 22 syndrome
Antenatal, Neonatal
Mosaic trisomy 3 syndrome
Antenatal, Neonatal
Mosaic trisomy 4 syndrome
Antenatal, Neonatal
Mosaic trisomy 5 syndrome
Antenatal, Neonatal
Mosaic trisomy 7 syndrome
Antenatal, Neonatal
Mosaic trisomy 8 syndrome
Not applicable, Unknown
Antenatal, Infancy, Neonatal
Mosaic trisomy 9 syndrome
Infancy, Neonatal
Mosaic variegated aneuploidy syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
Autosomal dominant
Mowat-Wilson syndrome
Autosomal dominant
Antenatal, Neonatal