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
Mosaic NF2-related schwannomatosis
Infancy, Neonatal
Mosaic genome-wide paternal uniparental disomy syndrome
Antenatal, Neonatal
Mosaic monosomy X syndrome
Not applicable
Antenatal, Childhood, Infancy, Neonatal
Mosaic neurofibromatosis type 1
Infancy, Neonatal
Mosaic schwannomatosis
Infancy, 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
Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome
Autosomal recessive