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Сирек (орфандық) аурулар
7,547 аурудың толық базасы: генетика, фенотиптер, эпидемиология, препараттар және зерттеулер.
7,547
Аурулар
4 552
Гендер
8 700
Фенотиптер
140
Аймақтар
Все (7,547)Био аномалияСанатКлиникалық топКлиникалық подтипClinical syndromeАуруЭтиологиялық подтипГистопатологиялық подтипМальформацияМорфологиялық аномалияКлиникалық жағдай
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