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Disease Chromosome Disorders

Name Chromosome Disorders
Synonyms Autosomal Chromosome Disorder | Autosomal Chromosome Disorders | Chromosomal Disorder | Chromosomal Disorders | Chromosome Abnormality Disorder | Chromosome Abnormality Disorders | Chromosome Disorder | Chromosome Disorder, Autosomal | Chromosome Disorders, Autosomal | Disorder, Chromosomal | Disorder, Chromosome | Disorder, Chromosome Abnormality | Disorders, Chromosomal | Disorders, Chromosome
Definition Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Categories Congenital abnormality | Genetic disease (inborn)
MeSH® ID D025063

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes

Top ↑ Descendants

Chromosome Disorders Has associated chemicals Has associated genes
  10p Deletion Syndrome (Partial)
View node 13q deletion syndrome
  15q24 Microdeletion
  16p11.2 Deletion Syndrome
View node 22q11 Deletion Syndrome Has associated chemicals Has associated genes
  6q+ Syndrome, Partial
  7p2 monosomy syndrome
  9q22.3 Microdeletion
View node Angelman Syndrome Has associated chemicals Has associated genes
View node Beckwith-Wiedemann Syndrome Has associated chemicals Has associated genes
View node Branchio-Oto-Renal Syndrome Has associated chemicals Has associated genes
  Chromosome 10q duplication syndrome
  Chromosome 13q-mosaicism
  Chromosome 15q13.3 Microdeletion Syndrome
  Chromosome 17p13.3 Duplication Syndrome
  Chromosome 18 deletion syndrome
  Chromosome 18p deletion syndrome
  Chromosome 19q13.11 Deletion Syndrome
  Chromosome 1p36 Deletion Syndrome
  Chromosome 22, monosome mosaic
  Chromosome 3 duplication syndrome
  Chromosome 3q29 Duplication Syndrome
  Chromosome 4, 4q Terminal Deletion Syndrome
  Chromosome 4q- Syndrome
  Chromosome 5p13 Duplication Syndrome
  Chromosome 6 ring syndrome
  Chromosome 7 ring syndrome
  Chromosome Xp11.23-P11.22 Duplication Syndrome
  Contiguous Abcd1-Dxs1375e Deletion Syndrome Has associated chemicals Has associated genes
View node De Lange Syndrome Has associated chemicals Has associated genes
  Delayed Cranial Ossification due to CBFB Haploinsufficiency
  Deletion 13q syndrome, partial
View node Jacobsen Distal 11q Deletion Syndrome
View node Cri-du-Chat Syndrome Has associated chemicals Has associated genes
  Distal Trisomy 10q Syndrome
View node Down Syndrome Has associated chemicals Has associated genes
  Duplication 4p Syndrome
  Edinburgh Malformation Syndrome
  Emanuel syndrome
  Fragile Site 16p12
View node Holoprosencephaly Has associated chemicals Has associated genes
  Isodicentric Chromosome 15 Syndrome Has associated chemicals Has associated genes
  Mental Retardation, Fra12a Type Has associated chemicals Has associated genes
  Monosomy 7 of Bone Marrow
  Mosaic variegated aneuploidy syndrome Has associated chemicals Has associated genes
  NF1 Microduplication Syndrome
  Otodental Dysplasia
  Pallister Killian syndrome
  Partial Duplication 15q Syndrome
  Partial Trisomy 3q Syndrome
  Potocki-Lupski syndrome Has associated chemicals Has associated genes
  Potocki-Shaffer syndrome
View node Prader-Willi Syndrome Has associated chemicals Has associated genes
  Recombinant chromosome 8 syndrome
  Ring chromosome 4 syndrome
View node Rubinstein-Taybi Syndrome Has associated chemicals Has associated genes
  Schmid-Fraccaro syndrome Has associated genes
View node Sex Chromosome Disorders Has associated chemicals Has associated genes
View node Silver-Russell Syndrome Has associated chemicals Has associated genes
View node Smith-Magenis Syndrome Has associated chemicals Has associated genes
View node Sotos Syndrome Has associated chemicals Has associated genes
  Telomeric 22q13 Monosomy Syndrome Has associated chemicals Has associated genes
  Thrombocytopenia chromosome breakage
  Trisomy 13 syndrome
  Trisomy 18-Like Syndrome
  Trisomy 22 mosaicism syndrome
View node WAGR Syndrome Has associated chemicals Has associated genes
  Warburton Anyane Yeboa syndrome
View node Williams Syndrome Has associated chemicals Has associated genes
  Wolf-Hirschhorn Syndrome Has associated chemicals Has associated genes