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Metadata
ID SO:0000340
Name chromosome
Parent Relationships

is_a biological_region

Related Diseases

has material basis in

  • Kleefstra syndrome 1
  • chromosomal deletion syndrome
  • NFIA-related disorder
  • SATB2-associated syndrome
  • chromosomal duplication syndrome
  • posterior amorphous corneal dystrophy
  • syndromic X-linked intellectual disability Lubs type
  • hypotonia-cystinuria syndrome
  • Y-linked spermatogenic failure 1
  • hereditary nonpolyposis colorectal cancer type 8
  • split hand-foot malformation 3
  • alpha thalassemia-intellectual disability syndrome type 1
  • Axenfeld-Rieger syndrome type 2
  • autosomal dominant nonsyndromic deafness 51
  • hereditary mixed polyposis syndrome 1
  • Potocki-Shaffer syndrome
  • 46,XY sex reversal 4
  • 46,XY sex reversal 10
  • syndactyly type 1
  • AMME complex
  • DiGeorge syndrome
  • Cri-Du-Chat syndrome
  • Down syndrome
  • Williams-Beuren syndrome
  • Rubinstein-Taybi syndrome
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