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ONTOLOGY REPORT - ANNOTATIONS


Term:chromosome 10q23 deletion syndrome
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Accession:DOID:0060389 term browser browse the term
Definition:A chromosomal gene deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2. (DO)
Synonyms:primary_id: MESH:C567385
 alt_id: OMIM:612242;   RDO:0015472
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chromosome 10q23 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1a bone morphogenetic protein receptor type 1A JBrowse link 16 10,758,278 10,852,170 RGD:13592920

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Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      chromosomal deletion syndrome 607
        chromosome 10q23 deletion syndrome 1
Path 2
Term Annotations click to browse term
  disease 15609
    Pathological Conditions, Signs and Symptoms 8245
      Pathologic Processes 5301
        Chromosome Aberrations 845
          Aneuploidy 749
            Monosomy 654
              Chromosome Deletion 654
                chromosomal deletion syndrome 607
                  chromosome 10q23 deletion syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.