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ONTOLOGY REPORT - ANNOTATIONS


Term:chromosome 1q41-q42 deletion syndrome
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Accession:DOID:0060412 term browser browse the term
Synonyms:exact_synonym: 1q41-q42 microdeletion syndrome;   1q41q42 microdeletion syndrome
 primary_id: OMIM:612530
 alt_id: RDO:9002053
 xref: GARD:3738;   ORDO:250999
For additional species annotation, visit the Alliance of Genome Resources.


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chromosome 1q41-q42 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53bp2 tumor protein p53 binding protein, 2 JBrowse link 13 100,817,206 100,873,837 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      chromosomal deletion syndrome 607
        chromosome 1q41-q42 deletion syndrome 1
          Holoprosencephaly 10 0
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 1q41-q42 deletion syndrome 1
                    Holoprosencephaly 10 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.