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ONTOLOGY REPORT - ANNOTATIONS


Term:holoprosencephaly 2
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Accession:DOID:0110872 term browser browse the term
Definition:A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. [PMID:10369266]
Synonyms:exact_synonym: HPE2
 primary_id: MESH:C563579
 alt_id: OMIM:157170;   RDO:0012802
For additional species annotation, visit the Alliance of Genome Resources.


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holoprosencephaly 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six3 SIX homeobox 3 JBrowse link 6 8,886,730 8,891,094 RGD:7240710
RGD:8554872

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Path 1
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  disease 15619
    physical disorder 744
      congenital nervous system abnormality 304
        holoprosencephaly 26
          holoprosencephaly 2 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                holoprosencephaly 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.