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Term:holoprosencephaly 5
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Accession:DOID:0110878 term browser browse the term
Definition:A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. (DO)
Synonyms:exact_synonym: HPE5
 primary_id: MESH:C566464
 alt_id: OMIM:609637;   RDO:0014808
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holoprosencephaly 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zic2 Zic family member 2 JBrowse link 15 108,908,366 108,913,812 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15620
    physical disorder 744
      congenital nervous system abnormality 304
        holoprosencephaly 26
          holoprosencephaly 5 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                holoprosencephaly 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.