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ONTOLOGY REPORT - ANNOTATIONS


Term:holoprosencephaly 9
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Accession:DOID:0110873 term browser browse the term
Definition:A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. (DO)
Synonyms:exact_synonym: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES;   HPE9;   Pituitary Anomalies with Holoprosencephaly-Like Features
 primary_id: MESH:C563659
 alt_id: OMIM:610829;   RDO:0012857
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holoprosencephaly 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    physical disorder 744
      polydactyly 114
        holoprosencephaly 9 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            thalamic disease 196
              hypothalamic disease 196
                pituitary gland disease 154
                  hypopituitarism 41
                    holoprosencephaly 9 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.