Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:holoprosencephaly 9
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
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

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
paths to the root


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