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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
holoprosencephaly 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by OMIM:610829
ClinVar Annotator: match by term: Holoprosencephaly 9
OMIM
ClinVar
PMID:1756909, PMID:14581620, PMID:15994174, PMID:16327884, PMID:17096318, PMID:17569090, PMID:19223936, PMID:20685056, PMID:20685856, PMID:21204792, PMID:21416594, PMID:22967285, PMID:22978696, PMID:23408573, PMID:24744436, PMID:25741868, PMID:26893459, PMID:28492532, PMID:29876959, PMID:30311386, PMID:30548673 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    physical disorder 985
      polydactyly 130
        holoprosencephaly 9 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            thalamic disease 195
              hypothalamic disease 195
                pituitary gland disease 150
                  hypopituitarism 44
                    holoprosencephaly 9 1
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.