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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 10
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Accession:DOID:9008280 term browser browse the term
Synonyms:exact_synonym: Holoprosencephaly with Microphthalmia and First Branchial Arch Anomalies
 primary_id: MESH:C567278

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Holoprosencephaly 10 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 term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9489
      holoprosencephaly 191
        Holoprosencephaly 10 1
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Pathologic Processes 6997
        Chromosome Aberrations 2340
          Aneuploidy 1714
            Monosomy 1468
              Chromosome Deletion 1468
                chromosomal deletion syndrome 1408
                  chromosome 1q41-q42 deletion syndrome 2
                    Holoprosencephaly 10 1
paths to the root