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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 chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      holoprosencephaly 223
        Holoprosencephaly 10 1
Path 2
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Pathologic Processes 8326
        Chromosome Aberrations 2829
          Aneuploidy 1940
            Monosomy 1666
              Chromosome Deletion 1666
                chromosomal deletion syndrome 1604
                  chromosome 1q41-q42 deletion syndrome 2
                    Holoprosencephaly 10 1
paths to the root