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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 1
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Accession:DOID:0110881 term browser browse the term
Definition:A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3. (DO)
Synonyms:exact_synonym: HPE1;   cyclopia
 primary_id: MESH:C562573
 alt_id: OMIM:236100


show annotations for term's descendants           Sort by:
holoprosencephaly 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:18596921 PMID:21045958 PMID:28492532 NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Gas1 growth arrest-specific 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:20583177 PMID:21842183 NCBI chr17:4,482,168...4,485,153 JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:22859937 NCBI chr15:99,576,697...99,581,522
Ensembl chr15:99,576,697...99,581,522 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      holoprosencephaly 215
        holoprosencephaly 1 5
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Nervous System Malformations 2371
            Agenesis of Corpus Callosum 369
              holoprosencephaly 215
                holoprosencephaly 1 5
paths to the root