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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 2
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Accession:DOID:0110872 term browser browse the term
Definition:A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. (DO)
Synonyms:exact_synonym: HPE2
 primary_id: MESH:C563579
 alt_id: OMIM:157170


show annotations for term's descendants           Sort by:
holoprosencephaly 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsd1 nuclear receptor-binding SET-domain protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:25741868 PMID:34008892 NCBI chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138 		JBrowse link
G Six2 sine oculis-related homeobox 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:28492532 PMID:32796691 NCBI chr17:85,970,276...85,995,682
Ensembl chr17:85,991,705...85,995,702 		JBrowse link
G Six3 sine oculis-related homeobox 3 ISO
IAGP		 OMIM:157170
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly 2		 OMIM
MouseDO
CTD
ClinVar		 PMID:10369266 PMID:10923031 PMID:11039582 PMID:14711609 PMID:15221788 More... NCBI chr17:85,921,036...85,933,619
Ensembl chr17:85,921,036...85,936,730 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      holoprosencephaly 217
        holoprosencephaly 2 3
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        Congenital Abnormalities 7605
          Nervous System Malformations 2388
            Agenesis of Corpus Callosum 372
              holoprosencephaly 217
                holoprosencephaly 2 3
paths to the root