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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: MIM:157170

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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 Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 NCBI chrNW_004955441:10,964,588...10,987,771
Ensembl chrNW_004955441:10,964,858...10,986,967 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 NCBI chrNW_004955441:10,982,307...11,004,789
Ensembl chrNW_004955441:10,982,307...11,009,116 		JBrowse link
G Camkmt calmodulin-lysine N-methyltransferase ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 NCBI chrNW_004955441:11,453,939...11,830,893
Ensembl chrNW_004955441:11,454,345...11,825,211 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 NCBI chrNW_004955441:10,928,577...10,961,194
Ensembl chrNW_004955441:10,928,343...10,961,194 		JBrowse link
G Lrpprc leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 NCBI chrNW_004955441:11,012,910...11,116,965 JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:25741868 PMID:34008892 NCBI chrNW_004955408:29,416,393...29,547,444
Ensembl chrNW_004955408:29,413,595...29,542,768 		JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent 1B ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 NCBI chrNW_004955441:11,276,525...11,338,586
Ensembl chrNW_004955441:11,276,525...11,352,095 		JBrowse link
G Prepl prolyl endopeptidase like ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 NCBI chrNW_004955441:11,418,299...11,453,889
Ensembl chrNW_004955441:11,418,299...11,453,218 		JBrowse link
G Six2 SIX homeobox 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 PMID:32796691 NCBI chrNW_004955441:12,029,530...12,033,214
Ensembl chrNW_004955441:12,029,480...12,033,214 		JBrowse link
G Six3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 OMIM
ClinVar		 PMID:10369266 PMID:10923031 PMID:11039582 PMID:14711609 PMID:15221788 More... NCBI chrNW_004955441:11,966,389...11,978,545
Ensembl chrNW_004955441:11,966,389...11,979,466 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 NCBI chrNW_004955441:11,381,390...11,418,193
Ensembl chrNW_004955441:11,381,441...11,418,025 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14316
    syndrome 9733
      holoprosencephaly 197
        holoprosencephaly 2 11
Path 2
Term Annotations click to browse term
  disease 14316
    Developmental Disease 12568
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11797
        Congenital Abnormalities 7143
          Nervous System Malformations 2322
            Agenesis of Corpus Callosum 341
              holoprosencephaly 197
                holoprosencephaly 2 11
paths to the root