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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


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 chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563 		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 chr 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912 		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 chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242 		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 chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336 		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 chr 6:9,859,816...9,942,294
Ensembl chr 6:9,859,867...9,942,293 		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 chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		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 chr 6:9,646,695...9,707,471
Ensembl chr 6:9,655,765...9,707,974 		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 chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772 		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 chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193 		JBrowse link
G Six3 SIX homeobox 3 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:157170
ClinVar Annotator: match by term: Holoprosencephaly 2		 OMIM
CTD
MouseDO
ClinVar		 PMID:10369266 PMID:10923031 PMID:11039582 PMID:14711609 PMID:15221788 More... NCBI chr 6:9,039,017...9,043,336
Ensembl chr 6:9,036,434...9,053,301 		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 chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      holoprosencephaly 223
        holoprosencephaly 2 11
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13610
        Congenital Abnormalities 7780
          Nervous System Malformations 2449
            Agenesis of Corpus Callosum 378
              holoprosencephaly 223
                holoprosencephaly 2 11
paths to the root