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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 chr2A:43,896,188...43,922,756
Ensembl chr2A:44,745,183...44,771,012 		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 chr2A:43,922,787...43,966,678
Ensembl chr2A:44,771,247...44,904,830 		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 chr2A:44,463,474...44,876,680
Ensembl chr2A:45,398,350...45,808,747 		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 chr2A:43,858,368...43,912,262
Ensembl chr2A:44,706,777...44,742,724 		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 chr2A:43,975,949...44,083,846
Ensembl chr2A:44,914,578...45,021,434 		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 chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351 		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 chr2A:44,254,168...44,325,132
Ensembl chr2A:45,230,001...45,262,587 		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 chr2A:44,417,735...44,463,542
Ensembl chr2A:45,353,326...45,397,903 		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 chr2A:45,109,414...45,113,887
Ensembl chr2A:46,039,582...46,044,035 		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 chr2A:45,038,634...45,072,867 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 chr2A:44,371,328...44,419,611
Ensembl chr2A:45,307,885...45,355,386 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15805
    syndrome 10605
      holoprosencephaly 219
        holoprosencephaly 2 11
Path 2
Term Annotations click to browse term
  disease 15805
    Developmental Disease 13797
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12848
        Congenital Abnormalities 7711
          Nervous System Malformations 2437
            Agenesis of Corpus Callosum 377
              holoprosencephaly 219
                holoprosencephaly 2 11
paths to the root