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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
 broad_synonym: SIX3-RELATED CONDITION
 primary_id: MESH:C563579
 alt_id: MIM:157170


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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 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,889 		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 3:96,596,975...96,616,224
Ensembl chr 3:96,596,531...96,616,229 		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 3:95,688,400...96,092,028
Ensembl chr 3:95,688,405...96,092,078 		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 3:96,656,099...96,703,282
Ensembl chr 3:96,654,415...96,703,237 		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 3:96,474,510...96,590,706
Ensembl chr 3:96,474,549...96,595,143 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:25741868 PMID:28492532 PMID:34008892 NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,379...80,809,059 		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 3:96,237,660...96,317,278
Ensembl chr 3:96,221,873...96,317,247 		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 3:96,092,314...96,159,533
Ensembl chr 3:96,092,334...96,159,525 		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 3:95,460,046...95,463,428
Ensembl chr 3:95,459,945...95,463,251 		JBrowse link
G SIX3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 | ClinVar Annotator: match by term: SIX3-related condition OMIM
ClinVar		 PMID:10369266 PMID:10923031 PMID:11039582 PMID:14711609 PMID:15221788 More... NCBI chr 3:95,521,330...95,527,004
Ensembl chr 3:95,521,334...95,525,436 		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 3:96,157,387...96,201,057
Ensembl chr 3:96,157,380...96,215,454 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15436
    syndrome 10449
      holoprosencephaly 219
        holoprosencephaly 2 11
Path 2
Term Annotations click to browse term
  disease 15436
    Developmental Disease 13502
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12625
        Congenital Abnormalities 7625
          Nervous System Malformations 2421
            Agenesis of Corpus Callosum 376
              holoprosencephaly 219
                holoprosencephaly 2 11
paths to the root