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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. [PMID:10369266]
Synonyms:exact_synonym: HPE2
 primary_id: MESH:C563579
 alt_id: OMIM:157170;   RDO:0012802
For additional species annotation, visit the Alliance of Genome Resources.


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holoprosencephaly 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six3 SIX homeobox 3 ISO ClinVar Annotator: match by OMIM:157170
ClinVar Annotator: match by term: Holoprosencephaly 2
OMIM
ClinVar
PMID:10369266 PMID:10923031 PMID:11039582 PMID:15221788 PMID:15523651 PMID:17001667 PMID:17584896 PMID:18791198 PMID:19346217 PMID:19353631 PMID:20157829 PMID:20531442 PMID:25741868 PMID:26080100 PMID:26467025 PMID:28492532 NCBI chr 6:8,886,730...8,891,094
Ensembl chr 6:8,886,591...8,889,925
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      holoprosencephaly 36
        holoprosencephaly 2 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        Congenital Abnormalities 4788
          Nervous System Malformations 1101
            Agenesis of Corpus Callosum 145
              holoprosencephaly 36
                holoprosencephaly 2 1
paths to the root