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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 11
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Accession:DOID:0110877 term browser browse the term
Definition:A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24. (DO)
Synonyms:exact_synonym: HPE11
 primary_id: OMIM:614226
 alt_id: RDO:9000452
For additional species annotation, visit the Alliance of Genome Resources.


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holoprosencephaly 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by OMIM:614226
ClinVar Annotator: match by term: Holoprosencephaly 11
OMIM
ClinVar
PMID:21802063 PMID:25741868 PMID:28492532 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      holoprosencephaly 34
        holoprosencephaly 11 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4721
          Nervous System Malformations 1041
            Agenesis of Corpus Callosum 128
              holoprosencephaly 34
                holoprosencephaly 11 1
paths to the root