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RGD uses the Human Disease Ontology (DO, 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
PMID:9536098 PMID:17576681 PMID:21802063 PMID:25741868 PMID:28166811 More... NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      holoprosencephaly 72
        holoprosencephaly 11 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Nervous System Malformations 1653
            Agenesis of Corpus Callosum 196
              holoprosencephaly 72
                holoprosencephaly 11 1
paths to the root