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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 7
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Accession:DOID:0110876 term browser browse the term
Definition:A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: HPE7
 primary_id: MESH:C563660
 alt_id: OMIM:610828;   RDO:0012858
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      holoprosencephaly 34
        holoprosencephaly 7 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          Nervous System Malformations 1084
            Agenesis of Corpus Callosum 142
              holoprosencephaly 34
                holoprosencephaly 7 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.