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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 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 17289
    syndrome 8166
      holoprosencephaly 72
        holoprosencephaly 7 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 7 1
paths to the root