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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 4
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Accession:DOID:0110880 term browser browse the term
Definition:A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11. (DO)
Synonyms:exact_synonym: HPE4
 primary_id: MESH:C564180
 alt_id: OMIM:142946;   RDO:0013224
For additional species annotation, visit the Alliance of Genome Resources.


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holoprosencephaly 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by OMIM:142946
ClinVar Annotator: match by term: Holoprosencephaly 4
ClinVar
OMIM
PMID:10835638 PMID:11810641 PMID:12522553 PMID:16199538 PMID:16962354 More... NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      holoprosencephaly 71
        holoprosencephaly 4 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        Congenital Abnormalities 5588
          Nervous System Malformations 1652
            Agenesis of Corpus Callosum 195
              holoprosencephaly 71
                holoprosencephaly 4 1
paths to the root