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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:Galloway-Mowat syndrome 4
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Accession:DOID:0080246 term browser browse the term
Definition:A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: GAMOS4
 primary_id: OMIM:617730
For additional species annotation, visit the Alliance of Genome Resources.


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Galloway-Mowat syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 4 ClinVar
OMIM
PMID:28805828 NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      Galloway-Mowat syndrome 10
        Galloway-Mowat syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      Urogenital Diseases 4159
        Female Urogenital Diseases and Pregnancy Complications 1926
          Female Urogenital Diseases 1632
            female reproductive system disease 1628
              prolapse of female genital organ 178
                enterocele 178
                  Diaphragmatic Hernia 110
                    hiatus hernia 20
                      Galloway-Mowat syndrome 10
                        Galloway-Mowat syndrome 4 1
paths to the root