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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;   TP53RK-RELATED CONDITION
 primary_id: MIM:617730


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Galloway-Mowat syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53rka Tp53 tumor protein p53 regulating kinase A ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 | ClinVar Annotator: match by term: TP53RK-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 PMID:36873107 NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:174,638,962...174,643,347 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Galloway-Mowat syndrome 13
        Galloway-Mowat syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                diaphragm disease 123
                  Diaphragmatic Hernia 122
                    hiatus hernia 24
                      Galloway-Mowat syndrome 13
                        Galloway-Mowat syndrome 4 1
paths to the root