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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 Trp53rka transformation related protein 53 regulating kinase A ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar
PMID:25741868 PMID:28805828 PMID:32581362 NCBI chr 3:154,221,605...154,224,841
Ensembl chr 3:154,220,851...154,224,328
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    syndrome 9705
      Galloway-Mowat syndrome 13
        Galloway-Mowat syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal dominant disease 5310
                complex cortical dysplasia with other brain malformations 1451
                  Malformations of Cortical Development, Group I 1301
                    microcephaly 1125
                      Galloway-Mowat syndrome 13
                        Galloway-Mowat syndrome 4 1
paths to the root