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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 5
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Accession:DOID:0080247 term browser browse the term
Definition:A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13. (DO)
Synonyms:exact_synonym: GAMOS5
 primary_id: OMIM:617731
For additional species annotation, visit the Alliance of Genome Resources.


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Galloway-Mowat syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 5 ClinVar
OMIM
PMID:28805828 NCBI chr 4:117,589,527...117,604,481
Ensembl chr 4:117,780,533...117,785,941
Ensembl chr 4:117,780,533...117,785,941
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Galloway-Mowat syndrome 10
        Galloway-Mowat syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                complex cortical dysplasia with other brain malformations 716
                  Malformations of Cortical Development, Group I 573
                    microcephaly 421
                      Galloway-Mowat syndrome 10
                        Galloway-Mowat syndrome 5 1
paths to the root