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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: MIM:617731

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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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr14:33,518,089...33,526,122
Ensembl chr14:33,521,398...33,527,613 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    syndrome 10365
      Galloway-Mowat syndrome 13
        Galloway-Mowat syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 15388
    Developmental Disease 13448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12573
        genetic disease 12270
          monogenic disease 10479
            autosomal genetic disease 10029
              autosomal dominant disease 6476
                complex cortical dysplasia with other brain malformations 1621
                  Malformations of Cortical Development, Group I 1377
                    microcephaly 1132
                      Galloway-Mowat syndrome 13
                        Galloway-Mowat syndrome 5 1
paths to the root