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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 10
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Accession:DOID:9002926 term browser browse the term
Definition:A severe autosomal recessive disorder characterized by onset of symptoms soon after birth (progressive renal dysfunction with proteinuria associated with diffuse mesangial sclerosis). Caused by homozygous or compound heterozygous mutation in the YRDC gene on chromosome 1p34.
Synonyms:exact_synonym: GAMOS10
 primary_id: OMIM:619609

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Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH1orf122 chromosome unknown C1orf122 homolog ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chrNW_004936474:19,979,705...19,981,362
Ensembl chrNW_004936474:19,979,710...19,981,366 		JBrowse link
G Yrdc yrdC N6-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chrNW_004936474:19,975,781...19,980,103
Ensembl chrNW_004936474:19,975,849...19,980,096 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      Galloway-Mowat syndrome 13
        Galloway-Mowat Syndrome 10 2
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal dominant disease 5828
                complex cortical dysplasia with other brain malformations 1547
                  Malformations of Cortical Development, Group I 1335
                    microcephaly 1105
                      Galloway-Mowat syndrome 13
                        Galloway-Mowat Syndrome 10 2
paths to the root