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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 1
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Accession:DOID:0060364 term browser browse the term
Definition:A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. (DO)
Synonyms:exact_synonym: GAMOS1;   Galloway syndrome;   SCAR5;   WDR73-RELATED CONDITION;   autosomal recessive spinocerebellar ataxia 5;   microcephaly, hiatal hernia and nephrotic syndrome;   nephrosis-microcephaly syndrome;   nephrosis-neuronal dysmigration syndrome
 xref: MIM:251300;   MONDO:0033005

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Galloway-Mowat syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENG endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040 		JBrowse link
G WDR73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr29:3,707,254...3,718,600
Ensembl chr29:3,707,299...3,719,614 		JBrowse link
G ZNF592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr29:3,554,095...3,611,845
Ensembl chr29:3,553,618...3,611,834 		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 1 3
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 10515
            autosomal genetic disease 10066
              autosomal dominant disease 6519
                complex cortical dysplasia with other brain malformations 1621
                  Malformations of Cortical Development, Group I 1377
                    microcephaly 1132
                      Galloway-Mowat syndrome 13
                        Galloway-Mowat syndrome 1 3
paths to the root