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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
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Accession:DOID:0080694 term browser browse the term
Definition:A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy. (DO)
Synonyms:exact_synonym: CAMOS;   GAMOS;   Galloway syndrome;   cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities;   microcephaly, hiatal hernia and nephrotic syndrome;   microcephaly, hiatus hernia, and nephrotic syndrome;   nephrosis-microcephaly syndrome;   nephrosis-neuronal dysmigration syndrome
 primary_id: MESH:C537548
 alt_id: DOID:0060364;   MESH:C537311
 xref: GARD:65;   NCI:C132195;   OMIM:PS251300;   ORDO:2065


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Galloway-Mowat syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GON7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:31481669 NCBI chr 8:62,406,682...62,410,476
Ensembl chr 8:62,407,136...62,410,414 		JBrowse link
G LAGE3 L antigen family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:122,185,300...122,186,498 JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chr15:17,780,474...17,786,452
Ensembl chr15:17,780,476...17,811,173 		JBrowse link
G TP53RK TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr24:33,895,530...33,898,461
Ensembl chr24:33,895,640...33,898,446 		JBrowse link
G TPRKB TP53RK binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr17:49,271,845...49,278,794
Ensembl chr17:49,245,496...49,278,767 		JBrowse link
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr31:37,085,126...37,106,803
Ensembl chr31:37,085,779...37,106,788 		JBrowse link
G WDR73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr 3:53,914,048...53,927,130
Ensembl chr 3:53,914,619...53,927,034 		JBrowse link
G ZNF592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 3:53,980,438...54,056,011
Ensembl chr 3:53,990,434...54,114,486 		JBrowse link
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 chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064 		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 chr 3:53,914,048...53,927,130
Ensembl chr 3:53,914,619...53,927,034 		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 chr 3:53,980,438...54,056,011
Ensembl chr 3:53,990,434...54,114,486 		JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C15H1orf122 chromosome 15 C1orf122 homolog ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chr15:4,723,244...4,724,512
Ensembl chr15:4,723,616...4,724,386 		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 chr15:4,724,468...4,728,659
Ensembl chr15:4,723,716...4,728,000 		JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 NCBI chr  X:122,185,300...122,186,498 JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OSGEP O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr15:17,780,474...17,786,452
Ensembl chr15:17,780,476...17,811,173 		JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53RK TP53 regulating kinase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 NCBI chr24:33,895,530...33,898,461
Ensembl chr24:33,895,640...33,898,446 		JBrowse link
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 chr17:49,271,845...49,278,794
Ensembl chr17:49,245,496...49,278,767 		JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr31:37,085,126...37,106,803
Ensembl chr31:37,085,779...37,106,788 		JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr10:10,838,881...10,887,347
Ensembl chr10:10,838,944...10,887,197 		JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr 4:9,751,902...9,805,796
Ensembl chr 4:9,751,986...9,805,033 		JBrowse link
Galloway-Mowat Syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GON7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:25741868 PMID:31481669 NCBI chr 8:62,406,682...62,410,476
Ensembl chr 8:62,407,136...62,410,414 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    syndrome 10062
      Galloway-Mowat syndrome 13
        Galloway-Mowat Syndrome 10 2
        Galloway-Mowat Syndrome 6 1
        Galloway-Mowat Syndrome 7 1
        Galloway-Mowat Syndrome 8 1
        Galloway-Mowat Syndrome 9 1
        Galloway-Mowat syndrome 1 3
        Galloway-Mowat syndrome 2 1
        Galloway-Mowat syndrome 3 1
        Galloway-Mowat syndrome 4 1
        Galloway-Mowat syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        genetic disease 17431
          monogenic disease 10125
            autosomal genetic disease 9332
              autosomal dominant disease 6137
                complex cortical dysplasia with other brain malformations 1587
                  Malformations of Cortical Development, Group I 1368
                    microcephaly 1121
                      Galloway-Mowat syndrome 13
                        Galloway-Mowat Syndrome 10 2
                        Galloway-Mowat Syndrome 6 1
                        Galloway-Mowat Syndrome 7 1
                        Galloway-Mowat Syndrome 8 1
                        Galloway-Mowat Syndrome 9 1
                        Galloway-Mowat syndrome 1 3
                        Galloway-Mowat syndrome 2 1
                        Galloway-Mowat syndrome 3 1
                        Galloway-Mowat syndrome 4 1
                        Galloway-Mowat syndrome 5 1
paths to the root