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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:Kagami-Ogata syndrome
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Accession:DOID:0111712 term browser browse the term
Definition:A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32. (DO)
Synonyms:exact_synonym: Chromosome 14, Paternal Uniparental Disomy;   Paternal uniparental disomy 14
 primary_id: MESH:C536471
 alt_id: OMIM:608149
 xref: ORDO:254519
For additional species annotation, visit the Alliance of Genome Resources.



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Kagami-Ogata syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Begain brain-enriched guanylate kinase-associated ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:127,943,651...127,979,876
Ensembl chr 6:127,943,651...127,979,841
JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
JBrowse link
G LOC120093375 small nucleolar RNA SNORD113/SNORD114 family ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,690,850...128,690,924
Ensembl chr 6:128,690,850...128,690,924
JBrowse link
G LOC120093404 small nucleolar RNA SNORD113/SNORD114 family ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,585,558...128,585,628
Ensembl chr 6:128,585,558...128,585,628
JBrowse link
G LOC120093405 small nucleolar RNA SNORD113/SNORD114 family ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,602,941...128,603,014
Ensembl chr 6:128,602,941...128,603,014
JBrowse link
G LOC120093408 small nucleolar RNA SNORD113/SNORD114 family ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,698,823...128,698,888
Ensembl chr 6:128,698,823...128,698,888
JBrowse link
G LOC120093409 small nucleolar RNA SNORD113/SNORD114 family ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,680,869...128,680,943
Ensembl chr 6:128,680,869...128,680,943
JBrowse link
G Meg3 maternally expressed 3 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,491,808...128,524,010 JBrowse link
G Mir127 microRNA 127 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,546,215...128,546,311
Ensembl chr 6:128,546,215...128,546,311
JBrowse link
G Mir134 microRNA 134 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,748,908...128,748,980 JBrowse link
G Mir136 microRNA 136 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,549,096...128,549,177
Ensembl chr 6:128,549,096...128,549,177
JBrowse link
G Mir154 microRNA 154 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,752,947...128,753,030
Ensembl chr 6:128,752,947...128,753,030
JBrowse link
G Mir299b microRNA 299b ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,723,635...128,723,752
Ensembl chr 6:128,723,635...128,723,752
JBrowse link
G Mir300 microRNA 300 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,738,513...128,738,591
Ensembl chr 6:128,738,505...128,738,594
JBrowse link
G Mir323 microRNA 323 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,725,539...128,725,624
Ensembl chr 6:128,725,539...128,725,624
JBrowse link
G Mir337 microRNA 337 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,538,903...128,538,999
Ensembl chr 6:128,538,902...128,538,998
JBrowse link
G Mir3581 microRNA 3581 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,757,779...128,757,858
Ensembl chr 6:128,757,779...128,757,858
JBrowse link
G Mir370 microRNA 370 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,572,257...128,572,335
Ensembl chr 6:128,572,257...128,572,335
JBrowse link
G Mir377 microRNA 377 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,755,051...128,755,122 JBrowse link
G Mir381 microRNA 381 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,740,976...128,741,036 JBrowse link
G Mir409 microRNA 409 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858
JBrowse link
G Mir410 microRNA 410 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,758,358...128,758,433
Ensembl chr 6:128,758,354...128,758,434
JBrowse link
G Mir411 microRNA 411 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,723,189...128,723,264
Ensembl chr 6:128,723,184...128,723,279
JBrowse link
G Mir412 microRNA 412 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,757,932...128,758,001
Ensembl chr 6:128,757,926...128,758,005
JBrowse link
G Mir431 microRNA 431 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,544,210...128,544,323
Ensembl chr 6:128,544,210...128,544,323
JBrowse link
G Mir433 microRNA 433 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,545,119...128,545,211
Ensembl chr 6:128,545,112...128,545,217
JBrowse link
G Mir487b microRNA 487b ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,741,485...128,741,566
Ensembl chr 6:128,741,485...128,741,566
JBrowse link
G Mir494 microRNA 494 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
JBrowse link
G Mir496 microRNA 496 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,753,644...128,753,722
Ensembl chr 6:128,753,644...128,753,722
JBrowse link
G Mir541 microRNA 541 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,757,016...128,757,105
Ensembl chr 6:128,757,016...128,757,105
JBrowse link
G Mir544 microRNA 544 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,743,530...128,743,607
Ensembl chr 6:128,743,530...128,743,607
JBrowse link
G Mir665 microRNA 665 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,539,440...128,539,533
Ensembl chr 6:128,539,440...128,539,533
JBrowse link
G Mir770 microRNA 770 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,515,843...128,515,918
Ensembl chr 6:128,515,835...128,515,928
JBrowse link
G Rtl1 retrotransposon-like 1 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,543,904...128,549,384
Ensembl chr 6:128,543,939...128,549,182
JBrowse link
G Wdr25 WD repeat domain 25 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:127,807,347...127,939,795
Ensembl chr 6:127,807,421...127,938,929
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      Kagami-Ogata syndrome 35
Path 2
Term Annotations click to browse term
  disease 18109
    Pathological Conditions, Signs and Symptoms 11297
      Pathologic Processes 7693
        Chromosome Aberrations 2280
          Nondisjunction, Genetic 35
            Uniparental Disomy 35
              Kagami-Ogata syndrome 35
paths to the root