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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: MIM:608149
 xref: ORDO:254519


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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 LOC120093383 small nucleolar RNA SNORD113/SNORD114 family ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,687,695...128,687,769
Ensembl chr 6:128,687,695...128,687,769
Ensembl chr 6:128,687,695...128,687,769 		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 Mir382 microRNA 382 ISO ClinVar Annotator: match by term: Paternal uniparental disomy 14 ClinVar PMID:18176563 NCBI chr 6:128,748,539...128,748,618 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 Snord113-3 small nucleolar RNA, C/D box 113-3 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
Ensembl chr 6:128,585,558...128,585,628 		JBrowse link
G Snord113l1 small nucleolar RNA, C/D box 113 like 1 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
Ensembl chr 6:128,690,850...128,690,924 		JBrowse link
G Snord113l3 small nucleolar RNA, C/D box 113 like 3 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
Ensembl chr 6:128,602,941...128,603,014 		JBrowse link
G Snord114-4 small nucleolar RNA, C/D box 114-4 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
Ensembl chr 6:128,680,869...128,680,943 		JBrowse link
G Snord114-9 small nucleolar RNA, C/D box 114-9 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
Ensembl chr 6:128,698,823...128,698,888 		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 19099
    syndrome 11271
      Kagami-Ogata syndrome 37
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Pathologic Processes 8259
        Chromosome Aberrations 2748
          Genetic Nondisjunction 37
            Uniparental Disomy 37
              Kagami-Ogata syndrome 37
paths to the root