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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: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:132,936,964...132,972,569
Ensembl chr 6:132,936,970...132,972,511
JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,576,513...133,583,751
Ensembl chr 6:133,552,821...133,583,751
JBrowse link
G Mir127 microRNA 127 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,713,430...133,713,526
Ensembl chr 6:133,713,430...133,713,526
JBrowse link
G Mir134 microRNA 134 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,884,547...133,884,619
Ensembl chr 6:133,884,531...133,884,633
JBrowse link
G Mir136 microRNA 136 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,716,761...133,716,842
Ensembl chr 6:133,716,761...133,716,842
JBrowse link
G Mir154 microRNA 154 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,888,586...133,888,669
Ensembl chr 6:133,888,586...133,888,669
JBrowse link
G Mir299b microRNA 299b ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,859,295...133,859,412
Ensembl chr 6:133,859,295...133,859,412
JBrowse link
G Mir300 microRNA 300 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,874,152...133,874,230
Ensembl chr 6:133,874,144...133,874,233
JBrowse link
G Mir323 microRNA 323 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,861,199...133,861,284
Ensembl chr 6:133,861,199...133,861,284
JBrowse link
G Mir337 microRNA 337 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,705,920...133,706,016
Ensembl chr 6:133,705,920...133,706,016
JBrowse link
G Mir3581 microRNA 3581 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,893,418...133,893,497
Ensembl chr 6:133,893,418...133,893,497
JBrowse link
G Mir370 microRNA 370 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,739,916...133,739,994
Ensembl chr 6:133,739,916...133,739,994
JBrowse link
G Mir377 microRNA 377 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,890,690...133,890,761
Ensembl chr 6:133,890,646...133,890,779
JBrowse link
G Mir381 microRNA 381 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,876,615...133,876,675
Ensembl chr 6:133,876,586...133,876,693
JBrowse link
G Mir409 microRNA 409 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,893,419...133,893,495 JBrowse link
G Mir410 microRNA 410 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,893,997...133,894,072
Ensembl chr 6:133,893,993...133,894,073
JBrowse link
G Mir411 microRNA 411 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,858,849...133,858,924
Ensembl chr 6:133,858,844...133,858,939
JBrowse link
G Mir412 microRNA 412 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,893,571...133,893,640
Ensembl chr 6:133,893,565...133,893,644
JBrowse link
G Mir431 microRNA 431 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,711,425...133,711,538
Ensembl chr 6:133,711,425...133,711,538
JBrowse link
G Mir433 microRNA 433 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,712,334...133,712,426
Ensembl chr 6:133,712,334...133,712,426
JBrowse link
G Mir487b microRNA 487b ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,877,124...133,877,205
Ensembl chr 6:133,877,124...133,877,205
JBrowse link
G Mir494 microRNA 494 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,864,370...133,864,452
Ensembl chr 6:133,864,369...133,864,453
JBrowse link
G Mir496 microRNA 496 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,889,283...133,889,361
Ensembl chr 6:133,889,283...133,889,361
JBrowse link
G Mir541 microRNA 541 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,892,655...133,892,744
Ensembl chr 6:133,892,655...133,892,744
JBrowse link
G Mir544 microRNA 544 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,879,169...133,879,246
Ensembl chr 6:133,879,169...133,879,246
JBrowse link
G Mir665 microRNA 665 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,706,457...133,706,550
Ensembl chr 6:133,706,457...133,706,550
JBrowse link
G Mir770 microRNA 770 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,682,965...133,683,040
Ensembl chr 6:133,682,957...133,683,050
JBrowse link
G Rtl1 retrotransposon-like 1 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:133,710,207...133,721,191 JBrowse link
G Wdr25 WD repeat domain 25 ISO ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14 ClinVar PMID:18176563 NCBI chr 6:132,802,327...132,932,254
Ensembl chr 6:132,805,794...132,932,242
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Kagami-Ogata syndrome 29
Path 2
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Pathologic Processes 6130
        Chromosome Aberrations 1720
          Nondisjunction, Genetic 29
            Uniparental Disomy 29
              Kagami-Ogata syndrome 29
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.