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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:Premature Chromatid Separation Trait
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Accession:DOID:9007183 term browser browse the term
Synonyms:exact_synonym: PCS;   TOTAL PREMATURE CHROMATID SEPARATION TRAIT
 primary_id: OMIM:176430
 xref: EFO:0009077


show annotations for term's descendants           Sort by:
Premature Chromatid Separation Trait term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP
EXP		 ClinVar Annotator: match by term: Premature chromatid separation trait
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9916837 PMID:11169558 PMID:15475955 PMID:16411201 PMID:18548531 More... NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G BUB1B-PAK6 BUB1B-PAK6 readthrough IAGP ClinVar Annotator: match by term: Premature chromatid separation trait ClinVar PMID:15475955 PMID:18548531 PMID:20516114 PMID:25741868 PMID:28492532 More... NCBI chr15:40,217,428...40,277,487
Ensembl chr15:40,218,500...40,264,890
Ensembl chr15:40,218,500...40,264,890 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    Pathological Conditions, Signs and Symptoms 21490
      Pathologic Processes 13190
        Chromosome Aberrations 6429
          Premature Chromatid Separation Trait 2
paths to the root