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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:Chromosome 3, Monosomy 3p25
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Accession:DOID:9003129 term browser browse the term
Synonyms:exact_synonym: Deletion 3p25;   Monosomy 3p25
 primary_id: MESH:C536807;   RDO:0002499


show annotations for term's descendants           Sort by:
Chromosome 3, Monosomy 3p25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav3 caveolin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G Oxtr oxytocin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Srgap3 SLIT-ROBO Rho GTPase activating protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21082655 NCBI chr 4:145,839,369...146,070,556
Ensembl chr 4:145,840,078...146,070,575 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    Developmental Disease 18429
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18284
        genetic disease 18227
          chromosomal disease 2812
            Chromosome Deletion 1505
              Chromosome 3, Monosomy 3p25 3
Path 2
Term Annotations click to browse term
  disease 21108
    Pathological Conditions, Signs and Symptoms 13291
      Pathologic Processes 8000
        Chromosome Aberrations 2625
          Aneuploidy 1782
            Monosomy 1505
              Chromosome Deletion 1505
                Chromosome 3, Monosomy 3p25 3
paths to the root