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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:Isodicentric Chromosome 15 Syndrome
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Accession:DOID:9004864 term browser browse the term
Synonyms:exact_synonym: Duplication-Inversion 15q11;   Idic(15);   Inv Dup(15);   Inverted Duplication 15;   Isodicentric Chromosome 15;   Non-Distal Tetrasomy 15q
 primary_id: MESH:C580205;   RDO:0015902


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Isodicentric Chromosome 15 Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23663378 NCBI chr 1:108,268,728...108,381,670
Ensembl chr 1:108,268,776...108,380,917 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23663378 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
G Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23663378 NCBI chr 1:107,627,450...108,247,483
Ensembl chr 1:107,627,390...108,246,763 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Isodicentric Chromosome 15 Syndrome 3
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          chromosomal disease 2728
            Isodicentric Chromosome 15 Syndrome 3
paths to the root