Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 1:112,833,941...112,947,482
Ensembl chr 1:112,833,944...112,947,451
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23663378 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23663378 NCBI chr 1:112,158,525...112,812,267
Ensembl chr 1:112,158,519...112,811,936
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Isodicentric Chromosome 15 Syndrome 3
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          chromosomal disease 1719
            Isodicentric Chromosome 15 Syndrome 3
paths to the root

NHLBI Logo

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