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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 15q13.3 microdeletion syndrome
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Accession:DOID:0060394 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO)
Synonyms:exact_synonym: 15q13.3 microdeletion;   15q13.3 microdeletion syndrome;   chromosome 15q13.3 deletion syndrome
 primary_id: MESH:C567439
 alt_id: OMIM:612001
 xref: GARD:10296;   ORDO:199318
For additional species annotation, visit the Alliance of Genome Resources.


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chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
JBrowse link
G Fan1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome ClinVar NCBI chr 1:125,182,117...125,209,772
Ensembl chr 1:125,181,838...125,209,727
JBrowse link
G Klf13 Kruppel-like factor 13 ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 1:124,772,596...124,803,363
Ensembl chr 1:124,772,596...124,803,363
JBrowse link
G Mir211 microRNA 211 ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome ClinVar NCBI chr 1:125,042,119...125,042,224
Ensembl chr 1:125,042,119...125,042,224
JBrowse link
G Mtmr10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome ClinVar NCBI chr 1:125,124,743...125,175,857
Ensembl chr 1:125,124,743...125,175,857
JBrowse link
G Otud7a OTU deubiquitinase 7A ISO
ISS
ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome
OMIM:612001
ClinVar
MouseDO
NCBI chr 1:124,311,873...124,655,437
Ensembl chr 1:124,625,985...124,653,820
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: 15q13.3 microdeletion syndrome ClinVar NCBI chr 1:124,983,391...125,101,759
Ensembl chr 1:124,983,452...125,099,573
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      chromosomal deletion syndrome 868
        chromosome 15q13.3 microdeletion syndrome 7
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    chromosome 15q13.3 microdeletion syndrome 7
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.