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chromosome 15q13.3 microdeletion syndrome - Ontology Report - Rat Genome Database

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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: MIM:612001
 xref: GARD:10296;   ORDO:199318

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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: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr26:50,554,143...50,686,847
Ensembl chr26:50,551,829...50,686,803 		JBrowse link
G FAN1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr26:51,720,822...51,759,652
Ensembl chr26:51,725,017...51,759,413 		JBrowse link
G KLF13 KLF transcription factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr26:51,308,233...51,359,433
Ensembl chr26:51,313,743...51,359,340 		JBrowse link
G MTMR10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr26:51,670,086...51,723,401
Ensembl chr26:51,670,132...51,724,226 		JBrowse link
G OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr26:50,842,957...51,213,515 JBrowse link
G TRPM1 transient receptor potential cation channel subfamily M member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr26:51,560,992...51,660,857
Ensembl chr26:51,586,041...51,660,171 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    syndrome 10489
      chromosomal deletion syndrome 1593
        chromosome 15q13.3 microdeletion syndrome 6
Path 2
Term Annotations click to browse term
  disease 15417
    disease of anatomical entity 15080
      nervous system disease 13233
        Neurologic Manifestations 9831
          sensory system disease 6943
            eye disease 3575
              visual pathway disease 195
                visual cortex disease 192
                  visual epilepsy 191
                    chromosome 15q13.3 microdeletion syndrome 6
paths to the root