Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 15q24 deletion syndrome
go back to main search page
Accession:DOID:0060395 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15. (DO)
Synonyms:exact_synonym: 15q24 deletion;   15q24 microdeletion;   15q24 microdeletion syndrome;   SIN3A-RELATED CONDITION;   SIN3A-RELATED INTELLECTUAL DISABILITY SYNDROME;   WITKOS;   Witteveen-Kolk syndrome;   interstitial deletion of chromosome 15q24
 primary_id: MESH:C579849
 alt_id: MIM:613406
 xref: GARD:12219;   ORDO:94065


show annotations for term's descendants           Sort by:
chromosome 15q24 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome | ClinVar Annotator: match by term: Chromosome 15q24 deletion syndrome | ClinVar Annotator: match by term: SIN3A-related condition | ClinVar Annotator: match by term: SIN3A-related intellectual disability syndrome | ClinVar Annotator: match by term: Witteveen-kolk syndrome OMIM
ClinVar		 PMID:25741868 PMID:27399968 PMID:28492532 PMID:30267900 PMID:35144002 NCBI chr 8:66,377,471...66,432,150
Ensembl chr 8:66,381,657...66,434,542 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    syndrome 5304
      chromosomal deletion syndrome 156
        chromosome 15q24 deletion syndrome 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            disease of mental health 3944
              developmental disorder of mental health 2218
                specific developmental disorder 1593
                  intellectual disability 1376
                    chromosome 15q24 deletion syndrome 1
paths to the root