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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 15q24 deletion syndrome
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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 Cimap1c ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:66,144,726...66,176,985
Ensembl chr 8:57,248,746...57,281,004
JBrowse link
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:57,566,236...57,569,701
Ensembl chr 8:57,566,236...57,569,760
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:66,160,942...66,195,987
Ensembl chr 8:57,264,962...57,300,010
JBrowse link
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:66,235,498...66,236,386
Ensembl chr 8:57,339,496...57,340,414
JBrowse link
G Man2c1 mannosidase, alpha, class 2C, member 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:66,434,480...66,445,649
Ensembl chr 8:57,537,321...57,549,690
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:66,446,106...66,452,844
Ensembl chr 8:57,550,147...57,556,258
JBrowse link
G Ptpn9 protein tyrosine phosphatase, non-receptor type 9 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:66,286,771...66,368,306
Ensembl chr 8:57,391,259...57,470,952
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: 15q24 Microdeletion 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:18755302 PMID:19557438 PMID:21681106 PMID:25741868 PMID:27399968 More... NCBI chr 8:66,377,471...66,432,150
Ensembl chr 8:57,481,573...57,536,192
JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:66,242,940...66,286,651
Ensembl chr 8:57,348,130...57,380,912
JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 8:66,213,133...66,224,926
Ensembl chr 8:57,317,161...57,327,538
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    syndrome 11372
      chromosomal deletion syndrome 1604
        chromosome 15q24 deletion syndrome 10
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            disease of mental health 8454
              developmental disorder of mental health 5648
                specific developmental disorder 4610
                  intellectual disability 4383
                    chromosome 15q24 deletion syndrome 10
paths to the root