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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;   interstitial deletion of chromosome 15q24
 primary_id: MESH:C579849
 alt_id: OMIM:613406
 xref: GARD:12219;   ORDO:94065
For additional species annotation, visit the Alliance of Genome Resources.


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chromosome 15q24 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Commd4 COMM domain containing 4 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,833,340...61,836,872
Ensembl chr 8:61,833,326...61,836,945
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,532,465...61,567,510
Ensembl chr 8:61,532,465...61,567,510
JBrowse link
G Imp3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,607,021...61,607,909
Ensembl chr 8:61,607,015...61,608,457
JBrowse link
G Man2c1 mannosidase, alpha, class 2C, member 1 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,805,697...61,816,800
Ensembl chr 8:61,805,677...61,816,800
JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,817,258...61,824,023
Ensembl chr 8:61,817,258...61,823,102
JBrowse link
G Odf3l1 outer dense fiber of sperm tails 3-like 1 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,516,249...61,542,946
Ensembl chr 8:61,516,268...61,519,507
JBrowse link
G Ptpn9 protein tyrosine phosphatase, non-receptor type 9 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,658,851...61,739,458
Ensembl chr 8:61,659,445...61,739,434
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar
OMIM
PMID:18755302, PMID:19557438, PMID:21681106, PMID:25741868, PMID:27399968, PMID:30267900 NCBI chr 8:61,748,590...61,803,314
Ensembl chr 8:61,762,768...61,803,099
JBrowse link
G Snupn snurportin 1 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,614,798...61,654,809
Ensembl chr 8:61,615,650...61,648,390
JBrowse link
G Snx33 sorting nexin 33 ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome ClinVar PMID:18755302, PMID:19557438, PMID:21681106 NCBI chr 8:61,584,656...61,596,055
Ensembl chr 8:61,584,656...61,595,032
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      chromosomal deletion syndrome 868
        chromosome 15q24 deletion syndrome 10
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    chromosome 15q24 deletion syndrome 10
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.