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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 15q26-qter deletion syndrome
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Accession:DOID:0060397 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia. (DO)
Synonyms:exact_synonym: 15q26 deletion syndrome;   Drayer Syndrome;   distal 15q deletion syndrome;   distal monosomy 15q;   telomeric 15q deletion syndrome
 primary_id: MESH:C567232
 alt_id: OMIM:612626;   RDO:0015364
 xref: ORDO:1596
For additional species annotation, visit the Alliance of Genome Resources.


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chromosome 15q26-qter deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:127,802,872...128,126,764
Ensembl chr 1:127,802,978...128,124,171
JBrowse link
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:127,302,920...127,337,828
Ensembl chr 1:127,301,128...127,337,882
JBrowse link
G Asb7 ankyrin repeat and SOCS box-containing 7 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:127,545,671...127,599,257
Ensembl chr 1:127,554,785...127,599,257
JBrowse link
G Cers3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:127,706,618...127,781,041
Ensembl chr 1:127,648,234...127,781,017
JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:127,010,587...127,071,570
Ensembl chr 1:127,010,588...127,071,570
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:127,599,647...127,625,583
Ensembl chr 1:127,604,197...127,625,577
JBrowse link
G Lrrc28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:128,486,164...128,604,190
Ensembl chr 1:128,486,166...128,604,188
JBrowse link
G Lrrk1 leucine-rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:127,166,866...127,301,053
Ensembl chr 1:127,166,431...127,292,090
JBrowse link
G Lysmd4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:128,199,100...128,204,989
Ensembl chr 1:128,199,322...128,203,268
JBrowse link
G Mef2a myocyte enhancer factor 2a ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:128,207,715...128,341,681
Ensembl chr 1:128,209,971...128,341,263
JBrowse link
G Pgpep1l pyroglutamyl-peptidase I-like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:129,216,221...129,244,664
Ensembl chr 1:129,216,152...129,217,058
JBrowse link
G Synm synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:128,692,112...128,722,048
Ensembl chr 1:128,692,112...128,722,048
JBrowse link
G Ttc23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:128,604,324...128,687,900
Ensembl chr 1:128,606,770...128,687,893
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    syndrome 8039
      chromosomal deletion syndrome 1003
        chromosome 15q26-qter deletion syndrome 14
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          monogenic disease 7122
            autosomal genetic disease 6276
              autosomal dominant disease 4456
                complex cortical dysplasia with other brain malformations 1193
                  Malformations of Cortical Development, Group I 1053
                    microcephaly 897
                      chromosome 15q26-qter deletion syndrome 14
paths to the root