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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 1q21.1 deletion syndrome
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Accession:DOID:0060411 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. (DO)
Synonyms:exact_synonym: 1q21.1 Deletion;   1q21.1 Microdeletion;   1q21.1 contiguous gene deletion;   1q21.1 microdeletion syndrome;   chromosome 1q21.1 deletion syndrome, 1.35-Mb
 related_synonym: monosomy 1q21.1
 primary_id: MESH:C567291
 alt_id: OMIM:612474
 xref: GARD:10813;   ORDO:250989
For additional species annotation, visit the Alliance of Genome Resources.


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chromosome 1q21.1 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:199,284,177...199,305,793
Ensembl chr 2:199,283,909...199,305,799
JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:199,334,644...199,420,083
Ensembl chr 2:199,334,664...199,354,793
JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:199,714,044...199,792,270
Ensembl chr 2:199,716,713...199,771,896
JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:199,796,870...199,823,927
Ensembl chr 2:199,796,881...199,823,927
JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: 1q21.1 Deletion
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868, PMID:28492532 NCBI chr 2:199,162,745...199,184,942
Ensembl chr 2:199,162,745...199,184,939
JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: 1q21.1 Deletion
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
JBrowse link
G Gpr89b G protein-coupled receptor 89B ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:198,999,945...199,038,702
Ensembl chr 2:198,999,946...199,038,702
JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: 1q21.1 Deletion ClinVar NCBI chr 2:199,831,990...199,847,623
Ensembl chr 2:199,831,990...199,847,629
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      chromosomal deletion syndrome 868
        chromosome 1q21.1 deletion syndrome 8
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    Macrocephaly 84
                      chromosome 1q21.1 deletion syndrome 8
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.