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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: MIM:612474
 xref: GARD:10813;   ORDO:250989


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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: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017 		JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595 		JBrowse link
G Fmo5 flavin containing dimethylaniline monoxygenase 5 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693 		JBrowse link
G Gja5 gap junction protein, alpha 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome		 CTD
ClinVar		 PMID:25741868 PMID:26694549 PMID:28492532 PMID:28827829 PMID:29464339 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Gpr89b G protein-coupled receptor 89B ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584 		JBrowse link
G Prkab2 protein kinase AMP-activated non-catalytic subunit beta 2 ISO ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome ClinVar NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    syndrome 11271
      chromosomal deletion syndrome 1528
        chromosome 1q21.1 deletion syndrome 8
Path 2
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10822
            autosomal genetic disease 10302
              autosomal dominant disease 6647
                complex cortical dysplasia with other brain malformations 1634
                  Malformations of Cortical Development, Group I 1394
                    Macrocephaly 90
                      chromosome 1q21.1 deletion syndrome 8
paths to the root