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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:Desbuquois dysplasia
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Accession:DOID:0060462 term browser browse the term
Definition:An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. (DO)
Synonyms:exact_synonym: Desbuquois Syndrome;   micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
 narrow_synonym: Desbuquois dysplasia, Kim variant
 primary_id: MESH:C535943
 xref: GARD:1818;   NCI:C124056;   OMIM:PS251450;   ORDO:1425
For additional species annotation, visit the Alliance of Genome Resources.


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Desbuquois dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Desbuquois Dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
JBrowse link
G Xylt1 xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
JBrowse link
Desbuquois Dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 OMIM
ClinVar
PMID:19853239 PMID:20358597 PMID:20358610 PMID:21037275 PMID:21412251 PMID:21654728 PMID:22539336 PMID:25741868 PMID:28492532 PMID:28742282 PMID:31988067 NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:16571645 PMID:16759312 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28462984 PMID:28492532 NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
JBrowse link
Desbuquois Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 2 ClinVar
OMIM
PMID:22711505 PMID:23982343 PMID:24581741 PMID:28462984 PMID:28492532 PMID:30554721 NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      polydactyly 127
        Desbuquois dysplasia 2
          Desbuquois Dysplasia 1 2
          Desbuquois Dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              osteochondrodysplasia 449
                Desbuquois dysplasia 2
                  Desbuquois Dysplasia 1 2
                  Desbuquois Dysplasia 2 1
paths to the root