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
Accession: DOID:0060462
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 .
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
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
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
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
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
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