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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 1
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Accession:DOID:9007521 term browser browse the term
Definition:Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx. Desbuquois dysplasia-1 (DBQD1) is caused by homozygous or compound heterozygous mutation in the CANT1 gene on chromosome 17q25. (OMIM)
Synonyms:exact_synonym: DBQD1
 primary_id: OMIM:251450

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Desbuquois Dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chrNW_004624782:449,217...590,306
Ensembl chrNW_004624782:449,288...591,310 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chrNW_004624782:590,174...640,576
Ensembl chrNW_004624782:594,511...640,180 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 More... NCBI chrNW_004624801:8,326,928...8,341,231
Ensembl chrNW_004624801:8,326,220...8,341,240 		JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chrNW_004624782:378,772...432,863
Ensembl chrNW_004624782:376,018...397,751 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chrNW_004624782:270,183...373,711
Ensembl chrNW_004624782:270,731...354,838 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chrNW_004624782:236,715...284,200
Ensembl chrNW_004624782:236,735...268,516 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16376579 PMID:16571645 PMID:17576681 PMID:24581741 More... NCBI chrNW_004624782:1,462,888...1,763,267
Ensembl chrNW_004624782:1,462,916...1,757,206 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    physical disorder 4599
      polydactyly 352
        Desbuquois dysplasia 7
          Desbuquois Dysplasia 1 7
Path 2
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      musculoskeletal system disease 7235
        connective tissue disease 4911
          bone disease 3621
            bone inflammation disease 1215
              arthropathy 1195
                Joint Instability 47
                  Desbuquois dysplasia 7
                    Desbuquois Dysplasia 1 7
paths to the root