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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 2
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Accession:DOID:9001046 term browser browse the term
Definition:Desbuquois dysplasia-2 (DBQD2) is caused by homozygous or compound heterozygous mutation in the XYLT1 gene on chromosome 16p12.
Synonyms:exact_synonym: Baratela-Scott syndrome;   DBQD2
 primary_id: MIM:615777


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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: Baratela-Scott syndrome | ClinVar Annotator: match by term: Desbuquois dysplasia 2 OMIM
ClinVar		 PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 More... NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    physical disorder 5170
      polydactyly 379
        Desbuquois dysplasia 8
          Desbuquois Dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      Skin and Connective Tissue Diseases 7701
        connective tissue disease 5951
          bone disease 4402
            bone inflammation disease 1551
              arthropathy 1530
                Joint Instability 48
                  Desbuquois dysplasia 8
                    Desbuquois Dysplasia 2 1
paths to the root