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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:diastrophic dysplasia
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Accession:DOID:14687 term browser browse the term
Definition:An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. (DO)
Synonyms:exact_synonym: DTD;   Diastrophic dwarfism
 narrow_synonym: DD DIASTROPHIC DYSPLASIA, BONE-PLATYSPONDYLIC VARIANT
 primary_id: MESH:C536170
 alt_id: OMIM:222600;   RDO:0001640
 xref: GARD:6275;   ICD10CM:Q77.5;   NCI:C156311
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
diastrophic dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Diastrophic dwarfism | ClinVar Annotator: match by term: Diastrophic dysplasia
DNA:deletion, insertion, missense mutations:promoter, cds:c.¿¿¿26 + 2T > C, p.R279W, 1045¿¿¿1047delGTT(human)
OMIM
ClinVar
RGD
PMID:702237 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 More... RGD:13208932, RGD:13208867 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
JBrowse link
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Diastrophic dysplasia, broad bone-platyspondylic variant ClinVar PMID:702237 PMID:8723083 PMID:10466420 PMID:12220459 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      endocrine system disease 6249
        Dwarfism 739
          diastrophic dysplasia 1
            Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      musculoskeletal system disease 7162
        connective tissue disease 4954
          bone disease 3629
            bone development disease 1807
              Dwarfism 739
                diastrophic dysplasia 1
                  Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 1
paths to the root