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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;   SULFATE TRANSPORTER-RELATED OSTEOCHONDRODYSPLASIA
 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
ISS
OMIM:222600
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diastrophic dwarfism | ClinVar Annotator: match by term: Diastrophic dysplasia | ClinVar Annotator: match by term: Sulfate transporter-related osteochondrodysplasia
DNA:deletion, insertion, missense mutations:promoter, cds:c.¿¿¿26 + 2T > C, p.R279W, 1045¿¿¿1047delGTT(human)
OMIM
MouseDO
CTD
ClinVar
RGD
PMID:702237 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 More... RGD:13208867, RGD:13208932 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 PMID:20301524 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 21142
    disease of anatomical entity 18190
      endocrine system disease 6730
        Dwarfism 840
          diastrophic dysplasia 1
            Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      musculoskeletal system disease 8236
        connective tissue disease 5731
          bone disease 4242
            bone development disease 2276
              Dwarfism 840
                diastrophic dysplasia 1
                  Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 1
paths to the root