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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		 ClinVar Annotator: match by term: Diastrophic dwarfism | ClinVar Annotator: match by term: Diastrophic dysplasia | ClinVar Annotator: match by term: Sulfate transporter-related osteochondrodysplasia
OMIM:222600
CTD Direct Evidence: marker/mechanism
DNA:deletion, insertion, missense mutations:promoter, cds:c.¿¿¿26 + 2T > C, p.R279W, 1045¿¿¿1047delGTT(human)		 OMIM
ClinVar
MouseDO
CTD
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 21128
    disease of anatomical entity 18211
      endocrine system disease 6775
        Dwarfism 862
          diastrophic dysplasia 1
            Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2304
              Dwarfism 862
                diastrophic dysplasia 1
                  Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 1
paths to the root