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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)
ClinVar Annotator: match by OMIM:222600
OMIM
ClinVar
PMID:702237 PMID:4644462 PMID:7923357 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723083 PMID:8723100 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10466420 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:12220459 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:17393463 PMID:18708426 PMID:18925670 PMID:20219950 PMID:20301524 PMID:20525296 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:26752647 PMID:27065010 PMID:28492532 PMID:29024831, PMID:10482955, PMID:15703192 RGD:13208932, RGD:13208867 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
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 null ClinVar PMID:702237 PMID:8723083 PMID:10466420 PMID:12220459 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      endocrine system disease 5713
        Dwarfism 488
          diastrophic dysplasia 1
            Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        connective tissue disease 3651
          bone disease 2997
            bone development disease 1326
              Dwarfism 488
                diastrophic dysplasia 1
                  Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 1
paths to the root