Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:diastrophic dysplasia
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
diastrophic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:7240710
RGD:8554872
RGD:13208932
RGD:13208867
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      endocrine system disease 4789
        Dwarfism 307
          diastrophic dysplasia 1
            Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        connective tissue disease 2761
          bone disease 2210
            bone development disease 980
              Dwarfism 307
                diastrophic dysplasia 1
                  Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.