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

ONTOLOGY REPORT - ANNOTATIONS


Term:pseudoachondroplasia
go back to main search page
Accession:DOID:0080047 term browser browse the term
Definition:An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. (DO)
Synonyms:exact_synonym: PSACH;   Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome;   Pseudoachondroplastic dysplasia;   Pseudoachondroplastic spondyloepiphyseal dysplasia
 primary_id: MESH:C535819
 alt_id: OMIM:177170;   RDO:0001137
 xref: GARD:4540
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
pseudoachondroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Comp cartilage oligomeric matrix protein JBrowse link 16 20,798,437 20,807,070 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        osteochondrodysplasia 408
          pseudoachondroplasia 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              Dwarfism 308
                achondroplasia 11
                  pseudoachondroplasia 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.