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


Term:metatropic dysplasia
go back to main search page
Accession:DOID:0111514 term browser browse the term
Definition:A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11. (DO)
Synonyms:exact_synonym: Metatropic Dwarfism;   metatrophic dysplasia;   metatropic dysplasia 1;   metatropic dysplasia type 1
 primary_id: MESH:C537356
 alt_id: DOID:9003532;   OMIM:156530
 xref: GARD:3571;   ORDO:2635
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
metatropic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 JBrowse link 12 47,698,915 47,737,902 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      endocrine system disease 4819
        Dwarfism 313
          metatropic dysplasia 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      musculoskeletal system disease 5118
        connective tissue disease 3771
          bone disease 3277
            bone development disease 1089
              osteochondrodysplasia 415
                spondyloepimetaphyseal dysplasia 73
                  metatropic dysplasia 1
paths to the root


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