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ONTOLOGY REPORT - ANNOTATIONS


Term:acromesomelic dysplasia
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Accession:DOID:0080049 term browser browse the term
Definition:An osteochondrodysplasia that has_material_basis_in mesomelia and acromelia, which results_in short limb Dwarfism. (DO)
Synonyms:exact_synonym: acromesomelic dwarfism
 primary_id: MESH:C535658
 alt_id: RDO:0000906
 xref: GARD:6;   ORDO:93437
For additional species annotation, visit the Alliance of Genome Resources.


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acromesomelic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:8554872
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:8554872
G Spag8 sperm associated antigen 8 JBrowse link 5 59,147,412 59,149,625 RGD:8554872
Acromesomelic Dysplasia, Demirhan Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:7240710
RGD:8554872
RGD:11554173
acromesomelic dysplasia, Grebe type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:12487346
RGD:12437083
RGD:12437075
RGD:8554872
acromesomelic dysplasia, Hunter-Thompson type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmpr1b bone morphogenetic protein receptor type 1B JBrowse link 2 247,392,195 247,662,026 RGD:11554173
G Gdf5 growth differentiation factor 5 JBrowse link 3 151,482,672 151,487,129 RGD:7240710
RGD:8554872
acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Npr2 natriuretic peptide receptor 2 JBrowse link 5 59,128,186 59,147,321 RGD:7240710
RGD:8554872
G Spag8 sperm associated antigen 8 JBrowse link 5 59,147,412 59,149,625 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
          acromesomelic dysplasia 4
            Acromesomelic Dysplasia, Campailla-Martinelli Type 0
            Acromesomelic Dysplasia, Demirhan Type 1
            acromesomelic dysplasia, Grebe type 1
            acromesomelic dysplasia, Hunter-Thompson type 2
            acromesomelic dysplasia, Maroteaux type 2
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
                acromesomelic dysplasia 4
                  Acromesomelic Dysplasia, Campailla-Martinelli Type 0
                  Acromesomelic Dysplasia, Demirhan Type 1
                  acromesomelic dysplasia, Grebe type 1
                  acromesomelic dysplasia, Hunter-Thompson type 2
                  acromesomelic dysplasia, Maroteaux type 2
paths to the root

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