ONTOLOGY REPORT - ANNOTATIONS


Term:acromesomelic dysplasia, Maroteaux type
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Accession:DOID:0080050 term browser browse the term
Definition:An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb. (DO)
Synonyms:exact_synonym: AMDM;   St. Helena dysplasia;   acromesomelic dwarfism Maroteux type
 primary_id: MESH:C535661
 alt_id: OMIM:602875;   RDO:0000909
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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 14875
    disease of anatomical entity 14051
      endocrine system disease 4668
        Dwarfism 300
          acromesomelic dysplasia 4
            acromesomelic dysplasia, Maroteaux type 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              Dwarfism 300
                acromesomelic dysplasia 4
                  acromesomelic dysplasia, Maroteaux type 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.