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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 vertebral column and shortening of the limb middle and distal segments. (DO)
Synonyms:exact_synonym: AMDM;   St. Helena dysplasia;   acromesomelic dwarfism Maroteux type
 primary_id: MESH:C535661
 alt_id: OMIM:602875;   RDO:0000909
 xref: GARD:507;   ORDO:40
For additional species annotation, visit the Alliance of Genome Resources.


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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 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        bone disease 2215
          spinal disease 138
            acromesomelic dysplasia, Maroteaux type 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                acromesomelic dysplasia 4
                  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.