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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 NW_004955472 506,351 523,647 RGD:7240710
RGD:9068941
G Spag8 sperm associated antigen 8 JBrowse link NW_004955472 503,286 506,261 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11242
    disease of anatomical entity 10909
      musculoskeletal system disease 3629
        bone disease 1737
          spinal disease 127
            acromesomelic dysplasia, Maroteaux type 2
Path 2
Term Annotations click to browse term
  disease 11242
    disease of anatomical entity 10909
      musculoskeletal system disease 3629
        connective tissue disease 2228
          bone disease 1737
            bone development disease 953
              osteochondrodysplasia 394
                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.