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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 11 52,283,680 52,339,247 RGD:7240710
RGD:9068941
G SPAG8 sperm associated antigen 8 JBrowse link 11 52,339,338 52,341,642 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12015
    disease of anatomical entity 11666
      musculoskeletal system disease 3781
        bone disease 1814
          spinal disease 135
            acromesomelic dysplasia, Maroteaux type 2
Path 2
Term Annotations click to browse term
  disease 12015
    disease of anatomical entity 11666
      musculoskeletal system disease 3781
        connective tissue disease 2336
          bone disease 1814
            bone development disease 978
              osteochondrodysplasia 401
                acromesomelic dysplasia 4
                  acromesomelic dysplasia, Maroteaux type 2
paths to the root

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