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ONTOLOGY REPORT - ANNOTATIONS


Term:Mandibuloacral Dysplasia with Type A Lipodystrophy
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Accession:DOID:9003444 term browser browse the term
Synonyms:exact_synonym: Craniomandibular Dermatodysostosis;   Lipodystrophy, type A, associated with mandibuloacral dysplasia;   MADA;   Mandibuloacral Dysplasia with Type A Lipodystrophy, Atypical
 narrow_synonym: CRANIOMANDIBULAR DERMATODYSOSTOSIS MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL;   MANDIBULOACRAL DYSOSTOSIS
 primary_id: MESH:C535705
 alt_id: OMIM:248370;   RDO:0000970
For additional species annotation, visit the Alliance of Genome Resources.


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Mandibuloacral Dysplasia with Type A Lipodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:7240710
RGD:8554872
RGD:12791023
RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:11554173
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      bone development disease 1243
        Acro-Osteolysis 8
          Mandibuloacral Dysplasia with Type A Lipodystrophy 3
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      musculoskeletal system disease 5304
        connective tissue disease 3934
          bone disease 3431
            bone remodeling disease 424
              bone resorption disease 349
                Osteolysis 23
                  Acro-Osteolysis 8
                    Mandibuloacral Dysplasia with Type A Lipodystrophy 3
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.