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ONTOLOGY REPORT - ANNOTATIONS


Term:Acro-Osteolysis
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Accession:DOID:9001402 term browser browse the term
Definition:A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The congenital form exhibits autosomal dominant inheritance; the acquired form is found in workers who handle VINYL CHLORIDE. When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME.
Synonyms:exact_synonym: Acro-Osteolysis Syndrome;   Acro-Osteolysis Syndromes;   Acroosteolysis;   Acroosteolysis Syndrome
 primary_id: MESH:D030981;   RDO:0000912
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Acro-Osteolysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:12880041
G Zmpste24 zinc metallopeptidase STE24 JBrowse link 5 139,982,404 140,015,541 RGD:11554173
Hajdu-Cheney syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch2 notch receptor 2 JBrowse link 2 200,187,184 200,320,403 RGD:7240710
RGD:8554872
RGD:11554173
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsc cathepsin C JBrowse link 1 151,918,514 151,949,979 RGD:7240710
RGD:8554872
RGD:11554173
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
Penttinen-Aula Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdgfrb platelet derived growth factor receptor beta JBrowse link 18 56,364,586 56,406,381 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        Acro-Osteolysis 7
          Acroosteolysis Dominant Type 0
          Hajdu-Cheney syndrome 1
          Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 1
          Mandibuloacral Dysplasia with Type A Lipodystrophy 2
          Penttinen-Aula Syndrome 1
          Van Bogaert-Hozay Syndrome 0
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 remodeling disease 420
              bone resorption disease 346
                Osteolysis 22
                  Acro-Osteolysis 7
                    Acroosteolysis Dominant Type 0
                    Hajdu-Cheney syndrome 1
                    Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 1
                    Mandibuloacral Dysplasia with Type A Lipodystrophy 2
                    Penttinen-Aula Syndrome 1
                    Van Bogaert-Hozay Syndrome 0
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.