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ONTOLOGY REPORT - ANNOTATIONS


Term:Hajdu-Cheney syndrome
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Accession:DOID:2736 term browser browse the term
Definition:Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and skull deformations.
Synonyms:exact_synonym: Cheney syndrome;   HJCYS;   SFPKS;   acroosteolysis with osteoporosis and changes in skull and mandible;   arthrodentoosteodysplasia;   arthrodentoosteodysplasias;   multicentric osteolyses;   multicentric osteolysis;   serpentine fibula syndrome;   serpentine fibula-polycystic kidney syndrome
 primary_id: MESH:D031845
 alt_id: MESH:C537586;   OMIM:102500;   RDO:0000117;   RDO:0003452
 xref: GARD:508;   NCI:C35545;   NCI:C84745
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Hajdu-Cheney syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone remodeling disease 420
              bone resorption disease 346
                Osteolysis 22
                  Acro-Osteolysis 7
                    Hajdu-Cheney syndrome 1
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.