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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 1 117,537,162 117,612,840 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11860
    syndrome 4625
      Hajdu-Cheney syndrome 1
Path 2
Term Annotations click to browse term
  disease 11860
    disease of anatomical entity 11513
      Skin and Connective Tissue Diseases 3556
        connective tissue disease 2299
          bone disease 1785
            bone remodeling disease 225
              bone resorption disease 156
                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.