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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 17 56,854,825 57,020,157 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12015
    syndrome 4667
      Hajdu-Cheney syndrome 1
Path 2
Term Annotations click to browse term
  disease 12015
    disease of anatomical entity 11666
      Skin and Connective Tissue Diseases 3618
        connective tissue disease 2336
          bone disease 1814
            bone remodeling disease 225
              bone resorption disease 158
                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.