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;   Multicentric Osteolyses;   SFPKS;   acroosteolysis with osteoporosis and changes in skull and mandible;   arthrodentoosteodysplasia;   arthrodentoosteodysplasias;   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
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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 14875
    syndrome 4220
      Hajdu-Cheney syndrome 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone remodeling disease 418
              bone resorption disease 342
                Osteolysis 21
                  Acro-Osteolysis 7
                    Hajdu-Cheney syndrome 1
paths to the root

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