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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: Arthrodentoosteodysplasias;   Cheney Syndrome;   HJCYS;   Multicentric Osteolyses;   SFPKS;   Serpentine Fibula-Polycystic Kidney Syndrome;   acroosteolysis with osteoporosis and changes in skull and mandible;   arthrodentoosteodysplasia;   multicentric osteolysis;   serpentine fibula syndrome
 primary_id: MESH:D031845
 alt_id: DOID:9006072;   MESH:C537586;   OMIM:102500;   RDO:0000117;   RDO:0003452
 xref: GARD:508
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 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 14759
    syndrome 4210
      Hajdu-Cheney syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Skin and Connective Tissue Diseases 3888
        connective tissue disease 2568
          bone disease 2114
            bone remodeling disease 416
              bone resorption disease 341
                Osteolysis 21
                  Acro-Osteolysis 7
                    Hajdu-Cheney syndrome 1
paths to the root