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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Hajdu-Cheney syndrome
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Accession:DOID:2736 term browser browse the term
Definition:A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in NOTCH2 on chromosome 1p12. (DO)
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
 xref: GARD:508;   NCI:C35545;   NCI:C84745
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Hajdu-Cheney syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by OMIM:102500
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hajdu-Cheney syndrome
PMID:8723560 PMID:8755249 PMID:16773578 PMID:17159511 PMID:21378985 More... NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Hajdu-Cheney syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      Skin and Connective Tissue Diseases 5813
        connective tissue disease 4422
          bone disease 3108
            bone remodeling disease 437
              bone resorption disease 352
                Osteolysis 24
                  Acro-Osteolysis 8
                    Hajdu-Cheney syndrome 1
paths to the root