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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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 the NOTCH2 gene 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
 broad_synonym: NOTCH2-RELATED CONDITION
 primary_id: MESH:D031845
 alt_id: MESH:C537586;   MIM: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 ADAM30 ADAM metallopeptidase domain 30 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 4:101,314,710...101,316,974
Ensembl chr 4:101,314,710...101,316,893
JBrowse link
G HAO2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 4:101,588,510...101,787,818
Ensembl chr 4:101,588,861...101,732,304
JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 4:101,420,941...101,440,302
Ensembl chr 4:101,420,872...101,438,126
JBrowse link
G HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 4:101,565,229...101,574,110 JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Arthrodentoosteodysplasia | ClinVar Annotator: match by term: Cheney syndrome | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar Annotator: match by term: NOTCH2-related condition | ClinVar Annotator: match by term: SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME OMIM
ClinVar
PMID:8723560 PMID:8755249 PMID:9536098 PMID:16199547 PMID:16773578 More... NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195
JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 4:101,445,977...101,478,144
Ensembl chr 4:101,444,693...101,478,144
JBrowse link
G REG4 regenerating family member 4 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 4:101,337,295...101,354,550
Ensembl chr 4:101,337,282...101,357,025
JBrowse link
G TBX15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 4:101,918,891...102,032,280 JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 4:101,787,585...101,881,231
Ensembl chr 4:101,787,583...101,883,070
JBrowse link
G ZNF697 zinc finger protein 697 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr 4:101,520,252...101,552,266
Ensembl chr 4:101,521,763...101,552,753
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15430
    syndrome 10412
      Hajdu-Cheney syndrome 10
Path 2
Term Annotations click to browse term
  disease 15430
    disease of anatomical entity 15099
      Skin and Connective Tissue Diseases 7048
        connective tissue disease 5375
          bone disease 3868
            bone remodeling disease 304
              bone resorption disease 183
                Osteolysis 36
                  Acro-Osteolysis 19
                    Hajdu-Cheney syndrome 10
paths to the root