Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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;   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 HAO2 hydroxyacid oxidase 2 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,505,463...56,529,441
Ensembl chr17:56,505,506...56,528,954 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,679,942...56,698,521
Ensembl chr17:56,680,301...56,698,419 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062 		JBrowse link
G LOC100682600 disintegrin and metalloproteinase domain-containing protein 30 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,768,324...56,772,594 JBrowse link
G LOC480786 regenerating islet-derived protein 4 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,728,398...56,772,734 JBrowse link
G NOTCH2 notch receptor 2 ISO 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 chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,806,912...56,833,765 JBrowse link
G TBX15 T-box transcription factor 15 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,079,739...56,190,417
Ensembl chr17:56,081,411...56,204,192 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,229,175...56,322,688
Ensembl chr17:56,229,769...56,322,638 		JBrowse link
G ZNF697 zinc finger protein 697 ISO ClinVar Annotator: match by term: Hajdu-Cheney syndrome ClinVar PMID:28492532 NCBI chr17:56,573,771...56,604,278
Ensembl chr17:56,576,916...56,578,898
Ensembl chr17:56,576,916...56,578,898 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 10115
      Hajdu-Cheney syndrome 10
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 15182
      Skin and Connective Tissue Diseases 6828
        connective tissue disease 5308
          bone disease 3859
            bone remodeling disease 292
              bone resorption disease 185
                Osteolysis 36
                  Acro-Osteolysis 19
                    Hajdu-Cheney syndrome 10
paths to the root