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:normophosphatemic familial tumoral calcinosis
go back to main search page
Accession:DOID:0080170 term browser browse the term
Definition:A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors. (DO)
Synonyms:exact_synonym: NFTC;   tumoral calcinosis with normophosphatemia
 broad_synonym: familial tumoral calcinosis
 primary_id: MESH:C566473
 alt_id: OMIM:610455
 xref: GARD:10878


show annotations for term's descendants           Sort by:
normophosphatemic familial tumoral calcinosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: CALCINOSIS, TUMORAL, WITH NORMOPHOSPHATEMIA | ClinVar Annotator: match by term: Normophosphatemic familial tumoral calcinosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16960814 PMID:18094730 PMID:25741868 PMID:28346228 PMID:28492532 NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        mineral metabolism disease 919
          calcium metabolism disease 603
            calcinosis 528
              normophosphatemic familial tumoral calcinosis 1
Path 2
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        acquired metabolic disease 2481
          mineral metabolism disease 919
            calcium metabolism disease 603
              calcinosis 528
                normophosphatemic familial tumoral calcinosis 1
paths to the root