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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:normophosphatemic familial tumoral calcinosis
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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
 primary_id: MESH:C566473
 alt_id: OMIM:610455
 xref: GARD:10878
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:610455
ClinVar Annotator: match by term: Tumoral calcinosis, familial, normophosphatemic
OMIM
ClinVar
PMID:16960814 PMID:18094730 PMID:25741868 PMID:28346228 PMID:28492532 NCBI chr 4:28,304,967...28,324,637
Ensembl chr 4:28,305,002...28,310,178
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        mineral metabolism disease 433
          calcium metabolism disease 271
            calcinosis 241
              normophosphatemic familial tumoral calcinosis 1
Path 2
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        acquired metabolic disease 2760
          mineral metabolism disease 433
            calcium metabolism disease 271
              calcinosis 241
                normophosphatemic familial tumoral calcinosis 1
paths to the root