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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:familial tumoral calcinosis
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Accession:EFO:0009385 term browser browse the term
Definition:Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis.
Synonyms:exact_synonym: Orphanet:53715;   http://identifiers.org/medgen/452340;   http://linkedlifedata.com/resource/umls/id/C0263628
 synonym: http://identifiers.org/meddra/10059364
 xref: DOID:0111063;   DOID:9007993;   GARD:10877;   MEDGEN:452340;   MONDO:0018891;   MedDRA:10059364;   ORDO:53715;   UMLS:C0263628
 see_also: https://rarediseases.info.nih.gov/diseases/10877/familial-tumoral-calcinosis" xsd:anyURI {source="GARD:0010877


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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          integumentary system disease 0
            familial tumoral calcinosis 0
              familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome + 0
              normophosphatemic familial tumoral calcinosis 0
              tumoral calcinosis, hyperphosphatemic, familial, 2 0
              tumoral calcinosis, hyperphosphatemic, familial, 3 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          cancer or benign tumor 0
            neoplastic disease or syndrome 0
              neoplasm 0
                endocrine neoplasm 0
                  familial tumoral calcinosis 0
                    familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome + 0
                    normophosphatemic familial tumoral calcinosis 0
                    tumoral calcinosis, hyperphosphatemic, familial, 2 0
                    tumoral calcinosis, hyperphosphatemic, familial, 3 0
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