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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS


Term:Dent disease
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Accession:EFO:MONDO:0015612 term browser browse the term
Definition:Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.
Synonyms:exact_synonym: Dent syndrome;   Dent's disease;   X-linked recessive hypercalciuric hypophosphatemic rickets;   X-linked recessive hypophosphatemic rickets;   X-linked recessive nephrolithiasis;   low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis;   renal Fanconi syndrome with nephrocalcinosis and renal stones
 narrow_synonym: Dent disease 1;   Dent disease 2
 related_synonym: Dents disease
 alt_id: MONDO:0015612
 xref: DOID:0050699;   GARD:13105;   MEDGEN:168056;   MESH:D057973;   MIM:PS300009;   MedDRA:10069199;   NCI:C123260;   NORD:1040;   ORDO:1652;   SCTID:444645005;   UMLS:C0878681;   icd11.foundation:1762998355



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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inherited kidney disorder 0
              inherited renal tubular disease 0
                Dent disease 0
                  Dent disease type 1 0
                  Dent disease type 2 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          urinary system disease 0
            kidney disease 0
              renal tubule disease 0
                inherited renal tubular disease 0
                  Dent disease 0
                    Dent disease type 1 0
                    Dent disease type 2 0
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