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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:papillary renal cell carcinoma
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Accession:EFO:0000640 term browser browse the term
Definition:A rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma. Papillary renal cell carcinoma is a rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma.
Synonyms:exact_synonym: HPRCC;   chromophil carcinoma of kidney;   chromophil carcinoma of the kidney;   chromophil renal cell carcinoma;   papillary (chromophil) renal cell carcinoma;   papillary kidney carcinoma;   papillary renal cell adenocarcinoma;   papillary renal cell cancer;   renal cell carcinoma, papillary, type 1;   sporadic papillary renal cell carcinoma
 related_synonym: RCCP;   RCCP1;   chromophil RCC;   papillary renal carcinoma, malignant - (subtype);   papillary renal cell carcinoma, bilateral - (subtype);   papillary renal cell carcinoma, familial - (subtype);   papillary renal cell carcinoma, multiple - (subtype);   papillary renal cell carcinoma, sporadic - (subtype);   renal adenocarcinoma;   renal cell carcinoma, papillary, 1
 xref: DOID:4465;   GARD:9572;   GARD:9575;   ICD10:C64;   MEDGEN:266300;   MIM:605074;   MONDO:0017884;   NCI:C6975;   ONCOTREE:PRCC;   ORDO:319298;   ORDO:47044;   SCTID:733608000;   UMLS:C1306837;   UMLS:C1336078;   UMLS:CN205129
 external_ontology: has_disease_location EFO:UBERON:0002113
 see_also: https://rarediseases.info.nih.gov/diseases/9572/papillary-renal-cell-carcinoma" xsd:anyURI {source="GARD:0009572


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papillary renal cell carcinoma term browser
Symbol Object Name Evidence rsID P Value LOD Score Notes Source PubMed Reference(s) RGD Reference(s) Position
Q GWAS1221648_H papillary renal cell carcinoma QTL GWAS1221648 (human) IAGP rs9427472 8.0E-9 GWAS_CATALOG PMID:38671320 NCBI chr 1:202,039,789...202,039,790 JBrowse link
Q GWAS1221649_H papillary renal cell carcinoma QTL GWAS1221649 (human) IAGP rs4548504 9.0E-17 GWAS_CATALOG PMID:38671320 NCBI chr 1:204,285,634...204,285,635 JBrowse link
Q GWAS1221650_H papillary renal cell carcinoma QTL GWAS1221650 (human) IAGP rs1396196 3.0E-13 GWAS_CATALOG PMID:38671320 NCBI chr 4:143,274,817...143,274,818 JBrowse link
Q GWAS1221772_H papillary renal cell carcinoma QTL GWAS1221772 (human) IAGP rs3778754 9.0E-10 GWAS_CATALOG PMID:38671320 NCBI chr 7:128,935,498...128,935,499 JBrowse link
Q GWAS1221773_H papillary renal cell carcinoma QTL GWAS1221773 (human) IAGP rs17197593 4.0E-8 GWAS_CATALOG PMID:38671320 NCBI chr12:49,546,847...49,546,848 JBrowse link
Q GWAS1221774_H papillary renal cell carcinoma QTL GWAS1221774 (human) IAGP rs79138295 1.0E-8 GWAS_CATALOG PMID:38671320 NCBI chr17:22,643,570...22,643,571 JBrowse link
Q GWAS1524321_H papillary renal cell carcinoma QTL GWAS1524321 (human) IAGP rs240471 9.0E-14 GWAS_CATALOG PMID:38671320 NCBI chr21:16,389,613...16,389,614 JBrowse link
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Term Annotations click to browse term
  experimental factor 564085
    material property 112173
      disposition 75089
        disease 75006
          cancer or benign tumor 17546
            neoplastic disease or syndrome 17200
              neoplasm 17200
                cancer 13103
                  carcinoma 8660
                    adenocarcinoma 725
                      papillary adenocarcinoma 16
                        papillary renal cell carcinoma 7
                          hereditary papillary renal cell carcinoma 0
Path 2
Term Annotations click to browse term
  experimental factor 564085
    material property 112173
      disposition 75089
        disease 75006
          cancer or benign tumor 17546
            neoplastic disease or syndrome 17200
              neoplasm 17200
                urinary system neoplasm 293
                  kidney neoplasm 286
                    kidney cancer 286
                      renal carcinoma 286
                        renal cell carcinoma 178
                          renal cell adenocarcinoma 85
                            papillary renal cell carcinoma 7
                              hereditary papillary renal cell carcinoma 0
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