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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Renal angiomyolipoma
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Accession:HP:0006772 term browser browse the term
Definition:A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.
Comment:Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements.
Synonyms:exact_synonym: Angiomyolipoma;   Kidney angiomyolipoma
 alt_id: HP:0100873
 xref: NCI:C3734;   SNOMEDCT_US:254921004;   UMLS:C0241961


show annotations for term's descendants           Sort by:
Renal angiomyolipoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO MIM:610755 ORPHA:276152 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G IFNG interferon gamma IAGP HPO MIM:613254 ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G MVK mevalonate kinase IAGP HPO MIM:260920 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO MIM:191100 ORPHA:538 ORPHA:805 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO MIM:613254 ORPHA:538 ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Neoplasm 16244
        Neoplasm by histology 2149
          Hamartoma 69
            Renal hamartoma 7
              Renal angiomyolipoma 5
Path 2
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of the genitourinary system 10610
        Abnormality of the urinary system 3931
          Abnormality of the upper urinary tract 2941
            Abnormality of the kidney 2876
              Renal neoplasm 302
                Renal hamartoma 7
                  Renal angiomyolipoma 5
paths to the root