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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:Abnormality of the tibial metaphysis
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Accession:HP:0006491 term browser browse the term
Synonyms:broad_synonym: Abnormality of the wide portion of shankbone;   Abnormality of the wide portion of shinbone
 xref: UMLS:C4025038



show annotations for term's descendants           Sort by:
 
Abnormality of the tibial metaphysis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHEK2 checkpoint kinase 2 IAGP ORPHA:668 HPO NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ORPHA:668 HPO NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G TP53 tumor protein p53 IAGP ORPHA:668 HPO NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
Peg-like central prominence of distal tibial metaphyses term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP OMIM:300232 HPO NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14838
    Phenotypic abnormality 14835
      Abnormality of limbs 2378
        Abnormality of the lower limb 1758
          Abnormality of lower-limb metaphyses 22
            Abnormality of the tibial metaphysis 4
              Broad tibial metaphyses 0
              Peg-like central prominence of distal tibial metaphyses 1
Path 2
Term Annotations click to browse term
  Human phenotype 14838
    Phenotypic abnormality 14835
      Abnormality of the musculoskeletal system 4085
        Abnormality of the skeletal system 3357
          Abnormal skeletal morphology 3237
            Abnormal appendicular skeleton morphology 1844
              Abnormality of limb bone morphology 1718
                Abnormal lower limb bone morphology 760
                  Abnormality of tibia morphology 92
                    Abnormality of the tibial metaphysis 4
                      Broad tibial metaphyses 0
                      Peg-like central prominence of distal tibial metaphyses 1
paths to the root