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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:Patchy changes of bone mineral density
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Accession:HP:0010658 term browser browse the term
Definition:Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density).
Synonyms:xref: UMLS:C4023754



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Patchy osteosclerosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTAP methylthioadenosine phosphorylase IAGP OMIM:112250 HPO NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651
JBrowse link
G SQSTM1 sequestosome 1 IAGP OMIM:167250 HPO NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078
JBrowse link
G TBCE tubulin folding cofactor E IAGP OMIM:241410 ORPHA:2323 HPO NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
Ensembl chr 1:235,367,360...235,452,443
JBrowse link
Patchy sclerosis of finger phalanx term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 IAGP OMIM:218400 HPO NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
Patchy variation in bone mineral density term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor IAGP OMIM:215140 HPO NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link

Term paths to the root
Path 1
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 bone structure 788
              Abnormal bone ossification 705
                Abnormality of bone mineral density 602
                  Patchy changes of bone mineral density 5
                    Patchy osteosclerosis + 4
                    Patchy reduction of bone mineral density 0
                    Patchy variation in bone mineral density 1
paths to the root