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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 periosteum
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Accession:HP:0040166 term browser browse the term
Synonyms:xref: UMLS:C4073134



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Abnormality of the periosteum term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP ORPHA:313855 HPO NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
Metacarpal periosteal thickening term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KL klotho IAGP OMIM:617994 HPO NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143
JBrowse link
Periosteal thickening of long tubular bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP OMIM:114000 ORPHA:1310 HPO NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP OMIM:167100 HPO NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184
JBrowse link
Periostitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1RN interleukin 1 receptor antagonist IAGP OMIM:612852 HPO NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
Periostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP DNA:deletion, snps, missense mutations:multiple RGD PMID:17924334 RGD:11560486 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP OMIM:614441 HPO NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184
JBrowse link
Subperiosteal bone formation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP OMIM:211900 HPO NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,794,659
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14822
    Phenotypic abnormality 14819
      Abnormality of the musculoskeletal system 4082
        Abnormality of the skeletal system 3354
          Abnormality of the periosteum 7
            Abnormal periosteum morphology + 6
paths to the root