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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:Abnormal periosteum morphology
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Accession:HP:0030313 term browser browse the term
Definition:An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.
Synonyms:alt_id: HP:0040166
 xref: UMLS:C4022515


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Abnormal periosteum morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:313855 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 HPO OMIM:617994 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 HPO OMIM:114000 ORPHA:1310 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 HPO OMIM:167100 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 HPO OMIM:612852 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 HPO OMIM:614441 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 COL1A1 collagen type I alpha 1 chain IAGP HPO OMIM:114000 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO OMIM:259775 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP HPO OMIM:211900 NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,794,659 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP HPO OMIM:618188 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21487
    Phenotypic abnormality 21477
      Abnormality of the musculoskeletal system 4433
        Abnormality of the skeletal system 3608
          Abnormal skeletal morphology 3483
            Abnormal bone structure 860
              Abnormal periosteum morphology 8
                Metacarpal periosteal thickening 1
                Metatarsal periosteal thickening 0
                Periosteal thickening of long tubular bones 2
                Periostitis 1
                Periostosis + 2
                Proximal phalangeal periosteal thickening 0
                Subperiosteal bone formation 4
paths to the root