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HUMAN PHENOTYPE - ANNOTATIONS
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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:
Periosteal thickening of long tubular bones
go back to main search page
Accession:
HP:0006465
browse the term
Definition:
Thickening of the periosteum of long bone.
Synonyms:
xref:
UMLS:C1834345
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Rat (0)
Mouse (0)
Human (2)
Chinchilla (0)
Bonobo (0)
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Squirrel (0)
Pig (0)
Green Monkey (0)
Naked Mole-rat (0)
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Genes (2)
Periosteal thickening of long tubular bones
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
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
Term paths to the root
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Path 1
Term
Annotations
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
Periosteal thickening of long tubular bones
2