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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:Osteopetrosis
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Accession:HP:0011002 term browser browse the term
Definition:Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.
Synonyms:exact_synonym: Harder, denser, fracture-prone bones
 related_synonym: Albers-Schoenberg disease;   Albers-Schonberg disease;   Albers-Schönberg disease;   Marble bone disease
 xref: SNOMEDCT_US:1926006;   SNOMEDCT_US:367489004;   UMLS:C0029454


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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the musculoskeletal system 0
        Abnormality of the skeletal system 0
          Abnormal skeletal morphology 0
            Abnormal bone structure 0
              Abnormal bone ossification 0
                Abnormality of bone mineral density 0
                  Increased bone mineral density 0
                    Osteopetrosis 0
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