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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:Absent humerus
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Accession:HP:0003862 term browser browse the term
Definition:Missing humerus bone associated with congenital failure of development.
Synonyms:exact_synonym: Absent long bone in upper arm;   Aplasia of the humerus;   Aplastic humerus
 xref: UMLS:C2678399


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Absent humerus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP HPO ORPHA:56305 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73834
    Phenotypic abnormality 73529
      Abnormality of limbs 3143
        Abnormality of the upper limb 2079
          Aplasia/hypoplasia involving bones of the upper limbs 579
            Aplasia/hypoplasia of the humerus 33
              Absent humerus 1
Path 2
Term Annotations click to browse term
  Human phenotype 73834
    Phenotypic abnormality 73529
      Abnormality of the musculoskeletal system 9723
        Abnormality of the skeletal system 8530
          Abnormal skeletal morphology 8021
            Abnormal appendicular skeleton morphology 2142
              Abnormal limb bone morphology 1974
                Aplasia/hypoplasia involving bones of the extremities 696
                  Aplasia/hypoplasia involving bones of the upper limbs 579
                    Aplasia/hypoplasia of the humerus 33
                      Absent humerus 1
paths to the root