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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:Hypoplastic distal humeri
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Accession:HP:0005025 term browser browse the term
Definition:Underdevelopment of the distal portion of the humerus.
Synonyms:xref: UMLS:C1968607


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Hypoplastic distal humeri term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD2 frizzled class receptor 2 IAGP HPO MIM:164745 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GPC6 glypican 6 IAGP HPO MIM:258315 ORPHA:93329 NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of limbs 2641
        Abnormality of the upper limb 1854
          Aplasia/hypoplasia involving bones of the upper limbs 579
            Aplasia/hypoplasia of the humerus 33
              Hypoplastic distal humeri 2
Path 2
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of the musculoskeletal system 5574
        Abnormality of the skeletal system 4650
          Abnormal skeletal morphology 4495
            Abnormal appendicular skeleton morphology 2015
              Abnormal limb bone morphology 1878
                Aplasia/hypoplasia involving bones of the extremities 696
                  Aplasia/hypoplasia involving bones of the upper limbs 579
                    Aplasia/hypoplasia of the humerus 33
                      Hypoplastic distal humeri 2
paths to the root