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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:Partial absence of finger
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Accession:HP:0011299 term browser browse the term
Definition:The absence of a phalangeal segment of a finger.
Comment:The part that is absent may be specified. The "distal" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The "proximal" modifier specifies the loss of the proximal or middle phalanx with the nail still present and/or the radiographic finding of a remaining phalanx that is similar to a distal phalanx. It may be difficult to determine which phalanx is absent without x-rays and even then, there are circumstances where the missing bone may not be exactly identified (note that no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective will have to be removed. This finding is distinct from Short fingers.
Synonyms:xref: UMLS:C4023423



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Path 1
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of limbs 0
        Abnormality of the upper limb 0
          Abnormality of the hand 0
            Abnormality of finger 0
              Abnormal finger phalanx morphology 0
                Partial absence of finger 0
Path 2
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the musculoskeletal system 0
        Abnormality of the skeletal system 0
          Abnormal skeletal morphology 0
            Abnormal appendicular skeleton morphology 0
              Abnormality of limb bone morphology 0
                Abnormal digit morphology 0
                  Abnormality of finger 0
                    Abnormal finger phalanx morphology 0
                      Partial absence of finger 0
paths to the root