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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:Macrodactyly
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Accession:HP:0004099 term browser browse the term
Definition:Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.
Comment:There are no recognized standards for the girth of digits and this finding can vary substantially in the population. This assessment relies on the judgment of the examiner to recognize when the difference between the expected and the observed is significant. The affected digits should be specified. The definition does not mandate the component of the increased size (bone, connective tissue, etc.), but should exclude edema. The requirement that the girth is most, or all, of the digit is intended to distinguish this from broad fingertips. This should be distinguished from Broad fingers or Broad fingertips as the girth is circumferential in macrodactyly, which is not the case for broad fingers or broad fingertips, which are increased only (or predominantly) in their lateral (A/P) width.
Synonyms:exact_synonym: Finger overgrowth;   Megalodactyly
 xref: MEDDRA:10025386 "Macrodactyly";   MSH:C562546;   SNOMEDCT_US:48449000;   UMLS:C0265552



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Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of limbs 0
        Abnormality of limb bone 0
          Abnormality of limb bone morphology 0
            Abnormal digit morphology 0
              Macrodactyly 0
                Macrodactyly of finger 0
                Macrodactyly of toe 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
          Abnormality of skeletal morphology 0
            Abnormal appendicular skeleton morphology 0
              Abnormality of limb bone morphology 0
                Abnormal digit morphology 0
                  Macrodactyly 0
                    Macrodactyly of finger 0
                    Macrodactyly of toe 0
paths to the root