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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:Ectrodactyly
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Accession:HP:0100257 term browser browse the term
Definition:A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.
Comment:Hands and feet in one individual might be similarly affected or very diverse and the phenotype is very variable even within families. Penetrance is reduced and some idnividuals have been observed presenting only with unilateral smaller 2nd toe which may be overlooked till a much more severly affected family member is seen.
Synonyms:exact_synonym: Cleft hand;   Lobster claw hand
 xref: MSH:C574275;   SNOMEDCT_US:13624003;   SNOMEDCT_US:81208006;   UMLS:C0265554


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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
            Ectrodactyly 0
              Split foot 0
              Split hand 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
                Ectrodactyly 0
                  Split foot 0
                  Split hand 0
paths to the root