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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:Aphalangy of the hands
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Accession:HP:0005886 term browser browse the term
Definition:Absence of a digit or of one or more phalanges of a finger.
Synonyms:xref: UMLS:C4025114


show annotations for term's descendants           Sort by:
Aphalangy of the hands term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RECQL4 RecQ like helicase 4 IAGP HPO MIM:218600 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of limbs 3278
        Abnormality of the upper limb 2138
          Abnormality of the hand 1961
            Abnormal finger morphology 1355
              Abnormal finger phalanx morphology 773
                Aplasia/Hypoplasia of the phalanges of the hand 237
                  Aphalangy of the hands 1
                    Aphalangy of hands and feet 0
Path 2
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of the musculoskeletal system 14127
        Abnormality of the skeletal system 10239
          Abnormal skeletal morphology 9727
            Abnormal appendicular skeleton morphology 2220
              Abnormal limb bone morphology 2042
                Abnormal digit morphology 1745
                  Abnormal finger morphology 1355
                    Abnormal finger phalanx morphology 773
                      Aplasia/Hypoplasia of the phalanges of the hand 237
                        Aphalangy of the hands 1
                          Aphalangy of hands and feet 0
paths to the root