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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:Stippling of the epiphysis of the distal phalanx of the thumb
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Accession:HP:0009684 term browser browse the term
Definition:The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.
Synonyms:exact_synonym: Speckled calcifications in the end part of the outermost thumb bone
 xref: UMLS:C4024235


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Stippling of the epiphysis of the distal phalanx of the thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO ORPHA:93384 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:93384 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the skeletal system 3652
          Ectopic calcification 252
            Epiphyseal stippling 37
              Epiphyseal stippling of finger phalanges 3
                Stippling of thumb epiphysis 2
                  Stippling of the epiphysis of the distal phalanx of the thumb 2
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the skeletal system 3652
          Abnormal skeletal morphology 3532
            Abnormal appendicular skeleton morphology 1997
              Abnormal long bone morphology 794
                Abnormal epiphysis morphology 282
                  Abnormal limb epiphysis morphology 138
                    Abnormal upper limb epiphysis morphology 62
                      Abnormal hand epiphysis morphology 57
                        Abnormal epiphysis morphology of the phalanges of the hand 42
                          Abnormality of the epiphyses of the distal phalanx of finger 6
                            Stippling of the epiphyses of the distal phalanges of the hand 3
                              Stippling of the epiphysis of the distal phalanx of the thumb 2
paths to the root