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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:Abnormality of the proximal phalanx of the 3rd finger
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Accession:HP:0009358 term browser browse the term
Synonyms:exact_synonym: Abnormal innermost bone of middle finger;   Abnormality of proximal middle-finger phalanx
 alt_id: HP:0004167
 xref: UMLS:C4021485


show annotations for term's descendants           Sort by:
Enlarged epiphysis of the proximal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO MIM:113100 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
Hypersegmentation of proximal phalanx of third finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO MIM:113100 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
Partial duplication of the proximal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
Triangular epiphysis of the proximal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO MIM:113100 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
Triangular shaped proximal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP HPO MIM:113100 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 98827
    Phenotypic abnormality 98430
      Abnormality of limbs 3278
        Abnormality of the upper limb 2138
          Abnormality of the hand 1961
            Abnormal finger morphology 1355
              Abnormal 3rd finger morphology 27
                Abnormal 3rd finger phalanx morphology 7
                  Abnormality of the proximal phalanx of the 3rd finger 2
                    Abnormality of the epiphysis of the proximal phalanx of the 3rd finger + 1
                    Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger + 0
                    Broad proximal phalanx of the 3rd finger 0
                    Bullet-shaped proximal phalanx of the 3rd finger 0
                    Curved proximal phalanx of the 3rd finger 0
                    Duplication of the proximal phalanx of the 3rd finger + 1
                    Hypersegmentation of proximal phalanx of third finger 1
                    Osteolytic defects of the proximal phalanx of the 3rd finger 0
                    Patchy sclerosis of the proximal phalanx of the 3rd finger 0
                    Symphalangism affecting the proximal phalanx of the 3rd finger + 0
                    Triangular shaped proximal phalanx of the 3rd finger 1
Path 2
Term Annotations click to browse term
  Human phenotype 98827
    Phenotypic abnormality 98430
      Abnormality of the musculoskeletal system 14153
        Abnormality of the skeletal system 10242
          Abnormal skeletal morphology 9730
            Abnormal appendicular skeleton morphology 2220
              Abnormal limb bone morphology 2042
                Abnormal digit morphology 1745
                  Abnormal finger morphology 1355
                    Abnormal finger phalanx morphology 773
                      Abnormal 3rd finger phalanx morphology 7
                        Abnormality of the proximal phalanx of the 3rd finger 2
                          Abnormality of the epiphysis of the proximal phalanx of the 3rd finger + 1
                          Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger + 0
                          Broad proximal phalanx of the 3rd finger 0
                          Bullet-shaped proximal phalanx of the 3rd finger 0
                          Curved proximal phalanx of the 3rd finger 0
                          Duplication of the proximal phalanx of the 3rd finger + 1
                          Hypersegmentation of proximal phalanx of third finger 1
                          Osteolytic defects of the proximal phalanx of the 3rd finger 0
                          Patchy sclerosis of the proximal phalanx of the 3rd finger 0
                          Symphalangism affecting the proximal phalanx of the 3rd finger + 0
                          Triangular shaped proximal phalanx of the 3rd finger 1
paths to the root