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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:Abnormal 3rd finger phalanx morphology
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Accession:HP:0009316 term browser browse the term
Definition:Abnormality of the phalanges of the 3rd (middle) finger.
Synonyms:exact_synonym: Abnormality of 3rd finger phalanges;   Abnormality of middle finger phalanges;   Abnormality of the middle finger bones;   Abnormality of the phalanges of the 3rd finger
 alt_id: HP:0004155
 xref: UMLS:C4021494


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Absent middle phalanx of 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP HPO MIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
Aplasia of the distal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP HPO MIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
Complete duplication of the middle 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
Enlarged epiphysis of the middle 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
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 distal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:101400 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO MIM:101400 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		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
Short distal phalanx of the 3rd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO MIM:271700 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:79445 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
Short middle 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 MIM:615072 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
Triangular epiphysis of the middle 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 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 middle 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 95636
    Phenotypic abnormality 95258
      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 distal phalanx of the 3rd finger + 5
                  Abnormality of the middle phalanx of the 3rd finger + 3
                  Abnormality of the proximal phalanx of the 3rd finger + 2
                  Aplasia/Hypoplasia of the phalanges of the 3rd finger + 4
                  Broad phalanges of the 3rd finger + 0
                  Bullet-shaped phalanges of the 3rd finger + 0
                  Curved phalanges of the 3rd finger + 0
                  Duplication of phalanx of 3rd finger + 3
                  Osteolytic defects of the phalanges of the 3rd finger + 0
                  Sclerosis of 3rd finger phalanx + 0
                  Symphalangism of the 3rd finger + 0
                  Triangular shaped phalanges of the 3rd finger + 1
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
                      Abnormal 3rd finger phalanx morphology 7
                        Abnormality of the distal phalanx of the 3rd finger + 5
                        Abnormality of the middle phalanx of the 3rd finger + 3
                        Abnormality of the proximal phalanx of the 3rd finger + 2
                        Aplasia/Hypoplasia of the phalanges of the 3rd finger + 4
                        Broad phalanges of the 3rd finger + 0
                        Bullet-shaped phalanges of the 3rd finger + 0
                        Curved phalanges of the 3rd finger + 0
                        Duplication of phalanx of 3rd finger + 3
                        Osteolytic defects of the phalanges of the 3rd finger + 0
                        Sclerosis of 3rd finger phalanx + 0
                        Symphalangism of the 3rd finger + 0
                        Triangular shaped phalanges of the 3rd finger + 1
paths to the root