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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 distal phalanx of the 2nd finger
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Accession:HP:0009542 term browser browse the term
Synonyms:exact_synonym: Abnormality of terminal index finger phalanx;   Abnormality of the outermost bone of the 2nd finger
 alt_id: HP:0004111;   HP:0004140
 xref: UMLS:C4021449


show annotations for term's descendants           Sort by:
Aplasia of the distal phalanx of the 2nd finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO PMID:20932945 MIM:216340 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP HPO PMID:33139364 MIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
Partial duplication of the distal phalanx of the 2nd 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
Short distal phalanx of the 2nd finger 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 PMID:25758993 MIM:616849 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO PMID:8723097 MIM:271700 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 98856
    Phenotypic abnormality 98459
      Abnormality of limbs 3278
        Abnormality of the upper limb 2138
          Abnormality of the hand 1961
            Abnormal finger morphology 1355
              Abnormal 2nd finger morphology 44
                Abnormality of the phalanges of the 2nd finger 18
                  Abnormality of the distal phalanx of the 2nd finger 6
                    Abnormality of the epiphysis of the distal phalanx of the 2nd finger + 0
                    Aplasia/Hypoplasia of the distal phalanx of the 2nd finger + 4
                    Broad distal phalanx of the 2nd finger 0
                    Bullet-shaped distal phalanx of the 2nd finger 0
                    Curved distal phalanx of the 2nd finger 0
                    Distal/middle symphalangism of 2nd finger 0
                    Duplication of the distal phalanx of the 2nd finger + 2
                    Fractured distal phalanx of manual digit 2 0
                    Osteolytic defects of the distal phalanx of the 2nd finger 0
                    Patchy sclerosis of the distal phalanx of the 2nd finger 0
                    Triangular shaped distal phalanx of the 2nd finger 0
Path 2
Term Annotations click to browse term
  Human phenotype 98856
    Phenotypic abnormality 98459
      Abnormality of the musculoskeletal system 14151
        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 2nd finger morphology 44
                      Abnormality of the phalanges of the 2nd finger 18
                        Abnormality of the distal phalanx of the 2nd finger 6
                          Abnormality of the epiphysis of the distal phalanx of the 2nd finger + 0
                          Aplasia/Hypoplasia of the distal phalanx of the 2nd finger + 4
                          Broad distal phalanx of the 2nd finger 0
                          Bullet-shaped distal phalanx of the 2nd finger 0
                          Curved distal phalanx of the 2nd finger 0
                          Distal/middle symphalangism of 2nd finger 0
                          Duplication of the distal phalanx of the 2nd finger + 2
                          Fractured distal phalanx of manual digit 2 0
                          Osteolytic defects of the distal phalanx of the 2nd finger 0
                          Patchy sclerosis of the distal phalanx of the 2nd finger 0
                          Triangular shaped distal phalanx of the 2nd finger 0
paths to the root