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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:Aplasia/Hypoplasia of the distal phalanx of the 2nd finger
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Accession:HP:0009557 term browser browse the term
Synonyms:exact_synonym: Absent/small outermost index finger bone;   Absent/underdeveloped outermost index finger bone
 xref: UMLS:C4024294



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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 OMIM:616849 HPO NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP OMIM:271700 HPO 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 13454
    Phenotypic abnormality 13451
      Abnormality of limbs 2265
        Abnormality of the upper limb 1623
          Abnormality of the hand 1502
            Abnormality of finger 1139
              Abnormal 2nd finger morphology 30
                Abnormality of the phalanges of the 2nd finger 12
                  Abnormality of the distal phalanx of the 2nd finger 4
                    Aplasia/Hypoplasia of the distal phalanx of the 2nd finger 2
                      Aplasia of the distal phalanx of the 2nd finger 0
                      Short distal phalanx of the 2nd finger 2
Path 2
Term Annotations click to browse term
  Human phenotype 13454
    Phenotypic abnormality 13451
      Abnormality of the musculoskeletal system 3903
        Abnormality of the skeletal system 3210
          Abnormality of skeletal morphology 3095
            Abnormal appendicular skeleton morphology 1768
              Abnormality of limb bone morphology 1656
                Abnormal digit morphology 1456
                  Abnormality of finger 1139
                    Abnormal finger phalanx morphology 709
                      Triangular shaped phalanges of the hand 224
                        Abnormality of the phalanges of the 2nd finger 12
                          Aplasia/Hypoplasia of the phalanges of the 2nd finger 10
                            Aplasia/Hypoplasia of the distal phalanx of the 2nd finger 2
                              Aplasia of the distal phalanx of the 2nd finger 0
                              Short distal phalanx of the 2nd finger 2
paths to the root