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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:Short 4th finger
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Accession:HP:0009280 term browser browse the term
Definition:Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger.
Synonyms:exact_synonym: Hypoplastic/small 4th finger;   Short ring finger
 alt_id: HP:0004190;   HP:0006211
 xref: UMLS:C4021502



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Short distal phalanx of the 4th 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 OMIM:271700 HPO NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Short middle phalanx of the 4th finger term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF5 growth differentiation factor 5 IAGP OMIM:615072 HPO NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP OMIM:616738 HPO NCBI chr 3:169,083,506...169,663,781
Ensembl chr 3:169,083,499...169,663,775
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
            Abnormal hand morphology 402
              Short finger 309
                Short 4th finger 3
                  Short distal phalanx of the 4th finger 1
                  Short middle phalanx of the 4th finger 2
                  Short proximal phalanx of the 4th finger 0
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
            Aplasia/hypoplasia involving the skeleton 1153
              Aplasia/hypoplasia of the extremities 724
                Aplasia/hypoplasia involving bones of the extremities 672
                  Aplasia/hypoplasia involving bones of the upper limbs 543
                    Aplasia/hypoplasia involving bones of the hand 511
                      Aplasia/Hypoplasia of fingers 345
                        Aplasia/Hypoplasia of the 4th finger 3
                          Short 4th finger 3
                            Short distal phalanx of the 4th finger 1
                            Short middle phalanx of the 4th finger 2
                            Short proximal phalanx of the 4th finger 0
paths to the root