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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:Mesoaxial foot polydactyly
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Accession:HP:0010112 term browser browse the term
Definition:The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.
Synonyms:exact_synonym: Central polydactyly of feet
 xref: UMLS:C4021333


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Mesoaxial foot polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA5 gap junction protein alpha 5 IAGP HPO MIM:612474 NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362 		JBrowse link
G GJA8 gap junction protein alpha 8 IAGP HPO MIM:612474 NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:146510 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:488232 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G RAB34 RAB34, member RAS oncogene family IAGP HPO MIM:620718 NCBI chr17:28,714,281...28,718,428
Ensembl chr17:28,714,281...28,718,429 		JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP HPO ORPHA:46627 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 74032
    Phenotypic abnormality 73727
      Abnormality of limbs 3148
        Abnormality of the lower limb 2185
          Abnormal lower limb bone morphology 847
            Duplication involving bones of the feet 143
              Foot polydactyly 139
                Mesoaxial foot polydactyly 6
                  Polydactyly affecting the 2nd toe 0
                  Polydactyly affecting the 3rd toe 0
                  Polydactyly affecting the 4th toe 0
Path 2
Term Annotations click to browse term
  Human phenotype 74032
    Phenotypic abnormality 73727
      Abnormality of the musculoskeletal system 9766
        Abnormality of the skeletal system 8650
          Abnormal skeletal morphology 8066
            Abnormal appendicular skeleton morphology 2150
              Abnormal limb bone morphology 1983
                Abnormal lower limb bone morphology 847
                  Duplication involving bones of the feet 143
                    Foot polydactyly 139
                      Mesoaxial foot polydactyly 6
                        Polydactyly affecting the 2nd toe 0
                        Polydactyly affecting the 3rd toe 0
                        Polydactyly affecting the 4th toe 0
paths to the root