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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 morphology of phalanx of the 2nd toe
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Accession:HP:0010324 term browser browse the term
Definition:An anomaly of a phalanx of second toe.
Synonyms:exact_synonym: Abnormality of the 2nd toe bone
 xref: UMLS:C4023903


show annotations for term's descendants           Sort by:
Absent distal phalanx of the 2nd toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP HPO MIM:618658 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281 		JBrowse link
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Aplasia/Hypoplasia of the phalanges of the 2nd toe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:79500 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO ORPHA:79500 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
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 foot morphology 1565
            Abnormal toe morphology 740
              Abnormal toe phalanx morphology 127
                Abnormal morphology of phalanx of the 2nd toe 4
                  Abnormal morphology of the proximal phalanx of the 2nd toe + 1
                  Abnormality of the distal phalanx of the 2nd toe + 2
                  Abnormality of the middle phalanx of the 2nd toe + 0
                  Aplasia/Hypoplasia of the phalanges of the 2nd toe + 4
                  Broad phalanges of the 2nd toe + 0
                  Bullet-shaped 2nd toe phalanx + 0
                  Curved 2nd toe phalanx + 0
                  Duplication of the phalanges of the 2nd toe + 0
                  Osteolytic defects of the phalanges of the 2nd toe + 0
                  Patchy sclerosis of 2nd toe phalanx + 0
                  Second toe symphalangism + 1
                  Triangular shaped phalanges of the 2nd 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 digit morphology 1704
                  Abnormal toe morphology 740
                    Abnormal second toe morphology 15
                      Abnormal morphology of phalanx of the 2nd toe 4
                        Abnormal morphology of the proximal phalanx of the 2nd toe + 1
                        Abnormality of the distal phalanx of the 2nd toe + 2
                        Abnormality of the middle phalanx of the 2nd toe + 0
                        Aplasia/Hypoplasia of the phalanges of the 2nd toe + 4
                        Broad phalanges of the 2nd toe + 0
                        Bullet-shaped 2nd toe phalanx + 0
                        Curved 2nd toe phalanx + 0
                        Duplication of the phalanges of the 2nd toe + 0
                        Osteolytic defects of the phalanges of the 2nd toe + 0
                        Patchy sclerosis of 2nd toe phalanx + 0
                        Second toe symphalangism + 1
                        Triangular shaped phalanges of the 2nd toe + 0
paths to the root