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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:Partial absence of thumb
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Accession:HP:0009659 term browser browse the term
Definition:The absence of a phalangeal segment of a thumb.
Synonyms:related_synonym: Aplasia of the phalanges of the thumb
 alt_id: HP:0004065
 xref: UMLS:C4020780;   UMLS:C4024255


show annotations for term's descendants           Sort by:
Partial absence of thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIO trio Rho guanine nucleotide exchange factor IAGP HPO ORPHA:476126 NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128 		JBrowse link
Absent proximal phalanx of thumb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:149730 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
Aplasia of the 1st metacarpal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCD2 FA complementation group D2 IAGP HPO OMIM:227646 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO ORPHA:93321 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:93321 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP HPO ORPHA:476126 NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO OMIM:617247 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 16554
    Phenotypic abnormality 16547
      Abnormality of limbs 2537
        Abnormality of the upper limb 1811
          Abnormality of the hand 1647
            Abnormal finger morphology 1248
              Aplasia/Hypoplasia of fingers 357
                Aplasia/Hypoplasia of the thumb 146
                  Partial absence of thumb 8
                    Absent proximal phalanx of thumb 1
                    Aplasia of the 1st metacarpal 7
                    Aplasia of the distal phalanx of the thumb 0
Path 2
Term Annotations click to browse term
  Human phenotype 16554
    Phenotypic abnormality 16547
      Abnormality of the musculoskeletal system 4351
        Abnormality of the skeletal system 3555
          Abnormal skeletal morphology 3432
            Abnormal appendicular skeleton morphology 1942
              Abnormality of limb bone morphology 1813
                Abnormal digit morphology 1589
                  Abnormal finger morphology 1248
                    Abnormal finger phalanx morphology 682
                      Aplasia/Hypoplasia of the phalanges of the hand 226
                        Aplasia/Hypoplasia of the phalanges of the thumb 42
                          Partial absence of thumb 8
                            Absent proximal phalanx of thumb 1
                            Aplasia of the 1st metacarpal 7
                            Aplasia of the distal phalanx of the thumb 0
paths to the root