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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 distal phalanx of the thumb
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Accession:HP:0009650 term browser browse the term
Definition:Hypoplastic (short) distal phalanx of the thumb.
Synonyms:exact_synonym: Hypoplastic terminal thumb phalanx;   Hypoplastic/small distal phalanx of the thumb;   Short outermost bone of the thumb;   Short terminal thumb phalanx;   Small terminal thumb phalanx
 alt_id: HP:0004085;   HP:0004087
 xref: UMLS:C1862313


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Short distal phalanx of the thumb 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...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G FLNA filamin A IAGP ORPHA:1826 HPO NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G GNAS GNAS complex locus IAGP ORPHA:79445 HPO NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP ORPHA:221139 HPO NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP ORPHA:1826 HPO NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP ORPHA:221139 HPO NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PTCH1 patched 1 IAGP OMIM:109400 HPO NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTCH2 patched 2 IAGP OMIM:109400 HPO NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP ORPHA:959 HPO NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP OMIM:109400 HPO NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14923
    Phenotypic abnormality 14921
      Abnormality of limbs 2443
        Abnormality of the upper limb 1738
          Aplasia/hypoplasia involving bones of the upper limbs 542
            Aplasia/hypoplasia involving bones of the hand 509
              Aplasia/Hypoplasia of fingers 338
                Short finger 302
                  Short distal phalanx of finger 115
                    Short distal phalanx of the thumb 10
Path 2
Term Annotations click to browse term
  Human phenotype 14923
    Phenotypic abnormality 14921
      Abnormality of the musculoskeletal system 4172
        Abnormality of the skeletal system 3433
          Abnormal skeletal morphology 3316
            Abnormal appendicular skeleton morphology 1877
              Abnormality of limb bone morphology 1746
                Aplasia/hypoplasia involving bones of the extremities 650
                  Aplasia/hypoplasia involving bones of the upper limbs 542
                    Aplasia/hypoplasia involving bones of the hand 509
                      Aplasia/Hypoplasia of fingers 338
                        Short finger 302
                          Short thumb 117
                            Short phalanx of the thumb 34
                              Short distal phalanx of the thumb 10
paths to the root