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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 proximal phalanx of thumb
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Accession:HP:0009638 term browser browse the term
Definition:Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Synonyms:exact_synonym: Hypoplastic/small proximal phalanx of the thumb;   Short proximal phalanges of thumb;   Short proximal thumb bone;   Short proximal thumb phalanx
 alt_id: HP:0004079;   HP:0006073
 xref: UMLS:C1855091


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Short proximal phalanx of 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 HPO OMIM:616849 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448 		JBrowse link
G ERI1 exoribonuclease 1 IAGP HPO OMIM:620662 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G IHH Indian hedgehog signaling molecule IAGP HPO OMIM:112500 OMIM:607778 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of limbs 2585
        Abnormality of the upper limb 1824
          Abnormality of the hand 1655
            Abnormal hand morphology 1090
              Short finger 316
                Short middle phalanx of finger 51
                  Short proximal phalanx of thumb 3
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the skeletal system 3652
          Abnormal skeletal morphology 3532
            Aplasia/hypoplasia involving the skeleton 1235
              Aplasia/hypoplasia of the extremities 727
                Aplasia/hypoplasia involving bones of the extremities 679
                  Aplasia/hypoplasia involving bones of the upper limbs 565
                    Aplasia/hypoplasia involving bones of the hand 530
                      Aplasia/Hypoplasia of fingers 359
                        Short finger 316
                          Short thumb 122
                            Short phalanx of the thumb 34
                              Short proximal phalanx of thumb 3
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