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Pathways

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:Aplasia of the 1st metacarpal
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Accession:HP:0010035 term browser browse the term
Definition:Absent first metacarpal (long bone) of the hand.
Comment: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. {xref="https://orcid.org/0000-0002-0736-9199"}
Synonyms:exact_synonym: Absent 1st long bone of hand;   Absent first metacarpal
 alt_id: HP:0006027
 xref: UMLS:C1838610



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Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of limbs 0
        Abnormality of the upper limb 0
          Abnormal upper limb bone morphology 0
            Abnormal metacarpal morphology 0
              Aplasia/Hypoplasia involving the metacarpal bones 0
                Aplasia/Hypoplasia of the 1st metacarpal 0
                  Aplasia of the 1st metacarpal 0
Path 2
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the musculoskeletal system 0
        Abnormality of the skeletal system 0
          Abnormal skeletal morphology 0
            Abnormal appendicular skeleton morphology 0
              Abnormality of limb bone morphology 0
                Aplasia/hypoplasia involving bones of the extremities 0
                  Aplasia/hypoplasia involving bones of the upper limbs 0
                    Aplasia/hypoplasia involving bones of the hand 0
                      Aplasia/Hypoplasia of fingers 0
                        Aplasia/Hypoplasia of the thumb 0
                          Partial absence of thumb 0
                            Aplasia of the 1st metacarpal 0
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