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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:Supernumerary metacarpal bones
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Accession:HP:0005917 term browser browse the term
Definition:The presence of more than the normal number of metacarpal bones.
Synonyms:exact_synonym: Extra long bones of hand
 xref: SNOMEDCT_US:91846008;   UMLS:C0545617



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Supernumerary metacarpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLI3 GLI family zinc finger 3 IAGP ORPHA:672 HPO NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP OMIM:186200 HPO NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
JBrowse link
6 metacarpals term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXD13 homeobox D13 IAGP OMIM:186000 HPO NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP OMIM:186200 ORPHA:93405 HPO 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 ORPHA:93405 HPO NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 13454
    Phenotypic abnormality 13451
      Abnormality of limbs 2265
        Abnormality of the upper limb 1623
          Abnormality of the hand 1502
            Abnormality of the metacarpal bones 206
              Supernumerary metacarpal bones 4
                6 metacarpals 3
                Double first metacarpals 0
Path 2
Term Annotations click to browse term
  Human phenotype 13454
    Phenotypic abnormality 13451
      Abnormality of the musculoskeletal system 3903
        Abnormality of the skeletal system 3210
          Abnormality of skeletal morphology 3095
            Abnormal appendicular skeleton morphology 1768
              Abnormality of limb bone morphology 1656
                Abnormal upper limb bone morphology 468
                  Abnormality of the metacarpal bones 206
                    Supernumerary metacarpal bones 4
                      6 metacarpals 3
                      Double first metacarpals 0
paths to the root