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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



show annotations for term's descendants           Sort by:
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 HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO OMIM:186200 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 HPO OMIM:186000 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 HPO OMIM:186200 ORPHA:93405 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:93405 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 21554
    Phenotypic abnormality 21544
      Abnormality of limbs 2585
        Abnormality of the upper limb 1824
          Abnormal upper limb bone morphology 462
            Abnormal metacarpal morphology 222
              Supernumerary metacarpal bones 4
                6 metacarpals 3
                Double first metacarpals 0
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
            Abnormal appendicular skeleton morphology 1997
              Abnormal limb bone morphology 1866
                Abnormal upper limb bone morphology 462
                  Abnormal metacarpal morphology 222
                    Supernumerary metacarpal bones 4
                      6 metacarpals 3
                      Double first metacarpals 0
paths to the root