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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:Abnormal hand metaphysis morphology
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Accession:HP:0005923 term browser browse the term
Synonyms:exact_synonym: Abnormalities of the metaphyses of the hand;   Abnormality of the wide portion of the hand bone
 xref: UMLS:C4025108


show annotations for term's descendants           Sort by:
Abnormal hand metaphysis morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL10A1 collagen type X alpha 1 chain IAGP HPO ORPHA:174 NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747 		JBrowse link
Cupped metaphyses of hand bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO MIM:307800 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of limbs 3147
        Abnormality of the upper limb 2085
          Abnormal upper limb metaphysis morphology 17
            Abnormal hand metaphysis morphology 2
              Cupped metaphyses of hand bones 1
Path 2
Term Annotations click to browse term
  Human phenotype 73980
    Phenotypic abnormality 73674
      Abnormality of the musculoskeletal system 9766
        Abnormality of the skeletal system 8651
          Abnormal skeletal morphology 8067
            Abnormal appendicular skeleton morphology 2150
              Abnormal long bone morphology 852
                Abnormal metaphysis morphology 235
                  Abnormal upper limb metaphysis morphology 17
                    Abnormal hand metaphysis morphology 2
                      Cupped metaphyses of hand bones 1
paths to the root