Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Amelia involving the lower limbs
go back to main search page
Accession:HP:0009818 term browser browse the term
Definition:Amelia of one or both legs.
Synonyms:xref: UMLS:C4024197



show annotations for term's descendants           Sort by:
Amelia involving the lower limbs term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH11 cadherin 11 IAGP HPO ORPHA:1299 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
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
        Aplasia/hypoplasia of the extremities 727
          Amelia 5
            Amelia involving the lower limbs 1
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
                Aplasia/hypoplasia involving bones of the extremities 679
                  Aplasia/hypoplasia involving bones of the lower limbs 390
                    Amelia involving the lower limbs 1
paths to the root