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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:Amelia
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Accession:HP:0009827 term browser browse the term
Definition:Congenital absence (aplasia) of one or more limbs.
Synonyms:xref: MEDDRA:10001926 "Amelia";   MESH:D004480;   SNOMEDCT_US:62588002;   UMLS:C0002447



show annotations for term's descendants           Sort by:
Amelia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPO2 R-spondin 2 IAGP HPO OMIM:618021 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642
JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO OMIM:601360 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110
JBrowse link
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
Tetraamelia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRRC37A2 leucine rich repeat containing 37 member A2 IAGP ClinVar Annotator: match by term: Tetra-amelia ClinVar NCBI chr17:46,372,792...47,049,128
Ensembl chr17:46,511,508...46,556,910
JBrowse link
G RSPO2 R-spondin 2 IAGP HPO ORPHA:3301 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642
JBrowse link
G WNT3 Wnt family member 3 IAGP ClinVar Annotator: match by term: Tetra-amelia ClinVar
HPO
OMIM:273395 ORPHA:3301 NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21508
    Phenotypic abnormality 21499
      Abnormality of limbs 2570
        Aplasia/hypoplasia of the extremities 723
          Amelia 5
            Amelia involving the lower limbs 1
            Amelia involving the upper limbs 0
            Tetraamelia 3
Path 2
Term Annotations click to browse term
  Human phenotype 21508
    Phenotypic abnormality 21499
      Abnormality of the musculoskeletal system 4392
        Abnormality of the skeletal system 3630
          Abnormal skeletal morphology 3511
            Aplasia/hypoplasia involving the skeleton 1229
              Aplasia/hypoplasia of the extremities 723
                Amelia 5
                  Amelia involving the lower limbs 1
                  Amelia involving the upper limbs 0
                  Tetraamelia 3
paths to the root