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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:Absent tonsils
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Accession:HP:0030813 term browser browse the term
Definition:Lack of observable tonsillar tissue.
Synonyms:exact_synonym: Hypoplastic tonsils;   Tonsillar hypoplasia
 xref: SNOMEDCT_US:249393008;   SNOMEDCT_US:300277007;   UMLS:C0576999



show annotations for term's descendants           Sort by:
Absent tonsils term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA adenosine deaminase IAGP ORPHA:277 HPO NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP OMIM:602450 HPO NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP ORPHA:276 HPO NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14923
    Phenotypic abnormality 14921
      Abnormality of the immune system 2492
        Abnormality of the lymphatic system 911
          Abnormality of the tonsils 36
            Absent tonsils 3
Path 2
Term Annotations click to browse term
  Human phenotype 14923
    Phenotypic abnormality 14921
      Abnormality of the cardiovascular system 3445
        Abnormality of the vasculature 2170
          Abnormality of the lymphatic system 911
            Abnormality of the tonsils 36
              Absent tonsils 3
paths to the root