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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:Tongue telangiectasia
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Accession:HP:0000227 term browser browse the term
Definition:Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.
Synonyms:exact_synonym: Lingual telangiectasia
 related_synonym: Angioectasias of the tongue;   Lingual angioectasias;   Spider veins of the tongue
 xref: UMLS:C4025878;   UMLS:C4280668


show annotations for term's descendants           Sort by:
Tongue telangiectasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 IAGP HPO OMIM:600376 ORPHA:774 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G ENG endoglin IAGP HPO OMIM:187300 ORPHA:774 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658 		JBrowse link
G GDF2 growth differentiation factor 2 IAGP HPO ORPHA:774 NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:774 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of head or neck 3554
        Abnormality of the head 3525
          Abnormality of the face 3119
            Abnormality of the mouth 2413
              Abnormality of the tongue 476
                Abnormal tongue morphology 386
                  Tongue telangiectasia 4
Path 2
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of head or neck 3554
        Abnormality of the head 3525
          Abnormality of the face 3119
            Abnormality of the mouth 2413
              Abnormal oral morphology 2323
                Abnormal oral cavity morphology 2299
                  Abnormal oral mucosa morphology 395
                    Oral cavity telangiectasia 7
                      Tongue telangiectasia 4
paths to the root