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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 Eustachian tube morphology
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Accession:HP:0040115 term browser browse the term
Definition:A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders.
Synonyms:exact_synonym: Abnormality of the Eustachian tube
 alt_id: HP:0040124
 xref: SNOMEDCT_US:204250005;   UMLS:C0262475



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Abnormal Eustachian tube morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:199302 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:199302 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:199302 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:199302 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G WDR26 WD repeat domain 26 IAGP HPO ORPHA:513456 NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21537
    Phenotypic abnormality 21527
      Abnormality of the ear 2542
        Abnormal ear morphology 1702
          Abnormality of the middle ear 663
            Abnormal Eustachian tube morphology 5
              Aplasia of the Eustachian tube 0
              Atresia of the Eustachian tube 0
              Blocked Eustachian tube 0
              Stenosis of the Eustachian tube 0
paths to the root