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The Human Phenotype Ontology (HPO) is downloaded weekly from The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at

Term:Abnormality of the face
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Accession:HP:0000271 term browser browse the term
Definition:An abnormality of the face.
Synonyms:exact_synonym: Abnormal face;   Facial abnormality
 narrow_synonym: Disorder of the face
 broad_synonym: Disorder of face;   abnormality of the countenance;   abnormality of the physiognomy;   abnormality of the visage
 related_synonym: Anomaly of face;   Anomaly of the face;   Facial anomaly
 xref: SNOMEDCT_US:118930001;   SNOMEDCT_US:32003007;   SNOMEDCT_US:398206004;   SNOMEDCT_US:398302004;   UMLS:C0266617;   UMLS:C1290857;   UMLS:C4025871

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Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of head or neck 0
        Abnormality of the head 0
          Abnormality of the face 0
            Abnormal facial expression + 0
            Abnormal facial shape + 0
            Abnormal midface morphology + 0
            Abnormality of facial soft tissue + 0
            Abnormality of the chin + 0
            Abnormality of the forehead + 0
            Abnormality of the mouth + 0
            Abnormality of the nose + 0
            Abnormality of the orbital region + 0
            Abnormality of the periorbital region + 0
            Abnormality of the submandibular region + 0
            Craniofacial dysostosis + 0
            Craniofacial hyperostosis + 0
            Tessier cleft + 0
paths to the root