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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:Abnormal facial shape
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Accession:HP:0001999 term browser browse the term
Definition:An abnormal morphology (form) of the face or its components.
Comment:This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised.
Synonyms:exact_synonym: Abnormal morphology of the face;   Distinctive facies;   Dysmorphic facial features;   Dysmorphic facies;   Facial dysmorphism;   Unusual facial appearance;   Unusual facies
 broad_synonym: Deformity of face;   Malformation of face
 related_synonym: Distortion of face;   Funny looking face
 alt_id: HP:0002004;   HP:0002260;   HP:0004643;   HP:0004649;   HP:0004652;   HP:0004655;   HP:0004675;   HP:0005124
 xref: SNOMEDCT_US:248200007;   SNOMEDCT_US:32003007;   SNOMEDCT_US:398206004;   SNOMEDCT_US:398302004;   UMLS:C0266617;   UMLS:C0424503;   UMLS:C1385263;   UMLS:C4072832;   UMLS:C4072833

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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 shape 0
              Bird-like facies 0
              Coarse facial features + 0
              Craniofacial disproportion 0
              Doll-like facies 0
              Elfin facies 0
              Facial asymmetry + 0
              Facial shape deformation + 0
              Flat face 0
              Large face + 0
              Moon facies 0
              Oval face 0
              Round face 0
              Small face + 0
              Square face 0
              Triangular face 0
paths to the root