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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 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