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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 fetal nasal bone visualization
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Accession:HP:0025705 term browser browse the term
Definition:Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age.

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Abnormal fetal nasal bone visualization term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA1 GATA binding protein 1 IAGP OMIM:190685 HPO NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311
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Term Annotations click to browse term
  Human phenotype 14838
    Phenotypic abnormality 14835
      Abnormality of prenatal development or birth 1154
        Fetal anomaly 572
          Abnormal fetal morphology 295
            Abnormal fetal skeletal morphology 2
              Abnormal fetal nasal bone visualization 1
                Absent fetal nasal bone 0
                Hypoplastic nasal bone 0
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