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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 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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  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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