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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:Anencephaly
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Accession:HP:0002323 term browser browse the term
Definition:Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development.
Comment:See Figure 3 of PMID:32706613.
Synonyms:exact_synonym: Embryonic anencephaly;   Fetal anencephaly;   Foetal anencephaly
 xref: Fyler:4332;   SNOMEDCT_US:89369001;   UMLS:C0002902


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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 the nervous system 0
        Abnormal nervous system morphology 0
          Morphological central nervous system abnormality 0
            Aplasia/Hypoplasia involving the central nervous system 0
              Aplasia/Hypoplasia of the cerebrum 0
                Anencephaly 0
                  Hydranencephaly 0
Path 2
Term Annotations click to browse term
  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the nervous system 0
        Abnormal nervous system morphology 0
          Morphological central nervous system abnormality 0
            Abnormal brain morphology 0
              Abnormal forebrain morphology 0
                Abnormal cerebral morphology 0
                  Aplasia/Hypoplasia of the cerebrum 0
                    Anencephaly 0
                      Hydranencephaly 0
paths to the root