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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:Spinal dysraphism
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Accession:HP:0010301 term browser browse the term
Definition:A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.
Comment:Spinal dysraphism, or neural tube defect comprises a heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. The anatomic features common to the entire group is an anomaly in the midline structures of the back, especially the absence of some of the neural arches, and defects of the skin, filum terminale, nerves, and spinal cord. Open forms of spinal dysraphism include myelocele, meningocele, and myelomeningocele. These open forms are often associated with hydrocephalus and Arnold-Chiari malformation type II and may be classified as spina bifida aperta. Closed forms of spinal dysraphism include spina bifida occulta.
Synonyms:exact_synonym: Incomplete closure of the vertebral arch
 xref: SNOMEDCT_US:253098009;   UMLS:C0027794

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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
            Abnormal spinal cord morphology 0
              Spinal dysraphism 0
                Myeloschisis 0
                Spina bifida + 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 neural tube morphology 0
              Neural tube defect 0
                Spinal dysraphism 0
                  Myeloschisis 0
                  Spina bifida + 0
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