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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:Internal anal sphincter achalasia
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Accession:HP:6000018 term browser browse the term
Definition:A disorder of the internal anal sphincter (IAS) in which the IAS fails to relax that manifests clinically as intractable constipation.
Comment:The internal anal sphincter, which is a specialized smooth muscle continuation of the circular muscle layer of rectum, plays a significant role in the maintenance of anorectal continence and in the pathophysiology of incontinence and constipation. Internal anal sphincter achalasia is a clinical condition with presentation similar to Hirschsprung disease but with the presence of ganglion cells on suction rectal biopsy.
Synonyms:exact_synonym: Anal achalasia



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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the digestive system 0
        Abnormality of digestive system physiology 0
          Abnormal anus physiology 0
            Internal anal sphincter achalasia 0
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