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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:Gonadal dysgenesis
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Accession:HP:0000133 term browser browse the term
Definition:Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen.
Comment:Gonadal dysgenesis is a genetic condition due to errors in cell division and or alterations in genetic material, leading to complete or partial loss of gonadal development. The development of gonadal dysgenesis begins early either at fertilization or shortly after in the early stages of the embryo and fetus.
Synonyms:exact_synonym: Mixed gonadal dysgenesis;   Pure gonadal dysgenesis
 alt_id: HP:0003243
 xref: SNOMEDCT_US:205681004;   SNOMEDCT_US:38804009;   SNOMEDCT_US:83579008;   SNOMEDCT_US:95219002;   UMLS:C0018051;   UMLS:C0018055;   UMLS:C0687149


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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the genitourinary system 0
        Abnormality of the genital system 0
          Abnormal reproductive system morphology 0
            Abnormal internal genitalia 0
              Gonadal dysgenesis 0
                Gonadal dysgenesis with female appearance, male 0
                Gonadal dysgenesis, male 0
                Streak gonad 0
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