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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:Ocular anterior segment dysgenesis
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Accession:HP:0007700 term browser browse the term
Definition:Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.
Comment:In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures.
Synonyms:exact_synonym: Anterior chamber cleavage defect;   Anterior chamber cleavage disorder;   Anterior chamber malformation;   Anterior chamber mesodermal anomalies;   Anterior segment developmental abnormality;   Anterior segment dysgenesis;   Anterior segment mesencyhmal dysgenesis
 alt_id: HP:0007696;   HP:0007699;   HP:0008040
 xref: SNOMEDCT_US:65075004;   UMLS:C0266525


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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of the eye 0
        Abnormal eye morphology 0
          Abnormal anterior eye segment morphology 0
            Ocular anterior segment dysgenesis 0
              Aplasia/Hypoplasia affecting the anterior segment of the eye + 0
              Axenfeld anomaly 0
              Developmental cataract 0
              Developmental glaucoma + 0
              Keratoglobus 0
              Microcoria 0
              Peters anomaly 0
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