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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:anterior segment dysgenesis 4
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Accession:DOID:0080609 term browser browse the term
Definition:An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. (DO)
Synonyms:exact_synonym: ASGD4;   IHGA;   IRID 2;   IRID2;   iridogoniodysgenesis type 2;   iris hypoplasia with early onset glaucoma, autosomal dominant
 primary_id: MESH:C535536
 alt_id: OMIM:137600


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anterior segment dysgenesis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant		 OMIM
CTD
ClinVar		 PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      iridogoniodysgenesis syndrome 2
        anterior segment dysgenesis 4 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              corneal disease 233
                sclerocornea 37
                  anterior segment dysgenesis 34
                    anterior segment dysgenesis 4 1
paths to the root