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ONTOLOGY REPORT - ANNOTATIONS


Term:iridogoniodysgenesis syndrome
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Accession:DOID:0050786 term browser browse the term
Definition:An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene. (DO)
Synonyms:exact_synonym: IGDS;   IRID 2;   iridogoniodysgenesis type 2
 primary_id: RDO:9004922
 xref: ORDO:98634
For additional species annotation, visit the Alliance of Genome Resources.


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iridogoniodysgenesis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:13592920
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:13592920
Iridogoniodysgenesis Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:7240710
RGD:8554872
Iridogoniodysgenesis Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      iridogoniodysgenesis syndrome 2
        Iridogoniodysgenesis Type 1 1
        Iridogoniodysgenesis Type 2 1
        Iridogoniodysgenesis and Skeletal Anomalies 0
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal dominant disease 1092
                iridogoniodysgenesis syndrome 2
                  Iridogoniodysgenesis Type 1 1
                  Iridogoniodysgenesis Type 2 1
                  Iridogoniodysgenesis and Skeletal Anomalies 0
paths to the root