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
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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
Anterior Segment Dysgenesis 3 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
Anterior Segment Dysgenesis 4 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 14920
    syndrome 4714
      iridogoniodysgenesis syndrome 2
        Anterior Segment Dysgenesis 3 1
        Anterior Segment Dysgenesis 4 1
        Iridogoniodysgenesis and Skeletal Anomalies 0
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          monogenic disease 3222
            autosomal genetic disease 2160
              autosomal dominant disease 1111
                iridogoniodysgenesis syndrome 2
                  Anterior Segment Dysgenesis 3 1
                  Anterior Segment Dysgenesis 4 1
                  Iridogoniodysgenesis and Skeletal Anomalies 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.