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ONTOLOGY REPORT - ANNOTATIONS


Term:iridogoniodysgenesis syndrome
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Accession:DOID:0050786 term browser browse the term
Definition:An iris 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
 xref: ORDO:98634
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iridogoniodysgenesis syndrome 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:8554872
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
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      iridogoniodysgenesis syndrome 2
        Iridogoniodysgenesis and Skeletal Anomalies 0
        anterior segment dysgenesis 3 1
        anterior segment dysgenesis 4 1
Path 2
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            autosomal genetic disease 4361
              autosomal dominant disease 2728
                iridogoniodysgenesis syndrome 2
                  Iridogoniodysgenesis and Skeletal Anomalies 0
                  anterior segment dysgenesis 3 1
                  anterior segment dysgenesis 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.