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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: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;   iridogoniodysgenesis
 xref: GARD:3026;   MONDO:0011119;   ORDO:98634


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iridogoniodysgenesis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591 		JBrowse link
anterior segment dysgenesis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 3 | ClinVar Annotator: match by term: Glaucoma iridogoniodysplasia, familial
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 More... NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,805,858...32,844,347 		JBrowse link
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 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    syndrome 11437
      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 19150
    Pathological Conditions, Signs and Symptoms 13670
      Signs and Symptoms 11240
        Neurologic Manifestations 10485
          sensory system disease 7403
            eye disease 3738
              uveal disease 242
                iris disease 54
                  iridogoniodysgenesis syndrome 2
                    Iridogoniodysgenesis and Skeletal Anomalies 0
                    anterior segment dysgenesis 3 1
                    anterior segment dysgenesis 4 1
paths to the root