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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:137600
ClinVar Annotator: match by term: Iridogoniodysgenesis, dominant type
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis 4
OMIM
ClinVar
CTD
PMID:7581385, PMID:8942889, PMID:9437321, PMID:9618168, PMID:10502778, PMID:25741868, PMID:28492532, PMID:32499604 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      iridogoniodysgenesis syndrome 2
        anterior segment dysgenesis 4 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            uveal disease 227
              iris disease 55
                iridogoniodysgenesis syndrome 2
                  anterior segment dysgenesis 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.