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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 1
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Accession:DOID:0080606 term browser browse the term
Definition:An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES;   ASGD1
 primary_id: OMIM:107250
For additional species annotation, visit the Alliance of Genome Resources.



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anterior segment dysgenesis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:17893665 PMID:27218149 PMID:28492532 NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
JBrowse link
G Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:9620774 PMID:15286169 PMID:17888164 PMID:21836522 PMID:24555714 More... NCBI chr 1:245,018,535...245,147,052
Ensembl chr 1:245,018,568...245,147,042
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Pitx3 paired-like homeodomain 3 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES
ClinVar Annotator: match by term: Anterior segment dysgenesis 1
ClinVar
OMIM
PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 More... NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    sensory system disease 5615
      eye disease 2736
        Eye Abnormalities 401
          anterior segment dysgenesis 28
            anterior segment dysgenesis 1 4
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        sensory system disease 5615
          eye disease 2736
            corneal disease 201
              sclerocornea 29
                anterior segment dysgenesis 28
                  anterior segment dysgenesis 1 4
paths to the root