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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:posterior polymorphous corneal dystrophy 3
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Accession:DOID:0110857 term browser browse the term
Definition:A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22. (DO)
Synonyms:exact_synonym: PPCD3
 primary_id: MESH:C563788
 alt_id: OMIM:609141;   RDO:0012957
For additional species annotation, visit the Alliance of Genome Resources.


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posterior polymorphous corneal dystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:12654361, PMID:16252232 NCBI chr17:54,656,627...54,714,920
Ensembl chr17:54,658,463...54,714,914
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            posterior polymorphous corneal dystrophy 3 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          eye disease 2592
            corneal disease 184
              corneal dystrophy 44
                posterior polymorphous corneal dystrophy 6
                  posterior polymorphous corneal dystrophy 3 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.