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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:Cleft Palate, Proliferative Retinopathy, and Developmental Delay
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Accession:DOID:9000539 term browser browse the term
Synonyms:exact_synonym: CPPRDD
 primary_id: OMIM:619074
For additional species annotation, visit the Alliance of Genome Resources.



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Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY ClinVar
OMIM
PMID:30976112 NCBI chr 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    physical disorder 3093
      orofacial cleft 129
        cleft palate 95
          Cleft Palate, Proliferative Retinopathy, and Developmental Delay 1
Path 2
Term Annotations click to browse term
  disease 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        acquired metabolic disease 2896
          carbohydrate metabolism disease 1801
            glucose metabolism disease 1801
              diabetes mellitus 1407
                type 2 diabetes mellitus 729
                  diabetic angiopathy 162
                    diabetic retinopathy 130
                      proliferative diabetic retinopathy 15
                        Cleft Palate, Proliferative Retinopathy, and Developmental Delay 1
paths to the root