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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


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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 OMIM
ClinVar		 PMID:25741868 PMID:30976112 NCBI chr 9:10,802,228...10,815,892
Ensembl chr 9:10,802,236...10,815,563 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    physical disorder 4824
      orofacial cleft 151
        cleft palate 114
          Cleft Palate, Proliferative Retinopathy, and Developmental Delay 1
Path 2
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        genetic disease 17158
          inherited metabolic disorder 5434
            carbohydrate metabolic disorder 2679
              glucose metabolism disease 1509
                diabetes mellitus 1365
                  type 2 diabetes mellitus 675
                    diabetic angiopathy 186
                      diabetic retinopathy 153
                        proliferative diabetic retinopathy 30
                          Cleft Palate, Proliferative Retinopathy, and Developmental Delay 1
paths to the root