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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:Diaphragmatic Hernia 3
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Accession:DOID:9000460 term browser browse the term
Synonyms:exact_synonym: DIH3
 primary_id: MESH:C565710
 alt_id: OMIM:610187


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Diaphragmatic Hernia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Diaphragmatic hernia 3 OMIM
ClinVar		 PMID:14517948 PMID:16103912 PMID:17568391 PMID:20807224 PMID:21919901 More... NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    physical disorder 4879
      congenital diaphragmatic hernia 67
        Diaphragmatic Hernia 3 1
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 15146
      nervous system disease 13207
        peripheral nervous system disease 4035
          neuropathy 3840
            neuromuscular disease 3016
              muscular disease 2129
                diaphragm disease 122
                  Diaphragmatic Hernia 121
                    congenital diaphragmatic hernia 67
                      Diaphragmatic Hernia 3 1
paths to the root