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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: MIM: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 chrNW_004936470:38,432,894...38,857,656
Ensembl chrNW_004936470:38,432,897...38,857,662 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    physical disorder 4887
      congenital diaphragmatic hernia 64
        Diaphragmatic Hernia 3 1
Path 2
Term Annotations click to browse term
  disease 14615
    disease of anatomical entity 14320
      nervous system disease 12594
        peripheral nervous system disease 4035
          neuropathy 3853
            neuromuscular disease 3033
              muscular disease 2111
                diaphragm disease 116
                  Diaphragmatic Hernia 115
                    congenital diaphragmatic hernia 64
                      Diaphragmatic Hernia 3 1
paths to the root