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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;   RDO:0014271
 alt_id: OMIM:610187
For additional species annotation, visit the Alliance of Genome Resources.


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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, multitype 2 ISO ClinVar Annotator: match by OMIM:610187
ClinVar Annotator: match by term: Diaphragmatic hernia 3
OMIM
ClinVar
PMID:14517948 PMID:16103912 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 PMID:25741868 PMID:28492532 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Pathological Conditions, Signs and Symptoms 10189
      Anatomical Pathological Conditions 1990
        enterocele 178
          Diaphragmatic Hernia 110
            Diaphragmatic Hernia 3 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Urogenital Diseases 4320
        Female Urogenital Diseases and Pregnancy Complications 2030
          Female Urogenital Diseases 1731
            female reproductive system disease 1727
              prolapse of female genital organ 178
                enterocele 178
                  Diaphragmatic Hernia 110
                    Diaphragmatic Hernia 3 1
paths to the root