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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:Hyperparathyroidism 4
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Accession:DOID:9003143 term browser browse the term
Synonyms:exact_synonym: HRPT4
 primary_id: OMIM:617343


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Hyperparathyroidism 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcm2 glial cells missing transcription factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperparathyroidism 4		 OMIM
CTD
ClinVar		 PMID:15728199 PMID:15863676 PMID:18182452 PMID:21642377 PMID:25741868 More... NCBI chr17:23,652,637...23,661,754
Ensembl chr17:23,652,637...23,661,754 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      endocrine system disease 6821
        parathyroid gland disease 1041
          hyperparathyroidism 33
            Hyperparathyroidism 4 1
paths to the root