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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, Neonatal Severe Primary
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Accession:DOID:9000874 term browser browse the term
Synonyms:exact_synonym: HYPERPARATHYROIDISM, NEONATAL SEVERE;   NHPT;   NSHPT;   NSPH
 primary_id: MESH:C563375
 alt_id: OMIM:239200
 xref: NCI:C131853


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Hyperparathyroidism, Neonatal Severe Primary term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neonatal severe hyperparathyroidism | ClinVar Annotator: match by term: Neonatal severe primary hyperparathyroidism		 CTD
ClinVar
OMIM		 PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 More... NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Infant, Newborn, Diseases 1239
          Hyperparathyroidism, Neonatal Severe Primary 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      endocrine system disease 6821
        parathyroid gland disease 1041
          hyperparathyroidism 33
            primary hyperparathyroidism 17
              Hyperparathyroidism, Neonatal Severe Primary 1
paths to the root