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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;   RDO:0012649
 alt_id: OMIM:239200
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY
ClinVar Annotator: match by term: Neonatal severe hyperparathyroidism
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:791660, PMID:1706284, PMID:2211966, PMID:5013415, PMID:6543841, PMID:7054696, PMID:7717399, PMID:7791841, PMID:7916660, PMID:8636323, PMID:8675635, PMID:8702647, PMID:9011580, PMID:9109436, PMID:9253359, PMID:10023897, PMID:10217111, PMID:10912749, PMID:11161843, PMID:11231970, PMID:11248745, PMID:11580999, PMID:11733622, PMID:11807402, PMID:12018449, PMID:12040821, PMID:12052452, PMID:12095982, PMID:12114500, PMID:12239240, PMID:12469911, PMID:12574201, PMID:14508624, PMID:14997007, PMID:15292296, PMID:15531522, PMID:15572418, PMID:15598778, PMID:15751724, PMID:15864123, PMID:15879434, PMID:16497624, PMID:16642557, PMID:17018660, PMID:17117288, PMID:17284438, PMID:17309124, PMID:17320849, PMID:17332735, PMID:17555508, PMID:17698911, PMID:18219222, PMID:18328986, PMID:18680227, PMID:18751724, PMID:18756473, PMID:19423559, PMID:19694204, PMID:19759318, PMID:20164288, PMID:20290361, PMID:20602573, PMID:21289269, PMID:21414629, PMID:21521328, PMID:21645025, PMID:22024717, PMID:22192860, PMID:22422767, PMID:22798347, PMID:23077345, PMID:23764372, PMID:23966241, PMID:24033266, PMID:24133354, PMID:24203066, PMID:24854525, PMID:25091521, PMID:25292184, PMID:25705702, PMID:25741868, PMID:26107257, PMID:26161261, PMID:26166472, PMID:26467025, PMID:26646938, PMID:27157104, PMID:27434672, PMID:27957351, PMID:28492532, PMID:29846619 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Infant, Newborn, Diseases 546
          Hyperparathyroidism, Neonatal Severe Primary 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      endocrine system disease 4987
        parathyroid gland disease 189
          hyperparathyroidism 33
            primary hyperparathyroidism 17
              Hyperparathyroidism, Neonatal Severe Primary 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.