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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:Transient Neonatal Hyperparathyroidism
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Accession:DOID:9004047 term browser browse the term
Definition:A disease characterized by interference with placental maternal-fetal calcium transport, causing fetal calcium deficiency resulting in hyperparathyroidism and metabolic bone disease. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties. Postnatal recovery or improvement is observed once calcium is provided orally.
Synonyms:exact_synonym: HRPTTN
 primary_id: OMIM:618188


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Transient Neonatal Hyperparathyroidism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP ClinVar Annotator: match by term: Hyperparathyroidism, transient neonatal OMIM
ClinVar		 PMID:25741868 PMID:25741888 PMID:27296226 PMID:28492532 PMID:28878326 More... NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35753
    disease of anatomical entity 32492
      endocrine system disease 7753
        parathyroid gland disease 1350
          hyperparathyroidism 77
            Transient Neonatal Hyperparathyroidism 1
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