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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:Hypercalcemia, Infantile, 1
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Accession:DOID:9007094 term browser browse the term
Synonyms:exact_synonym: CYP24A1-RELATED CONDITION;   HCINF1;   Idiopathic Hypercalcemia of Infancy
 primary_id: MESH:C562581
 alt_id: OMIM:143880


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Hypercalcemia, Infantile, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Hypercalcemia, infantile, 1 OMIM
ClinVar		 PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 More... NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383 		JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Nutritional and Metabolic Diseases 8205
      disease of metabolism 8205
        inherited metabolic disorder 6213
          Hypercalcemia, Infantile, 1 2
Path 2
Term Annotations click to browse term
  disease 21126
    Nutritional and Metabolic Diseases 8205
      disease of metabolism 8205
        acquired metabolic disease 2481
          mineral metabolism disease 918
            calcium metabolism disease 602
              hypercalcemia 52
                Infantile Hypercalcemia 3
                  Hypercalcemia, Infantile, 1 2
paths to the root