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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: HCINF1;   Hypercalcemia, Idiopathic, of Infancy
 primary_id: MESH:C562581
 alt_id: OMIM:143880;   RDO:0012233
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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: Idiopathic hypercalcemia of infancy
ClinVar Annotator: match by term: Hypercalcemia, infantile, 1
ClinVar
OMIM
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
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Idiopathic hypercalcemia of infancy ClinVar PMID:24033266 NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    Nutritional and Metabolic Diseases 5545
      disease of metabolism 5545
        inherited metabolic disorder 2629
          Hypercalcemia, Infantile, 1 3
Path 2
Term Annotations click to browse term
  disease 17240
    Nutritional and Metabolic Diseases 5545
      disease of metabolism 5545
        acquired metabolic disease 2895
          mineral metabolism disease 560
            calcium metabolism disease 339
              hypercalcemia 17
                Infantile Hypercalcemia 3
                  Hypercalcemia, Infantile, 1 3
paths to the root