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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:Infantile Hypercalcemia
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Accession:DOID:9005216 term browser browse the term
Synonyms:primary_id: MESH:C562999
 alt_id: RDO:0012466
For additional species annotation, visit the Alliance of Genome Resources.


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Infantile Hypercalcemia 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: Infantile hypercalcemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 3:168,097,484...168,111,920
Ensembl chr 3:168,097,485...168,111,920
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercalcemia, infantile
CTD
ClinVar
PMID:24033266 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
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, PMID:22112808, PMID:23001465, PMID:23293122, PMID:23423976, PMID:23470222, PMID:23485543, PMID:24033266, PMID:24518185, PMID:25194629, PMID:25375986, PMID:25446019, PMID:25741868, PMID:26097993, PMID:26117226, PMID:26214117, PMID:26846157, PMID:27394135, PMID:27798933, PMID:28109821, PMID:28470390, PMID:28492532 NCBI chr 3:168,097,484...168,111,920
Ensembl chr 3:168,097,485...168,111,920
JBrowse link
G Kl Klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Idiopathic hypercalcemia of infancy ClinVar PMID:24033266 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link
Hypercalcemia, Infantile, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypercalcemia, infantile, 2 ClinVar
OMIM
PMID:20466674, PMID:25741868, PMID:26047794, PMID:26787776, PMID:28492532, PMID:28893421 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link

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
          Infantile Hypercalcemia 3
            Hypercalcemia, Infantile, 1 3
            Hypercalcemia, Infantile, 2 1
Path 2
Term Annotations click to browse term
  disease 16096
    Nutritional and Metabolic Diseases 4713
      disease of metabolism 4713
        acquired metabolic disease 2787
          mineral metabolism disease 442
            calcium metabolism disease 272
              hypercalcemia 17
                Infantile Hypercalcemia 3
                  Hypercalcemia, Infantile, 1 3
                  Hypercalcemia, Infantile, 2 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.