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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 2
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Accession:DOID:0061135 term browser browse the term
Definition:A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC34A1 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: HCINF2;   Hypercalcemia, Infantile, 2
 alt_id: DOID:9000264
 xref: MIM:616963;   MONDO:0014851


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infantile hypercalcemia 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 OMIM
ClinVar		 PMID:9536098 PMID:12324554 PMID:16199547 PMID:16688119 PMID:17576681 More... NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,224,010...9,238,983 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Nutritional and Metabolic Diseases 4637
      disease of metabolism 4637
        inherited metabolic disorder 3387
          infantile hypercalcemia 2 1
Path 2
Term Annotations click to browse term
  disease 14566
    Nutritional and Metabolic Diseases 4637
      disease of metabolism 4637
        acquired metabolic disease 1718
          mineral metabolism disease 267
            calcium metabolism disease 183
              hypercalcemia 22
                Infantile Hypercalcemia 3
                  infantile hypercalcemia 2 1
paths to the root