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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:pulmonary alveolar microlithiasis
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Accession:DOID:12117 term browser browse the term
Definition:A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs. (DO)
Synonyms:primary_id: MESH:C562405
 alt_id: OMIM:265100
 xref: GARD:11894;   ICD10CM:J84.02;   ICD9CM:516.2
For additional species annotation, visit the Alliance of Genome Resources.


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pulmonary alveolar microlithiasis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc34a2 solute carrier family 34 (sodium phosphate), member 2 ISO ClinVar Annotator: match by OMIM:265100 OMIM
ClinVar
PMID:11287838 PMID:16960801 NCBI chr 5:53,049,353...53,071,664
Ensembl chr 5:53,038,081...53,071,664
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13468
    disease of anatomical entity 12946
      respiratory system disease 2634
        lung disease 1618
          pulmonary alveolar microlithiasis 1
Path 2
Term Annotations click to browse term
  disease 13468
    Nutritional and Metabolic Diseases 3896
      disease of metabolism 3896
        acquired metabolic disease 2250
          mineral metabolism disease 435
            calcium metabolism disease 275
              calcinosis 244
                pulmonary alveolar microlithiasis 1
paths to the root