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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: MIM: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 member 2 ISO ClinVar Annotator: match by term: PULMONARY ALVEOLAR MICROLITHIASIS
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11287838 PMID:16960801 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:57,910,931...57,930,236
Ensembl chr14:57,910,480...57,930,436
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19060
    disease of anatomical entity 18398
      respiratory system disease 5222
        lower respiratory tract disease 2356
          lung disease 2317
            pulmonary alveolar microlithiasis 1
Path 2
Term Annotations click to browse term
  disease 19060
    Nutritional and Metabolic Diseases 8518
      disease of metabolism 8518
        acquired metabolic disease 2527
          mineral metabolism disease 954
            calcium metabolism disease 627
              calcinosis 551
                pulmonary alveolar microlithiasis 1
paths to the root