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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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      respiratory system disease 5241
        lower respiratory tract disease 2357
          lung disease 2318
            pulmonary alveolar microlithiasis 1
Path 2
Term Annotations click to browse term
  disease 19099
    Nutritional and Metabolic Diseases 8520
      disease of metabolism 8520
        acquired metabolic disease 2529
          mineral metabolism disease 955
            calcium metabolism disease 627
              calcinosis 551
                pulmonary alveolar microlithiasis 1
paths to the root