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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
Synonyms:primary_id: MESH:C562405
 alt_id: OMIM:265100;   RDO:0012148
 xref: GARD:11894;   ICD10CM:J84.02;   ICD9CM:516.2
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 OMIM:265100 OMIM
ClinVar
PMID:11287838, PMID:16960801 NCBI chr14:60,257,211...60,276,516
Ensembl chr14:60,256,712...60,276,794
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          pulmonary alveolar microlithiasis 1
Path 2
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        acquired metabolic disease 2788
          mineral metabolism disease 442
            calcium metabolism disease 272
              calcinosis 243
                pulmonary alveolar microlithiasis 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.