Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



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
ClinVar Annotator: match by term: PULMONARY ALVEOLAR MICROLITHIASIS
OMIM
ClinVar
PMID:11287838 PMID:16960801 PMID:25741868 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 17445
    disease of anatomical entity 16777
      respiratory system disease 2941
        lower respiratory tract disease 1826
          lung disease 1783
            pulmonary alveolar microlithiasis 1
Path 2
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        acquired metabolic disease 2908
          mineral metabolism disease 571
            calcium metabolism disease 346
              calcinosis 309
                pulmonary alveolar microlithiasis 1
paths to the root