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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:INTERSTITIAL LUNG AND LIVER DISEASE
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Accession:DOID:9002394 term browser browse the term
Definition:An autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood.
Synonyms:exact_synonym: ILLD;   MARS-RELATED DISORDER;   PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND
 primary_id: OMIM:615486
For additional species annotation, visit the Alliance of Genome Resources.


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INTERSTITIAL LUNG AND LIVER DISEASE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Interstitial lung and liver disease ClinVar PMID:28492532 NCBI chr 7:70,612,650...70,620,900
Ensembl chr 7:70,612,103...70,620,890
JBrowse link
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND ClinVar PMID:29573043 NCBI chr 9:84,324,456...84,383,674
Ensembl chr 9:84,324,442...84,383,687
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Interstitial lung and liver disease
ClinVar Annotator: match by term: MARS-Related Disorder
ClinVar
OMIM
PMID:23729695, PMID:24103465, PMID:25741868, PMID:25913036, PMID:28492532, PMID:29775242 NCBI chr 7:70,585,011...70,602,425
Ensembl chr 7:70,585,013...70,602,310
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 0
        liver disease 2413
          INTERSTITIAL LUNG AND LIVER DISEASE 3
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      respiratory system disease 2748
        lower respiratory tract disease 1684
          lung disease 1643
            interstitial lung disease 351
              INTERSTITIAL LUNG AND LIVER DISEASE 3
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.