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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:Rajab Interstitial Lung Disease with Brain Calcifications
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Accession:DOID:9001942 term browser browse the term
Synonyms:exact_synonym: RILDBC;   Rajab interstitial lung disease with brain calcifications;   Rajab syndrome
 xref: OMIM:PS613658
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Rajab Interstitial Lung Disease with Brain Calcifications term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications ClinVar PMID:19161147, PMID:25741868, PMID:29573043, PMID:29979980, PMID:30014610 NCBI chr 9:84,324,456...84,383,674
Ensembl chr 9:84,324,442...84,383,687
JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farsb phenylalanyl-tRNA synthetase subunit beta ISO ClinVar Annotator: match by term: Rajab syndrome ClinVar
OMIM
PMID:29979980 NCBI chr 9:84,324,456...84,383,674
Ensembl chr 9:84,324,442...84,383,687
JBrowse link
Rajab Interstitial Lung Disease with Brain Calcifications 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 OMIM
ClinVar
PMID:31355908 NCBI chr19:25,969,255...25,978,777
Ensembl chr19:25,969,255...25,978,776
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Rajab Interstitial Lung Disease with Brain Calcifications 2
        Rajab Interstitial Lung Disease with Brain Calcifications 1 1
        Rajab Interstitial Lung Disease with Brain Calcifications 2 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              Neurodevelopmental Disorders 4619
                Developmental Disabilities 692
                  Rajab Interstitial Lung Disease with Brain Calcifications 2
                    Rajab Interstitial Lung Disease with Brain Calcifications 1 1
                    Rajab Interstitial Lung Disease with Brain Calcifications 2 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.