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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


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 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:29979980 NCBI chr 9:79,887,852...79,947,082
Ensembl chr 9:79,887,842...79,947,045 		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:25741868 PMID:31355908 NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      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 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        central nervous system disease 12353
          brain disease 11587
            disease of mental health 8249
              Neurodevelopmental Disorders 6792
                Developmental Disabilities 773
                  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