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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.

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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 16091
    syndrome 7036
      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 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              Neurodevelopmental Disorders 4520
                Developmental Disabilities 503
                  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