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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 1
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Accession:DOID:9006686 term browser browse the term
Synonyms:exact_synonym: DEVELOPMENTAL DELAY, SMALL STATURE, MICROCEPHALY, AND BRAIN CALCIFICATIONS;   FARSB-RELATED CONDITION;   NEDBLLA;   NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES;   RILDBC1
 primary_id: OMIM:613658

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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: FARSB-related condition | ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications 1 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29979980 NCBI chrNW_004936569:4,524,525...4,604,539
Ensembl chrNW_004936569:4,523,046...4,604,560 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      Rajab Interstitial Lung Disease with Brain Calcifications 2
        Rajab Interstitial Lung Disease with Brain Calcifications 1 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal dominant disease 5828
                complex cortical dysplasia with other brain malformations 1547
                  Malformations of Cortical Development, Group I 1335
                    microcephaly 1105
                      Rajab Interstitial Lung Disease with Brain Calcifications 1 1
paths to the root