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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FARSB-related condition | 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    syndrome 10787
      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 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          monogenic disease 10324
            autosomal genetic disease 9470
              autosomal dominant disease 6224
                complex cortical dysplasia with other brain malformations 1583
                  Malformations of Cortical Development, Group I 1371
                    microcephaly 1122
                      Rajab Interstitial Lung Disease with Brain Calcifications 1 1
paths to the root