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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:Liberfarb Syndrome
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Accession:DOID:9000377 term browser browse the term
Definition:A progressive disorder involving connective tissue, bone, retina, ear, and brain. Caused by homozygous mutation in the PISD gene on chromosome 22q12. (OMIM)
Synonyms:exact_synonym: LIBF;   PISD-RELATED MITOCHONDRIAL DISEASE;   SEMDLIBF;   spondyloepimetaphyseal dysplasia, Liberfarb type
 primary_id: OMIM:618889


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Liberfarb Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pisd phosphatidylserine decarboxylase ISO ClinVar Annotator: match by term: Liberfarb syndrome | ClinVar Annotator: match by term: PISD-related mitochondrial disease OMIM
ClinVar		 PMID:3561949 PMID:25741868 PMID:28492532 PMID:30488656 PMID:30858161 More... NCBI chr 5:32,893,645...32,943,008
Ensembl chr 5:32,893,645...32,942,990 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    syndrome 10334
      Liberfarb Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      musculoskeletal system disease 7928
        connective tissue disease 5393
          bone disease 3899
            bone development disease 2296
              osteochondrodysplasia 864
                spondyloepimetaphyseal dysplasia 90
                  Liberfarb Syndrome 1
paths to the root