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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
For additional species annotation, visit the Alliance of Genome Resources.


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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: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, LIBERFARB TYPE
ClinVar
OMIM
PMID:3561949, PMID:30488656, PMID:30858161, PMID:31263216 NCBI chr14:83,298,630...83,347,697
Ensembl chr14:83,298,674...83,346,738
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      Liberfarb Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      musculoskeletal system disease 5713
        connective tissue disease 4072
          bone disease 3527
            bone development disease 1330
              osteochondrodysplasia 435
                spondyloepimetaphyseal dysplasia 75
                  Liberfarb Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.