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RGD uses the Human Disease Ontology (DO, 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 OMIM NCBI chr22:12,638,418...12,682,733
Ensembl chr22:30,495,546...30,539,389
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12752
    syndrome 6179
      Liberfarb Syndrome 1
Path 2
Term Annotations click to browse term
  disease 12752
    disease of anatomical entity 12282
      musculoskeletal system disease 5190
        connective tissue disease 3610
          bone disease 3090
            bone development disease 1299
              osteochondrodysplasia 425
                spondyloepimetaphyseal dysplasia 75
                  Liberfarb Syndrome 1
paths to the root


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