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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:Farber lipogranulomatosis
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Accession:DOID:0050464 term browser browse the term
Definition:A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition. (DO)
Synonyms:exact_synonym: AC deficiency;   Ceramidase Deficiency;   FRBRL;   Farber Disease;   Farber's Disease;   Farber's diseases;   Farber's lipogranulomatosis;   Farbers Disease;   N-laurylsphingosine deacylase deficiencies;   N-laurylsphingosine deacylase deficiency;   acid ceramidase deficiencies;   acid ceramidase deficiency;   ceramidase deficiencies
 primary_id: MESH:D055577
 alt_id: OMIM:228000
 xref: GARD:6426;   NCI:C84710;   ORDO:333
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
Farber lipogranulomatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar Annotator: match by term: Farber's lipogranulomatosis | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency OMIM
PMID:3037247 PMID:8955159 PMID:9128814 PMID:9536098 PMID:10610716 More... NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10428046 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    Nutritional and Metabolic Diseases 8322
      disease of metabolism 8322
        lipid metabolism disorder 1684
          lipid storage disease 799
            Farber lipogranulomatosis 2
Path 2
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      nervous system disease 14106
        central nervous system disease 12331
          brain disease 11574
            Metabolic Brain Diseases 1448
              Metabolic Brain Diseases, Inborn 1307
                Lysosomal Storage Diseases, Nervous System 165
                  sphingolipidosis 137
                    Farber lipogranulomatosis 2
paths to the root