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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: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
 broad_synonym: ASAH1-RELATED CONDITION
 primary_id: MESH:D055577
 alt_id: MIM:228000
 xref: GARD:6426;   NCI:C84710;   ORDO:333


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Farber lipogranulomatosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:228000
ClinVar Annotator: match by term: ASAH1-related condition | 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
CTD
MouseDO
ClinVar		 PMID:3037247 PMID:8955159 PMID:9128814 PMID:9536098 PMID:10610716 More... NCBI chr16:57,669,927...57,701,349
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 1:50,043,323...50,050,168
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 19139
    Nutritional and Metabolic Diseases 8544
      disease of metabolism 8544
        lipid metabolism disorder 1905
          lipid storage disease 860
            Farber lipogranulomatosis 2
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          brain disease 11857
            Metabolic Brain Diseases 1517
              Metabolic Brain Diseases, Inborn 1384
                Lysosomal Storage Diseases, Nervous System 185
                  sphingolipidosis 154
                    Farber lipogranulomatosis 2
paths to the root