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loading...| Preferred Name |
Farber Lipogranulomatosis |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84710 |
| code |
C84710 |
| DEFINITION |
A very rare autosomal recessive metabolic disorder affecting lipid metabolism. It is caused by mutations in the ASAH1 gene and is characterized by fatty accumulation in the body tissues. Patients develop lipogranulomas in the skin and internal organs, edema and pain in the joints and a hoarse voice. It may be associated with intellectual disability. |
| label |
Farber Lipogranulomatosis |
| Preferred_Name |
Farber Lipogranulomatosis |
| prefixIRI |
C84710 |
| prefLabel |
Farber Lipogranulomatosis |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0268255 |
| subClassOf |