Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0152031 (
swollen joints
)
535
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Farber disease caused by acid ceramidase deficiency is characterised by a triad of painful and
swollen joints
, subcutaneous nodules, and laryngeal involvement. A one year old female with overlapping features of the classical and type 5 variants is reported. Sialuria and elevated plasma
chitotriosidase
were unusual findings. A novel mutation of the ASAH 1 gene was detected from DNA extracted from the umbilical stump.
...
PMID:Novel biochemical abnormalities and genotype in Farber disease. 2256 78
