Phenotypic variability in siblings with Farber disease.
D000581:Amidohydrolases / Q000172:deficiency*; D055572:Ceramidases; D004796:Clinical Enzyme Tests; D005260:Female; D005270:Femur Head / Q000000981:diagnostic imaging; D014644:Genetic Variation; D006801:Humans; D006811:Humerus / Q000000981:diagnostic imaging; D007223:Infant; D008297:Male; D010641:Phenotype; D011859:Radiography; D013106:Sphingolipidoses / Q000175:diagnosis / Q000235:genetics*
D000581:Amidohydrolases; D055572:Ceramidases