Farber lipogranulomatosis
A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.
MONDO:0019296
subcutaneous tissue disorder
excluded_subClassOf
MONDO:0100524
ASAH1-related sphingolipidosis
is_a
FRBRL
related
Farber disease
exact
Farber lipogranulomatosis
exact
Farber's disease
related
N-LAURYLSPHINGOSINE deacylase deficiency
exact
acid ceramidase deficiency
exact