DISEASES

Disease-gene associations mined from literature

Human genes for Farber lipogranulomatosis

Farber lipogranulomatosis [DOID:0050464]

An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur.

Synonyms:  Farber lipogranulomatosis,  DOID:0050464,  Acid Ceramidase Deficiency,  Farber Disease,  N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY ...

Linkouts:  OMIM