Source:http://linkedlifedata.com/resource/umls/id/C0432217
JABL: Infancy-onset diabetes mellitus with multiple diaphyseal dysplasia, short-trunk dwarfism, bone demineralization, spontaneous fractures, tooth discoloration, dry scaly skin, hip abduction, arthralgia, hepatomegaly, and renal failure. Mental deficiency occurs in some cases.