| umls-concept:C0432217 | skos:definition | 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. | lld:umls |
