| umls-concept:C2745948 | skos:definition | MSH: Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. It is comprised of two allelic disorders: infantile systemic hyalinosis and juvenile hyaline fibromatosis. Mutations in the capillary morphogenesis protein-2 are associated with the disorder. | lld:umls |
