Hyalinosis, Systemic

Source:http://linkedlifedata.com/resource/umls/id/C2745948

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.

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