| umls-concept:C0023795 | skos:definition | MSH: An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.,NCI: A rare, autosomal recessive metabolic disorder characterized by hoarseness of voice, eyelid beading, skin lesions, and seizures. | lld:umls |
