RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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.
Synonyms:
exact_synonym:
Lipoid Proteinosis of Urbach and Wiethe; Lipoidproteinosis; Lipoproteinosis; Urbach Wiethe Disease; Urbach-Wiethe lipoid proteinosis; Urbach-Wiethe syndrome; hyalinosis cutis et mucosae; lipid proteinosis