Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Aspartylglucosaminuria

An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

Thick vermilion border

Increased width of the skin of vermilion border region of upper lip.

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PMID (PMCID)