has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of SGSH alpha-N-acetylglucosaminidase activity N-sulfoglucosamine sulfohydrolase activity mucopolysaccharidosis type 3A https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5075 https://www.malacards.org/card/mucopolysaccharidosis_type_iiia_2 UMLS:C0086647 SCTID:41572006 MEDGEN:39264 A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures. heparan sulfamidase deficiency MPS IIIA Sanfilippo A mucopolysaccharidosis type 3A GARD:0007071 Sanfilippo syndrome type A OMIM:252900 NANDO:2201174 NCIT:C84897 MPS3A mucopolysaccharidosis type IIIA MPS III A Orphanet:79269 DOID:0111395 heparan sulphate sulfatase deficiency Sanfilippo syndrome a mucopoly-saccharidosis type 3A heparane sulfamidase deficiency mucopolysaccharidosis, type IIIA NANDO:1200101 MONDO:0009655 MPSIIIA icd11.foundation:182200345 mucopolysaccharidosis type 3 lysosomal storage disease with skeletal involvement