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.
A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in SGSH on chromosome 17q25.3. (DO)
Synonyms:
exact_synonym:
MPS 3 A; MPS III A; MPS IIIA; MPS IIIA - Sanfilippo syndrome A; MPS3A; MPSIIIA; Mucopolysaccharidosis Type 3 A; Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome; Sanfilippo syndrome A; Sanfilippo syndrome type A; heparan sulfamidase deficiency; mucopolysaccharidosis III-A; mucopolysaccharidosis IIIA; mucopolysaccharidosis type 3A; mucopolysaccharidosis type IIIA (Sanfilippo A); mucopolysaccharidosis, MPS-III-A