Term Name: | mucopolysaccharidosis type IIIA |
---|---|
Synonyms: | heparan sulfamidase deficiency, MPS3A, MPSIIIA, mucopolysaccharidosis III-A, mucopolysaccharidosis type 3A, mucopolysaccharidosis type IIIA (Sanfilippo A), Sanfilippo syndrome type A |
Definition: | 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 the SGSH gene on chromosome 17q25.3. |
Ontology: | Human Disease [DOID:0111395] ( DOID:0111395 ) |