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 )

Relationships
is a type of: autosomal recessive disease mucopolysaccharidosis III