DISEASES

Disease-gene associations mined from literature

Human genes for mucopolysaccharidosis type IIIA

Mucopolysaccharidosis type IIIA [DOID:0111395]

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.

Synonyms:  mucopolysaccharidosis type IIIA,  DOID:0111395,  mucopolysaccharidosis type IIIAs,  MPS3A,  MPSIIIA ...