mucopolysaccharidosis type IIIA

Summary

DOID:0111395 - mucopolysaccharidosis type IIIA

Disease Ontology 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.

Synonyms: heparan sulfamidase deficiency, MPS3A, MPSIIIA, mucopolysaccharidosis III-A, mucopolysaccharidosis type 3A, mucopolysaccharidosis type IIIA (Sanfilippo A), Sanfilippo syndrome type A

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: sgsh

MIM:

MIM:252900 - MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

MIM:252900 - MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), mucopolysaccharidosis III (is_a)