|
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: MPS3A, MPSIIIA, Sanfilippo syndrome type A, heparan sulfamidase deficiency, mucopolysaccharidosis III-A, mucopolysaccharidosis type 3A, mucopolysaccharidosis type IIIA (Sanfilippo A),
Xenbase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee