mucopolysaccharidosis type IIIB

Summary

DOID:0111394 - mucopolysaccharidosis type IIIB

Disease Ontology Definition:A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.

Synonyms: MPS3B, MPSIIIB, Mucopoly-saccharidosis type 3B, Mucopolysaccharidosis type 3B, mucopolysaccharidosis type IIIB (Sanfilippo B), N-acetyl-alpha-glucosaminidase deficiency, NAGLU deficiency, Sanfilippo syndrome type B

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

: naglu

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)