WormBase Tree Display for DO_term: DOID:0111394
expand all nodes | collapse all nodes | view schema
| DOID:0111394 | Name | mucopolysaccharidosis type IIIB | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | MPS3B | |||
| MPSIIIB | |||||
| Mucopoly-saccharidosis type 3B | |||||
| Mucopolysaccharidosis type 3B | |||||
| N-acetyl-alpha-glucosaminidase deficiency | |||||
| NAGLU deficiency | |||||
| Sanfilippo syndrome type B | |||||
| mucopolysaccharidosis type IIIB (Sanfilippo B) | |||||
| Parent | Is_a | DOID:12801 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 252920 | |
| Attribute_of | Gene_by_orthology | WBGene00010722 |
