| Metadata | |
|---|---|
| ID | DOID:0111394 |
| Name | mucopolysaccharidosis type IIIB |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/8650226, https://www.ncbi.nlm.nih.gov/pubmed/15933803 |
| Xrefs |
SNOMEDCT_US_2023_03_01:254071004 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
MPS3B [EXACT] MPSIIIB [EXACT] Mucopoly-saccharidosis type 3B [EXACT] Mucopolysaccharidosis type 3B [EXACT] mucopolysaccharidosis type IIIB (Sanfilippo B) [EXACT] N-acetyl-alpha-glucosaminidase deficiency [EXACT] NAGLU deficiency [EXACT] Sanfilippo syndrome type B [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |