loading...| Preferred Name |
mucopolysaccharidosis type IIIB |
| Synonyms |
Mucopolysaccharidosis type 3B |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111394 |
| database_cross_reference |
SNOMEDCT_US_2022_09_01:254071004 OMIM:252920 NCI:C84898 GARD:7072 ICD10CM:E76.22 UMLS_CUI:C0086648 ORDO:79270 MESH:D009084 |
| 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. |
| has exact synonym |
Mucopolysaccharidosis type 3B MPS3B mucopolysaccharidosis type IIIB (Sanfilippo B) NAGLU deficiency MPSIIIB Sanfilippo syndrome type B N-acetyl-alpha-glucosaminidase deficiency Mucopoly-saccharidosis type 3B |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111394 |
| in_subset | |
| label |
mucopolysaccharidosis type IIIB |
| notation |
DOID:0111394 |
| prefLabel |
mucopolysaccharidosis type IIIB |
| subClassOf |