A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. [ NCIT:C84898 ]
Synonyms: MPS III B N-acetyl-alpha-glucosaminidase deficiency Sanfilippo syndrome type B mucopolysaccharidosis type IIIB Sanfilippo B mucopolysaccharidosis type IIIB (Sanfilippo B) MPS3B MPSIIIB Sanfilippo syndrome B mucopolysaccharidosis type 3B
Term information
- DOID:0111394 (MONDO:equivalentTo)
- NANDO:2201175 (https://orcid.org/0000-0003-0011-764X)
- UMLS:C0086648 (MONDO:equivalentTo)
- NCIT:C84898 (MONDO:equivalentTo)
- SCTID:59990008 (MONDO:equivalentTo)
- GARD:7072 (MONDO:GARD)
- MEDGEN:88601 (MONDO:equivalentTo)
- OMIM:252920 (Orphanet:79270/e)
- Orphanet:79270 (OMIM:252920)
- NANDO:1200102 (https://orcid.org/0000-0003-0011-764X)
gard_rare, otar, rare, ordo_subtype_of_a_disorder, nord_rare, ordo_etiological_subtype
https://github.com/monarch-initiative/mondo/issues/4521
https://github.com/monarch-initiative/mondo/issues/4948
https://github.com/monarch-initiative/mondo/issues/5075
http://purl.obolibrary.org/obo/DOID_0111394
http://www.orpha.net/ORDO/Orphanet_79270
http://identifiers.org/medgen/88601
http://identifiers.org/snomedct/59990008
http://purl.obolibrary.org/obo/NCIT_C84898
https://omim.org/entry/252920
http://linkedlifedata.com/resource/umls/id/C0086648
NAGLU deficiency
mucopolysaccharidosis, type IIIB
Mucopoly-saccharidosis type 3B
N-Acetyl-Alpha-D-glucosaminidase deficiency
MPS IIIB
MPS 3B
mucopolysaccharidosis, type 3B