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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:mucopolysaccharidosis type IIIB
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Accession:DOID:0111394 term browser browse the term
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. (DO)
Synonyms:exact_synonym: MPS 3 B;   MPS III B;   MPS IIIB;   MPS IIIB - Sanfilippo syndrome B;   MPS3B;   MPSIIIB;   Mucopoly-saccharidosis type 3B;   Mucopolysaccharidosis Type 3 B;   N-acetyl-alpha-glucosaminidase deficiency;   Sanfilippo syndrome B;   Sanfilippo syndrome type B;   mucopolysaccharidosis IIIB;   mucopolysaccharidosis type 3B;   mucopolysaccharidosis type IIIB (Sanfilippo B);   mucopolysaccharidosis, MPS-III-B
 primary_id: OMIM:252920
 xref: GARD:7072;   ICD10CM:E76.22;   ORDO:79270


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mucopolysaccharidosis type IIIB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B ClinVar PMID:28492532 NCBI chr10:86,014,566...86,018,849
Ensembl chr10:86,014,597...86,018,841 		JBrowse link
G Hsd17b1 hydroxysteroid (17-beta) dehydrogenase 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B ClinVar PMID:28492532 NCBI chr10:86,009,728...86,011,928
Ensembl chr10:86,009,728...86,011,927 		JBrowse link
G Mlx MAX dimerization protein MLX ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B ClinVar PMID:28492532 NCBI chr10:86,019,216...86,024,326
Ensembl chr10:86,019,588...86,032,350 		JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIB (Sanfilippo B) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B OMIM
ClinVar		 PMID:8650226 PMID:9443875 PMID:9443878 PMID:9536098 PMID:9832037 More... NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972 		JBrowse link
G Psmc3ip PSMC3 interacting protein ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B ClinVar PMID:28492532 NCBI chr10:86,024,281...86,027,928
Ensembl chr10:86,023,950...86,027,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                mucopolysaccharidosis type IIIB 5
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            lysosomal storage disease 995
              mucopolysaccharidosis 44
                mucopolysaccharidosis III 18
                  mucopolysaccharidosis type IIIB 5
paths to the root