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ONTOLOGY REPORT - ANNOTATIONS


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;   Mucopolysaccharidosis type 3B;   Mucopolysaccharidosis, MPS-III-B;   N-acetyl-alpha-glucosaminidase deficiency;   Sanfilippo syndrome B;   Sanfilippo syndrome type B;   mucopolysaccharidosis IIIB;   mucopolysaccharidosis type IIIB (Sanfilippo B)
 primary_id: OMIM:252920
 xref: GARD:7072;   ORDO:79270
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mucopolysaccharidosis type IIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Naglu N-acetyl-alpha-glucosaminidase JBrowse link 10 88,979,363 88,986,879 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          monogenic disease 4811
            autosomal genetic disease 3787
              autosomal recessive disease 2159
                mucopolysaccharidosis type IIIB 1
Path 2
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          inherited metabolic disorder 1899
            lysosomal storage disease 428
              mucopolysaccharidosis 26
                mucopolysaccharidosis III 9
                  mucopolysaccharidosis type IIIB 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.