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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;   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;   ICD10CM:E76.22;   ORDO:79270
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                mucopolysaccharidosis type IIIB 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2223
            lysosomal storage disease 527
              mucopolysaccharidosis 29
                mucopolysaccharidosis III 11
                  mucopolysaccharidosis type IIIB 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.