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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
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 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                mucopolysaccharidosis type IIIB 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          inherited metabolic disorder 4673
            lysosomal storage disease 815
              mucopolysaccharidosis 107
                mucopolysaccharidosis III 22
                  mucopolysaccharidosis type IIIB 1
paths to the root