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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 IVB
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Accession:DOID:0111392 term browser browse the term
Definition:A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3. (DO)
Synonyms:exact_synonym: MPS IV - Morquio syndrome B;   MPS IV B;   MPS IVB;   MPS4B;   Morquio Syndrome, Type B;   Morquio disease B;   Morquio disease type B;   Morquio syndrome B;   Morquio's disease Type B;   Mucopolysaccharidosis 4B;   beta-D-galactosidase deficiency;   mucopolysaccharidosis type IV B;   mucopolysaccharidosis type IVB (Morquio);   mucopolysaccharidosis, MPS-IV-B
 primary_id: OMIM:253010
 xref: ICD10CM:E76.211;   NCI:C84902;   ORDO:309310


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mucopolysaccharidosis type IVB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B OMIM
ClinVar		 PMID:1353343 PMID:1487238 PMID:1907800 PMID:1909089 PMID:1928092 More... NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B ClinVar PMID:8198123 PMID:8199591 PMID:9536098 PMID:16199547 PMID:16941474 More... NCBI chr 8:114,085,497...114,093,388
Ensembl chr 8:114,084,831...114,094,286 		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 IVB 2
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 IV 9
                  mucopolysaccharidosis type IVB 2
paths to the root