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ONTOLOGY REPORT - ANNOTATIONS


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 GLB1 on chromosome 3p22.3. (DO)
Synonyms:exact_synonym: MPS IV - Morquio syndrome B;   MPS IV B;   MPS IVB;   MPS4B;   MUCOPOLYSACCHARIDOSIS, MPS-IV-B;   Morquio B Syndrome;   Morquio B disease;   Morquio Syndrome, Type B;   Morquio disease type B;   Morquio's Disease Type B;   Mucopolysaccharidosis 4B;   beta-D-galactosidase deficiency;   mucopolysaccharidosis type IV B;   mucopolysaccharidosis type IVB (Morquio)
 primary_id: OMIM:253010
 xref: ICD10CM:E76.211;   ORDO:309310
For additional species annotation, visit the Alliance of Genome Resources.


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mucopolysaccharidosis type IVB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:7240710
RGD:8554872
G Tmppe transmembrane protein with metallophosphoesterase domain JBrowse link 8 122,439,679 122,447,208 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            autosomal genetic disease 3674
              autosomal recessive disease 2106
                mucopolysaccharidosis type IVB 2
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          inherited metabolic disorder 1884
            lysosomal storage disease 420
              mucopolysaccharidosis 26
                mucopolysaccharidosis IV 6
                  mucopolysaccharidosis type IVB 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.