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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 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;   NCI:C84902;   ORDO:309310
For additional species annotation, visit the Alliance of Genome Resources.


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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:1487238 PMID:1907800 PMID:1909089 PMID:1928092 PMID:6791574 PMID:7586649 PMID:8068159 PMID:8112731 PMID:8198123 PMID:8199591 PMID:8213816 PMID:8500799 PMID:8652017 PMID:8922281 PMID:9203065 PMID:9536098 PMID:10338095 PMID:10737981 PMID:10839995 PMID:10841810 PMID:11504597 PMID:11511921 PMID:11727201 PMID:12393180 PMID:12644936 PMID:12673792 PMID:15365997 PMID:15714521 PMID:15943552 PMID:15986423 PMID:16314480 PMID:16538002 PMID:16617000 PMID:16626397 PMID:16674934 PMID:16941474 PMID:17221873 PMID:17309651 PMID:17576681 PMID:17664528 PMID:18524657 PMID:18546276 PMID:18571950 PMID:19472408 PMID:20175788 PMID:20301601 PMID:20409738 PMID:20920281 PMID:21214877 PMID:21497194 PMID:21520340 PMID:21637542 PMID:22128166 PMID:22234367 PMID:22371915 PMID:22675082 PMID:23151865 PMID:23337983 PMID:23430499 PMID:23430803 PMID:23831247 PMID:24033266 PMID:24156116 PMID:24777551 PMID:25326635 PMID:25326637 PMID:25443580 PMID:25557439 PMID:25600812 PMID:25741868 PMID:25936995 PMID:26108645 PMID:26169295 PMID:26646981 PMID:26990548 PMID:27679996 PMID:28332257 PMID:28492532 PMID:28554332 PMID:28716012 PMID:28976722 PMID:29160035 PMID:29352662 PMID:29396849 PMID:29439846 PMID:29451896 PMID:30267299 PMID:30548430 PMID:30555092 PMID:30675867 PMID:30809705 PMID:31761138 PMID:31905715 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
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:16941474 PMID:21497194 PMID:25741868 PMID:28492532 PMID:29160035 NCBI chr 8:122,439,679...122,447,208 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal recessive disease 3224
                mucopolysaccharidosis type IVB 2
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            lysosomal storage disease 580
              mucopolysaccharidosis 31
                mucopolysaccharidosis IV 8
                  mucopolysaccharidosis type IVB 2
paths to the root