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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:10338095, PMID:10737981, PMID:10839995, PMID:10841810, PMID:11504597, PMID:11511921, PMID:12393180, PMID:12644936, 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:17664528, PMID:18524657, PMID:18546276, PMID:18571950, PMID:19472408, PMID:20175788, PMID:20409738, PMID:20920281, PMID:21214877, PMID:21497194, PMID:21520340, PMID:21637542, PMID:22128166, PMID:22234367, PMID:22353294, 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:26766614, 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:30311386, PMID:30548430, PMID:30555092, PMID:30675867, PMID:30809705 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 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 IVB 2
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 IV 6
                  mucopolysaccharidosis type IVB 2
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.