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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 IVA
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Accession:DOID:0111391 term browser browse the term
Definition:A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. (DO)
Synonyms:exact_synonym: GALNS Deficiency;   GALNS deficiencies;   MPS IV - Morquio syndrome A;   MPS IV A;   MPS IVA;   MPS4A;   Morquio A Disease;   Morquio Syndrome A;   Mucopolysaccharidosis Type IV A;   Mucopolysaccharidosis, MPS-IV-A;   mucopolysaccharidosis type IVA
 primary_id: OMIM:253000
 xref: GARD:3785;   ICD10CM:E76.210;   NCI:C84901;   ORDO:309297

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mucopolysaccharidosis IVA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aprt adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chrNW_004936641:913,674...916,312
Ensembl chrNW_004936641:913,475...918,748 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chrNW_004936641:916,695...925,411
Ensembl chrNW_004936641:917,435...920,981 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar		 PMID:1522213 PMID:3129221 PMID:7581409 PMID:7633425 PMID:7668283 More... NCBI chrNW_004936641:893,976...913,138
Ensembl chrNW_004936641:894,869...912,533 		JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:12559846 PMID:18792977 PMID:25741868 PMID:28492532 PMID:28676128 NCBI chrNW_004936477:22,200,471...22,215,473
Ensembl chrNW_004936477:22,200,474...22,215,077 		JBrowse link
G Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chrNW_004936641:932,291...980,440
Ensembl chrNW_004936641:932,577...980,233 		JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chrNW_004936641:887,034...889,435
Ensembl chrNW_004936641:883,292...889,414 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal recessive disease 6218
                mucopolysaccharidosis IVA 6
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          inherited metabolic disorder 5214
            lysosomal storage disease 880
              mucopolysaccharidosis 41
                mucopolysaccharidosis IV 9
                  mucopolysaccharidosis IVA 6
paths to the root