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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 phosphoribosyl transferase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:10479485 PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 8:123,301,376...123,303,646
Ensembl chr 8:123,301,374...123,303,648 		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 chr 8:123,294,754...123,299,869
Ensembl chr 8:123,294,754...123,300,293 		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 chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202 		JBrowse link
G Idua iduronidase, alpha-L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:12559846 PMID:18792977 PMID:25741868 PMID:28492532 PMID:28676128 NCBI chr 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:25545067 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068 		JBrowse link
G Trappc2l trafficking protein particle complex 2L ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:7795586 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9536098 More... NCBI chr 8:123,338,365...123,342,330
Ensembl chr 8:123,338,379...123,343,399 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          monogenic disease 10362
            autosomal genetic disease 9535
              autosomal recessive disease 6605
                mucopolysaccharidosis IVA 6
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          inherited metabolic disorder 5665
            lysosomal storage disease 981
              mucopolysaccharidosis 41
                mucopolysaccharidosis IV 9
                  mucopolysaccharidosis IVA 6
paths to the root