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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 GALNS 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
For additional species annotation, visit the Alliance of Genome Resources.


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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:25741868 NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A OMIM
ClinVar
PMID:1522213 PMID:7581409 PMID:7633425 PMID:7668283 PMID:7795586 PMID:7987329 PMID:8829629 PMID:9298823 PMID:9375852 PMID:9385378 PMID:9401012 PMID:9521421 PMID:9660054 PMID:10479485 PMID:10814710 PMID:12442278 PMID:12721840 PMID:15235041 PMID:15241807 PMID:15309681 PMID:16287098 PMID:16378744 PMID:16837223 PMID:17876718 PMID:20574428 PMID:22521955 PMID:22940367 PMID:22976768 PMID:23227063 PMID:23401410 PMID:23876334 PMID:24033266 PMID:24035930 PMID:24120057 PMID:24411403 PMID:24726177 PMID:25137622 PMID:25252036 PMID:25287660 PMID:25364648 PMID:25433535 PMID:25501214 PMID:25545067 PMID:25741868 PMID:26147980 PMID:26276046 PMID:27331011 PMID:27825773 PMID:28492532 PMID:28844463 PMID:29275451 PMID:29731656 PMID:30094185 PMID:30311386 PMID:30797135 PMID:30980944 PMID:32860008 NCBI chr19:55,391,004...55,423,328
Ensembl chr19:55,389,462...55,423,150
JBrowse link
G Trappc2l trafficking protein particle complex 2-like ISO ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A ClinVar PMID:8829629 PMID:9375852 PMID:10479485 PMID:12442278 PMID:16287098 PMID:24726177 PMID:25252036 PMID:25741868 PMID:27825773 PMID:28492532 NCBI chr19:55,423,350...55,428,551
Ensembl chr19:55,423,350...55,427,036
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                mucopolysaccharidosis IVA 3
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            lysosomal storage disease 525
              mucopolysaccharidosis 31
                mucopolysaccharidosis IV 8
                  mucopolysaccharidosis IVA 3
paths to the root