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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:7741581, PMID:7795586, PMID:7987329, PMID:8829629, PMID:9189888, PMID:9298823, PMID:9375852, PMID:9385378, PMID:9401012, PMID:9521421, PMID:9660054, PMID:10479485, PMID:10814710, PMID:12442278, PMID:12721840, PMID:12728175, PMID:15235041, PMID:15241807, PMID:15309681, PMID:15689448, PMID:16287098, PMID:16378744, PMID:16539564, PMID:16837223, PMID:17347914, PMID:17876718, PMID:20574428, PMID:21506915, PMID:21943391, PMID:22358740, PMID:22521955, PMID:22543891, PMID:22940367, PMID:22976768, PMID:23227063, PMID:23371450, PMID:23385297, 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:25897204, PMID:26147980, PMID:26276046, PMID:27331011, PMID:27774754, PMID:27825773, PMID:28428354, PMID:28492532, PMID:28844463, PMID:29275451, PMID:29731656, PMID:30094185, PMID:30311386, PMID:30797135, PMID:30980944 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:15689448, PMID:16287098, PMID:21943391, 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 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 IVA 3
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 IVA 3
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.