.
mucopolysaccharidosis type 3 - Ontology Report - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:mucopolysaccharidosis type 3
go back to main search page
Accession:EFO:MONDO:0018937 term browser browse the term
Definition:Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterized by severe and rapid intellectual deterioration.
Synonyms:exact_synonym: DOID:12801;   MPS3;   MPSIII;   N-sulphoglucosamine sulphohydrolase deficiency;   NCIT:C61262;   Orphanet:581;   Sanfilippo disease;   Sanfilippo syndrome;   Sanfilippo's syndrome;   heparan sulfate sulfatase deficiency;   heparan sulphate sulfatase deficiency;   http://identifiers.org/medgen/6452;   http://identifiers.org/snomedct/88393000;   http://linkedlifedata.com/resource/umls/id/C0026706;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1477250013;   mucopolysaccharidosis type III;   mucopolysaccharidosis, MPS-III
 synonym: http://identifiers.org/meddra/10056890
 narrow_synonym: MPS IIIA - Sanfilippo syndrome A;   MPS IIIB - Sanfilippo syndrome B;   MPS IIIC - Sanfilippo syndrome C;   MPS IIID - Sanfilippo syndrome D;   N-acetyl-alpha-D-glucosaminidase deficiency;   NAGLU deficiency;   Sanfilippo syndrome A;   Sanfilippo syndrome B;   mucopolysaccharidosis type IIIA;   mucopolysaccharidosis type IIIB;   mucopolysaccharidosis, MPS-III-B
 related_synonym: Mucopoly-saccharidosis type 3;   mucopolysaccharidosis III
 alt_id: MONDO:0018937
 xref: DOID:12801;   GARD:3807;   MEDGEN:6452;   MedDRA:10056890;   NANDO:1200100;   NANDO:2200549;   NCI:C61262;   NORD:1463;   ORDO:581;   SCTID:88393000;   UMLS:C0026706;   icd11.foundation:1477250013

 Loading Annotations... 
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
X

show annotations for term's descendants           Sort by:
Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            mucopolysaccharidosis type 3 0
              mucopolysaccharidosis type 3A 0
              mucopolysaccharidosis type 3B 0
              mucopolysaccharidosis type 3C 0
              mucopolysaccharidosis type 3D 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          disorder of development or morphogenesis 0
            developmental defect during embryogenesis 0
              developmental anomaly of metabolic origin 0
                mucopolysaccharidosis 0
                  mucopolysaccharidosis type 3 0
                    mucopolysaccharidosis type 3A 0
                    mucopolysaccharidosis type 3B 0
                    mucopolysaccharidosis type 3C 0
                    mucopolysaccharidosis type 3D 0
paths to the root