Sly syndrome - Ontology Report - Rat Genome Database

	Submit Data \| Help \| Video Tutorials \| News \| Publications \| FTP Download \| REST API \| Citing RGD \| Contact
	Search RGD Grant Resources Citing RGD About Us Contact Us Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease Find Models new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) 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 Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
	Advanced Search (OLGA)

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:	Sly syndrome	go back to main search page
Accession:	DOID:12803	browse the term
Definition:	Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.
Synonyms:	exact_synonym:	GUSB Deficiencies; GUSB Deficiency; MPS VII; MPS VII - Sly syndrome; MPS7; Mucopolysaccharidosis 7; Mucopolysaccharidosis Type VII; Sly disease; beta Glucuronidase Deficiency; beta-glucuronidase deficiencies; deficiency of beta-glucuronidase; mucopolysaccharidosis VII
	primary_id:	MESH:D016538
	alt_id:	OMIA:000667; OMIM:253220
	xref:	ICD10CM:E76.29; NCI:C84903
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:

Rat (1) Mouse (1) Human (105) Chinchilla (1) Bonobo (1) Dog (1) Squirrel (1) Pig (1) All
Genes (1)

Sly syndrome

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Gusb

glucuronidase, beta

ISO

ClinVar Annotator: match by OMIM:253220
ClinVar Annotator: match by term: Mucopolysaccharidosis type VII
ClinVar Annotator: match by term: Sly syndrome

OMIM
ClinVar

PMID:144057 PMID:1702266 PMID:1833732 PMID:1992472 PMID:6811712 PMID:7573038 PMID:7633414 PMID:7633417 PMID:7680524 PMID:8089138 PMID:8111412 PMID:8111413 PMID:8644704 PMID:9099834 PMID:9490302 PMID:9921904 PMID:11226217 PMID:12403825 PMID:12522561 PMID:12859417 PMID:19224584 PMID:21504867 PMID:23777470 PMID:24033266 PMID:24260279 PMID:25741868 PMID:26036949 PMID:26908836 PMID:28492532 PMID:29620724 PMID:30413728

NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771

Term paths to the root

Path 1
Term	Annotations
disease	16091
syndrome	7036
Sly syndrome	1
Path 2
Term	Annotations
disease	16091
Developmental Diseases	9586
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	8437
genetic disease	7958
inherited metabolic disorder	2235
carbohydrate metabolic disorder	399
mucopolysaccharidosis	31
Sly syndrome	1

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description: