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   new 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

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:Legius syndrome
go back to main search page
Accession:DOID:0070484 term browser browse the term
Definition:A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14. (DO)
Synonyms:exact_synonym: LGSS;   NF1-like syndrome;   NFLS;   neurofibromatosis type 1-like syndrome
 primary_id: MESH:C548032
 alt_id: DOID:9007799;   OMIM:611431
 xref: GARD:10714;   NCI:C176941;   ORDO:137605


show annotations for term's descendants           Sort by:
Legius syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM98B family with sequence similarity 98 member B ISO ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021 PMID:22753041 PMID:28492532 NCBI chr30:5,802,656...5,839,256
Ensembl chr30:5,802,734...5,837,657 		JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Legius syndrome ClinVar PMID:21548021 PMID:22753041 PMID:28492532 NCBI chr30:5,840,901...5,914,804
Ensembl chr30:5,841,738...5,914,810 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Legius syndrome | ClinVar Annotator: match by term: Neurofibromatosis type 1 like syndrome OMIM
ClinVar		 PMID:2275304 PMID:9536098 PMID:15683364 PMID:16199547 PMID:17576681 More... NCBI chr30:5,594,327...5,716,082
Ensembl chr30:5,594,473...5,712,040 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15615
    syndrome 10115
      RASopathy 259
        Legius syndrome 3
Path 2
Term Annotations click to browse term
  disease 15615
    disease of anatomical entity 15198
      nervous system disease 13267
        Neurologic Manifestations 9636
          sensory system disease 6673
            skin disease 3840
              pigmentation disease 251
                Cafe-au-Lait Spots 9
                  Legius syndrome 3
paths to the root