Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:9007799 term browser browse the term
Synonyms:exact_synonym: NFLS;   Neurofibromatosis Type 1-Like Syndrome
 primary_id: MESH:C548032;   RDO:0004644
 alt_id: OMIM:611431
For additional species annotation, visit the Alliance of Genome Resources.


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 chr 3:108,944,094...108,977,480 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 chr 3:108,984,029...109,044,420
Ensembl chr 3:108,984,029...109,044,420
JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Legius syndrome
ClinVar Annotator: match by OMIM:611431
OMIM
ClinVar
PMID:3128965, PMID:11493923, PMID:15683364, PMID:17704776, PMID:19366998, PMID:19443465, PMID:19920235, PMID:20179001, PMID:20339110, PMID:21089071, PMID:21495177, PMID:21548021, PMID:21649642, PMID:22751498, PMID:22753041, PMID:24033266, PMID:24334617, PMID:24469042, PMID:25074460, PMID:25741868, PMID:25883013, PMID:25981987, PMID:26635368, PMID:27081556, PMID:28150585, PMID:28492532, PMID:28747691 NCBI chr 3:108,795,337...108,861,650
Ensembl chr 3:108,795,235...108,857,556
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Legius Syndrome 3
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          skin disease 2749
            pigmentation disease 243
              Cafe-au-Lait Spots 24
                Legius Syndrome 3
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.