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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:Legius Syndrome
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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:15683364 PMID:17704776 PMID:19366998 PMID:19443465 PMID:19920235 PMID:20179001 PMID:21089071 PMID:21548021 PMID:21649642 PMID:22751498 PMID:22753041 PMID:24033266 PMID:24334617 PMID:24469042 PMID:25074460 PMID:25741868 PMID:25883013 PMID:25981987 PMID:26214305 PMID:26635368 PMID:27081556 PMID:27763634 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 16085
    syndrome 7041
      Legius Syndrome 3
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          skin disease 2775
            pigmentation disease 241
              Cafe-au-Lait Spots 24
                Legius Syndrome 3
paths to the root