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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 3:104,134,759...104,164,249
Ensembl chr 3:104,134,824...104,163,704
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 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056
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:9536098 PMID:16199547 PMID:17576681 PMID:17704776 PMID:19366998 More... NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    syndrome 9798
      Legius Syndrome 3
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        sensory system disease 6520
          skin disease 3877
            pigmentation disease 475
              Cafe-au-Lait Spots 9
                Legius Syndrome 3
paths to the root