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:Luscan-Lumish syndrome
go back to main search page
Accession:DOID:9008051 term browser browse the term
Synonyms:exact_synonym: LLS
 primary_id: OMIM:616831
 alt_id: RDO:9000385
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Luscan-Lumish syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: LUSCAN-LUMISH SYNDROME
ClinVar Annotator: match by term: Luscan-lumish syndrome
ClinVar
OMIM
PMID:22495309, PMID:23160955, PMID:24267886, PMID:24728327, PMID:24852293, PMID:24901346, PMID:25574603, PMID:25741868, PMID:26084711, PMID:26467025, PMID:26580448, PMID:27317772, PMID:27455002, PMID:28424246, PMID:28492532, PMID:28577310, PMID:29681085, PMID:30311386, PMID:30419952 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Luscan-Lumish syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              developmental disorder of mental health 3111
                specific developmental disorder 2287
                  communication disorder 291
                    language disorder 206
                      Language Development Disorders 133
                        Luscan-Lumish syndrome 1
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.