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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:Luscan-Lumish Syndrome
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Accession:DOID:9008051 term browser browse the term
Synonyms:exact_synonym: LLS
 primary_id: OMIM:616831


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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 Kif9 kinesin family member 9 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chrNW_004936596:952,028...1,010,889 JBrowse link
G Klhl18 kelch like family member 18 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chrNW_004936596:1,010,963...1,063,539
Ensembl chrNW_004936596:1,010,880...1,063,518
JBrowse link
G Ptpn23 protein tyrosine phosphatase non-receptor type 23 ISO ClinVar Annotator: match by term: Luscan-Lumish syndrome ClinVar PMID:28492532 NCBI chrNW_004936596:1,094,285...1,124,483
Ensembl chrNW_004936596:1,094,205...1,124,712
JBrowse link
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 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20864444 PMID:22495309 PMID:23160955 More... NCBI chrNW_004936596:795,940...898,823
Ensembl chrNW_004936596:796,601...883,373
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9443
      Luscan-Lumish Syndrome 4
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      nervous system disease 12321
        central nervous system disease 11034
          brain disease 10356
            disease of mental health 7436
              developmental disorder of mental health 5048
                specific developmental disorder 4167
                  communication disorder 357
                    language disorder 149
                      Language Development Disorders 58
                        Luscan-Lumish Syndrome 4
paths to the root