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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:Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome
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Accession:DOID:9006620 term browser browse the term
Synonyms:exact_synonym: LEMSPAD;   LEMSPAD syndrome
 broad_synonym: EIF2AK1-related condition
 primary_id: OMIM:618878
For additional species annotation, visit the Alliance of Genome Resources.


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Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO ClinVar Annotator: match by term: LEMSPAD SYNDROME ClinVar
OMIM
PMID:25741868, PMID:32197074 NCBI chr12:12,749,026...12,782,078
Ensembl chr12:12,748,785...12,782,146
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      musculoskeletal system disease 5713
        muscular disease 1196
          Muscle Spasticity 56
            Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        central nervous system disease 9008
          brain disease 8328
            disease of mental health 5992
              developmental disorder of mental health 3114
                specific developmental disorder 2289
                  communication disorder 291
                    language disorder 206
                      speech disorder 75
                        articulation disorder 33
                          Dysarthria 29
                            Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome 1
paths to the root

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