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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, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
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Accession:DOID:9003110 term browser browse the term
Definition:A disease characterized by global developmental delay apparent in early childhood, followed by episodic neurologic regression or decompensation associated with systemic stress, such as febrile infection. Affected individuals have hypotonia, gait difficulties or ataxia, poor or absent speech with dysarthria, and variable motor abnormalities, including spasticity, dystonia, extrapyramidal signs, and tremor. Brain imaging shows diffuse white matter abnormalities, poor myelination, thin corpus callosum, and generalized cerebral atrophy with enlarged ventricles. The clinical features of the disorder and the abnormal brain imaging findings are progressive.
Synonyms:exact_synonym: EIF2AK2-RELATED CONDITION;   LEUDEN;   LEUDEN SYNDROME
 primary_id: MIM:618877


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LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 ISO ClinVar Annotator: match by term: Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32197074 PMID:33236446 PMID:33553620 More... NCBI chr17:29,494,641...29,537,933
Ensembl chr17:29,496,128...29,537,933 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15720
    disease of anatomical entity 15366
      nervous system disease 13480
        neurodegenerative disease 4821
          LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 15720
    disease of anatomical entity 15366
      nervous system disease 13480
        central nervous system disease 12044
          brain disease 11319
            disease of mental health 8188
              Neurodevelopmental Disorders 6911
                Developmental Disabilities 777
                  LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME 1
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