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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:Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures
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Accession:DOID:9002540 term browser browse the term
Definition:An autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity.
Synonyms:exact_synonym: NEMMLAS;   mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis and with or without seizures
 primary_id: OMIM:617710
For additional species annotation, visit the Alliance of Genome Resources.



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Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wars2 tryptophanyl tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures OMIM
ClinVar
PMID:25741868 PMID:28236339 PMID:28492532 PMID:28650581 PMID:28905505 More... NCBI chr 2:186,459,744...186,543,581
Ensembl chr 2:186,459,444...186,543,571
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Neurodevelopmental Disorders 6102
        Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            disease of mental health 7449
              Neurodevelopmental Disorders 6102
                Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures 1
paths to the root