Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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:Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures
go back to main search page
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. (OMIM)
Synonyms:exact_synonym: NEMMLAS;   mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis and with or without seizures
 primary_id: OMIM:617710
 alt_id: RDO:9005185
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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
ClinVar Annotator: match by term: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
ClinVar
OMIM
PMID:25741868 PMID:28236339 PMID:28492532 PMID:28650581 PMID:28905505 PMID:29120065 PMID:30831263 PMID:31970218 PMID:32120303 NCBI chr 2:201,170,363...201,256,115
Ensembl chr 2:201,172,312...201,255,703
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Neurodevelopmental Disorders 5664
        Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            disease of mental health 7022
              Neurodevelopmental Disorders 5664
                Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures 1
paths to the root