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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:NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
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Accession:DOID:9009077 term browser browse the term
Definition:This disease is a severe autosomal recessive disorder characterized by onset of symptoms in infancy. Patients present with respiratory failure and require intubation soon after birth. Patients who survive show severe global developmental delay, refractory myoclonic seizures, hyperkinetic movements with exaggerated startle response, and microcephaly with dysmorphic features.
Synonyms:exact_synonym: NDDRSB
 primary_id: OMIM:620327


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NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med11 mediator complex subunit 11 ISO ClinVar Annotator: match by term: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities OMIM
ClinVar		 PMID:36001086 NCBI chr10:55,164,322...55,165,940
Ensembl chr10:55,164,326...55,166,533 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        neurodegenerative disease 4905
          NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          brain disease 11666
            movement disease 2584
              Dyskinesias 2197
                Myoclonus 380
                  Myoclonic Epilepsies 373
                    NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES 1
paths to the root