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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:Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal
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Accession:DOID:9003268 term browser browse the term
Synonyms:exact_synonym: LETHAL NEURODEVELOPMENTAL DISORDER;   RMFSL
 primary_id: OMIM:614498;   RDO:9000509
 xref: EFO:0009144;   NCI:C154618


show annotations for term's descendants           Sort by:
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16452482 PMID:17576681 PMID:22279524 More... NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248 		JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Rigidity and multifocal seizure syndrome, lethal neonatal ClinVar PMID:22279524 PMID:25500575 PMID:28492532 NCBI chr12:14,030,551...14,038,996
Ensembl chr12:14,018,333...14,039,008 		JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: lethal neurodevelopmental disorder ClinVar PMID:25741868 PMID:34585832 NCBI chr 1:181,622,698...181,625,024 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
        Neurologic Manifestations 10102
          visual epilepsy 345
            Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 3
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              visual pathway disease 348
                visual cortex disease 345
                  visual epilepsy 345
                    Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 3
paths to the root