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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:Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures
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Accession:DOID:9007229 term browser browse the term
Definition:An autosomal recessive disorder characterized by global developmental delay apparent in early childhood. Caused by homozygous mutation in the EMC10 gene on chromosome 19q13. (OMIM)
Synonyms:exact_synonym: NEDDFAS
 primary_id: OMIM:619264


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Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emc10 ER membrane protein complex subunit 10 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:32869858 PMID:33531666 PMID:35684946 NCBI chr 1:94,980,260...94,988,847
Ensembl chr 1:94,943,587...94,988,847 		JBrowse link
G Garin5a golgi associated RAB2 interactor 5A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures ClinVar PMID:25741868 PMID:35684946 NCBI chr 1:94,988,959...94,995,971
Ensembl chr 1:94,988,613...94,993,539 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Neurodevelopmental Disorders 6831
        Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              Neurodevelopmental Disorders 6831
                Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures 2
paths to the root