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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
For additional species annotation, visit the Alliance of Genome Resources.



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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:32869858 PMID:33531666 NCBI chr 1:94,980,260...94,988,847
Ensembl chr 1:94,943,587...94,988,847
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G Garin5a golgi associated RAB2 interactor 5A ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and variable seizures ClinVar PMID:25741868 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 18030
    Developmental Disease 12741
      Neurodevelopmental Disorders 6102
        Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures 2
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
                Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures 2
paths to the root