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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 Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
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Accession:DOID:9004290 term browser browse the term
Definition:A syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Additional features include hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk. Brain imaging shows cerebral atrophy and delayed myelination. (OMIM)
Synonyms:exact_synonym: NACC1-RELATED CONDITION;   NACC1-RELATED DISORDER;   NECFM
 primary_id: OMIM:617393

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Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NACC1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: NACC1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination OMIM
ClinVar		 PMID:25741868 PMID:28132692 PMID:28492532 NCBI chr 6:11,800,219...11,825,232
Ensembl chr 6:11,818,968...11,825,412 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    Developmental Disease 13266
      Neurodevelopmental Disorders 6638
        Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
Path 2
Term Annotations click to browse term
  disease 15285
    disease of anatomical entity 14908
      nervous system disease 13000
        central nervous system disease 11626
          brain disease 10914
            disease of mental health 7852
              developmental disorder of mental health 5361
                specific developmental disorder 4390
                  eating disorder 16
                    Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
paths to the root