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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 IAGP
EXP		 ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
CTD Direct Evidence: marker/mechanism
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
CTD		 PMID:25741868 PMID:28132692 PMID:28492532 NCBI chr19:13,116,852...13,141,147
Ensembl chr19:13,116,862...13,141,147 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Neurodevelopmental Disorders 13563
        Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            disease of mental health 17210
              developmental disorder of mental health 12014
                specific developmental disorder 7407
                  eating disorder 17
                    Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
paths to the root