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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 Central and Peripheral Motor Dysfunction
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Accession:DOID:9003193 term browser browse the term
Definition:Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) is an autosomal recessive neurologic disorder with a highly variable phenotype. At the severe end of the spectrum, patients may have hypotonia apparent from birth, necessitating mechanical respiration and tube-feeding, and global developmental delay with absence of reaction to touch and no eye contact. At the mild end of the spectrum, patients may present with infantile-onset progressive ataxia and demyelinating peripheral neuropathy. The disorder is caused by mutation in the NFASC gene, which has several neuronal- and glial-specific transcripts. The variable clinical phenotype may be caused by several factors, including the severity of the mutation, the selective involvement of distinct isoforms by pathogenic variants, and the presence of genetic modifiers. NEDCPMD is caused by homozygous mutation in the NFASC gene on chromosome 1q32. (OMIM)
Synonyms:exact_synonym: NEDCPMD
 primary_id: OMIM:618356


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Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFASC neurofascin ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with central and peripheral motor dysfunction OMIM
ClinVar		 PMID:25741868 PMID:28940097 PMID:30124836 PMID:30850329 PMID:31501903 NCBI chr 9:65,502,565...65,715,612
Ensembl chr 9:65,502,259...65,713,518 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Neurodevelopmental Disorders 6635
        Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        central nervous system disease 11610
          brain disease 10899
            disease of mental health 7880
              Neurodevelopmental Disorders 6635
                Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 1
paths to the root