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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 Microcephaly, Epilepsy, and Hypomyelination
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Accession:DOID:9000512 term browser browse the term
Definition:NEDMEHM is caused by compound heterozygous mutation in the MTHFS gene on chromosome 15q25. (OMIM)
Synonyms:exact_synonym: MTHFS-RELATED CONDITION;   NEDMEHM
 primary_id: OMIM:618367
For additional species annotation, visit the Alliance of Genome Resources.


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Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfs methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION OMIM
ClinVar
PMID:25741868, PMID:30031689 NCBI chr 8:96,564,877...96,614,386
Ensembl chr 8:96,564,877...96,614,348
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Neurodevelopmental Disorders 4556
        Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                complex cortical dysplasia with other brain malformations 741
                  Malformations of Cortical Development, Group I 595
                    microcephaly 431
                      Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.