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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 OMIM NCBI chr 3:57,480,935...57,514,836 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13595
    Developmental Disease 10032
      Neurodevelopmental Disorders 5484
        Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
Path 2
Term Annotations click to browse term
  disease 13595
    Developmental Disease 10032
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8367
        genetic disease 7919
          monogenic disease 6063
            autosomal genetic disease 5270
              autosomal dominant disease 3607
                complex cortical dysplasia with other brain malformations 1154
                  Malformations of Cortical Development, Group I 1013
                    microcephaly 866
                      Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
paths to the root