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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Mthfs methenyltetrahydrofolate synthetase JBrowse link 8 96,564,877 96,614,386 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Neurodevelopmental Disorders 4162
        Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
Path 2
Term Annotations click to browse term
  disease 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        genetic disease 7157
          monogenic disease 4798
            autosomal genetic disease 3774
              autosomal dominant disease 2239
                complex cortical dysplasia with other brain malformations 494
                  Malformations of Cortical Development, Group I 349
                    microcephaly 220
                      Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.