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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 3 57,480,935 57,514,836 RGD:7240710
RGD:9068941

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Term Annotations click to browse term
  disease 12015
    Developmental Diseases 8275
      Neurodevelopmental Disorders 4006
        Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
Path 2
Term Annotations click to browse term
  disease 12015
    Developmental Diseases 8275
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7089
        genetic disease 6609
          monogenic disease 4461
            autosomal genetic disease 3474
              autosomal dominant disease 2042
                complex cortical dysplasia with other brain malformations 471
                  Malformations of Cortical Development, Group I 329
                    microcephaly 206
                      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.