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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: 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

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Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Neurodevelopmental Disorders 2761
        Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
Path 2
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        Congenital Abnormalities 3188
          Nervous System Malformations 652
            complex cortical dysplasia with other brain malformations 405
              Malformations of Cortical Development, Group I 266
                microcephaly 203
                  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.