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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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Term Annotations click to browse term
  disease 11860
    Developmental Diseases 8198
      Neurodevelopmental Disorders 3980
        Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 0
Path 2
Term Annotations click to browse term
  disease 11860
    Developmental Diseases 8198
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7021
        genetic disease 6550
          monogenic disease 4441
            autosomal genetic disease 3462
              autosomal dominant disease 2043
                complex cortical dysplasia with other brain malformations 467
                  Malformations of Cortical Development, Group I 330
                    microcephaly 205
                      Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.