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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 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION OMIM
ClinVar
PMID:25741868 PMID:30031689 NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379
JBrowse link
G ST20-MTHFS ST20-MTHFS readthrough IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION ClinVar PMID:25741868 PMID:30031689 NCBI chr15:79,843,547...79,923,092
Ensembl chr15:79,845,150...79,923,754
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19905
    Developmental Disease 13334
      Neurodevelopmental Disorders 7409
        Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 2
Path 2
Term Annotations click to browse term
  disease 19905
    Developmental Disease 13334
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10576
        genetic disease 10055
          monogenic disease 7637
            autosomal genetic disease 6542
              autosomal dominant disease 4449
                complex cortical dysplasia with other brain malformations 1253
                  Malformations of Cortical Development, Group I 1095
                    microcephaly 933
                      Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 2
paths to the root