Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


GViewer not supported for chinchilla.
show annotations for term's descendants           Sort by:
 
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 ISO OMIM NCBI chrNW_004955533:720,255...756,893 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12565
    Developmental Disease 9402
      Neurodevelopmental Disorders 5074
        Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
Path 2
Term Annotations click to browse term
  disease 12565
    Developmental Disease 9402
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8093
        genetic disease 7686
          monogenic disease 6005
            autosomal genetic disease 5303
              autosomal dominant disease 3741
                complex cortical dysplasia with other brain malformations 1122
                  Malformations of Cortical Development, Group I 996
                    microcephaly 849
                      Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
paths to the root