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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:myelomeningocele
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Accession:DOID:0060326 term browser browse the term
Definition:A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. (DO)
Synonyms:exact_synonym: Acquired Myelomeningocele;   Meningomyeloceles;   acquired meningomyelocele;   acquired meningomyeloceles;   acquired myelomeningoceles;   meningomyelocele;   myelocele;   myeloceles;   myelomeningoceles
 primary_id: MESH:D008591
 xref: EFO:1001369;   ICD10CM:Q05;   NCI:C101201;   NCI:C98874


show annotations for term's descendants           Sort by:
myelomeningocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16237707 NCBI chr 8:80,758,641...80,837,891
Ensembl chr 8:71,877,850...71,957,107 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16602021 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO DNA:deletion:intron:rs35565219 (human)
DNA:SNPs, haplotype: :rs710218, rs2229682 (human)		 RGD PMID:21135204 PMID:23427181 RGD:11070819, RGD:12879498 NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22972774 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22972774 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    physical disorder 5192
      neural tube defect 137
        myelomeningocele 5
          Lipomyelomeningocele 0
          Sacral Meningocele Conotruncal Heart Defects 0
          Schwartz Cohen-Addad Lambert Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        Congenital Abnormalities 7887
          Nervous System Malformations 2462
            neural tube defect 137
              spina bifida 41
                myelomeningocele 5
                  Lipomyelomeningocele 0
                  Sacral Meningocele Conotruncal Heart Defects 0
                  Schwartz Cohen-Addad Lambert Syndrome 0
paths to the root