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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 CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
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Accession:DOID:9001963 term browser browse the term
Definition:An autosomal recessive multisystemic disorder characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, and spasticity of the lower limbs resulting in gait difficulties.
Synonyms:exact_synonym: NEDCASB;   SHMT2-RELATED CONDITION
 primary_id: OMIM:619121

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NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Shmt2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | ClinVar Annotator: match by term: SHMT2-related condition OMIM
ClinVar		 PMID:25741868 PMID:33015733 NCBI chrNW_004624802:10,713,276...10,718,391
Ensembl chrNW_004624802:10,713,276...10,719,253 		JBrowse link
G G SHMT2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | ClinVar Annotator: match by term: SHMT2-related condition OMIM
ClinVar		 PMID:25741868 PMID:33015733 NCBI chr11:53,141,435...53,146,625
Ensembl chr11:53,141,462...53,147,795 		JBrowse link
G P SHMT2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | ClinVar Annotator: match by term: SHMT2-related condition OMIM
ClinVar		 PMID:25741868 PMID:33015733 NCBI chr 5:22,535,780...22,540,322
Ensembl chr 5:22,532,894...22,540,319 		JBrowse link
G S Shmt2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | ClinVar Annotator: match by term: SHMT2-related condition OMIM
ClinVar		 PMID:25741868 PMID:33015733 NCBI chrNW_004936646:1,422,844...1,427,929
Ensembl chrNW_004936646:1,422,817...1,429,037 		JBrowse link
G D SHMT2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | ClinVar Annotator: match by term: SHMT2-related condition OMIM
ClinVar		 PMID:25741868 PMID:33015733 NCBI chr10:1,357,347...1,362,511
Ensembl chr10:1,356,706...1,362,305 		JBrowse link
G B SHMT2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | ClinVar Annotator: match by term: SHMT2-related condition OMIM
ClinVar		 PMID:25741868 PMID:33015733 NCBI chr12:31,692,451...31,697,727
Ensembl chr12:31,944,785...31,950,138 		JBrowse link
G C Shmt2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | ClinVar Annotator: match by term: SHMT2-related condition OMIM
ClinVar		 PMID:25741868 PMID:33015733 NCBI chrNW_004955458:4,957,614...4,962,691
Ensembl chrNW_004955458:4,957,602...4,962,691 		JBrowse link
G R Shmt2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | ClinVar Annotator: match by term: SHMT2-related condition OMIM
ClinVar		 PMID:25741868 PMID:33015733 NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236 		JBrowse link
G M Shmt2 serine hydroxymethyltransferase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | ClinVar Annotator: match by term: SHMT2-related condition OMIM
ClinVar		 PMID:25741868 PMID:33015733 NCBI chr10:127,352,992...127,358,313
Ensembl chr10:127,352,992...127,358,313 		JBrowse link
G H SHMT2 serine hydroxymethyltransferase 2 IAGP ClinVar Annotator: match by term: SHMT2-related condition
ClinVar Annotator: match by term: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities		 OMIM
ClinVar		 PMID:25741868 PMID:33015733 NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 199753
    Developmental Disease 191181
      Neurodevelopmental Disorders 72827
        NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES 10
Path 2
Term Annotations click to browse term
  disease 199753
    disease of anatomical entity 168001
      nervous system disease 142643
        peripheral nervous system disease 41244
          neuropathy 39268
            neuromuscular disease 30833
              muscular disease 21636
                Muscle Spasticity 1232
                  NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES 10
paths to the root