Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
Accession:DOID:0070543 term browser browse the term
Definition:An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3. (DO)
Synonyms:exact_synonym: NEDCASB;   SHMT2-RELATED CONDITION
 alt_id: DOID:9001963
 xref: MIM:619121;   MONDO:0030866


show annotations for term's descendants           Sort by:
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Neurodevelopmental Disorders 6962
        neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        peripheral nervous system disease 4382
          neuropathy 4169
            neuromuscular disease 3218
              muscular disease 2225
                Muscle Spasticity 123
                  neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 1
paths to the root