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 cerebellar atrophy and motor dysfunction
go back to main search page
Accession:DOID:0070443 term browser browse the term
Definition:An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2. (DO)
Synonyms:exact_synonym: GEMIN5-RELATED NEURODEVELOPMENTAL DISORDER;   NEDCAM
 primary_id: MIM:619333
 alt_id: DOID:9000830


show annotations for term's descendants           Sort by:
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gemin5 gem (nuclear organelle) associated protein 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33963192 NCBI chr10:42,295,729...42,342,902
Ensembl chr10:42,297,515...42,342,892 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        neurodegenerative disease 5008
          primary cerebellar degeneration 587
            neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            disease of mental health 8428
              developmental disorder of mental health 5649
                specific developmental disorder 4605
                  intellectual disability 4384
                    autosomal recessive intellectual developmental disorder 293
                      neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 1
paths to the root