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:hereditary spastic paraplegia 12
go back to main search page
Accession:DOID:0110765 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: SPG12;   autosomal dominant spastic paraplegia 12;   autosomal dominant spastic paraplegia type 12
 xref: GARD:9586;   MESH:C537484;   MIM:604805;   MONDO:0011489;   ORDO:100993


show annotations for term's descendants           Sort by:
hereditary spastic paraplegia 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPM1N protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 ClinVar PMID:25741868 NCBI chr 6:51,865,061...51,871,146
Ensembl chr 6:51,865,955...51,869,939 		JBrowse link
G RTN2 reticulon 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT OMIM
ClinVar		 PMID:10677333 PMID:12427890 PMID:22232211 PMID:24123792 PMID:25741868 More... NCBI chr 6:51,855,844...51,864,753
Ensembl chr 6:51,854,998...51,875,169 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15399
    disease of anatomical entity 15091
      nervous system disease 13242
        central nervous system disease 11821
          paraplegia 691
            hereditary spastic paraplegia 451
              hereditary spastic paraplegia 12 2
Path 2
Term Annotations click to browse term
  disease 15399
    disease of anatomical entity 15091
      nervous system disease 13242
        central nervous system disease 11821
          neurodegenerative disease 4775
            Nervous System Heredodegenerative Disorders 3291
              motor peripheral neuropathy 1272
                hereditary spastic paraplegia 451
                  hereditary spastic paraplegia 12 2
paths to the root