.
hereditary spastic paraplegia 43 - Ontology Report - Rat Genome Database

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 43
go back to main search page
Accession:DOID:0110795 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12. (DO)
Synonyms:exact_synonym: SPG43;   autosomal recessive spastic paraplegia 43;   autosomal recessive spastic paraplegia type 43
 broad_synonym: C19ORF12-RELATED CONDITION
 primary_id: MIM:615043
 alt_id: RDO:9001077
 xref: ORDO:320370

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
hereditary spastic paraplegia 43 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G M 1600014C10Rik RIKEN cDNA 1600014C10 gene ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr 7:37,882,642...37,896,992
Ensembl chr 7:37,882,642...37,896,992 		JBrowse link
G H C19orf12 chromosome 19 open reading frame 12 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 43
ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G D C1H19orf12 chromosome 1 C19orf12 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr 1:121,823,827...121,838,242
Ensembl chr 1:121,758,236...121,766,652
Ensembl chr 1:121,758,236...121,766,652 		JBrowse link
G R C1h19orf12 similar to human chromosome 19 open reading frame 12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr 1:100,010,280...100,023,907
Ensembl chr 1:90,873,549...90,886,208 		JBrowse link
G B C20H19orf12 chromosome 20 C19orf12 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr19:26,626,994...26,643,372
Ensembl chr19:35,385,884...35,401,408 		JBrowse link
G P C6H19orf12 chromosome 6 C19orf12 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr 6:39,813,644...39,825,069
Ensembl chr 6:39,813,665...39,825,000 		JBrowse link
G N CUNH19orf12 chromosome unknown C19orf12 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chrNW_004624794:4,869,914...4,882,651
Ensembl chrNW_004624794:4,871,588...4,880,542 		JBrowse link
G G CUNH19orf12 chromosome unknown C19orf12 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chr 6:24,769,788...24,784,248
Ensembl chr 6:24,770,567...24,783,703 		JBrowse link
G S CUNH19orf12 chromosome unknown C19orf12 homolog ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chrNW_004936570:5,628,593...5,640,982
Ensembl chrNW_004936570:5,628,515...5,641,056 		JBrowse link
G C LOC102011427 chromosome unknown open reading frame, human C19orf12 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 More... NCBI chrNW_004955468:7,903,438...7,914,038
Ensembl chrNW_004955468:7,903,432...7,914,038 		JBrowse link
G H LOC130064129 ATAC-STARR-seq lymphoblastoid silent region 10465 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr19:29,714,796...29,715,585 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          paraplegia 7142
            hereditary spastic paraplegia 4775
              hereditary spastic paraplegia 43 11
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          neurodegenerative disease 56131
            Nervous System Heredodegenerative Disorders 34568
              motor peripheral neuropathy 13240
                hereditary spastic paraplegia 4775
                  hereditary spastic paraplegia 43 11
paths to the root