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 78
go back to main search page
Accession:DOID:0112348 term browser browse the term
Definition:A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13. (DO)
Synonyms:exact_synonym: AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78;   SPG78;   spastic paraplegia 78 autosomal recessive
 broad_synonym: ATP13A2-RELATED CONDITION
 primary_id: MIM:617225
 alt_id: DOID:9003368
 xref: ORDO:513436


show annotations for term's descendants           Sort by:
hereditary spastic paraplegia 78 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp13a2 ATPase type 13A2 ISO ClinVar Annotator: match by term: ATP13A2-related condition | ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 78 OMIM
ClinVar		 PMID:9536098 PMID:12169656 PMID:16964263 PMID:17576681 PMID:18075584 More... NCBI chr 4:140,711,812...140,734,641
Ensembl chr 4:140,714,184...140,734,641 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16269
    disease of anatomical entity 15860
      nervous system disease 13796
        central nervous system disease 12311
          paraplegia 704
            hereditary spastic paraplegia 462
              hereditary spastic paraplegia 78 1
Path 2
Term Annotations click to browse term
  disease 16269
    disease of anatomical entity 15860
      nervous system disease 13796
        central nervous system disease 12311
          neurodegenerative disease 4982
            Nervous System Heredodegenerative Disorders 3395
              motor peripheral neuropathy 1296
                hereditary spastic paraplegia 462
                  hereditary spastic paraplegia 78 1
paths to the root