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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
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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
 primary_id: OMIM:615043
 alt_id: RDO:9001077
 xref: ORDO:320370
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 43 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive OMIM
ClinVar
PMID:20039086 PMID:21981780 PMID:22584950 PMID:23166001 PMID:23269600 PMID:23436634 PMID:23494994 PMID:23857908 PMID:24033266 PMID:24361204 PMID:25558065 PMID:25592411 PMID:25741868 PMID:25962551 PMID:27112773 PMID:28492532 PMID:28641177 PMID:28832565 PMID:30088953 PMID:30392167 PMID:31087512 NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          paraplegia 162
            hereditary spastic paraplegia 146
              hereditary spastic paraplegia 43 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          neurodegenerative disease 3235
            Nervous System Heredodegenerative Disorders 1952
              motor peripheral neuropathy 536
                hereditary spastic paraplegia 146
                  hereditary spastic paraplegia 43 1
paths to the root