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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 49
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Accession:DOID:0110801 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32. (DO)
Synonyms:exact_synonym: SPG49;   autosomal recessive spastic paraplegia 49;   autosomal recessive spastic paraplegia type 49
 primary_id: OMIM:615031
 alt_id: OMIA:001975;   RDO:0015784
 xref: ORDO:320385
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 49 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd9 ankyrin repeat domain 9 ISO ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive ClinVar PMID:28492532 NCBI chr 6:135,409,698...135,412,552
Ensembl chr 6:135,410,030...135,412,312
JBrowse link
G Tecpr2 tectonin beta-propeller repeat containing 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive OMIM
ClinVar
PMID:23176824, PMID:25590979, PMID:25741868, PMID:26431026, PMID:26542466, PMID:27406698, PMID:28492532, PMID:28940097 NCBI chr 6:135,304,536...135,405,865
Ensembl chr 6:135,313,008...135,402,814
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          paraplegia 163
            hereditary spastic paraplegia 146
              hereditary spastic paraplegia 49 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          neurodegenerative disease 3201
            Nervous System Heredodegenerative Disorders 1954
              motor peripheral neuropathy 535
                hereditary spastic paraplegia 146
                  hereditary spastic paraplegia 49 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.