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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: INHERITED SPASTIC PARESIS;   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: Autosomal recessive spastic paraplegia type 49
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 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        central nervous system disease 9061
          paraplegia 145
            hereditary spastic paraplegia 132
              hereditary spastic paraplegia 49 2
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        central nervous system disease 9061
          neurodegenerative disease 3215
            Nervous System Heredodegenerative Disorders 1912
              motor peripheral neuropathy 523
                hereditary spastic paraplegia 132
                  hereditary spastic paraplegia 49 2
paths to the root