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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: HSAN9;   INHERITED SPASTIC PARESIS;   SPG49;   autosomal recessive spastic paraplegia 49;   autosomal recessive spastic paraplegia type 49;   hereditary sensory and autonomic neuropathy type IX, with developmental delay
 primary_id: OMIM:615031
 alt_id: OMIA:001975
 xref: ORDO:320385


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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 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 ClinVar PMID:28492532 NCBI chr14:102,501,767...102,509,776
Ensembl chr14:102,501,767...102,509,799 		JBrowse link
G LOC130056519 ATAC-STARR-seq lymphoblastoid silent region 6116 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 ClinVar PMID:23176824 PMID:25590979 PMID:25741868 PMID:28492532 NCBI chr14:102,438,109...102,438,158 JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 IAGP
EXP		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 49
ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inherited spastic paresis		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23176824 PMID:25590979 More... NCBI chr14:102,362,941...102,502,477
Ensembl chr14:102,362,941...102,502,477 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        Nervous System Malformations 3148
          hereditary sensory neuropathy 100
            hereditary spastic paraplegia 49 3
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          neurodegenerative disease 6568
            Nervous System Heredodegenerative Disorders 4549
              motor peripheral neuropathy 1566
                hereditary spastic paraplegia 568
                  hereditary spastic paraplegia 49 3
paths to the root