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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 7
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Accession:DOID:0110816 term browser browse the term
Definition:A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24. (DO)
Synonyms:exact_synonym: SPG7;   SPG7-RELATED CONDITION;   autosomal recessive spastic paraplegia 7;   hereditary spastic paraplegia, paraplegin type;   spastic paraplegia 7;   spastic paraplegia type 7
 primary_id: MESH:C564599;   MESH:C580457
 alt_id: OMIM:607259
 xref: NCI:C181657;   ORDO:99013


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hereditary spastic paraplegia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type ClinVar PMID:25326637 PMID:28492532 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G LOC101448202 uncharacterized LOC101448202 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type ClinVar PMID:25326637 PMID:28492532 NCBI chr 9:134,819,415...134,872,618 JBrowse link
G LOC130059818 ATAC-STARR-seq lymphoblastoid silent region 7911 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7
ClinVar Annotator: match by term: SPG7-related condition
ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 | ClinVar Annotator: match by term: SPG7-related condition		 ClinVar PMID:9635427 PMID:14985266 PMID:16534102 PMID:21623769 PMID:22571692 More... NCBI chr16:89,508,187...89,508,746 JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISS OMIM:607259 MouseDO NCBI chr16:89,490,970...89,499,282
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP
EXP		 ClinVar Annotator: match by term: Hereditary spastic paraplegia 7
ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 | ClinVar Annotator: match by term: SPG7-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2779008 PMID:9536098 PMID:9634528 PMID:9635427 PMID:11222789 More... NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		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
        central nervous system disease 23468
          paraplegia 718
            hereditary spastic paraplegia 568
              hereditary spastic paraplegia 7 5
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 6566
            Nervous System Heredodegenerative Disorders 4547
              motor peripheral neuropathy 1566
                hereditary spastic paraplegia 568
                  hereditary spastic paraplegia 7 5
paths to the root