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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 5A
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Accession:DOID:0110810 term browser browse the term
Definition:A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. (DO)
Synonyms:exact_synonym: SPG5A;   autosomal recessive spastic paraplegia 5A;   autosomal recessive spastic paraplegia type 5A
 primary_id: MESH:C536871;   MESH:C564811
 alt_id: OMIM:270800
 xref: GARD:4926;   ORDO:100986
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 5A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr 2:236,414,131...236,431,650
Ensembl chr 2:236,414,135...236,431,683
JBrowse link
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:270800
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7987300 PMID:9802883 PMID:12874406 PMID:15007371 PMID:18252231 PMID:18855023 PMID:19187859 PMID:19439420 PMID:19812052 PMID:21214876 PMID:21452256 PMID:21541746 PMID:21567895 PMID:21623769 PMID:21966169 PMID:22384504 PMID:23812641 PMID:24033266 PMID:24117163 PMID:24340040 PMID:24519355 PMID:24658845 PMID:24927729 PMID:25326635 PMID:25326637 PMID:25525159 PMID:25741868 PMID:26370385 PMID:26374131 PMID:26467025 PMID:26714052 PMID:27077743 PMID:27217339 PMID:27879216 PMID:27957547 PMID:28492532 PMID:28832565 PMID:30311386 NCBI chr 2:102,701,903...102,871,257
Ensembl chr 2:102,701,903...102,871,257
JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
ClinVar PMID:25741868 PMID:28492532 PMID:29453417 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
JBrowse link
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:21981780 PMID:25741868 PMID:28492532 NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219
JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link

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 5A 6
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 5A 6
paths to the root