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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 33
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Accession:DOID:0110784 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: SPG33;   autosomal dominant spastic paraplegia 33
 narrow_synonym: SPASTIC TETRAPARESIS
 primary_id: MESH:C565214
 alt_id: OMIM:610244;   RDO:0011968
For additional species annotation, visit the Alliance of Genome Resources.

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hereditary spastic paraplegia 33 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:10711710 PMID:11328725 PMID:11702214 PMID:21911583 PMID:22264887 PMID:22995991 PMID:26103963 PMID:27014590 PMID:28118664 PMID:28492532 PMID:30311386 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287 		JBrowse link
G Ap4m1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar NCBI chr12:19,314,222...19,320,339
Ensembl chr12:19,314,251...19,320,142 		JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:30311386 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198 		JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 PMID:24461907 PMID:25058219 PMID:25288793 PMID:25741868 PMID:25911677 PMID:26060307 PMID:26633545 PMID:27290639 PMID:28058511 PMID:28492532 PMID:30311386 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408 		JBrowse link
G Phf8 PHD finger protein 8 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:30311386 NCBI chr  X:21,063,487...21,168,750
Ensembl chr  X:21,063,562...21,168,750 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:28492532 PMID:30311386 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055 		JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:10581036 PMID:10947946 PMID:11992753 PMID:12359136 PMID:12794687 PMID:12794688 PMID:15510212 PMID:15516337 PMID:18695252 PMID:20301643 PMID:21781115 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 8:85,891,245...85,926,466
Ensembl chr 8:85,891,257...85,926,450 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:30311386 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468 		JBrowse link
G Zfyve27 zinc finger FYVE-type containing 27 ISO ClinVar Annotator: match by term: Spastic tetraparesis
ClinVar Annotator: match by term: Spastic paraplegia 33, autosomal dominant		 OMIM
ClinVar		 PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28492532 PMID:30311386 PMID:30564185 NCBI chr 1:261,415,172...261,438,539
Ensembl chr 1:261,415,191...261,438,539 		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 33 9
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 33 9
paths to the root