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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 6
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Accession:DOID:0110811 term browser browse the term
Definition:A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2. (DO)
Synonyms:exact_synonym: FSP3;   NIPA1-RELATED CONDITION;   SPG6;   autosomal dominant familial spastic paraplegia type 3;   autosomal dominant spastic paraplegia 6;   autosomal dominant spastic paraplegia type 6;   familial spastic paraplegia, autosomal dominant 3;   spastic paraplegia 6
 primary_id: MESH:C536866
 alt_id: OMIM:600363
 xref: ICD10CM:G11.4;   ORDO:100988


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hereditary spastic paraplegia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386 		JBrowse link
G Nipa1 NIPA magnesium transporter 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 | ClinVar Annotator: match by term: NIPA1-related condition		 OMIM
CTD
ClinVar		 PMID:7825577 PMID:14508710 PMID:15643603 PMID:15711826 PMID:16267846 More... NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790 		JBrowse link
G Nipa2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr 1:106,799,979...106,824,206
Ensembl chr 1:106,800,903...106,824,126 		JBrowse link
G Tubgcp5 tubulin gamma complex component 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr 1:106,636,526...106,672,175
Ensembl chr 1:106,636,526...106,672,175 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          paraplegia 562
            hereditary spastic paraplegia 445
              hereditary spastic paraplegia 6 4
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          neurodegenerative disease 4906
            Nervous System Heredodegenerative Disorders 3255
              motor peripheral neuropathy 1201
                hereditary spastic paraplegia 445
                  hereditary spastic paraplegia 6 4
paths to the root