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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 15
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Accession:DOID:0110768 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1. (DO)
Synonyms:exact_synonym: Kjellin syndrome;   SPG15;   autosomal recessive spastic paraplegia 15;   autosomal recessive spastic paraplegia type 15;   hereditary spastic paraparesis type 15;   recessive spastic paraplegia with retinal degeneration;   spastic paraplegia 15;   spastic paraplegia and retinal degeneration;   spastic paraplegia-retinal degeneration syndrome
 primary_id: MESH:C536642
 alt_id: OMIM:270700
 xref: GARD:9581;   ORDO:100996
For additional species annotation, visit the Alliance of Genome Resources.



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hereditary spastic paraplegia 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: Recessive spastic paraplegia with retinal degeneration OMIM
ClinVar
PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 PMID:17661097 More... NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    sensory system disease 6555
      eye disease 3185
        eye degenerative disease 529
          retinal degeneration 527
            hereditary spastic paraplegia 15 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          neurodegenerative disease 3879
            Nervous System Heredodegenerative Disorders 2374
              motor peripheral neuropathy 678
                hereditary spastic paraplegia 226
                  hereditary spastic paraplegia 15 1
paths to the root