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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;   RDO:0002282
 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 OMIM:270700
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Spastic paraplegia 15
ClinVar Annotator: match by term: Hereditary spastic paraplegia 15
OMIM
ClinVar
PMID:6944241 PMID:11342696 PMID:17661097 PMID:18098276 PMID:18394578 PMID:19805727 PMID:19917823 PMID:23733235 PMID:24088041 PMID:24833714 PMID:25133958 PMID:25497598 PMID:25525159 PMID:25741868 PMID:26467025 PMID:26633545 PMID:27217339 PMID:27544497 PMID:28492532 PMID:31108397 NCBI chr 6:102,409,235...102,472,962
Ensembl chr 6:102,409,881...102,472,926
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    sensory system disease 5248
      eye disease 2673
        eye degenerative disease 467
          retinal degeneration 465
            hereditary spastic paraplegia 15 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        central nervous system disease 9099
          neurodegenerative disease 3220
            Nervous System Heredodegenerative Disorders 1911
              motor peripheral neuropathy 522
                hereditary spastic paraplegia 131
                  hereditary spastic paraplegia 15 1
paths to the root