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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 86
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Accession:DOID:0112342 term browser browse the term
Definition:A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33. (DO)
Synonyms:exact_synonym: SPG86;   spastic paraplegia 86 autosomal recessive
 primary_id: OMIM:619735
 alt_id: DOID:9000731


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hereditary spastic paraplegia 86 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16a abhydrolase domain containing 16A, phospholipase ISO ClinVar Annotator: match by term: Spastic paraplegia 86, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:34587489 PMID:34866177 NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        central nervous system disease 12429
          paraplegia 562
            hereditary spastic paraplegia 445
              hereditary spastic paraplegia 86 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        central nervous system disease 12429
          neurodegenerative disease 4902
            Nervous System Heredodegenerative Disorders 3254
              motor peripheral neuropathy 1201
                hereditary spastic paraplegia 445
                  hereditary spastic paraplegia 86 1
paths to the root