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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 90B
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Accession:DOID:0070460 term browser browse the term
Definition:A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1. (DO)
Synonyms:exact_synonym: SPG90B;   spastic paraplegia 90B, autosomal recessive
 broad_synonym: SPTSSA-RELATED CONDITION
 primary_id: MIM:620417


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hereditary spastic paraplegia 90B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTSSA serine palmitoyltransferase small subunit A ISO ClinVar Annotator: match by term: Spastic paraplegia 90B, autosomal recessive OMIM
ClinVar		 NCBI chr 7:65,302,887...65,325,877
Ensembl chr 7:65,302,858...65,326,728 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15279
    disease of anatomical entity 14927
      nervous system disease 13022
        central nervous system disease 11656
          paraplegia 561
            hereditary spastic paraplegia 441
              hereditary spastic paraplegia 90B 1
Path 2
Term Annotations click to browse term
  disease 15279
    disease of anatomical entity 14927
      nervous system disease 13022
        central nervous system disease 11656
          neurodegenerative disease 4675
            Nervous System Heredodegenerative Disorders 3209
              motor peripheral neuropathy 1185
                hereditary spastic paraplegia 441
                  hereditary spastic paraplegia 90B 1
paths to the root