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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 87
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Accession:DOID:0070456 term browser browse the term
Definition:A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. (DO)
Synonyms:exact_synonym: SPG87;   autosomal recessive spastic paraplegia 87
 primary_id: OMIM:619966
 alt_id: DOID:9003756


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hereditary spastic paraplegia 87 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem63c transmembrane protein 63c ISO ClinVar Annotator: match by term: Spastic paraplegia 87, autosomal recessive OMIM
ClinVar		 PMID:35718349 NCBI chr 6:106,667,389...106,738,778
Ensembl chr 6:106,672,934...106,736,990 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          paraplegia 562
            hereditary spastic paraplegia 445
              hereditary spastic paraplegia 87 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          neurodegenerative disease 4894
            Nervous System Heredodegenerative Disorders 3248
              motor peripheral neuropathy 1202
                hereditary spastic paraplegia 445
                  hereditary spastic paraplegia 87 1
paths to the root