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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 79A
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Accession:DOID:0070455 term browser browse the term
Definition:A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. (DO)
Synonyms:exact_synonym: SPG79A;   autosomal dominant spastic paraplegia 79A;   autosomal dominant spastic paraplegia 79A, with ataxia
 primary_id: MIM:620221


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hereditary spastic paraplegia 79A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:35986737 PMID:37650884 NCBI chr14:41,485,031...41,495,590
Ensembl chr14:41,485,031...41,495,590 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          paraplegia 692
            hereditary spastic paraplegia 453
              hereditary spastic paraplegia 79A 1
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          neurodegenerative disease 5002
            Nervous System Heredodegenerative Disorders 3348
              motor peripheral neuropathy 1287
                hereditary spastic paraplegia 453
                  hereditary spastic paraplegia 79A 1
paths to the root