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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 35
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Accession:DOID:0110786 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1. (DO)
Synonyms:exact_synonym: FAHN;   Fatty Acid Hydroxylase-Associated Neurodegeneration;   LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT DYSTONIA;   SPG35;   autosomal recessive spastic paraplegia 35;   autosomal recessive spastic paraplegia type 35;   dysmyelinating leukodystrophy and spastic paraparesis;   spastic paraplegia 35;   spastic paraplegia type 35
 primary_id: MESH:C567311;   MESH:C580102
 alt_id: OMIM:612319
 xref: ORDO:171629
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 35 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fa2h fatty acid 2-hydroxylase ISO ClinVar Annotator: match by term: Spastic paraplegia 35 OMIM
ClinVar
PMID:18414213 PMID:19068277 PMID:20104589 PMID:20853438 PMID:22146942 PMID:23745665 PMID:23812641 PMID:24299421 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:43,545,380...43,596,788
Ensembl chr19:43,545,378...43,596,801
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          paraplegia 151
            hereditary spastic paraplegia 135
              hereditary spastic paraplegia 35 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          neurodegenerative disease 3216
            Nervous System Heredodegenerative Disorders 1915
              motor peripheral neuropathy 526
                hereditary spastic paraplegia 135
                  hereditary spastic paraplegia 35 1
paths to the root