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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 39
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Accession:DOID:0110790 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: NTE-related motor neuron disorder;   NTEMND;   SPG39;   autosomal recessive spastic paraplegia 39;   autosomal recessive spastic paraplegia type 39;   spastic paraplegia 39;   spastic paraplegia due to NTE mutation;   spastic paraplegia due to neuropathy target esterase mutation
 primary_id: MESH:C567433
 alt_id: OMIM:612020
 xref: GARD:4924;   ORDO:139480
For additional species annotation, visit the Alliance of Genome Resources.



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hereditary spastic paraplegia 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: NTE related motor neuron disorder OMIM
ClinVar
PMID:3963113 PMID:8053762 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          paraplegia 262
            hereditary spastic paraplegia 227
              hereditary spastic paraplegia 39 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          neurodegenerative disease 3870
            Nervous System Heredodegenerative Disorders 2364
              motor peripheral neuropathy 673
                hereditary spastic paraplegia 227
                  hereditary spastic paraplegia 39 2
paths to the root