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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 1 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39
ClinVar PMID:26467025, PMID:28492532 NCBI chr12:2,054,629...2,068,682
Ensembl chr12:2,054,680...2,068,682
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by OMIM:612020
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
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:18313024, PMID:20603202, PMID:24355708, PMID:25133958, PMID:25480986, PMID:25574898, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28559085, PMID:29221171, PMID:30097146, PMID:31048186, PMID:31135245 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          paraplegia 163
            hereditary spastic paraplegia 147
              hereditary spastic paraplegia 39 2
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          neurodegenerative disease 3186
            Nervous System Heredodegenerative Disorders 1947
              motor peripheral neuropathy 537
                hereditary spastic paraplegia 147
                  hereditary spastic paraplegia 39 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.