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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 47
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Accession:DOID:0110799 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. (DO)
Synonyms:exact_synonym: CPSQ5;   SPG47;   autosomal recessive spastic paraplegia 47;   spastic quadriplegic cerebral palsy 5
 primary_id: OMIM:614066
 xref: ORDO:280763
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap4b1 adaptor related protein complex 4 subunit beta 1 ISO ClinVar Annotator: match by OMIM:614066
ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive
OMIM
ClinVar
PMID:18414213, PMID:19559397, PMID:20972249, PMID:21440262, PMID:21620353, PMID:22290197, PMID:23167973, PMID:23472171, PMID:24395635, PMID:24700674, PMID:24781758, PMID:25167861, PMID:25552650, PMID:25693842, PMID:25741868, PMID:26544806, PMID:28492532, PMID:29193663, PMID:30311386 NCBI chr 2:206,293,679...206,305,705
Ensembl chr 2:206,293,720...206,305,702
JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive ClinVar PMID:28492532 NCBI chr 2:206,285,085...206,293,599
Ensembl chr 2:206,285,089...206,293,599
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          paraplegia 163
            hereditary spastic paraplegia 146
              hereditary spastic paraplegia 47 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          neurodegenerative disease 3201
            Nervous System Heredodegenerative Disorders 1954
              motor peripheral neuropathy 535
                hereditary spastic paraplegia 146
                  hereditary spastic paraplegia 47 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.