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 11
Accession: DOID:0110764
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Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. (DO)
Synonyms: exact_synonym: Hsp-Tcc; Nakamura-Osame syndrome; SPG11; SPG11-related hereditary spastic paraplegia with thin corpus callosum; Spastic paraplegia, mental retardation and thin corpus callosum; autosomal recessive spastic paraplegia 11; autosomal recessive spastic paraplegia complicated with thin corpus callosum; autosomal recessive spastic paraplegia type 11; autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum; spastic paraplegia type 11; spastic paraplegia-intellectual disability-thin corpus callosum syndrome
narrow_synonym: GAIT DISTURBANCE
primary_id: MESH:C537483
alt_id: MESH:C538335 ; OMIM:604360
xref: GARD:4919 ; ORDO:2822
For additional species annotation, visit the
Alliance of Genome Resources .
G
B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11
ClinVar
PMID:28492532
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Eif3j
eukaryotic translation initiation factor 3, subunit J
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11
ClinVar
NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953
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Patl2
PAT1 homolog 2
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11
ClinVar
PMID:19105190 PMID:20110243 PMID:22154821 PMID:28492532
NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
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Scn1a
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Gait disturbance
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Spg11
SPG11 vesicle trafficking associated, spatacsin
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11
OMIM ClinVar
PMID:2795747 PMID:9536098 PMID:16199547 PMID:16773502 PMID:17322883 PMID:17576681 PMID:17717710 PMID:18067136 PMID:18079167 PMID:18332254 PMID:18337587 PMID:18361476 PMID:18408091 PMID:18414213 PMID:18439221 PMID:18586399 PMID:18663179 PMID:18717728 PMID:18835492 PMID:19087158 PMID:19105190 PMID:19194956 PMID:19196735 PMID:19438933 PMID:19466474 PMID:19513778 PMID:19763152 PMID:19917823 PMID:20110243 PMID:20301389 PMID:20307669 PMID:20390432 PMID:20571989 PMID:21035867 PMID:21625935 PMID:22154821 PMID:22175763 PMID:22237444 PMID:22246010 PMID:22406018 PMID:22696581 PMID:23043354 PMID:23121729 PMID:23443022 PMID:23733235 PMID:23881933 PMID:24033266 PMID:24090761 PMID:24451228 PMID:24482476 PMID:24731568 PMID:24833714 PMID:25059394 PMID:25174650 PMID:25299611 PMID:25326635 PMID:25525159 PMID:25588603 PMID:25640679 PMID:25741868 PMID:26064709 PMID:26183056 PMID:26374131 PMID:26467025 PMID:26539891 PMID:26556829 PMID:26601740 PMID:26633542 PMID:26671123 PMID:26742954 PMID:27066562 PMID:27071356 PMID:27077743 PMID:27084228 PMID:27217339 PMID:27256065 PMID:27318863 PMID:27457812 PMID:27544499 PMID:27790088 PMID:27884173 PMID:27900367 PMID:27904835 PMID:27957547 PMID:28130640 PMID:28160950 PMID:28492532 PMID:28554332 PMID:28832565 PMID:29246610 PMID:29342275 PMID:29389947 PMID:29525178 PMID:29691679 PMID:29732542 PMID:29908077 PMID:29980238 PMID:30212743 PMID:30363882 PMID:30373780 PMID:30778698 PMID:31289639 PMID:31407473 PMID:31589614 PMID:31692161 PMID:32166880 PMID:32214227 PMID:32409511 PMID:32860008 PMID:32989326 PMID:34906502 More...
NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
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Tbr1
T-box brain transcription factor 1
ISO
ClinVar Annotator: match by term: Gait disturbance
ClinVar
PMID:25741868
NCBI chr 3:46,350,237...46,368,397
Ensembl chr 3:46,351,213...46,361,041
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Trim69
tripartite motif-containing 69
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11
ClinVar
PMID:28492532
NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037
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