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 5A
Accession: DOID:0110810
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Definition: A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. (DO)
Synonyms: exact_synonym: SPG5A; autosomal recessive spastic paraplegia 5A; autosomal recessive spastic paraplegia type 5A
broad_synonym: CYP7B1-related condition
xref: GARD:4926 ; MESH:C536871 ; MESH:C564811 ; MIM:270800 ; MONDO:0010047 ; ORDO:100986
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Aldh18a1
aldehyde dehydrogenase 18 family, member A1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:249,325,082...249,357,383
Ensembl chr 1:249,325,082...249,357,383
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C1h19orf12
similar to human chromosome 19 open reading frame 12
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
ClinVar
PMID:21981780 PMID:25741868 PMID:28492532 PMID:39825153
NCBI chr 1:100,010,280...100,023,907
Ensembl chr 1:100,010,323...100,023,903
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Cyp2u1
cytochrome P450, family 2, subfamily u, polypeptide 1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
ClinVar
PMID:25741868
NCBI chr 2:222,523,516...222,541,055
Ensembl chr 2:222,523,518...222,541,124
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Cyp7b1
cytochrome P450 family 7 subfamily B member 1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
OMIM ClinVar
PMID:1943942 PMID:7987300 PMID:9536098 PMID:9802883 PMID:12874406 PMID:15007371 PMID:16199547 PMID:17503452 PMID:17576681 PMID:18252231 PMID:18367963 PMID:18855023 PMID:19187859 PMID:19363635 PMID:19439320 PMID:19439420 PMID:19812052 PMID:21214876 PMID:21452256 PMID:21541746 PMID:21567895 PMID:21623769 PMID:21966169 PMID:22384504 PMID:22652365 PMID:23812641 PMID:24033266 PMID:24117163 PMID:24340040 PMID:24482476 PMID:24519355 PMID:24641183 PMID:24658845 PMID:24927729 PMID:25324891 PMID:25326635 PMID:25525159 PMID:25741868 PMID:26370385 PMID:26374131 PMID:26467025 PMID:26714052 PMID:27077743 PMID:27084228 PMID:27217339 PMID:27879216 PMID:27879220 PMID:27957547 PMID:28039895 PMID:28492532 PMID:28832565 PMID:29126212 PMID:29228183 PMID:29246610 PMID:29482223 PMID:29980238 PMID:31227335 PMID:31407473 PMID:31589614 PMID:31692161 PMID:31980526 PMID:32153140 PMID:32202070 PMID:33160247 PMID:34234304 PMID:34426522 PMID:34782662 PMID:34983064 PMID:35578252 PMID:37712079 More...
NCBI chr 2:102,419,011...102,586,047
Ensembl chr 2:102,419,011...102,451,804
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Gba2
glucosylceramidase beta 2
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
ClinVar
PMID:25741868 PMID:28492532 PMID:29453417
NCBI chr 5:62,618,176...62,630,160
Ensembl chr 5:62,618,177...62,630,308
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Mcoln1
mucolipin TRP cation channel 1
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
ClinVar
PMID:25741868
NCBI chr12:6,357,851...6,372,151
Ensembl chr12:6,357,807...6,372,151
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Reep2
receptor accessory protein 2
ISO
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
ClinVar
PMID:28492532
NCBI chr18:26,712,236...26,721,275
Ensembl chr18:26,712,426...26,721,278
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