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: transverse myelitis
Accession: DOID:0080743
browse the term
Definition: A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below. (DO)
Synonyms: exact_synonym: Demyelinative Myelitis; Necrotizing Myelitis; Paraneoplastic Myelitis; Postinfectious Myelitis; Postvaccinal Myelitis; Subacute Transverse Myelitis; acute transverse myelitis; subacute transverse myelitides; transverse myelopathy syndrome; transverse myelopathy syndromes
narrow_synonym: IDIOPATHIC TRANSVERSE MYELITIS
primary_id: MESH:D009188
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AQP4
aquaporin 4
IDA
RGD
PMID:21771203 PMID:23999580
RGD:5148008 , RGD:8696028
NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
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IL6
interleukin 6
IEP
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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VPS37A
VPS37A subunit of ESCRT-I
IAGP
ClinVar Annotator: match by term: Idiopathic transverse myelitis
ClinVar
PMID:25741868 PMID:28492532 PMID:29473047
NCBI chr 8:17,246,958...17,333,455
Ensembl chr 8:17,246,931...17,302,427
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AQP4
aquaporin 4
disease_progression
IDA EXP ISO IAGP
CTD Direct Evidence: marker/mechanism associated withHiccup; DNA:polymorphism:promoter:-1003A>G(human)
CTD RGD
PMID:18509235 PMID:24070676 PMID:16087714 PMID:22271321 PMID:18420727 PMID:23116879 PMID:23890015 PMID:23995423 PMID:20047900 More...
RGD:5148024 , RGD:8696034 , RGD:8696033 , RGD:8696032 , RGD:8696026 , RGD:8695993 , RGD:5148032
NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
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CD59
CD59 molecule (CD59 blood group)
severity
ISO
RGD
PMID:28212662
RGD:13792592
NCBI chr11:33,703,010...33,736,479
Ensembl chr11:33,703,010...33,736,479
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GFAP
glial fibrillary acidic protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
IAGP
DNA:polymorphism:cds:HLA-DQB1*0402 (human) DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD
PMID:21908482 PMID:27049564
RGD:7421588 , RGD:11530523
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
susceptibility
IAGP
DNA:polymorphism (human) DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD
PMID:21748712 PMID:27049564
RGD:5147590 , RGD:11530523
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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IL21
interleukin 21
IEP
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:23041403
RGD:127285589
NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
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IL32
interleukin 32
exacerbates
IEP
protein:increased expression:blood plasma (human)
RGD
PMID:23180362
RGD:150340728
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
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IL6
interleukin 6
severity
IEP
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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MBP
myelin basic protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683
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MMP9
matrix metallopeptidase 9
IEP
protein:increased expression:serum
RGD
PMID:21621856
RGD:8547883
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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NEFH
neurofilament heavy chain
IEP
protein:increased expression:serum:
RGD
PMID:23316360
RGD:27226805
NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
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NEFL
neurofilament light chain
IEP
protein:increased expression:serum (human)
RGD
PMID:33317883
RGD:127285024
NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
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S100B
S100 calcium binding protein B
IEP
RGD
PMID:21371524
RGD:5508767
NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
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