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
ISO
RGD
PMID:21771203 PMID:23999580
RGD:5148008 , RGD:8696028
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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Il6
interleukin 6
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Vps37a
vacuolar protein sorting 37A
ISO
ClinVar Annotator: match by term: Idiopathic transverse myelitis
ClinVar
PMID:25741868 PMID:28492532 PMID:29473047
NCBI chr 8:40,964,482...41,004,175
Ensembl chr 8:40,964,824...41,003,798
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Aqp4
aquaporin 4
disease_progression
ISO IDA IEP IMP
DNA:polymorphism:promoter:-1003A>G(human) associated withHiccup; CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18509235 PMID:24070676 PMID:16087714 PMID:20047900 PMID:23995423 PMID:23890015 PMID:23116879 PMID:18420727 PMID:22271321 PMID:22271321 PMID:22271321 More...
RGD:5148024 , RGD:5148032 , RGD:8695993 , RGD:8696026 , RGD:8696032 , RGD:8696033 , RGD:8696034 , RGD:8696034 , RGD:8696034
NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
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Cd59b
CD59b antigen
severity
ISO
RGD
PMID:28212662
RGD:13792592
NCBI chr 2:103,900,127...103,920,619
Ensembl chr 2:103,896,142...103,921,534
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Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr11:102,778,162...102,791,368
Ensembl chr11:102,778,162...102,791,738
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*0402 (human) DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD
PMID:21908482 PMID:27049564
RGD:7421588 , RGD:11530523
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
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 chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Il21
interleukin 21
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:23041403
RGD:127285589
NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785
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Il6
interleukin 6
severity
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Mbp
myelin basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum
RGD
PMID:21621856
RGD:8547883
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Nefh
neurofilament, heavy polypeptide
ISO
protein:increased expression:serum:
RGD
PMID:23316360
RGD:27226805
NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064
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Nefl
neurofilament, light polypeptide
ISO
protein:increased expression:serum (human)
RGD
PMID:33317883
RGD:127285024
NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
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S100b
S100 protein, beta polypeptide, neural
ISO
RGD
PMID:21371524
RGD:5508767
NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
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