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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   neuromyelitis optica
  

Disease ID 178
Disease neuromyelitis optica
Definition
A syndrome characterized by acute OPTIC NEURITIS; MYELITIS, TRANSVERSE; demyelinating and/or necrotizing lesions in the OPTIC NERVES and SPINAL CORD; and presence of specific autoantibodies to AQUAPORIN 4.
Synonym
devic dis
devic disease
devic neuromyelitis optica
devic neuromyelitis opticas
devic syndrome
devic's disease
devic's neuromyelitis optica
devic's syndrome
devics dis
devics disease
devics neuromyelitis optica
devics syndrome
disease, devic
disease, devic's
myelitis, optic neuritis in
neuroencephalomyelopathy, optic
neuromyelitis optica (disorder)
neuromyelitis optica (nmo) spectrum disorder
neuromyelitis optica (nmo) spectrum disorders
neuromyelitis optica [disease/finding]
neuromyelitis optica spectrum disorder
neuromyelitis optica spectrum disorders
neuromyelitis optica, devic
neuromyelitis optica, devic's
neuromyelitis opticas, devic
nmo spectrum disorder
nmo spectrum disorders
ophthalmoneuromyelitis
optic neuromyelitis
smon - subacute myelo-optico-neuropathy
syndrome, devic
syndrome, devic's
Orphanet
DOID
UMLS
C0027873
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:59)
C0027813  |  neuritis  |  8
C0029134  |  optic neuritis  |  8
C0021053  |  immune disease  |  6
C0026769  |  multiple sclerosis  |  5
C1527336  |  sjogren's syndrome  |  5
C0026975  |  myelitis  |  5
C0409974  |  lupus erythematosus  |  5
C0024141  |  systemic lupus erythematosus  |  5
C1527336  |  sjogren syndrome  |  4
C0009782  |  connective tissue disease  |  4
C0026896  |  myasthenia gravis  |  3
C0029089  |  ophthalmoplegia  |  2
C0152134  |  internuclear ophthalmoplegia  |  2
C0041296  |  tuberculosis  |  2
C0011633  |  dermatomyositis  |  2
C0011570  |  depression  |  2
C0014038  |  encephalitis  |  2
C0151332  |  active tuberculosis  |  1
C0021141  |  syndrome of inappropriate secretion of antidiuretic hormone  |  1
C0004623  |  bacterial infection  |  1
C0748540  |  limited cutaneous systemic sclerosis  |  1
C0751878  |  cns vasculitis  |  1
C0026654  |  moyamoya  |  1
C0021053  |  immune disorder  |  1
C0030807  |  pemphigus  |  1
C0026654  |  moyamoya disease  |  1
C0020255  |  hydrocephalus  |  1
C0019196  |  hepatitis c infection  |  1
C0019196  |  hepatitis c  |  1
C0002878  |  hemolytic anemia  |  1
C0027059  |  myocarditis  |  1
C1328840  |  autoimmune lymphoproliferative syndrome  |  1
C0042384  |  vasculitis  |  1
C0008049  |  varicella  |  1
C0004623  |  bacterial infections  |  1
C0021053  |  immune disorders  |  1
C0021141  |  syndrome of inappropriate antidiuretic hormone secretion  |  1
C0041327  |  pulmonary tuberculosis  |  1
C0034372  |  quadriplegia  |  1
C0001824  |  agranulocytosis  |  1
C0026272  |  mixed connective tissue disease  |  1
C0025309  |  meningoencephalitis  |  1
C0019158  |  hepatitis  |  1
C0456909  |  blindness  |  1
C0036202  |  sarcoidosis  |  1
C0021400  |  influenza  |  1
C0036421  |  systemic sclerosis  |  1
C0002871  |  anemia  |  1
C0007570  |  celiac disease  |  1
C0152176  |  trochlear nerve palsy  |  1
C0011603  |  dermatitis  |  1
C0742472  |  cns lymphoma  |  1
C0242343  |  panhypopituitarism  |  1
C0011608  |  dermatitis herpetiformis  |  1
C0030486  |  paraplegia  |  1
C0004712  |  balo's concentric sclerosis  |  1
C0002880  |  autoimmune hemolytic anemia  |  1
C0019360  |  zoster  |  1
C0031117  |  peripheral neuropathy  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
2670  |  GFAP  |  CTD_human
361  |  AQP4  |  CTD_human
4155  |  MBP  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:4)
1581  |  CYP7A1  |  CIPHER
361  |  AQP4  |  CTD_human
4155  |  MBP  |  CTD_human
2670  |  GFAP  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:59)
159  |  ADSS  |  1.428  |  DISEASES
3267  |  AGFG1  |  3.204  |  DISEASES
273  |  AMPH  |  1.378  |  DISEASES
51378  |  ANGPT4  |  1.62  |  DISEASES
361  |  AQP4  |  8.845  |  DISEASES
716  |  C1S  |  1.271  |  DISEASES
133491  |  C5orf47  |  3.694  |  DISEASES
930  |  CD19  |  3.024  |  DISEASES
959  |  CD40LG  |  2.459  |  DISEASES
1043  |  CD52  |  1.834  |  DISEASES
965  |  CD58  |  1.08  |  DISEASES
966  |  CD59  |  2.471  |  DISEASES
30850  |  CDR2L  |  2.177  |  DISEASES
1041  |  CDSN  |  1.843  |  DISEASES
9023  |  CH25H  |  1.699  |  DISEASES
6900  |  CNTN2  |  2.692  |  DISEASES
26047  |  CNTNAP2  |  2.205  |  DISEASES
9547  |  CXCL14  |  1.506  |  DISEASES
2833  |  CXCR3  |  1.455  |  DISEASES
51428  |  DDX41  |  3.593  |  DISEASES
79947  |  DHDDS  |  1.137  |  DISEASES
115352  |  FCRL3  |  1.901  |  DISEASES
2705  |  GJB1  |  1.477  |  DISEASES
57165  |  GJC2  |  2.448  |  DISEASES
57120  |  GOPC  |  1.575  |  DISEASES
2262  |  GPC5  |  1.191  |  DISEASES
3115  |  HLA-DPB1  |  2.394  |  DISEASES
3118  |  HLA-DQA2  |  1.327  |  DISEASES
3123  |  HLA-DRB1  |  2.194  |  DISEASES
3146  |  HMGB1  |  1.063  |  DISEASES
10437  |  IFI30  |  1.334  |  DISEASES
3456  |  IFNB1  |  4.46  |  DISEASES
3586  |  IL10  |  1.597  |  DISEASES
3605  |  IL17A  |  3.075  |  DISEASES
133396  |  IL31RA  |  1.309  |  DISEASES
3570  |  IL6R  |  1.622  |  DISEASES
3766  |  KCNJ10  |  3.269  |  DISEASES
9211  |  LGI1  |  2.367  |  DISEASES
4099  |  MAG  |  1.852  |  DISEASES
6885  |  MAP3K7  |  1.405  |  DISEASES
4155  |  MBP  |  3.93  |  DISEASES
4340  |  MOG  |  6.065  |  DISEASES
4593  |  MUSK  |  1.932  |  DISEASES
23114  |  NFASC  |  2.019  |  DISEASES
344022  |  NOTO  |  1.16  |  DISEASES
4835  |  NQO2  |  1.129  |  DISEASES
23596  |  OPN3  |  2.983  |  DISEASES
5032  |  P2RY11  |  1.419  |  DISEASES
5223  |  PGAM1  |  1.223  |  DISEASES
23533  |  PIK3R5  |  1.549  |  DISEASES
10687  |  PNMA2  |  2.233  |  DISEASES
64078  |  SLC28A3  |  1.24  |  DISEASES
6696  |  SPP1  |  1.237  |  DISEASES
8887  |  TAX1BP1  |  3.18  |  DISEASES
7124  |  TNF  |  1.34  |  DISEASES
8741  |  TNFSF13  |  1.36  |  DISEASES
10673  |  TNFSF13B  |  3.398  |  DISEASES
84107  |  ZIC4  |  1.636  |  DISEASES
80095  |  ZNF606  |  3.694  |  DISEASES
Locus(Waiting for update.)
Disease ID 178
Disease neuromyelitis optica
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:18)
HP:0002459  |  Dysautonomia
HP:0001250  |  Seizures
HP:0011277  |  Abnormality of the urinary system physiology
HP:0030057  |  Autoimmune antibody positivity
HP:0002921  |  Abnormality of the cerebrospinal fluid
HP:0003113  |  Hypochloremia
HP:0100561  |  Spinal cord lesion
HP:0100543  |  Cognitive impairment
HP:0002152  |  Hyperproteinemia
HP:0002516  |  Increased intracranial pressure
HP:0002017  |  Nausea and vomiting
HP:0003474  |  Sensory impairment
HP:0002153  |  Hyperkalemia
HP:0000572  |  Visual loss
HP:0002273  |  Tetraparesis
HP:0000739  |  Anxiety
HP:0011893  |  Abnormal leukocyte count
HP:0000836  |  Hyperthyroidism
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:52)
HP:0002960  |  Autoimmune condition  |  10
HP:0100653  |  Optic neuritis  |  8
HP:0012486  |  Inflammation of spinal cord  |  5
HP:0002725  |  Systemic lupus erythematosus  |  4
HP:0003473  |  Fatigable weakness  |  3
HP:0012531  |  Pain  |  3
HP:0000602  |  Ophthalmoplegia  |  2
HP:0002383  |  Encephalitis  |  2
HP:0000716  |  Depression  |  2
HP:0100570  |  Carcinoid tumor  |  2
HP:0100543  |  Cognitive deficits  |  2
HP:0030773  |  Internuclear ophthalmoplegia  |  2
HP:0002268  |  Paroxysmal dystonia  |  2
HP:0011096  |  Demyelination  |  1
HP:0002059  |  Degeneration of cerebrum  |  1
HP:0012234  |  Agranulocytosis  |  1
HP:0011841  |  Ventricular flutter  |  1
HP:0002445  |  Paralysis of all four limbs  |  1
HP:0009830  |  Peripheral neuritis  |  1
HP:0007011  |  Superior oblique palsy  |  1
HP:0002180  |  Neurodegeneration  |  1
HP:0002608  |  Celiac disease  |  1
HP:0000618  |  Blindness  |  1
HP:0003472  |  Hypocalcemic tetany  |  1
HP:0000871  |  Panhypopituitarism  |  1
HP:0001298  |  Encephalopathy  |  1
HP:0012735  |  Coughing  |  1
HP:0001337  |  Tremor  |  1
HP:0001258  |  Spastic paraplegia, lower limb  |  1
HP:0001268  |  Mental deterioration  |  1
HP:0002015  |  Swallowing difficulty  |  1
HP:0000238  |  Nonsyndromal hydrocephalus  |  1
HP:0006846  |  Acute encephalopathy  |  1
HP:0002346  |  Head tremor  |  1
HP:0000989  |  pruritis  |  1
HP:0002664  |  Neoplasia  |  1
HP:0012115  |  Liver inflammation  |  1
HP:0007371  |  Atrophy/Degeneration of the corpus callosum  |  1
HP:0001878  |  Haemolytic anaemia  |  1
HP:0012532  |  Chronic pain  |  1
HP:0002721  |  Immunodeficiency  |  1
HP:0010550  |  Paraplegia  |  1
HP:0012819  |  Myocarditis  |  1
HP:0001890  |  Autoimmune hemolytic anemia  |  1
HP:0012378  |  Fatigue  |  1
HP:0001252  |  Hypotonia  |  1
HP:0002633  |  Vasculitis  |  1
HP:0001317  |  Abnormality of the cerebellum  |  1
HP:0001278  |  Orthostatic hypotension  |  1
HP:0001903  |  Anemia  |  1
HP:0200123  |  Chronic liver inflammation  |  1
HP:0100786  |  Excessive sleepiness  |  1
Disease ID 178
Disease neuromyelitis optica
Manually Symptom
UMLS  | Name(Total Manually Symptoms:7)
C1963179  |  nausea
C1402315  |  vascular lesions
C0694563  |  excessive daytime sleepiness
C0039145  |  syringomyelia
C0029134  |  optic neuritis
C0027404  |  narcolepsy
C0014070  |  encephalomyelitis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:1)
C0029134  |  optic neuritis  |  8
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:10)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs101614024655566361AQP4umls:C0027873BeFreeAlso, we deduced that the G allele of rs1016140 caused an increase of T cell activity, which in turn eased the access of AQP4 antibody into central nervous system (CNS) and ultimately leading to NMO development.0.1485510542014CD581116533925GT
rs12288280229942007132TNFRSF1Aumls:C0027873BeFreeLogistic analyses revealed that one SNP in CD6 (rs12288280, P = 0.04) and three SNPs in TNFRSF1A (rs767455, rs4149577 and rs1800693, P = 0.01-0.03) were associated with NMO.0.0005428842012CD61160988884GT
rs1800693249277857132TNFRSF1Aumls:C0027873BeFreeAmong the 35 SNPs, only one, rs1800693 in the TNFRSF1A locus, was nominally associated with NMO (P = 0.045, OR = 1.550, 95% CI = 1.007-2.384).0.0005428842014TNFRSF1A126330843TC
rs1800693229942007132TNFRSF1Aumls:C0027873BeFreeLogistic analyses revealed that one SNP in CD6 (rs12288280, P = 0.04) and three SNPs in TNFRSF1A (rs767455, rs4149577 and rs1800693, P = 0.01-0.03) were associated with NMO.0.0005428842012TNFRSF1A126330843TC
rs228228426402798115352FCRL3umls:C0027873BeFreeThe Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population.0.0002714422015FCRL31157678753TC
rs376195926402798115352FCRL3umls:C0027873BeFreeThe Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population.0.0002714422015FCRL31157699488CT
rs4149577229942007132TNFRSF1Aumls:C0027873BeFreeLogistic analyses revealed that one SNP in CD6 (rs12288280, P = 0.04) and three SNPs in TNFRSF1A (rs767455, rs4149577 and rs1800693, P = 0.01-0.03) were associated with NMO.0.0005428842012TNFRSF1A126338356GA
rs752868426402798115352FCRL3umls:C0027873BeFreeThe Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population.0.0002714422015FCRL31157701026AG
rs767455229942007132TNFRSF1Aumls:C0027873BeFreeLogistic analyses revealed that one SNP in CD6 (rs12288280, P = 0.04) and three SNPs in TNFRSF1A (rs767455, rs4149577 and rs1800693, P = 0.01-0.03) were associated with NMO.0.0005428842012TNFRSF1A126341779TC
rs94563526402798115352FCRL3umls:C0027873BeFreeThe Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population.0.0002714422015FCRL31157700500CA,G
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:18)
CHR POS SNPID REF ALT ORI_SNPID PMID P_VALUE P_VALUE_TEXT OR/BETA CI95_TEXT GWAS_INITIAL_SAMPLE_SIZE SUB_POPULATION SUPER_POPULATION GWAS_TRAIT HPO_ID HPO_TERM DO_ID DO_TERM MESH_ID MESH_TERM EFO_ID EFO_TERM DOLITE_TERM RISK_ALLELE PUBLICATION_TYPE AA GENE_SYMBOL TYPE REFGENE
138465315rs4634868GArs4634868198501254.70E-05Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tTFHL3
197949431rs4451581ACrs4451581198501252.10E-05Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tCDPYD
1211072392rs1501562CTrs1501562198501251.60E-05Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tCKCNH1
2106366232rs997522GArs997522198501254.10E-05Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tGNCK2
636165213rs4713936CTrs4713936198501251.50E-05Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tCBRPF3
6137470756rs10484798TCrs10484798198501258.00E-06Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tTIL22RA2
7146750254rs6980283GTrs6980283198501251.20E-05Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tGCNTNAP2
826717123rs563097AGrs563097198501253.30E-05Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tTADRA1A
859410439rs1457043CTrs1457043198501251.50E-05Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tACYP7A1
859412924rs3808607GTrs3808607198501251.00E-04Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tGCYP7A1
101674132rs1909440GArs1909440198501251.10E-05Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tGADARB2
101684797rs4880897GTrs4880897198501251.20E-05Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tGADARB2
101705247rs1909428AGrs1909428198501257.40E-06Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tAADARB2
1352570728rs732071GArs732071198501253.00E-05Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tTATP7B
1352593765rs7320831CTrs7320831198501254.20E-05Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tTALG11
1352601053rs9526823TCrs9526823198501253.70E-05Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tCUTP14C
13113074228rs1887649GTrs1887649198501254.30E-05Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tCSPACA7
1860027241rs1805034CTrs1805034198501253.60E-05Neuromyelitis opticaNANA53 Korean cases; 240 Korean controlsKorean(293)ALL(293)ASN(293)ALL(293)Inflammatory demyelinating diseaseHPOID:0002143Abnormality of the spinal cordDOID:8869neuromyelitis opticaNANANANACentral nervous system diseaseNAResearch Support, Non-U.S. Gov'tTTNFRSF11A
Mapped by lexical matching(Total Items:2)
HP ID HP Name MP ID MP Name Annotation
HP:0002017Nausea and vomitingMP:0010426abnormal heart and great artery attachmentany anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta
HP:0000572Visual lossMP:0011352proximal convoluted tubule brush border lossattenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes
Mapped by homologous gene(Total Items:13)
HP ID HP Name MP ID MP Name Annotation
HP:0000836HyperthyroidismMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0100561Spinal cord lesionMP:0013175bifurcated tailthe appearance of an abnormal division in the flexible elongated appendage located at the caudal end of the torso in many species
HP:0100543Cognitive impairmentMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000739AnxietyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000572Visual lossMP:0020194abnormal glycosphingolipid levelany anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body
HP:0002516Increased intracranial pressureMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0001250SeizuresMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002153HyperkalemiaMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0003474Sensory impairmentMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0003113HypochloremiaMP:0011563increased urine prostaglandin levela greater amount of any prostaglandin in the urine compared to the normal state
HP:0002017Nausea and vomitingMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0002273TetraparesisMP:0014074increased brain glycogen levelgreater than the normal concentration of a readily converted carbohydrate reserve in brain
HP:0002459DysautonomiaMP:0020187altered susceptibility to prion infectionaltered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is
Disease ID 178
Disease neuromyelitis optica
Case(Waiting for update.)