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encyclopedia of Rare Disease Annotation for Precision Medicine

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	cauda equina syndrome

Disease ID	1481
Disease	cauda equina syndrome
Definition	A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The clinical course rapidly deteriorates and necessitates emergent surgical decompression to minimize risk of incontinence, sexual dysfunction and permanent paralysis.
Synonym	cauda equina syndrome (disorder) cauda equina syndrome (disorder) [ambiguous] cauda equina syndrome nos cauda equina syndrome nos (disorder) cauda equina syndrome, nos cauda equina syndromes lumbosacral syndrome syndrome cauda equina syndrome, cauda equina syndromes, cauda equina
DOID	DOID:11577
ICD10	ICD10CM:G83.4
UMLS	C0392548
SNOMED-CT	SNOMEDCT_US_2016_09_01:192970008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:22) C0392548 \| cauda equina syndrome \| 21 C0038013 \| ankylosing spondylitis \| 2 C0005697 \| neurogenic bladder \| 2 C0003708 \| arachnoiditis \| 2 C0038012 \| spondylitis \| 2 C0024299 \| lymphoma \| 2 C0334634 \| mantle cell lymphoma \| 1 C0078981 \| arachnoid cysts \| 1 C0270629 \| epidural abscess \| 1 C0041296 \| tuberculosis \| 1 C0078981 \| arachnoid cyst \| 1 C0037753 \| sparganosis \| 1 C0039730 \| thalassemia \| 1 C0003864 \| arthritis \| 1 C0079731 \| b-cell lymphoma \| 1 C0037944 \| spinal stenosis \| 1 C0038016 \| spondylolisthesis \| 1 C0029423 \| osteochondroma \| 1 C0025149 \| medulloblastoma \| 1 C0206093 \| primitive neuroectodermal tumor \| 1 C0018916 \| hemangioma \| 1 C0751690 \| malignant peripheral nerve sheath tumor \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:17) 1646 \| AKR1C2 \| 2.209 \| DISEASES 467 \| ATF3 \| 1.81 \| DISEASES 567 \| B2M \| 1.365 \| DISEASES 627 \| BDNF \| 1.496 \| DISEASES 650 \| BMP2 \| 2.806 \| DISEASES 672 \| BRCA1 \| 1.163 \| DISEASES 875 \| CBS \| 1.293 \| DISEASES 1103 \| CHAT \| 1.436 \| DISEASES 2130 \| EWSR1 \| 1.208 \| DISEASES 2879 \| GPX4 \| 1.882 \| DISEASES 3303 \| HSPA1A \| 1.607 \| DISEASES 3713 \| IVL \| 3.502 \| DISEASES 4359 \| MPZ \| 2.043 \| DISEASES 4514 \| MT-CO3 \| 2.113 \| DISEASES 146713 \| RBFOX3 \| 1.359 \| DISEASES 6164 \| RPL34 \| 4.796 \| DISEASES 6559 \| SLC12A3 \| 1.764 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1481
Disease	cauda equina syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:28) HP:0012531 \| Pain \| 4 HP:0002665 \| Lymphoma \| 2 HP:0003418 \| Back pain \| 2 HP:0000011 \| Neurogenic bladder \| 2 HP:0002664 \| Neoplasia \| 2 HP:0040078 \| Axonal degeneration \| 1 HP:0100702 \| Arachnoid cyst \| 1 HP:0002953 \| Vertebral compression fractures \| 1 HP:0003416 \| Spinal canal stenosis \| 1 HP:0007340 \| Lower limb weakness \| 1 HP:0100697 \| Neurofibrosarcoma \| 1 HP:0009027 \| Foot drop \| 1 HP:0001028 \| Strawberry mark \| 1 HP:0003302 \| Spondylolithesis \| 1 HP:0003690 \| Limb weakness \| 1 HP:0010550 \| Paraplegia \| 1 HP:0001369 \| Arthritis \| 1 HP:0000020 \| Bladder incontinence \| 1 HP:0100775 \| Dural ectasia \| 1 HP:0002366 \| Lower motor neuron disease \| 1 HP:0002445 \| Paralysis of all four limbs \| 1 HP:0000016 \| Urinary retention \| 1 HP:0012191 \| B-cell lymphoma \| 1 HP:0030431 \| Osteochondromas \| 1 HP:0030065 \| Primitive neuroectodermal tumor \| 1 HP:0002885 \| Medulloblastoma \| 1 HP:0002948 \| Fusion of vertebral bodies \| 1 HP:0001288 \| Gait disturbance \| 1

Disease ID	1481
Disease	cauda equina syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:5) C0078981 \| arachnoid diverticula C0030200 \| intractable pain C0024031 \| lumbar pain C0015732 \| fecal incontinence C0003708 \| arachnoiditis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0003708 \| arachnoiditis \| 2 C0030200 \| intractable pain \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1481
Disease	cauda equina syndrome
Case	(Waiting for update.)

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