eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| blepharospasm | ||||
| Disease ID | 706 |
|---|---|
| Disease | blepharospasm |
| Definition | Excessive winking; tonic or clonic spasm of the orbicularis oculi muscle. |
| Synonym | blepharospasm (disorder) blepharospasm (spasm of eyelid) blepharospasm [disease/finding] blepharospasms eyelid spasm eyelid spasms eyelid twitch eyelid twitching eyelids twitching involuntary closure of eyelid spasm eyelid spasm of eyelids spontaneous closure of eyelid twitch eyelid twitching eyelid |
| DOID | |
| ICD10 | |
| UMLS | C0005747 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0013421 | dystonia | 5 C0003635 | apraxia | 4 C0949445 | cervical dystonia | 1 C0005745 | ptosis | 1 C0743332 | focal dystonia | 1 C0376175 | bell's palsy | 1 C0026896 | myasthenia gravis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:34) 64115 | C10orf54 | 1.198 | DISEASES 23705 | CADM1 | 1.556 | DISEASES 820 | CAMP | 6.073 | DISEASES 23066 | CAND2 | 1.694 | DISEASES 29965 | CDIP1 | 2.458 | DISEASES 199699 | DAND5 | 1.328 | DISEASES 83658 | DYNLRB1 | 1.853 | DISEASES 2296 | FOXC1 | 2.017 | DISEASES 2643 | GCH1 | 3.332 | DISEASES 2774 | GNAL | 3.5 | DISEASES 51155 | HN1 | 1.041 | DISEASES 3339 | HSPG2 | 3.936 | DISEASES 3360 | HTR4 | 1.018 | DISEASES 102723508 | KANTR | 7.439 | DISEASES 3996 | LLGL1 | 1.405 | DISEASES 22921 | MSRB2 | 2.476 | DISEASES 100463285 | MTRNR2L4 | 2.006 | DISEASES 8736 | MYOM1 | 2.812 | DISEASES 26151 | NAT9 | 1.102 | DISEASES 4729 | NDUFV2 | 2.182 | DISEASES 4958 | OMD | 4.058 | DISEASES 10846 | PDE10A | 1.442 | DISEASES 5293 | PIK3CD | 1.882 | DISEASES 51109 | RDH11 | 1.278 | DISEASES 114836 | SLAMF6 | 1.921 | DISEASES 10864 | SLC22A7 | 1.913 | DISEASES 6651 | SON | 2.36 | DISEASES 7114 | TMSB4X | 1.23 | DISEASES 1861 | TOR1A | 3.625 | DISEASES 9760 | TOX | 1.178 | DISEASES 90121 | TSR2 | 3.12 | DISEASES 9278 | ZBTB22 | 1.318 | DISEASES 53349 | ZFYVE1 | 2.414 | DISEASES 7694 | ZNF135 | 1.831 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 706 |
|---|---|
| Disease | blepharospasm |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0001332 | Dystonia | 6 HP:0002186 | Apraxia | 4 HP:0012531 | Pain | 1 HP:0100309 | Subdural hemorrhage | 1 HP:0000613 | Extreme light sensitivity | 1 HP:0000508 | Drooping upper eyelid | 1 HP:0012048 | Oromandibular dystonia | 1 HP:0012804 | Corneal ulceration | 1 HP:0010628 | Facial palsy, unilateral or bilateral | 1 HP:0003473 | Fatigable weakness | 1 HP:0004373 | Focal dystonia | 1 HP:0002172 | Postural instability | 1 HP:0000473 | Spasmodic torticollis | 1 HP:0002888 | Ependymoma | 1 |
| Disease ID | 706 |
|---|---|
| Disease | blepharospasm |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:12) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
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 | 706 |
|---|---|
| Disease | blepharospasm |
| Case | (Waiting for update.) |