eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| locked in syndrome | ||||
| Disease ID | 1959 |
|---|---|
| Disease | locked in syndrome |
| Definition | Locked-in syndrome (LIS) is a condition in which a patient is aware but cannot move or communicate verbally due to complete paralysis of nearly all voluntary muscles in the body except for the eyes Total locked-in syndrome is a version of locked-in syndrome wherein the eyes are paralyzed as well Fred Plum and Jerome Posner coined the term for this disorder in Locked-in syndrome is also known as cerebromedullospinal disconnection, de-efferented state, pseudocoma, and ventral pontine syndrome. - NORD Reference: NORD |
| Synonym | cerebromedullospinal disconnection de-efferented state lock in syndrome locked in syndrome (disorder) locked syndrome locked-in state locked-in syndrome locked-in syndromes locking syndrome pseudocoma syndrome, locked-in syndromes, locked-in |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0023944 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0011570 | depression | 1 C0009946 | conversion disorder | 1 C0034372 | quadriplegia | 1 C0018378 | guillain-barre syndrome | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:6) |
| Locus | (Waiting for update.) |
| Disease ID | 1959 |
|---|---|
| Disease | locked in syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0000716 | Depression | 1 HP:0002273 | Tetraparesis | 1 HP:0000505 | Poor vision | 1 HP:0002445 | Paralysis of all four limbs | 1 HP:0001336 | Myoclonic jerks | 1 HP:0012399 | Bedsore | 1 HP:0010543 | Opsoclonus | 1 HP:0002615 | Low blood pressure | 1 |
| Disease ID | 1959 |
|---|---|
| Disease | locked in syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (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 | 1959 |
|---|---|
| Disease | locked in syndrome |
| Case | (Waiting for update.) |