eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| lethal multiple pterygium syndrome | ||||
| Disease ID | 1703 |
|---|---|
| Disease | lethal multiple pterygium syndrome |
| Definition | A rare variant of multiple pterygium syndrome, characterized by severe athrogryposis, pterygium, akinesia and often hydrops fetalis and cystic hygroma. This variant is fatal, usually during the second or third trimester of pregnancy. |
| Synonym | lethal multiple pterygium syndrome (disorder) lmps multiple pterygium syndrome lethal type multiple pterygium syndrome, lethal type pterygium multiple syndrome, lethal type pterygium syndrome, multiple, lethal type |
| Orphanet | |
| OMIM | |
| UMLS | C1854678 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:5) |
| Disease ID | 1703 |
|---|---|
| Disease | lethal multiple pterygium syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1703 |
|---|---|
| Disease | lethal multiple pterygium syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909505 | NA | 1144 | CHRND | umls:C1854678 | CLINVAR | NA | 0.48 | NA | CHRND | 2 | 232527436 | G | A |
| rs121909506 | NA | 1144 | CHRND | umls:C1854678 | CLINVAR | NA | 0.48 | NA | CHRND | 2 | 232528301 | T | C |
| rs121909507 | NA | 1144 | CHRND | umls:C1854678 | CLINVAR | NA | 0.48 | NA | CHRND | 2 | 232535148 | C | T |
| rs121912670 | NA | 1146 | CHRNG | umls:C1854678 | CLINVAR | NA | 0.48 | NA | CHRNG | 2 | 232542992 | C | T |
| rs137852809 | NA | 1134 | CHRNA1 | umls:C1854678 | CLINVAR | NA | 0.48 | NA | CHRNA1 | 2 | 174753595 | C | T,A |
| rs267606726 | NA | 1146 | CHRNG | umls:C1854678 | CLINVAR | NA | 0.48 | NA | CHRNG | 2 | 232540681 | T | G |
| rs767503038 | NA | 1146 | CHRNG | umls:C1854678 | CLINVAR | NA | 0.48 | NA | CHRNG | 2 | 232543030 | CT | - |
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 | 1703 |
|---|---|
| Disease | lethal multiple pterygium syndrome |
| Case | (Waiting for update.) |