eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| warsaw breakage syndrome | ||||
| Disease ID | 1389 |
|---|---|
| Disease | warsaw breakage syndrome |
| Definition | A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations |
| Synonym | warsaw breakage syndrome (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C3150658 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:8) |
| Locus | Symbol | Locus(Total Locus:1) DDX11 | 12p11.21 |
| Disease ID | 1389 |
|---|---|
| Disease | warsaw breakage syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1389 |
|---|---|
| Disease | warsaw breakage 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:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs201968272 | NA | 1663 | DDX11 | umls:C3150658 | CLINVAR | NA | 0.481357209 | NA | DDX11 | 12 | 31089147 | G | A |
| rs730880279 | NA | 1663 | DDX11 | umls:C3150658 | CLINVAR | NA | 0.481357209 | NA | DDX11 | 12 | 31102313 | T | C |
| rs730880280 | NA | 1663 | DDX11 | umls:C3150658 | CLINVAR | NA | 0.481357209 | NA | DDX11 | 12 | 31103729 | AAG | - |
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 | 1389 |
|---|---|
| Disease | warsaw breakage syndrome |
| Case | (Waiting for update.) |