eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| lateral meningocele syndrome | ||||
| Disease ID | 1810 |
|---|---|
| Disease | lateral meningocele syndrome |
| Definition | The lateral meningocele syndrome is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele-related neurologic dysfunction. - Wikipedia Reference: https://en.wikipedia.org/wiki/lateral meningocele syndrome |
| Synonym | lehman syndrome lmns |
| Orphanet | |
| OMIM | |
| UMLS | C1851710 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) NOTCH3 | 19p13.12 |
| Disease ID | 1810 |
|---|---|
| Disease | lateral meningocele syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 1810 |
|---|---|
| Disease | lateral meningocele 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908836 | 17431922 | 8626 | TP63 | umls:C1851710 | BeFree | We report on two unrelated families with EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip/palate), each with an Arg227Gln TP63 gene mutation, where the phenotype overlapped extensively with the allelic disorder, limb-mammary syndrome (LMS). | 0.000814326 | 2007 | TP63 | 3 | 189864380 | G | A |
| rs796065045 | NA | 4854 | NOTCH3 | umls:C1851710 | CLINVAR | NA | 0.240271442 | NA | NOTCH3 | 19 | 15161381 | T | A |
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 | 1810 |
|---|---|
| Disease | lateral meningocele syndrome |
| Case | (Waiting for update.) |