eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hennekam syndrome | ||||
| Disease ID | 1804 |
|---|---|
| Disease | hennekam syndrome |
| Definition | Hennekam syndrome also known as Hennekam lymphangiectasia–lymphedema syndrome and intestinal lymphagiectasia–lymphedema–mental retardation syndrome[1] is an autosomal recessive disorder consisting of intestinal lymphangiectasia, facial anomalies, peripheral lymphedema, and mild to moderate levels of growth and intellectual disability.[1][2] - Wikipedia Reference: https://en.wikipedia.org/wiki/hennekam syndrome |
| Orphanet | |
| DOID | |
| UMLS | C0795972 |
| 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 | Entrez_id | Symbol | Score | Resource(Total Genes:3) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1804 |
|---|---|
| Disease | hennekam syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1804 |
|---|---|
| Disease | hennekam 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: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 | 1804 |
|---|---|
| Disease | hennekam syndrome |
| Case | (Waiting for update.) |