eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| bifid nose | ||||
| Disease ID | 1689 |
|---|---|
| Disease | bifid nose |
| Definition | Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. [pmid:19152422] |
| Synonym | bifid nasal bridge cleft nose cleft nose (disorder) congenital cleft nose congenital cleft nose (disorder) median fissure of nose nose, median cleft of |
| Orphanet | |
| OMIM | |
| UMLS | C0221363 |
| SNOMED-CT | |
| 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 | (Waiting for update.) |
| Disease ID | 1689 |
|---|---|
| Disease | bifid nose |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1689 |
|---|---|
| Disease | bifid nose |
| 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0011803 | Bifid nose | MP:0012251 | abnormal diaphragm development | malformation or incomplete differentiation of the thin musculomembranous barrier separating the abdominal and thoracic cavities and functioning in respiration |
| Disease ID | 1689 |
|---|---|
| Disease | bifid nose |
| Case | (Waiting for update.) |