eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| taurodontism | ||||
| Disease ID | 674 |
|---|---|
| Disease | taurodontism |
| Definition | Increased volume of dental pulp of permanent molar. [HPO:ibailleulforestier] |
| Synonym | bull teeth large pulp chambers, in the molars taurodont taurodontia taurodontism (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C0266039 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 674 |
|---|---|
| Disease | taurodontism |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) |
| Disease ID | 674 |
|---|---|
| Disease | taurodontism |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0002452 | amelogenesis imperfecta |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
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 |
| rs387906406 | 18362318 | 1747 | DLX3 | umls:C0266039 | BeFree | Recently, another DLX3 gene mutation (c.561_562delCT) was reported to cause amelogenesis imperfecta with taurodontism (AIHHT). | 0.001085767 | 2008 | DLX3 | 17 | 49991819 | AG | - |
| rs387906406 | 18203197 | 1747 | DLX3 | umls:C0266039 | BeFree | Previously, the DLX3 c.561_562delCT mutation was associated with autosomal dominant amelogenesis imperfecta with taurodontism. | 0.001085767 | 2008 | DLX3 | 17 | 49991819 | AG | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000682 | Abnormality of dental enamel | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000679 | Taurodontia | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0000682 | Abnormality of dental enamel | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 674 |
|---|---|
| Disease | taurodontism |
| Case | (Waiting for update.) |