eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dentin dysplasia | ||||
| Disease ID | 1206 |
|---|---|
| Disease | dentin dysplasia |
| Definition | An apparently hereditary disorder of dentin formation, marked by a normal appearance of coronal dentin associated with pulpal obliteration, faulty root formation, and a tendency for peripheral lesions without obvious cause. (From Dorland, 27th ed) |
| Synonym | dentin dysplasia (disorder) dentin dysplasia [disease/finding] dentin dysplasias dentinal dysplasia dentine dysplasia dysplasia, dentin dysplasias, dentin |
| Orphanet | |
| DOID | |
| UMLS | C0011430 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:28) 1645 | AKR1C1 | 1.709 | DISEASES 1646 | AKR1C2 | 1.985 | DISEASES 249 | ALPL | 2.809 | DISEASES 265 | AMELX | 2.027 | DISEASES 633 | BGN | 2.621 | DISEASES 650 | BMP2 | 1.035 | DISEASES 1184 | CLCN5 | 1.962 | DISEASES 1186 | CLCN7 | 2.383 | DISEASES 1308 | COL17A1 | 1.398 | DISEASES 1747 | DLX3 | 3.763 | DISEASES 10117 | ENAM | 4.285 | DISEASES 2591 | GALNT3 | 3.253 | DISEASES 26301 | GBGT1 | 1.374 | DISEASES 3109 | HLA-DMB | 2.223 | DISEASES 3664 | IRF6 | 1.407 | DISEASES 3758 | KCNJ1 | 2.083 | DISEASES 9622 | KLK4 | 1.759 | DISEASES 56955 | MEPE | 4.207 | DISEASES 64386 | MMP25 | 3.744 | DISEASES 4487 | MSX1 | 3.487 | DISEASES 4782 | NFIC | 2.173 | DISEASES 147111 | NOTUM | 3.726 | DISEASES 5083 | PAX9 | 4.419 | DISEASES 64094 | SMOC2 | 4.311 | DISEASES 6696 | SPP1 | 2.731 | DISEASES 51066 | SSUH2 | 4.509 | DISEASES 7048 | TGFBR2 | 1.23 | DISEASES 162514 | TRPV3 | 2.805 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1206 |
|---|---|
| Disease | dentin dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0000682 | Abnormality of dental enamel HP:0100777 | Exostoses HP:0006482 | Abnormality of dental morphology HP:0011001 | Increased bone mineral density |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 1206 |
|---|---|
| Disease | dentin dysplasia |
| 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:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0011001 | Increased bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0006482 | Abnormality of dental morphology | 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 |
| 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:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000682 | Abnormality of dental enamel | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006482 | Abnormality of dental morphology | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| HP:0100777 | Exostoses | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0011001 | Increased bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1206 |
|---|---|
| Disease | dentin dysplasia |
| Case | (Waiting for update.) |