eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hypodontia | ||||
| Disease ID | 983 |
|---|---|
| Disease | hypodontia |
| Definition | A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing. [HPO:ibailleulforestier] |
| Synonym | congenital partial absence of teeth failure of development of between one and six teeth hypodontia (disorder) missing between one and six teeth oligodontia partial absence of teeth partial anodontia partial congenital absence of teeth partial congenital absence of teeth (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C0020608 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0013575 | ectodermal dysplasia | 2 C0023520 | leukodystrophy | 2 C0008924 | cleft lip | 1 C0032339 | rothmund-thomson syndrome | 1 C0677886 | epithelial ovarian cancer | 1 C1140680 | ovarian ca | 1 C0001080 | achondroplasia | 1 C1335177 | ovarian serous carcinoma | 1 C0010278 | craniosynostosis | 1 C0038015 | spondyloepiphyseal dysplasia | 1 C1140680 | ovarian cancer | 1 C0041341 | phacomatosis | 1 C0029454 | osteopetrosis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 983 |
|---|---|
| Disease | hypodontia |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:21) HP:0000679 | Taurodont | 4 HP:0000698 | Peg tooth | 3 HP:0002415 | Degeneration of white matter of brain | 2 HP:0000164 | Abnormality of the teeth | 2 HP:0000968 | Ectodermal dysplasia | 2 HP:0001363 | Early fusion of cranial sutures | 1 HP:0011069 | Extra teeth | 1 HP:0011088 | Dens invaginatus | 1 HP:0002655 | Spondyloepiphyseal dysplasia | 1 HP:0002212 | Curly hair | 1 HP:0011065 | Peg-shaped incisors | 1 HP:0011087 | Dens evaginatus | 1 HP:0006482 | Dental malformations | 1 HP:0006349 | Agenesis of permanent dentition | 1 HP:0011002 | Osteopetrosis | 1 HP:0002006 | Tessier facial cleft | 1 HP:0006311 | Decreased width of all teeth | 1 HP:0000674 | Anodontia | 1 HP:0000201 | Pierre-robin deformity | 1 HP:0002656 | Epiphyseal dysplasia | 1 HP:0000691 | Decreased width of tooth | 1 |
| Disease ID | 983 |
|---|---|
| Disease | hypodontia |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs4904210 | 21530942 | 5083 | PAX9 | umls:C0020608 | BeFree | Our findings may imply that the PAX9 A240P mutation is a risk factor for oligodontia in the Chinese population. | 0.015863181 | 2011 | PAX9 | 14 | 36666548 | G | C |
| rs67707918 | 23227268 | 5083 | PAX9 | umls:C0020608 | BeFree | A spontaneous novel mutation in COL1A2 (c.1171G>A; p.Gly391Ser) causing only dentin defects and a novel mutation in PAX9 (c.43T>A; p.Phe15Ile) causing hypodontia were identified and correlated with the phenotypic presentations in the family. | 0.015863181 | 2012 | COL1A2 | 7 | 94410501 | G | A,T |
| rs67707918 | 23227268 | 1278 | COL1A2 | umls:C0020608 | BeFree | A spontaneous novel mutation in COL1A2 (c.1171G>A; p.Gly391Ser) causing only dentin defects and a novel mutation in PAX9 (c.43T>A; p.Phe15Ile) causing hypodontia were identified and correlated with the phenotypic presentations in the family. | 0.000542884 | 2012 | COL1A2 | 7 | 94410501 | G | A,T |
| rs929387 | 24278334 | 2737 | GLI3 | umls:C0020608 | BeFree | To further confirm this observation, in this study, we employed 89 individuals diagnosed with sporadic non-syndromic oligodontia (40 males and 49 females) to investigate the relationship between polymorphism in rs929387 of GLI3 and tooth agenesis. | 0.000271442 | 2013 | GLI3 | 7 | 41966080 | G | 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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 983 |
|---|---|
| Disease | hypodontia |
| Case | (Waiting for update.) |