eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| anodontia | ||||
| Disease ID | 739 |
|---|---|
| Disease | anodontia |
| Definition | Congenital absence of the teeth; it may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), and both the deciduous and the permanent dentition, or only teeth of the permanent dentition. (Dorland, 27th ed) |
| Synonym | agomphiasis agomphosis anodontia (disorder) anodontia [disease/finding] anodontia nos anodontia nos (finding) anodontia vera anodontia, nos anodontism anodontism, nos complete absence of teeth complete agenesis of all teeth complete anodontia complete congenital absence of teeth complete congenital absence of teeth (disorder) complete developmental absence of teeth congenital absence of teeth congenital absence of teeth, nos congenital complete absence of teeth congenital edentia congenital edentia, nos dental agenesis developmental absence of tooth developmental absence of tooth (disorder) failure of development of all teeth total anodontia total anodontia of permanent and deciduous teeth |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0399352 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0013575 | ectodermal dysplasia | 6 C0162359 | hypohidrotic ectodermal dysplasia | 3 C0024214 | lymphangiectasia | 1 C0031099 | periodontitis | 1 C0162809 | kallmann syndrome | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:15) 249 | ALPL | 2.372 | DISEASES 265 | AMELX | 2.504 | DISEASES 6387 | CXCL12 | 1.108 | DISEASES 1896 | EDA | 3.755 | DISEASES 128178 | EDARADD | 4.543 | DISEASES 10117 | ENAM | 2.914 | DISEASES 132884 | EVC2 | 2.897 | DISEASES 2260 | FGFR1 | 1.465 | DISEASES 8517 | IKBKG | 2.996 | DISEASES 9622 | KLK4 | 1.322 | DISEASES 64386 | MMP25 | 3.307 | DISEASES 4487 | MSX1 | 4.794 | DISEASES 5083 | PAX9 | 5.03 | DISEASES 83695 | RHNO1 | 1.774 | DISEASES 113452 | TMEM54 | 2.904 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 739 |
|---|---|
| Disease | anodontia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:1) HP:0000674 | Anodontia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0000968 | Ectodermal dysplasia | 6 HP:0007529 | Hidrotic ectodermal dysplasia | 5 HP:0007607 | Hypohidrotic ectodermal dysplasia | 3 HP:0007476 | Anhidrotic ectodermal dysplasia | 2 HP:0000689 | Misalignment of upper and lower dental arches | 1 HP:0000699 | Diastasis of the teeth | 1 HP:0000704 | Pyorrhea | 1 |
| Disease ID | 739 |
|---|---|
| Disease | anodontia |
| 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 |
| rs121909635 | 16606836 | 2260 | FGFR1 | umls:C0399352 | BeFree | Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty. | 0.000271442 | 2006 | FGFR1 | 8 | 38426158 | C | T |
| rs121909636 | 16606836 | 2260 | FGFR1 | umls:C0399352 | BeFree | Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty. | 0.000271442 | 2006 | FGFR1 | 8 | 38414569 | G | A |
| rs267606805 | 16606836 | 2260 | FGFR1 | umls:C0399352 | BeFree | Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty. | 0.000271442 | 2006 | FGFR1 | 8 | 38414173 | G | T |
| rs267606806 | 16606836 | 2260 | FGFR1 | umls:C0399352 | BeFree | Heterozygous FGFR1 mutations were found in three of seven unrelated nIHH probands with normal MRI of the olfactory system: (i) G237S in an nIHH female and a KS brother; (ii) (P722H and N724K) in an nIHH male missing two teeth and his mother with isolated hyposmia; and (iii) Q680X in a nIHH male with cleft lip/palate and missing teeth, his brother with nIHH, and his father with delayed puberty. | 0.000271442 | 2006 | FGFR1 | 8 | 38414166 | G | C,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) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000674 | Anodontia | MP:0014175 | abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l |
| Disease ID | 739 |
|---|---|
| Disease | anodontia |
| Case | (Waiting for update.) |