eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| tarsal-carpal coalition syndrome | ||||
| Disease ID | 512 |
|---|---|
| Disease | tarsal-carpal coalition syndrome |
| Definition | An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. [url:http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome, url:http://omim.org/entry/186570?search=186570&highlight=186570, url:http://rarediseases.info.nih.gov/gard/9225/tarsal-carpal-coalition-syndrome/resources/1, url:http://www.ncbi.nlm.nih.gov/pubmed/22326510, url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412] - NORD Reference: NORD |
| Synonym | nog gene-related symphalangism spectrum disorder nog-related-symphalangism spectrum disorder tarsal carpal coalition syndrome tarsal-carpal coalition syndrome (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1861305 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:3) |
| Locus | Symbol | Locus(Total Locus:1) NOG | 17q22 |
| Disease ID | 512 |
|---|---|
| Disease | tarsal-carpal coalition syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 512 |
|---|---|
| Disease | tarsal-carpal coalition syndrome |
| 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:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894602 | NA | 9241 | NOG | umls:C1861305 | CLINVAR | NA | 0.481085767 | NA | NOG | 17 | 56594888 | A | G |
| rs104894610 | NA | 9241 | NOG | umls:C1861305 | CLINVAR | NA | 0.481085767 | NA | NOG | 17 | 56594834 | G | T |
| rs104894611 | NA | 9241 | NOG | umls:C1861305 | CLINVAR | NA | 0.481085767 | NA | NOG | 17 | 56594327 | C | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003028 | Abnormality of the ankles | 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:0008368 | Tarsal synostosis | MP:0000566 | synostosis | osseous union of two bones that are not normally connected |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0003028 | Abnormality of the ankles | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008368 | Tarsal synostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 512 |
|---|---|
| Disease | tarsal-carpal coalition syndrome |
| Case | (Waiting for update.) |