eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital vertical talus | ||||
| Disease ID | 1743 |
|---|---|
| Disease | congenital vertical talus |
| Definition | The presence of both a prominent heel and a convex contour of the sole. [HPO:probinson, pmid:19125433] |
| Synonym | 'rocker bottom' feet 'rocker-bottom' feet ccpv - congenital convex pes valgus congenital convex pes valgus congenital convex pes valgus (disorder) congenital vertical talus (disorder) convex foot convex pes valgus cvt cvt - congenital vertical talus flatfoot, rigid foot, convex pes valgus, congenital convex pes valgus, convex rigid flatfoot rocker bottom feet rocker bottom foot rocker-bottom feet rocker-bottom foot rockerbottom feet talus, vertical vertical tali vertical talus vertical talus, congenital |
| Orphanet | |
| OMIM | |
| UMLS | C0240912 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1743 |
|---|---|
| Disease | congenital vertical talus |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0001369 | Arthritis HP:0008138 | Hindfoot equinus HP:0001838 | Rocker bottom foot HP:0001848 | Calcaneovalgus Foot |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0001760 | Foot deformities | 2 HP:0002821 | Charcot arthropathy | 1 HP:0012428 | Prominent heel bone | 1 HP:0003040 | Arthropathy | 1 |
| Disease ID | 1743 |
|---|---|
| Disease | congenital vertical talus |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893634 | 16450407 | 3236 | HOXD10 | umls:C0240912 | BeFree | HOXD10 M319K mutation in a family with isolated congenital vertical talus. | 0.360814326 | 2006 | HOXD10 | 2 | 176119164 | T | A |
| rs104893634 | NA | 3236 | HOXD10 | umls:C0240912 | CLINVAR | NA | 0.360814326 | NA | HOXD10 | 2 | 176119164 | T | A |
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:0001838 | Rocker bottom foot | MP:0008059 | abnormal podocyte foot process morphology | any structural anomaly of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries |
Mapped by homologous gene(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001848 | Calcaneovalgus deformity | MP:0013615 | increased volumetric bone mineral density | increase in the mineral mass per unit volume of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; this is expressed as the amount of mineral per cubic cm of bone (usuall |
| HP:0001838 | Rocker bottom foot | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008138 | Equinus calcaneus | MP:0005353 | abnormal patella morphology | any structural anomaly of the large sesamoid bone that covers the anterior surface of the knee |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| Disease ID | 1743 |
|---|---|
| Disease | congenital vertical talus |
| Case | (Waiting for update.) |