eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| radioulnar synostosis | ||||
| Disease ID | 1712 |
|---|---|
| Disease | radioulnar synostosis |
| Definition | An abnormal osseous union (fusion) between the radius and the ulna. [HPO:probinson] |
| Synonym | fused forearm bones radioulnar synostosis (disorder) synostosis radioulnar |
| OMIM | |
| DOID | |
| UMLS | C0158761 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:21) 26033 | ATRNL1 | 4.777 | DISEASES 126792 | B3GALT6 | 4.099 | DISEASES 54880 | BCOR | 2.508 | DISEASES 650 | BMP2 | 1.448 | DISEASES 1586 | CYP17A1 | 1.56 | DISEASES 9343 | EFTUD2 | 4.939 | DISEASES 2260 | FGFR1 | 2.483 | DISEASES 2263 | FGFR2 | 2.932 | DISEASES 2261 | FGFR3 | 1.349 | DISEASES 342184 | FMN1 | 2.764 | DISEASES 10660 | LBX1 | 2.465 | DISEASES 3949 | LDLR | 1.369 | DISEASES 4010 | LMX1B | 2.552 | DISEASES 4038 | LRP4 | 4.861 | DISEASES 4352 | MPL | 2.81 | DISEASES 9241 | NOG | 1.981 | DISEASES 5744 | PTHLH | 1.161 | DISEASES 9939 | RBM8A | 2.107 | DISEASES 860 | RUNX2 | 1.294 | DISEASES 6736 | SRY | 1.338 | DISEASES 157680 | VPS13B | 2.597 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1712 |
|---|---|
| Disease | radioulnar synostosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) HP:0003083 | Dislocated radius HP:0001377 | Restricted elbow extension HP:0002974 | Fused forearm bones |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0003083 | Dislocated radius | 2 HP:0001371 | Flexion contractures of joints | 2 HP:0005798 | Posterior radial head dislocation | 1 HP:0004859 | Amegakaryocytic thrombocytopenia | 1 HP:0001873 | Low platelet count | 1 HP:0002987 | Elbow contracture | 1 HP:0009778 | Small thumbs | 1 HP:0002937 | Hemivertebra | 1 |
| Disease ID | 1712 |
|---|---|
| Disease | radioulnar synostosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C1863881 | tsukahara syndrome |
| 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002974 | Radioulnar synostosis | MP:0000566 | synostosis | osseous union of two bones that are not normally connected |
| HP:0003083 | Dislocated radial head | MP:0011496 | abnormal head size | anomaly in the average size of the portion of the body containing the brain and organs of sight, hearing, taste, and smell |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003083 | Dislocated radial head | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0001377 | Limited elbow extension | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002974 | Radioulnar synostosis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| Disease ID | 1712 |
|---|---|
| Disease | radioulnar synostosis |
| Case | (Waiting for update.) |