eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| scheuermann disease | ||||
| Disease ID | 601 |
|---|---|
| Disease | scheuermann disease |
| Definition | A type of juvenile osteochondrosis affecting the fibrocartilaginous disc (INTERVERTEBRAL DISC) in the thoracic or thoracolumbar region of the SPINE. It is characterized by a forward concave SPINAL CURVATURE or KYPHOSIS. |
| Synonym | adolescent kyphoses adolescent kyphosis calve disease calve's disease disease scheuermann's diseases scheuermanns juv osteochondros spine juvenile kyphoses juvenile kyphoses, scheuermann juvenile kyphosis juvenile kyphosis, scheuermann juvenile osteochondritis of the spine juvenile osteochondritis of the spine (disorder) juvenile osteochondritis of the spine nos juvenile osteochondritis of the spine nos (disorder) juvenile osteochondritis of the spine, unspecified juvenile osteochondritis of the spine, unspecified (disorder) juvenile osteochondrosis of marginal or vertebral ephiphysis juvenile osteochondrosis of scheurermann juvenile osteochondrosis of spine juvenile osteochondrosis of spine (disorder) juvenile osteochondrosis of spine nos juvenile osteochondrosis of spine, nos juvenile osteochondrosis of the spine juvenile osteochondrosis of vertebral epiphyses kyphoses, adolescent kyphoses, juvenile kyphoses, scheuermann kyphoses, scheuermann juvenile kyphoses, scheuermann's kyphosis dorsalis juvenilis kyphosis, adolescent kyphosis, juvenile kyphosis, scheuermann kyphosis, scheuermann juvenile kyphosis, scheuermann's morbus scheuermann osteochondritis of the spine scheuermann dis scheuermann disease [disease/finding] scheuermann juvenile kyphoses scheuermann juvenile kyphosis scheuermann kyphoses scheuermann kyphosis scheuermann's disease scheuermann's kyphoses scheuermann's kyphosis scheuermanns dis scheuermanns disease scheuermanns kyphosis scheurmann's disease schuermann's disease sherman's disease spinal osteochondrosis spine juvenile osteochondroses spine juvenile osteochondrosis vertebral epiphysitis |
| OMIM | |
| DOID | |
| UMLS | C0036310 |
| MeSH | |
| 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:15) 176 | ACAN | 1.956 | DISEASES 538 | ATP7A | 2.117 | DISEASES 1280 | COL2A1 | 3.277 | DISEASES 1299 | COL9A3 | 3.8 | DISEASES 8450 | CUL4B | 3.735 | DISEASES 131177 | FAM3D | 4.709 | DISEASES 2200 | FBN1 | 2.315 | DISEASES 79903 | NAA60 | 4.889 | DISEASES 5075 | PAX1 | 3.659 | DISEASES 8073 | PTP4A2 | 3.527 | DISEASES 5817 | PVR | 1.923 | DISEASES 6152 | RPL24 | 2.928 | DISEASES 6164 | RPL34 | 2.834 | DISEASES 92335 | STRADA | 3.956 | DISEASES 8838 | WISP3 | 1.866 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 601 |
|---|---|
| Disease | scheuermann disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0002808 | Gibbus deformity | 5 HP:0002942 | Thoracic kyphosis | 1 HP:0012531 | Pain | 1 HP:0010891 | Scheuermann disease | 1 HP:0003418 | Back pain | 1 HP:0008443 | Spinal deformities | 1 |
| Disease ID | 601 |
|---|---|
| Disease | scheuermann disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 601 |
|---|---|
| Disease | scheuermann disease |
| Case | (Waiting for update.) |