eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| diastematomyelia | ||||
| Disease ID | 1167 |
|---|---|
| Disease | diastematomyelia |
| Definition | A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida. |
| Synonym | diastematomyelia (congenital defect of spinal cord) diastematomyelia (congential defect of spinal cord) diastematomyelia (disorder) diastematomyelias |
| Orphanet | |
| OMIM | |
| ICD10 | |
| UMLS | C0011999 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0011649 | dermoid | 2 C0265343 | jarcho-levin syndrome | 1 C0039144 | syringomyelia | 1 C0038018 | spondylolysis | 1 C0080178 | spinal dysraphism | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1167 |
|---|---|
| Disease | diastematomyelia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0100563 | Diastomatomyelia HP:0002650 | Scoliosis HP:0002230 | Generalized hirsutism HP:0000707 | Neurological abnormality |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0012531 | Pain | 1 HP:0003304 | Spondylolysis | 1 HP:0003396 | Syringomyelia | 1 HP:0010301 | Spinal dysraphism | 1 |
| Disease ID | 1167 |
|---|---|
| Disease | diastematomyelia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| 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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000707 | Abnormality of the nervous system | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000707 | Abnormality of the nervous system | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002230 | Generalized hirsutism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1167 |
|---|---|
| Disease | diastematomyelia |
| Case | (Waiting for update.) |