diastematomyelia |
Disease ID | 741 |
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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:6) C0011649 | dermoid | 2 C0038018 | spondylolysis | 1 C0039144 | syringomyelia | 1 C0080178 | spinal dysraphism | 1 C0265343 | vertebral anomalies | 1 C0265343 | jarcho-levin syndrome | 1 |
Curated Gene | (Waiting for update.) |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | (Waiting for update.) |
Locus | (Waiting for update.) |
Disease ID | 741 |
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Disease | diastematomyelia |
Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0100563 | Diastomatomyelia HP:0002230 | Generalized hirsutism HP:0002650 | Scoliosis HP:0000707 | Neurological abnormality |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0010301 | Spinal dysraphism | 1 HP:0003468 | Vertebral anomalies | 1 HP:0003304 | Spondylolysis | 1 HP:0003396 | Syringomyelia | 1 HP:0012531 | Pain | 1 |
Disease ID | 741 |
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Disease | diastematomyelia |
Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Annotation(Total Genotypes:0) | |
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GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:1) | ||||
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HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0000998 | Hypertrichosis | MP:0000010 | abnormal abdominal fat pad morphology;HP:0002650 | Scoliosis |
Chemical(Total Drugs:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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(Waiting for update.) |