PedAM
Pediatric Disease Annotations & Medicines
| spina bifida occulta | ||||
| Disease ID | 1317 |
|---|---|
| Disease | spina bifida occulta |
| Definition | A common congenital midline defect of fusion of the vertebral arch without protrusion of the spinal cord or meninges. The lesion is also covered by skin. L5 and S1 are the most common vertebrae involved. The condition may be associated with an overlying area of hyperpigmented skin, a dermal sinus, or an abnormal patch of hair. The majority of individuals with this malformation are asymptomatic although there is an increased incidence of tethered cord syndrome and lumbar SPONDYLOSIS. (From Joynt, Clinical Neurology, 1992, Ch55, p34) |
| Synonym | bifida occulta spina bifida occults spina bifida, spina - occulta closed spina bifida closed spinal bifida cryptomerorachischisis occult spina bifida occulta - spina bifida sbo - spina bifida occulta spina bifida occult spina bifida occulta (disorder) spina bifida occulta [disease/finding] spina bifida, occult spinal bifida, closed |
| DOID | |
| ICD10 | |
| UMLS | C0080174 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:41) 3956 | LGALS1 | DISEASES 6928 | HNF1B | DISEASES 7291 | TWIST1 | DISEASES 6299 | SALL1 | DISEASES 3110 | MNX1 | DISEASES 3911 | LAMA5 | DISEASES 10343 | PKDREJ | DISEASES 2346 | FOLH1 | DISEASES 5156 | PDGFRA | DISEASES 5310 | PKD1 | DISEASES 710 | SERPING1 | DISEASES 26040 | SETBP1 | DISEASES 2697 | GJA1 | DISEASES 7545 | ZIC1 | DISEASES 1836 | SLC26A2 | DISEASES 6469 | SHH | DISEASES 10655 | DMRT2 | DISEASES 79966 | SCD5 | DISEASES 5727 | PTCH1 | DISEASES 5493 | PPL | DISEASES 3720 | JARID2 | DISEASES 3767 | KCNJ11 | DISEASES 7048 | TGFBR2 | DISEASES 6261 | RYR1 | DISEASES 25902 | MTHFD1L | DISEASES 5654 | HTRA1 | DISEASES 8732 | RNGTT | DISEASES 8517 | IKBKG | DISEASES 3434 | IFIT1 | DISEASES 4524 | MTHFR | DISEASES 51520 | LARS | DISEASES 6164 | RPL34 | DISEASES 2737 | GLI3 | DISEASES 5075 | PAX1 | DISEASES 64065 | PERP | DISEASES 196527 | ANO6 | DISEASES 6949 | TCOF1 | DISEASES 84107 | ZIC4 | DISEASES 6207 | RPS13 | DISEASES 84667 | HES7 | DISEASES 4522 | MTHFD1 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1317 |
|---|---|
| Disease | spina bifida occulta |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1317 |
|---|---|
| Disease | spina bifida occulta |
| Manually Symptom | (Waiting for update.) |
| 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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| (Waiting for update.) | |
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:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0080174 | valproic acid | D014635 | 99-66-1 | spina bifida occulta | MESH:D016136 | marker/mechanism | 11339465 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |