PedAM
Pediatric Disease Annotations & Medicines
| sprengel deformity | ||||
| Disease ID | 1599 |
|---|---|
| Disease | sprengel deformity |
| Definition | A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). [HPO:probinson] |
| Synonym | cong elevation-scapula congenital elevation of scapula congenital elevation of scapula (disorder) congenital elevation scapula congenital, upward displacement of the scapula deformities sprengels deformity sprengels high scapula high schoulder blade maladie de sprengel familiale sprengel anomaly sprengel's deformity sprengel's shoulder undescended shoulder |
| Orphanet | |
| OMIM | |
| UMLS | C0152438 |
| SNOMED-CT | |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1599 |
|---|---|
| Disease | sprengel deformity |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0006655 | Rib segmentation abnormalities HP:0008952 | Shoulder muscle hypoplasia HP:0002937 | Hemivertebra HP:0002650 | Scoliosis HP:0001435 | Abnormality of the shoulder girdle musculature HP:0003298 | Spina bifida occulta HP:0000470 | Short neck HP:0000473 | Torticollis HP:0003043 | Abnormality of the shoulder HP:0004632 | Cervical spine segmentation defect HP:0000175 | Cleft palate HP:0008952 | Underdeveloped shoulder muscle HP:0008984 | Small neck muscle HP:0000912 | High scapula |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1599 |
|---|---|
| Disease | sprengel deformity |
| 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:0) | |
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| (Waiting for update.) | |
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.) | |