PedAM
Pediatric Disease Annotations & Medicines
| plagiocephaly | ||||
| Disease ID | 1370 |
|---|---|
| Disease | plagiocephaly |
| Definition | The condition characterized by uneven or irregular shape of the head often in parallelogram shape with a flat spot on the back or one side of the head. It can either result from the premature CRANIAL SUTURE closure (CRANIOSYNOSTOSIS) or from external forces (NONSYNOSTOTIC PLAGIOCEPHALY). |
| Synonym | asymmetric head flat head syndrome lateral curvatures of skull unequal plagiocephalies plagiocephaly (disorder) plagiocephaly [disease/finding] |
| ICD10 | |
| UMLS | C0265529 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1370 |
|---|---|
| Disease | plagiocephaly |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0000473 | Spasmodic torticollis | 4 HP:0004440 | Craniosynostosis of coronal suture | 1 HP:0004425 | Flattened forehead | 1 HP:0000486 | Squint eyes | 1 HP:0011220 | Prominent forehead | 1 HP:0000267 | Cranial asymmetry | 1 HP:0000248 | Brachycephaly | 1 HP:0001263 | Developmental retardation | 1 HP:0000274 | Hypoplasia of face | 1 |
| Disease ID | 1370 |
|---|---|
| Disease | plagiocephaly |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs4647924 | 9580776 | 2261 | FGFR3 | umls:C0265529 | BeFree | To determine whether the autosomal dominant fibroblast growth factor receptor 3 (FGFR3) Pro250Arg mutation causes anterior plagiocephaly, patients with either apparently sporadic unicoronal synostosis (N = 37) or other forms of anterior plagiocephaly (N = 10) were studied for this mutation. | 0.000542884 | 1998 | FGFR3 | 4 | 1801844 | C | G |
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.) | |