PedAM
Pediatric Disease Annotations & Medicines
| developmental dysplasia of hip | ||||
| Disease ID | 1642 |
|---|---|
| Disease | developmental dysplasia of hip |
| Definition | Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral head from the true acetabulum. This condition occurs in approximately 1 in 1000 live births and is more common in females than in males. |
| Synonym | acetabular dysplasia acetabulum dysplasia cdh cdh - congenital dislocation of the hip clicky hips congen hip dislocation congen hip dysplasia congen. disloc. hip congenital dislocation hip congenital dislocation hips congenital dislocation of hip congenital dislocation of hip (disorder) congenital dislocation of hip nos congenital dislocation of hip nos (disorder) congenital dislocation of hip, nos congenital dislocation of the hip congenital dislocation of the hips congenital dysplasia hip congenital dysplasia of the hip congenital dysplasia of the hip (disorder) congenital hip anomaly congenital hip dislocation congenital hip dislocations congenital hip displacement congenital hip displacements congenital hip dysplasia congenital hip dysplasia (disorder) congenital hip dysplasias ddh developmental dislocation hip developmental dislocation hips developmental dislocation of hip developmental displacement of the hip developmental dysplasia of the hip developmental hip dislocation developmental hip displacement disloc. hip - congen. dislocated hip since birth dislocation congen hip dislocation of hip, congenital dislocation, congenital hip dislocations, congenital hip displacement, congenital hip displacements, congenital hip dysplasia congen hip dysplasia of acetabulum dysplasia, congenital hip dysplasias, congenital hip hip congenital dislocation hip dislocation congen hip dislocation, congenital hip dislocation, congenital [disease/finding] hip dislocations, congenital hip displacement, congenital hip displacements, congenital hip dysplasia hip dysplasia congen hip dysplasia, congenital hip dysplasia, developmental hip dysplasias, congenital hip, dislocation of, congenital |
| OMIM | |
| DOID | |
| UMLS | C0019555 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1642 |
|---|---|
| Disease | developmental dysplasia of hip |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1642 |
|---|---|
| Disease | developmental dysplasia of hip |
| 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:3) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs143383 | 21542882 | 8200 | GDF5 | umls:C0019555 | BeFree | That has proven to be the case for the GDF5 polymorphism rs143383, a risk factor for knee osteoarthritis and several other common conditions, including lumbar-disc degeneration and developmental dysplasia of the hip. | 0.00554839 | 2011 | GDF5 | 20 | 35438203 | G | A |
| rs61746008 | 19396033 | 2200 | FBN1 | umls:C0019555 | BeFree | Fibrillin 1 gene with R2726W mutation is absent in patients with primary protrusio acetabuli and developmental dysplasia of the hip. | 0.002638474 | 2009 | FBN1 | 15 | 48412619 | G | A,C |
| rs726252 | 24672801 | 60676 | PAPPA2 | umls:C0019555 | BeFree | A replication study for the association of rs726252 in PAPPA2 with developmental dysplasia of the hip in Chinese Han population. | 0.000542884 | 2013 | PAPPA2 | 1 | 176691111 | C | T |
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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FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |