PedAM
Pediatric Disease Annotations & Medicines
| pierre robin syndrome | ||||
| Disease ID | 1509 |
|---|---|
| Disease | pierre robin syndrome |
| Definition | Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome. |
| Synonym | glossoptosis, micrognathia, and cleft palate micrognathia-glossoptosis syndrome piere-robin syndrome pierre robin association pierre robin sequence pierre robin syndrome [disease/finding] pierre robin's sequence pierre robin's syndrome pierre robins sequence pierre robins syndrome pierre-robin anomaly pierre-robin deformity pierre-robin malformation pierre-robin sequence pierre-robin syndrome prbns robin sequence robin sequence (disorder) robin syndrome, pierre robins sequence sequence, pierre robin sequence, pierre robin's sequence, robin syndrome pierre robin syndrome, pierre robin syndrome, pierre-robin |
| OMIM | |
| DOID | |
| UMLS | C0031900 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1509 |
|---|---|
| Disease | pierre robin syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0001648 | Cor pulmonale HP:0008872 | Feeding difficulties in infancy HP:0000175 | Palatoschisis HP:0002643 | Respiratory distress, neonatal HP:0002781 | Upper airway obstruction HP:0000201 | Pierre-robin deformity HP:0000347 | Hypoplasia of mandible HP:0000162 | Retraction of the tongue |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1509 |
|---|---|
| Disease | pierre robin syndrome |
| 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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FDA labeling changes(Total Drugs:0) | |
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