PedAM
Pediatric Disease Annotations & Medicines
| oliver syndrome | ||||
| Disease ID | 1183 |
|---|---|
| Disease | oliver syndrome |
| Definition | A very rare syndrome with characteristics of intellectual deficit, postaxial polydactyly and epilepsy. To date, seven individuals in three families have been reported. Facial features are not characteristic except for a prominent jaw. Concordant features in all subjects are postaxial polydactyly, which in four individuals affect also the feet, and intellectual deficit, which is usually severe, with absent or indistinct speech. Seizures are common with onset in the first months of life or in early childhood. Cutaneous syndactyly, camptodactyly and clinodactyly of fingers and brachydactyly and syndactyly of the toes have been recorded. |
| Synonym | postaxial polydactyly and intellectual disability syndrome postaxial polydactyly and intellectual disability syndrome (disorder) postaxial polydactyly and mental retardation |
| Orphanet | |
| OMIM | |
| UMLS | C1850320 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1183 |
|---|---|
| Disease | oliver syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0030680 | Abnormality of cardiovascular system morphology | 2 HP:0001660 | Common arterial trunk | 1 HP:0001057 | Aplasia cutis congenita | 1 HP:0001134 | Anterior polar cataract | 1 HP:0010696 | Polar cataract | 1 HP:0001638 | Cardiomyopathy | 1 HP:0001362 | Cranial defect | 1 HP:0001627 | Congenital heart defects | 1 HP:0001644 | Congestive cardiomyopathy | 1 HP:0100033 | Tic disorder | 1 |
| Disease ID | 1183 |
|---|---|
| Disease | oliver syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001162 | Postaxial hand polydactyly | MP:0000562 | polydactyly;HP:0004209 | Clinodactyly of the 5th finger |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0010465 | aberrant origin of the right subclavian artery;HP:0100543 | Cognitive impairment |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |