PedAM
Pediatric Disease Annotations & Medicines
| codas syndrome | ||||
| Disease ID | 1891 |
|---|---|
| Disease | codas syndrome |
| Definition | A rare syndrome caused by mutations in the LONP1 gene. It is characterized by developmental delay, cerebral, ocular, dental, auricular, and skeletal abnormalities. |
| Synonym | cerebral, ocular, dental, auricular, and skeletal anomalies syndrome cerebral, ocular, dental, auricular, and skeletal syndrome cerebral, ocular, dental, auricular, skeletal anomalies syndrome cerebro-oculo-dento-auriculo-skeletal syndrome cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) codas (cerebro-oculo-dento-auriculo-skeletal) syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C1838180 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) LONP1 | 19p13.2 |
| Disease ID | 1891 |
|---|---|
| Disease | codas syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:33) HP:0000407 | Sensorineural hearing impairment HP:0003312 | Abnormal form of the vertebral bodies HP:0010049 | Short metacarpal HP:0001263 | Global developmental delay HP:0001600 | Abnormality of the larynx HP:0001629 | Ventricular septal defect HP:0000286 | Epicanthus HP:0005692 | Joint hyperflexibility HP:0005930 | Abnormality of epiphysis morphology HP:0004322 | Short stature HP:0001156 | Brachydactyly syndrome HP:0000684 | Delayed eruption of teeth HP:0004122 | Midline defect of the nose HP:0003196 | Short nose HP:0000486 | Strabismus HP:0000508 | Ptosis HP:0000682 | Abnormality of dental enamel HP:0001252 | Muscular hypotonia HP:0006482 | Abnormality of dental morphology HP:0000396 | Overfolded helix HP:0005280 | Depressed nasal bridge HP:0003417 | Coronal cleft vertebrae HP:0012368 | Flat face HP:0000518 | Cataract HP:0005242 | Extrahepatic biliary duct atresia HP:0000639 | Nystagmus HP:0002650 | Scoliosis HP:0002644 | Abnormality of pelvic girdle bone morphology HP:0000463 | Anteverted nares HP:0002750 | Delayed skeletal maturation HP:0000072 | Hydroureter HP:0001374 | Congenital hip dislocation HP:0009901 | Crumpled ear |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1891 |
|---|---|
| Disease | codas 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs730880293 | NA | 9361 | LONP1 | umls:C1838180 | CLINVAR | NA | 0.360271442 | NA | LONP1;LOC105372254 | 19 | 5693737 | T | C |
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.) | |