PedAM
Pediatric Disease Annotations & Medicines
| metachondromatosis | ||||
| Disease ID | 511 |
|---|---|
| Disease | metachondromatosis |
| Definition | Metachondromatosis is an autosomal dominant[1]incompletely penetrant[2] skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas.[2] This tumor syndrome affects mainly tubular bones, though it can also involve the vertebrae, small joints, and flat bones.[3] - Wikipedia Reference: https://en.wikipedia.org/wiki/metachondromatosis |
| Synonym | metachondromatosis (disorder) metcds |
| Orphanet | |
| OMIM | |
| UMLS | C0410530 |
| SNOMED-CT | |
| 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) PTPN11 | 12q24.13 |
| Disease ID | 511 |
|---|---|
| Disease | metachondromatosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0001367 | Anomaly of the joints HP:0005701 | Multiple enchondromatosis HP:0006487 | Camptomelia HP:0005655 | Multiple digital exostoses |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 511 |
|---|---|
| Disease | metachondromatosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C1442965 | avascular necrosis of the capital femoral epiphysis |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs267606989 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112453274 | C | T |
| rs387907157 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112489092 | C | T |
| rs387907158 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112450475 | A | T |
| rs397516807 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112455968 | A | - |
| rs398122857 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112453271 | GTACG | - |
| rs398122859 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112453215 | CT | - |
| rs398122860 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112486565 | C | - |
| rs398122861 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112455948 | A | C |
| rs398122862 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112482073 | G | T |
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:0000944 | Abnormality of the metaphyses | MP:0006331 | abnormal patterning of the organ of Corti;HP:0010885 | Aseptic necrosis |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100777 | Exostoses | MP:0003257 | abnormal abdominal wall morphology;HP:0000944 | Abnormality of the metaphyses |
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.) | |