loading...| Preferred Name |
Exostoses, Multiple Hereditary [Disease/Finding] |
|
| Synonyms |
Multiple Osteochondromatosis |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001175 |
|
| altLabel |
Multiple Osteochondromatosis Exostoses, Familial Exostosis, Familial Exostosis, Multiple Cartilaginous Multiple Cartilaginous Exostoses Multiple Osteochondromas Exostoses, Multiple Cartilaginous Bessel-Hagen Disease Exostosis, Hereditary Multiple Diaphyseal Aclasis Hereditary Multiple Exostoses Exostoses, Multiple, Type I Exostoses, Multiple Hereditary Hereditary Multiple Exostosis Exostosis, Multiple Exostoses, Hereditary Multiple Exostoses, Multiple Multiple Hereditary Exostoses Familial Exostoses Osteochondromas, Multiple Chondrodysplasia, Hereditary Deforming |
|
| cui |
C0015306 |
|
| MESH DEFINITION |
Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation. |
|
| MESH DUI |
D005097 |
|
| MeSH name |
Exostoses, Multiple Hereditary |
|
| MESH UI |
M0008037 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001175 |
|
| NUI |
N0000001175 |
|
| prefLabel |
Exostoses, Multiple Hereditary [Disease/Finding] |
|
| SNOMED CID |
254044004 |
|
| tui |
T019 |
|
| subClassOf |