loading...| Preferred Name |
Exostoses, Multiple Hereditary |
|
| Synonyms |
Hereditary Exostoses, Multiple |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D005097 |
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| altLabel |
Hereditary Exostoses, Multiple Cartilaginous Exostosis, Multiple Diaphyseal Aclases Multiple Cartilaginous Exostosis Multiple Osteochondromatosis Multiple Exostoses Chondrodysplasias, Hereditary Deforming Deforming Chondrodysplasia, Hereditary Osteochondroma, Multiple Exostoses, Familial Exostosis, Familial Exostosis, Multiple Cartilaginous Multiple Cartilaginous Exostoses Aclasis, Diaphyseal Multiple Osteochondromas Aclases, Diaphyseal Exostoses, Multiple Cartilaginous Bessel-Hagen Disease Exostosis, Hereditary Multiple Diaphyseal Aclasis Multiple Osteochondroma Hereditary Multiple Exostoses Hereditary Deforming Chondrodysplasia Exostoses, Multiple, Type I Hereditary Multiple Exostosis Exostosis, Multiple Cartilaginous Exostoses, Multiple Multiple Exostosis, Hereditary Exostoses, Hereditary Multiple Hereditary Deforming Chondrodysplasias Familial Exostosis Exostoses, Multiple Multiple Exostosis Multiple Hereditary Exostoses Deforming Chondrodysplasias, Hereditary Familial Exostoses Osteochondromas, Multiple Multiple Exostoses, Hereditary Chondrodysplasia, Hereditary Deforming |
|
| AQL |
BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0015306 |
|
| DC |
1 |
|
| 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. |
|
| DX |
19680101 |
|
| HN |
90; was EXOSTOSES, MULTIPLE 1968-89 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
90; was EXOSTOSES, MULTIPLE 1968-89 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C537914 http://purl.bioontology.org/ontology/MESH/C566776 http://purl.bioontology.org/ontology/MESH/C535375 http://purl.bioontology.org/ontology/MESH/C537350 http://purl.bioontology.org/ontology/MESH/C538356 http://purl.bioontology.org/ontology/MESH/C537208 http://purl.bioontology.org/ontology/MESH/C562938 http://purl.bioontology.org/ontology/MESH/C563975 http://purl.bioontology.org/ontology/MESH/C565076 http://purl.bioontology.org/ontology/MESH/C563167 |
|
| MDA |
19990101 |
|
| MMR |
20130708 |
|
| MN |
C05.116.099.708.670.615.325 C05.116.540.310.500 C04.557.450.565.575.610.615.325 C04.700.330 C16.320.700.330 |
|
| notation |
D005097 |
|
| OL |
use EXOSTOSES, MULTIPLE HEREDITARY to search EXOSTOSES, MULTIPLE 1968-89 |
|
| prefLabel |
Exostoses, Multiple Hereditary |
|
| TERMUI |
T015606 T841617 T015601 T841619 T015611 T811521 T015604 T015605 T015600 T015608 T015598 T841616 T015599 T015610 T015609 T015607 T015602 T811525 T841618 T015603 T811524 |
|
| TH |
OMIM (2013) NLM (1968) NLM (1990) UNK (19XX) GHR (2014) |
|
| tui |
T019 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D005096 |