loading...| Preferred Name |
hereditary multiple exostoses |
|
| Synonyms |
Multiple exostosis syndromes Multiple congenital exostosis hereditary multiple exostoses 3 hereditary multiple exostoses 2 multiple ostechondromas Osteochondromatosis syndrome hereditary multiple exostoses 1 |
|
| Definitions |
An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_206 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
Multiple exostosis syndromes Multiple congenital exostosis hereditary multiple exostoses 3 hereditary multiple exostoses 2 multiple ostechondromas Osteochondromatosis syndrome hereditary multiple exostoses 1 |
|
| database_cross_reference |
UMLS_CUI:C0015306 ICD10CM:Q78.6 SNOMEDCT_US_2023_03_01:254044004 OMIM:133700 OMIM:133701 OMIM:600209 MESH:D005097 NCI:C5183 ORDO:321 |
|
| definition |
An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth. OMIM mapping confirmed by DO. [SN]. |
|
| has exact synonym |
Multiple exostosis syndromes Multiple congenital exostosis hereditary multiple exostoses 3 hereditary multiple exostoses 2 multiple ostechondromas Osteochondromatosis syndrome hereditary multiple exostoses 1 |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:206 |
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| in_subset | ||
| label |
hereditary multiple exostoses |
|
| notation |
DOID:206 |
|
| note |
An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth. OMIM mapping confirmed by DO. [SN]. |
|
| preferred label |
hereditary multiple exostoses |
|
| prefLabel |
hereditary multiple exostoses |
|
| subClassOf |