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loading...| Preferred Name |
Worth syndrome |
|
| Synonyms |
autosomal dominant endosteal hyperostosis |
|
| Definitions |
A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0080037 |
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| database_cross_reference |
SNOMEDCT_US_2023_03_01:254131007 OMIM:144750 UMLS_CUI:C0432273 MESH:C536748 GARD:390 ORDO:2790 |
|
| definition |
A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. |
|
| has exact synonym |
autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis Worth's syndrome benign form of Worth hyperostosis corticalis generalisata with torus platinus |
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| has material basis in | ||
| has_alternative_id |
DOID:0111372 |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0080037 |
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| in_subset | ||
| label |
Worth syndrome |
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| notation |
DOID:0080037 |
|
| prefLabel |
Worth syndrome |
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| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0080037 | DOID | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0080037 | HHEAR | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0080037 | FNS-H | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0080037 | DOID | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C536748 | MESH | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0080037 | HHEAR | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0080037 | FNS-H | LOOM | |
| http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536748 | RH-MESH | LOOM |