| Metadata | |
|---|---|
| ID | DOID:0080036 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080036 Copy |
| Name | SOST-related sclerosing bone dysplasia |
| Definition | A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. http://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia |
| Xrefs | |
| Alternateids |
DOID:0080035 |
| Subsets |
DO_rare_slim |
| Synonyms |
van Buchem disease [EXACT] |
| Parent Relationships |
is_a hyperostosis |
| Equivalent Logical Relationships |
disease and derives from some endosteal cell and has phenotype some Overgrowth |
| Subclass Logical Relationships |
has phenotype some Overgrowth has material basis in some autosomal recessive inheritance |