hyperostosis hyperostosis corticalis generalisata https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/van_buchem_disease Van Buchem disease endosteal hyperostosis OMIM:239100 MONDO:0009395 MEDGEN:98484 UMLS:C0432272 Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies. SCTID:59763006 GARD:0002833 hyperphosphatasemia tarda van Buchem disease type 1 hyperostosis corticalis generalisata Orphanet:3416 DOID:0080036 endosteal hyperostosis autosomal recessive van Buchem disease NCIT:C131812 icd11.foundation:241514592 VBCH skeletal dysplasia obsolete_hyperostosis corticalis generalisata