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autosomal dominant osteosclerosis, Worth type

Go to external page http://purl.obolibrary.org/obo/MONDO_0007764

A sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture. [ https://orcid.org/0000-0001-5208-3432 ]

Term info

Label

autosomal dominant osteosclerosis, Worth type

Synonyms
  • OstĂ©osclĂ©rose autosomique dominante type Worth
  • Worth syndrome
  • Worth's syndrome
  • autosomal dominant endosteal hyperostosis
  • autosomal dominant osteosclerosis
  • benign form of Worth hyperostosis corticalis generalisata with torus platinus
  • endosteal hyperostosis, Worth type
  • hyperostosis, endosteal
database cross reference
Subsets

ordo_malformation_syndrome

exactMatch

https://omim.org/entry/144750, http://purl.obolibrary.org/obo/DOID_0080037, http://identifiers.org/snomedct/254131007, http://purl.obolibrary.org/obo/Orphanet_2790

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019703

has related synonym

osteosclerosis, autosomal dominant, Worth type, Van Buchem disease, type 2, osteosclerosis of the skull and enlarged mandible, hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus, Van Buchem disease type 2, endosteal hyperostosis, autosomal dominant, VBCH2, hyperostosis corticalis generalisata, benign form of Worth with torus palatinus, osteosclerosis, autosomal dominant

id

MONDO:0007764

narrowMatch

https://icd.codes/icd10cm/Q78.2

see also

https://github.com/monarch-initiative/mondo/issues/4533, https://github.com/monarch-initiative/mondo/issues/4521, https://github.com/monarch-initiative/mondo/issues/4948