Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Fibrous dysplasia of bone

Synonyms
Definitions

A rare, benign, primary bone dysplasia characterized by progressive replacement of normal bone and marrow with fibrous connective tissue in either one (monostotic) or multiple (polyostotic) bones. Clinical manifestations depend on the anatomic location of the replacement and may include bone pain, deformities, pathological fractures, and cranial nerve deficits.

ID

http://www.orpha.net/ORDO/Orphanet_249

definition

A rare, benign, primary bone dysplasia characterized by progressive replacement of normal bone and marrow with fibrous connective tissue in either one (monostotic) or multiple (polyostotic) bones. Clinical manifestations depend on the anatomic location of the replacement and may include bone pain, deformities, pathological fractures, and cranial nerve deficits.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=249

has_age_of_onset

Adolescent

Adult

Childhood

has_inheritance

Not applicable

hasDbXref

MedDRA:10016664

MeSH:D005357

ICD-11:FB80.0

ICD-10:Q78.1

UMLS:C0259779

label

Fibrous dysplasia of bone

notation

ORPHA:249

part_of

http://www.orpha.net/ORDO/Orphanet_595216

prefixIRI

ORDO:Orphanet_249

prefLabel

Fibrous dysplasia of bone

present_in

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_595216

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493

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