Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Metachondromatosis
Synonyms
Definitions

Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.

ID

http://www.orpha.net/ORDO/Orphanet_2499

definition

Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2499

has_age_of_onset

Childhood

has_inheritance

Autosomal dominant

hasDbXref

ICD-10:Q78.4

MeSH:C562938

UMLS:C0410530

ICD-11:LD24.2Y

OMIM:156250

label

Metachondromatosis

notation

ORPHA:2499

part_of

http://www.orpha.net/ORDO/Orphanet_93450

prefixIRI

ORDO:Orphanet_2499

prefLabel

Metachondromatosis

present_in

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

Worldwide AND has_cases/families_value : 25.0 (Case)

treeView

http://www.orpha.net/ORDO/Orphanet_93450

subClassOf

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

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

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