Preferred Name | Metachondromatosis | |
Synonyms |
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Definitions |
Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. |
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ID |
http://www.orpha.net/ORDO/Orphanet_2499 |
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definition |
Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. |
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definition_citation |
Orphanet |
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expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2499 |
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has_age_of_onset |
Childhood |
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has_inheritance |
Autosomal dominant |
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hasDbXref |
ICD-10:Q78.4 MeSH:C562938 UMLS:C0410530 ICD-11:LD24.2Y OMIM:156250 |
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label |
Metachondromatosis |
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notation |
ORPHA:2499 |
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part_of | ||
prefixIRI |
ORDO:Orphanet_2499 |
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prefLabel |
Metachondromatosis |
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present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 25.0 (Case) |
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treeView | ||
subClassOf |
Create mapping