loading...| Preferred Name | metachondromatosis | |
| Synonyms |
METACHONDROMATOSIS METCDS metachondromatosis |
|
| Definitions |
Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007979 |
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| database_cross_reference |
ICD9:756.59 SCTID:205481009 Orphanet:2499 GARD:3560 DOID:0111512 UMLS:C0410530 MESH:C562938 OMIM:156250 |
|
| definition |
Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_0111512 http://identifiers.org/snomedct/205481009 http://identifiers.org/mesh/C562938 |
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| has material basis in germline mutation in | ||
| has_exact_synonym |
metachondromatosis |
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| has_related_synonym |
METACHONDROMATOSIS METCDS |
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| IAO_0000233 | ||
| id |
MONDO:0007979 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
|
| label |
metachondromatosis |
|
| notation |
MONDO:0007979 |
|
| prefLabel |
metachondromatosis |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/3560/metachondromatosis |
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| treeView | ||
| excluded subClassOf | ||
| subClassOf |