loading...| Preferred Name | metachondromatosis | |
| Synonyms |
METCDS |
|
| Definitions |
An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0111512 |
|
| alternative label |
METCDS |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:205481009 UMLS_CUI:C0410530 MESH:C562938 OMIM:156250 GARD:3560 ORDO:2499 |
|
| definition |
An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13. |
|
| has exact synonym |
METCDS |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111512 |
|
| in_subset | ||
| label |
metachondromatosis |
|
| notation |
DOID:0111512 |
|
| note |
An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13. |
|
| preferred label |
metachondromatosis |
|
| prefLabel |
metachondromatosis |
|
| subClassOf |