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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 |
| database_cross_reference |
ORDO:2499 MESH:C562938 OMIM:156250 GARD:3560 SNOMEDCT_US_2022_09_01:205481009 UMLS_CUI:C0410530 |
| 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 |
| prefLabel |
metachondromatosis |
| subClassOf |
Create New Mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/156250 | Online Mendelian Inheritance in Man | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C562938 | Medical Subject Headings | LOOM |