loading...| Preferred Name |
Ollier disease |
|
| Synonyms |
Kast's syndrome |
|
| Definitions |
OMIM mapping confirmed by DO. [SN]. A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_4624 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
UMLS_CUI:C0024454 SNOMEDCT_US_2023_03_01:46041001 ICD10CM:Q78.4 OMIM:166000 MESH:D004687 GARD:7251 NCI:C3213 ORDO:296 |
|
| has exact synonym |
Kast's syndrome DYSCHONDROPLASIA OSTEOCHONDROMATOSIS ENCHONDROMATOSIS, MULTIPLE Enchondromatosis with haemangiomata |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:4624 |
|
| in_subset | ||
| label |
Ollier disease |
|
| notation |
DOID:4624 |
|
| prefLabel |
Ollier disease |
|
| textual definition |
A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet. |
|
| subClassOf |