A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible. [ Orphanet:2380 GARD:0006874 ]
Synonyms: aseptic necrosis of the capital femoral epiphysis Legg-Perthes disease Legg-Calvé-Perthes disease Legg-CALVE-Perthes disease juvenile osteochond-hip/pelvis Legg-Calve-Perthes disease Legg Calvé Perthes Disease juvenile osteochondrosis of hip and pelvis juvenile osteochondrosis of hip and/or pelvis Legg-Calve-Perthes syndrome osteochondritis of the capital femoral epiphysis Legg-Calve-Perthes symptom Perthes disease pseudocoxalgia coxa plana Pseudocoxalgia Calve - Perthes' disease Osteochondrosis of the capital femoral epiphysis Perthe's disease osteochondrosis of Legg-Calve-Perthes
Term information
- MedDRA:10034735 (Orphanet:2380/e)
- GARD:6874 (MONDO:GARD)
- NCIT:C34766 (MONDO:equivalentTo)
- UMLS:C0023234 (MONDO:equivalentTo)
- DOID:14415 (MONDO:equivalentTo)
- Orphanet:2380 (OMIM:150600)
- MEDGEN:6035 (MONDO:equivalentTo)
- NORD:1353 (MONDO:NORD)
- SCTID:15739006 (MONDO:equivalentTo)
- OMIM:150600 (Orphanet:2380/e)
- MESH:D007873 (MONDO:equivalentTo)
ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare
https://github.com/monarch-initiative/mondo/issues/4948
https://github.com/monarch-initiative/mondo/issues/521
http://identifiers.org/snomedct/15739006
https://omim.org/entry/150600
http://purl.obolibrary.org/obo/NCIT_C34766
http://identifiers.org/medgen/6035
http://identifiers.org/mesh/D007873
http://www.orpha.net/ORDO/Orphanet_2380
http://purl.obolibrary.org/obo/DOID_14415
http://linkedlifedata.com/resource/umls/id/C0023234