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. [ GARD:0006874 Orphanet:2380 ]
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 Legg-Calve-Perthes symptom osteochondritis of the capital femoral epiphysis Perthes disease pseudocoxalgia coxa plana Pseudocoxalgia Osteochondrosis of the capital femoral epiphysis Calve - Perthes' disease Perthe's disease osteochondrosis of Legg-Calve-Perthes
Term information
- SCTID:15739006 (MONDO:equivalentTo)
- OMIM:150600 (Orphanet:2380/e)
- UMLS:C1442965 (MONDO:equivalentTo)
- DOID:14415 (MONDO:equivalentTo)
- MESH:D007873 (MONDO:equivalentTo)
- NORD:1353 (MONDO:NORD)
- MedDRA:10034735 (Orphanet:2380/e)
- Orphanet:2380 (OMIM:150600)
- NCIT:C34766 (MONDO:equivalentTo)
- GARD:6874 (MONDO:GARD)
- MEDGEN:730669 (MONDO:equivalentTo)
gard_rare, ordo_disorder, matrix_llm__is_cancer_other, harrisons_view_connective_tissue_disorder, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_included, nord_rare, rare, harrisons_view_musculoskeletal_system_disorder, orphanet_rare, mondo_top_grouping_syndromic_disease, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_connective_tissue_disorder
https://omim.org/entry/150600
http://identifiers.org/snomedct/15739006
http://linkedlifedata.com/resource/umls/id/C1442965
http://purl.obolibrary.org/obo/NCIT_C34766
http://www.orpha.net/ORDO/Orphanet_2380
http://identifiers.org/mesh/D007873
http://identifiers.org/medgen/730669
http://purl.obolibrary.org/obo/DOID_14415
https://github.com/monarch-initiative/mondo/issues/4948
https://github.com/monarch-initiative/mondo/issues/521