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Legg-Calve-Perthes disease

^ http://purl.obolibrary.org/obo/MONDO_0007885

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 ]

Term info

database cross reference
  • NCIT:C34766 (MONDO:equivalentTo)
  • OMIM:150600 (Orphanet:2380/e)
  • UMLS:C0023234 (Orphanet:2380/e)
  • MESH:D007873 (MONDO:equivalentTo)
  • DOID:14415 (MONDO:equivalentTo)
  • MedDRA:10034735 (Orphanet:2380/e)
  • SCTID:15739006 (MONDO:equivalentTo)
  • EFO:0007341 (MONDO:equivalentTo)
  • Orphanet:2380 (OMIM:150600)
  • GARD:0006874 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
LCPD [ OMIM:150600 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948, https://github.com/monarch-initiative/mondo/issues/521

closeMatch

http://identifiers.org/meddra/10034735

definition

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.

exactMatch

https://omim.org/entry/150600, http://identifiers.org/snomedct/15739006, http://purl.obolibrary.org/obo/NCIT_C34766, http://identifiers.org/mesh/D007873, http://purl.obolibrary.org/obo/Orphanet_2380, http://purl.obolibrary.org/obo/DOID_14415, http://linkedlifedata.com/resource/umls/id/C0023234

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019686

has exact synonym

aseptic necrosis of the capital femoral epiphysis, juvenile osteochond-hip/pelvis, Legg-Calve-Perthes disease, juvenile osteochondrosis of hip and pelvis, juvenile osteochondrosis of hip and/or pelvis, 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

has related synonym

Legg-Calve-Perthes syndrome, Legg-Calve-Perthes symptom, Legg-Perthes disease, LCPD, Lcp, Legg-Calvé-Perthes disease, Legg-CALVE-Perthes disease, osteochondritis deformans

id

MONDO:0007885

seeAlso

https://rarediseases.info.nih.gov/diseases/6874/legg-calve-perthes-disease