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Camurati-Engelmann Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D003966

An autosomal dominant form of dysplasia that is characterized by progressive thickening of diaphyseal cortex of long bones. Mutations in the gene that encodes TRANSFORMING GROWTH FACTOR BETA1 are one cause of this disorder.

Instance info

Synonyms

Camurati Engelmann Disease, Diaphyseal Dysplasias, Progressive, Dysplasia, Progressive Diaphyseal, Engelmann's Disease, Diaphyseal Dysplasia 1, Progressive, Hyperostosis, Diaphyseal, Diaphysäre Dysplasie, progressive (DE), Engelmann Disease, Diaphyseal Hyperostosis, Diaphyseal Dysplasia, Progressive, Camurati-Engelmann Disease, Diaphyseal Hyperostoses, Dysplasias, Progressive Diaphyseal, Progressive Diaphyseal Dysplasia, Hyperostoses, Diaphyseal, Camurati Engelmann Syndrome, Engelmann-Krankheit (DE), Camurati-Engelmann-Syndrom (DE)

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

19910101

HN

2007(1975)

MDA

19741111

MMR

20180702

MN

C05.116.099.708.180,C16.320.144

PM

2007; see OSTEOCHONDRODYSPLASIAS 1985-1990, see BONE DISEASES, DEVELOPMENTAL 1975-1984

QB

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D017436,http://purl.bioontology.org/ontology/MESH/D009136,http://purl.bioontology.org/ontology/MESH/D019896,http://purl.bioontology.org/ontology/MESH/D010009,http://purl.bioontology.org/ontology/MESH/D025063,http://purl.bioontology.org/ontology/MESH/D058747,http://purl.bioontology.org/ontology/MESH/D010004,http://purl.bioontology.org/ontology/MESH/D000072661,http://purl.bioontology.org/ontology/MESH/D002973,http://purl.bioontology.org/ontology/MESH/D000312,http://purl.bioontology.org/ontology/MESH/D055947,http://purl.bioontology.org/ontology/MESH/D020083,http://purl.bioontology.org/ontology/MESH/D053840,http://purl.bioontology.org/ontology/MESH/D052159,http://purl.bioontology.org/ontology/MESH/D057767,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D054179,http://purl.bioontology.org/ontology/MESH/D050174,http://purl.bioontology.org/ontology/MESH/D050010,http://purl.bioontology.org/ontology/MESH/D065768,http://purl.bioontology.org/ontology/MESH/D014898,http://purl.bioontology.org/ontology/MESH/D010013,http://purl.bioontology.org/ontology/MESH/D012873,http://purl.bioontology.org/ontology/MESH/D058631,http://purl.bioontology.org/ontology/MESH/D015785,http://purl.bioontology.org/ontology/MESH/D006453,http://purl.bioontology.org/ontology/MESH/D004392,http://purl.bioontology.org/ontology/MESH/D015826,http://purl.bioontology.org/ontology/MESH/D020294,http://purl.bioontology.org/ontology/MESH/D049970,http://purl.bioontology.org/ontology/MESH/D007619,http://purl.bioontology.org/ontology/MESH/D029502,http://purl.bioontology.org/ontology/MESH/D046589,http://purl.bioontology.org/ontology/MESH/D025861,http://purl.bioontology.org/ontology/MESH/D002806,http://purl.bioontology.org/ontology/MESH/D005357,http://purl.bioontology.org/ontology/MESH/D009958,http://purl.bioontology.org/ontology/MESH/D000745,http://purl.bioontology.org/ontology/MESH/D056660,http://purl.bioontology.org/ontology/MESH/D008382,http://purl.bioontology.org/ontology/MESH/D015831,http://purl.bioontology.org/ontology/MESH/D010381,http://purl.bioontology.org/ontology/MESH/D008661,http://purl.bioontology.org/ontology/MESH/D060048,http://purl.bioontology.org/ontology/MESH/D010026,http://purl.bioontology.org/ontology/MESH/D031845,http://purl.bioontology.org/ontology/MESH/D004613,http://purl.bioontology.org/ontology/MESH/D006957,http://purl.bioontology.org/ontology/MESH/D024741,http://purl.bioontology.org/ontology/MESH/D000071070,http://purl.bioontology.org/ontology/MESH/D006958,http://purl.bioontology.org/ontology/MESH/D053306,http://purl.bioontology.org/ontology/MESH/D056735,http://purl.bioontology.org/ontology/MESH/D000130,http://purl.bioontology.org/ontology/MESH/D000077428,http://purl.bioontology.org/ontology/MESH/D056731,http://purl.bioontology.org/ontology/MESH/D002636,http://purl.bioontology.org/ontology/MESH/D000699,http://purl.bioontology.org/ontology/MESH/D009386,http://purl.bioontology.org/ontology/MESH/D001260,http://purl.bioontology.org/ontology/MESH/D016738,http://purl.bioontology.org/ontology/MESH/D009261,http://purl.bioontology.org/ontology/MESH/D012779,http://purl.bioontology.org/ontology/MESH/D040181,http://purl.bioontology.org/ontology/MESH/D004687,http://purl.bioontology.org/ontology/MESH/D020271,http://purl.bioontology.org/ontology/MESH/D003550,http://purl.bioontology.org/ontology/MESH/D056685,http://purl.bioontology.org/ontology/MESH/D056684

TERMUI

T841055,T000941400,T669457,T012016,T012014,T012015,T012013,T811498

TH

GHR (2014),NLM (2007),ORD (2010),OMIM (2013),UNK (19XX),NLM (1975)

cui

C0011989

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C537613,http://purl.bioontology.org/ontology/MESH/C537978,http://purl.bioontology.org/ontology/MESH/C564689

tui

T047

Instance relations

Types