Camurati-Engelmann Syndrome

Camurati Engelmann Syndrome

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.

http://purl.bioontology.org/ontology/MESH/D003966

Camurati Engelmann Syndrome

Diaphyseal Dysplasias, Progressive

Engelmann Disease

Diaphyseal Hyperostoses

Camurati-Engelmann Disease

Camurati Engelmann Disease

Engelmann's Disease

Diaphyseal Dysplasia, Progressive

Diaphyseal Hyperostosis

Dysplasias, Progressive Diaphyseal

Hyperostosis, Diaphyseal

Dysplasia, Progressive Diaphyseal

Diaphyseal Dysplasia 1, Progressive

Hyperostoses, Diaphyseal

Progressive Diaphyseal Dysplasia

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

C0011989

1

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.

19910101

2007(1975)

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

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

http://purl.bioontology.org/ontology/MESH/C537613

http://purl.bioontology.org/ontology/MESH/C564689

http://purl.bioontology.org/ontology/MESH/C537978

19741111

20180702

C05.116.099.708.180

C16.320.144

D003966

Camurati-Engelmann Syndrome

T012016

T669457

T012015

T012014

T811498

T000941400

T012013

T841055

NLM (1975)

UNK (19XX)

NLM (2007)

ORD (2010)

OMIM (2013)

GHR (2014)

T047

http://purl.bioontology.org/ontology/MESH/D010009

http://purl.bioontology.org/ontology/MESH/D030342