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Exostoses, Multiple Hereditary

Go to external page http://purl.bioontology.org/ontology/MESH/D005097

Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.

Instance info

Synonyms

Multiple Exostoses, Hereditary, Exostosis, Familial, Osteochondromas, Multiple, Exostosis, Multiple, Diaphyseale Aklasie (DE), Multiple Osteochondromatosis, Aclasis, Diaphyseal, Osteochondroma, Multiple, Multiple Osteochondroma, Multiple Exostosis, Hereditary, Deforming Chondrodysplasias, Hereditary, Chondrodysplasias, Hereditary Deforming, Exostosen, multiple (DE), Diaphyseal Aclases, Hereditary Deforming Chondrodysplasias, Exostoses, Multiple, Chondrodysplasie, hereditäre deformierende (DE), Hereditary Exostoses, Multiple, Diaphyseal Aclasis, Hereditäre multiple Exostosen (DE), Exostoses, Multiple Cartilaginous, Cartilaginous Exostosis, Multiple, Exostosen, familiäre (DE), Cartilaginous Exostoses, Multiple, Bessel-Hagen Disease, Multiple Hereditary Exostoses, Multiple Osteochondromas, Exostoses, Multiple, Type I, Exostosis, Multiple Cartilaginous, Exostoses, Hereditary Multiple, Familial Exostosis, Deforming Chondrodysplasia, Hereditary, Exostosis, Hereditary Multiple, Chondrodysplasia, Hereditary Deforming, Familial Exostoses, Hereditary Multiple Exostosis, Exostosen, hereditäre multiple (DE), Hereditary Multiple Exostoses, Exostosen, multiple hereditäre (DE), Exostoses, Familial, Hereditary Deforming Chondrodysplasia, Multiple Cartilaginous Exostoses, Osteochondrome, multiple (DE), Multiple Exostoses, Exostosen, multiple kartilaginäre (DE), Multiple Cartilaginous Exostosis, Aclases, Diaphyseal, Multiple Exostosis

AQL

BL CF CI CL CN 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

19680101

HN

90; was EXOSTOSES, MULTIPLE 1968-89

MDA

19990101

MMR

20130708

MN

C04.700.330,C05.116.540.310.500,C05.116.099.708.670.615.325,C04.557.450.565.575.610.615.325,C16.320.700.330

OL

use EXOSTOSES, MULTIPLE HEREDITARY to search EXOSTOSES, MULTIPLE 1968-89

PM

90; was EXOSTOSES, MULTIPLE 1968-89

QB

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000151,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/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,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/D036982,http://purl.bioontology.org/ontology/MESH/D009396,http://purl.bioontology.org/ontology/MESH/D016864,http://purl.bioontology.org/ontology/MESH/D014402,http://purl.bioontology.org/ontology/MESH/D011125,http://purl.bioontology.org/ontology/MESH/D010580,http://purl.bioontology.org/ontology/MESH/D061325,http://purl.bioontology.org/ontology/MESH/D058249,http://purl.bioontology.org/ontology/MESH/D009377,http://purl.bioontology.org/ontology/MESH/D001478,http://purl.bioontology.org/ontology/MESH/D003123,http://purl.bioontology.org/ontology/MESH/D006223,http://purl.bioontology.org/ontology/MESH/D054850,http://purl.bioontology.org/ontology/MESH/D017253,http://purl.bioontology.org/ontology/MESH/D004416

TERMUI

T015609,T015608,T015607,T015606,T015605,T015604,T015603,T015602,T015601,T015600,T015611,T015610,T015599,T015598,T811525,T841618,T841619,T811521,T841616,T841617,T811524

TH

GHR (2014),NLM (1990),OMIM (2013),NLM (1968),UNK (19XX)

cui

C0015306

hasSTY

http://purl.bioontology.org/ontology/STY/T019

mapped from

http://purl.bioontology.org/ontology/MESH/C537914,http://purl.bioontology.org/ontology/MESH/C537350,http://purl.bioontology.org/ontology/MESH/C562938,http://purl.bioontology.org/ontology/MESH/C565076,http://purl.bioontology.org/ontology/MESH/C537502,http://purl.bioontology.org/ontology/MESH/C537208,http://purl.bioontology.org/ontology/MESH/C563566,http://purl.bioontology.org/ontology/MESH/C535375,http://purl.bioontology.org/ontology/MESH/C563975,http://purl.bioontology.org/ontology/MESH/C538356,http://purl.bioontology.org/ontology/MESH/C566776,http://purl.bioontology.org/ontology/MESH/C563167

tui

T019

Instance relations

Types