Ontology Browser

Term:
hereditary multiple exostoses (DOID:206)
Annotations: Rat: (7) Mouse: (7) Human: (8) Chinchilla: (7) Bonobo: (7) Dog: (7) Squirrel: (7)
Parent Terms Term With Siblings Child Terms
exostosis +     
Birt-Hogg-Dube syndrome  
Brooke-Spiegler syndrome  
Capillary Hemangioma, Infantile  
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma  
dysplastic nevus syndrome +   
Exostoses with Anetodermia and Brachydactyly Type E 
familial adenomatous polyposis +   
Familial Cancer with In Vitro Radioresistance 
familial chronic myelocytic leukemia-like syndrome  
Familial Cutaneous Collagenoma  
familial meningioma +   
Familial Multiple Trichodiscomas 
Genochondromatosis 
heel spur 
hereditary breast ovarian cancer syndrome  
Hereditary Leiomyomatosis and Renal Cell Cancer  
hereditary multiple exostoses +   
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.
Hereditary Paraganglioma-Pheochromocytoma Syndromes  
juvenile polyposis syndrome +   
Li-Fraumeni syndrome +   
Lynch syndrome +   
Melanoma-Pancreatic Cancer Syndrome  
Multiple Endocrine Neoplasia +   
Multiple Hamartoma Syndrome +   
nephroblastoma +   
neurofibromatosis +   
nevoid basal cell carcinoma syndrome +   
Osteophytes  
Paragangliomas 2  
Paragangliomas 3  
Peutz-Jeghers syndrome  
Subungual Exostoses 
Torus Palatinus and Torus Mandibularis 
tuberous sclerosis +   
Turcot Syndrome  

Synonyms
Exact Synonyms: Bessel-Hagen disease ;   Diaphyseal Aclases ;   Diaphyseal Aclasis ;   Familial Exostoses ;   Familial Exostosis ;   HEREDITARY MULTIPLE OSTEOCHONDROMATOSIS ;   Hereditary Deforming Chondrodysplasia ;   Hereditary Deforming Chondrodysplasias ;   Hereditary Multiple Exostosis ;   Multiple Cartilaginous Exostosis ;   Multiple Exostoses ;   Multiple Exostosis ;   Multiple Osteochondroma ;   Multiple Osteochondromas ;   Multiple congenital exostosis ;   multiple cartilaginous exostoses ;   multiple exostosis syndromes ;   multiple ostechondromas ;   multiple osteochondromatosis ;   osteochondromatosis syndrome
Primary IDs: MESH:D005097
Alternate IDs: RDO:0000463
Xrefs: ORDO:321
Definition Sources: MESH:D005097, http://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html, http://en.wikipedia.org/wiki/Hereditary_multiple_exostoses, http://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses, http://www.mheresearchfoundation.org/, http://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.